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It is important to understand what congenital adrenal hyperplasia (CAH) is before the nature of 11 beta hydroxylase deficiency can be fully explained. CAH refers to any one of the many autosomal recessive illnesses that result from flaws in cortisol synthesis steps done by the adrenal glands. All of the types of CAH have either overproduction or malfunctioning of sex steroids. 11 beta hydroxylase deficiency is just one of the types of CAH and is a result of mutation in the gene called CYP11B1. This type is next only to 21-hydroxylase deficiency when it comes to its prevalence, comprising only 5-8% of the entire number of cases. [read more]
11Beta-hydroxysteroid dehydrogenase type 2 deficiency also known as (11beta-HSD2) is one of the most common causes of retention of sodium and serious cases of hypertension. This happens when glucocorticoids are admitted to the mineralocorticosteroid receptors which are non-selective. [read more]
17 Alpha hydroxylase deficiency syndrome is a very rare disorder of the genes (specifically on steroid biosynthesis) which causes reduced production of sex steroids and glucocorticoids while the mineralocorticoid precursors are observed to have increased synthesis. It is, therefore, an autosomal recessive condition. The absence or deficiency of 17 hydroxylase results into many sexual malformations and illnesses. [read more]
The hormones estrogen and androgen play critical roles in the development of sexual organs. 17?-hydroxysteroid dehydrogenase isozyme (17?-HSD) acts as a catalyst between the biologically inactive and active types of hormones. Any deviation from this normal process results into various abnormal conditions. [read more]
1p36 deletion syndrome also known as monosomy 1p36 is a disorder of the chromosomes in which chromosome 1 loses the end part of its short arm. This disorder was first depicted during the late 90's and the early parts of 2000's. FISH testing is often required to be able to confirm a diagnosis. This condition can occur as a ?pure' case or it can occur together with other imbalances of the chromosome. [read more]
21-hydroxylase deficiency is also called as congenital adrenal hyperplasia and is a disorder that is often inherited. This disorder affects the adrenal glands which are located above the kidneys and these glands produce hormones that are responsible for regulating many important human body functions. The two hormones, cortisol and aldosterone, are produced by an enzyme called the 21-hydroxylase. Patients that have 21-hydroxylase deficiency lack the 21-hydroxylase enzyme which then affects the cholesterol conversion to aldosterone and cortisol. When the precursors of these two hormones are stored excessively in the adrenal glands, they are changed into androgens (which are male sex hormones). Whether the patient is male or female, growth development could be hampered because of this deficiency. [read more]
The disorder known as 22q11.2 deletion syndrome is caused by the deficiency or deletion of a tiny piece of chromosome 22. This deletion happens near the midsection of a chromosome located at q 11.2. [read more]
3-Beta-hydroxysteroid dehydrogenase deficiency (3B HSD) is a very rare disorder of the genes involving steroid biosynthesis. This deficiency results into the decrease on the production of adrenal steroid groups which are inclusive of glucocorticoids, mineralocorticoids, and the sex steroids. A decrease on the secretion of mineralocorticoid would result into various salt wasting degrees in males and females. And for the 46 XY males, a deficiency in androgen would result into ambiguous genitals (the females are seen with enlarged clitoris). [read more]
LCHAD or the long-chain 3-hydroxyacyl-CoA dehydrogenase is one of the components of the trifunctional protein of mitochondria. When a person becomes deficient of LCHAD activity, he will soon show various manifestations of his inherited condition. [read more]
3-Methylcrotonyl-CoA carboxylase deficiency is known by many names. It is also called as 3MCC deficiency, Methylcrotonylglycinuria type 1, or BMCC. This is a disorder that can be inherited where the human body becomes incapable of properly processing some proteins. Those who suffer from this deficiency have an insufficient supply of leucine-breaking enzyme. Leucine is an amino acid which is a protein base. [read more]
3-Methylglutaconic aciduria also known as MGA is a term that is used to depict at least 5 varying disorders which makes the body incapable of creating mitochondrial energy. Due to this impairment, 3-methylglutaric acid and 3-methylglutaconic acid create a buildup and their presence can be detected in the patient's urine. 3-Methylglutaconic acid, by classification, is an organic acid. The potency of this acid is made possible by the roles of the double carboxylic acids. The acid function makes the 3-methylglutaconic acid detectable. [read more]
3C syndrome is also known as cranio-cerebello cardiac (CCC dysplasia) or Ritscher-Schinzel (named after Ritscher and Schinzel who discovered the illness) and is a very rare case of disease. This syndrome is characterized by heart defects or heart malformations and other symptoms that involve the brain. As of 2006, a Kuwaiti medical journal showed that only 30 cases have been reported worldwide and these cases were discovered in Europe and North America. Due to the limited number of cases reported, this disease was classified as a rare type of illness. The molecular basis for this syndrome is still unknown. [read more]
47 XXY syndrome is popularly known as the Klinefelter's syndrome, or simply, the XXY syndrome. Chromosome aneuploidy causes the occurrence of this condition. The male patients develop an extra X chromosome. Typically, males should have one each of the X and the Y chromosomes. Patients who suffer from this condition have smaller testicles when compared to their normal male counterparts and thus, they acquire problems on infertility. There are very few symptoms to this syndrome and the cases vary among boys and men. The term for this illness was named after an endocrinologist, Harry Klinefelter. 1942 was the year when he first described the XXY syndrome. The patients who suffer with XXY syndrome are called XXY males or 47,XXY males. [read more]
The XYY syndrome should never be interchanged with the XXY syndrome which is popularly known as the Klinefelter's syndrome. XYY syndrome is a condition when a male patient acquires an extra Y chromosome in addition to the normal one X and one Y chromosomes. It is often argued whether the term ?syndrome' should be used in connection to the XYY condition since the patients' phenotypes are normal and they do not have knowledge of their karyotype. [read more]
48 XXXX syndrome is a very rare disorder of the chromosomes where the normal XX combination becomes a quadruple X grouping. This condition is also called tetrasomy X, 48, XXXX or quadruple X and is only seen among females as there is no Y chromosome involved. The first occurrence of this disorder was discovered in 1961 and since then, there are about 100 reported cases globally. [read more]
Previously known to be a variant or type of the Klinefelter's syndrome, this condition is an anomaly of the sex chromosome. The features usually include gynecomastia (having enlarged male breasts), ulcers of the skin, deformed craniofacial features, and being unusually tall. It is also believed to affect 1 in every 17,000 male babies that are born. XXYY is just one of the many variations of chromosomal defects which include the following: 47 xxy, xy, xxxxy, and xxxy; also the xyy. These syndromes affect males whereas female counterparts include the Turner syndrome and other varieties with added X chromosomes. [read more]
Aagenaes syndrome is a condition which is characterized by inborn hypoplasia of the lymph vessels. This eventually causes recurring cholestasis on the formative years lymphedema on the legs. This could develop into hepatic cirrhosis and giant cell hepatitis (which could occur with portal tract fibrosis). The name of Aagenaes syndrome was derived from a pediatrician in Norway named Oystein Aagenaes. The name was finalized in 1968 when the condition was first described by Aagenaes. It is sometimes called cholestasis-lymphedema syndrome or simply CLS. [read more]
Aarskog Ose Pande syndrome is a rare type of medical disorder where the main symptoms include lipodystrophy on the buttocks and face. Since this is an adipose tissue defect, the loss of body fat in the body could get severe and this state could progress extensively. There are three kinds of lipodystrophy: localized lipodystrophy, partial lipodystrophy and total lipodystrophy. One other symptom is Rieger anomaly. This anomaly is characterized by the absence or underdevelopment of teeth (it could also mean the delay of tooth eruption) and some abnormalities of the eyes and face. Having sparse hair is also a common sign. This does not only mean hair on one's head but also body hairs. Other defects include retardation of bone age and abnormal motion of the joints (which could eventually lead to dislocation). This syndrome could begin to affect the patient as early as the fetal stage. It could ruin the growth of the fetus in the uterus by slowing its development. When this happens, many other systems are affected. Development of the patient's skills on speech could also be delayed when this disorder is acquired. This and all other symptoms are similar to characteristics of many other diseases that is why the physician should perform a thorough checkup of the patient to be able to diagnose the real condition. Aarskog Ose Pande syndrome is also considered as a variant of Short syndrome. This symptom does not only mean having a short stature but also having low weight at birth and fat losses on the skin. [read more]
Aarskog syndrome is an inherited disorder that is often characterized by abnormalities of the face, short stature, genital abnormalities and mucoloskeletal anomalies. [read more]
Defects of the abdominal wall are comparatively common fetal abnormalities. It occurs in about 1 in every 2,000 births. Majority of these defects of the abdominal wall cannot be detected early on in pregnancy. When a defect is detected, it is necessary to pinpoint what type of defect it is so that proper medication and treatments can be done. There are many types of abdominal wall disorders. Some examples include: gastroschisis, omphalocele, esophageal atresia, and duodenal atresia. [read more]
Aberrant subclavian artery is also known as the aberrant subclavian artery syndrome. This condition is a rare anatomical variety of the source of the left or the right subclavian artery. This abnormality has the most number of cases when it comes to the anomaly of inborn vascular aortic arch. The aberrant artery commonly occurs just distal on the left portion of the subclavian artery. It then passes later to the mediastinum when it is on its way to the upper right extremities. This course may be the root cause of a vascular ring about the mediastinal makeup. [read more]
Acanthocytosis is a phenotype of the red cell which can be found in different fundamental conditions. Bassen-Kornzweig syndrome or Abetalipoproteinemia; and an acute disease of the liver (spur cell hemolytic anemia) are the most common conditions that can be associated with acanthocytosis. Acantha is a Greek word for thorn and it is fitting that it is given to name the spur cells that have projections of different sizes which are the acanthocytes. These cells appear to be contracted, irregular, and dense. The formation of these cells depends on the alteration of the fat composition and the fluidity of red cell's membrane. [read more]
The mean age of the start of chorea-acanthocystosis or ChAc is approximately at age 35. There are a few cases, though, where it can occur as early as the initial decade or it can be as late as the 70th year of life. It runs a persistent progressive course and it may end up as a major disability in just a few years. Some patients become dependent on wheelchairs or become bedridden just on the third decade. It is certain that the individual's life expectancy will be reduced; there are even cases of unexplained or sudden deaths when the patient goes through an epileptic seizure. The range of the patients' ages at death is at 28-61 years. [read more]
Accessory pancreas is a medical condition that is rare and in which there are little clusters of pancreatic cells that are distinct from the pancreas. This condition could occur in the mesentery of small intestines, duodenal walls, the upper portion of the jejunum or, in its rarest form?in the stomach walls, spleen, ileum or gallbladder. Accessory pancreas was first observed and described in 1859 by Klob. [read more]
Acheiropodia is a disorder that is autosomal recessive in nature and which results into hemimelia (or the lack of distal extremities formation). This is an inborn defect consisting of aplasia of the patient's feet and hands and also distal lower and upper extremities bilateral amputations. This disease is found almost solely in Brazil. Other terms for this disorder include Acheiropody, Horn Kolb syndrome and Aleijadinhos (the Brazilian kind). [read more]
Marco Fraccaro was the very first person to observe and record the description of achondrogenesis in the year 1952. Fraccaro used this name in description of a stillborn female who was afflicted with acute micromelia and apparent changes on her histological cartilage. This term was then coined to characterize many more acute kinds of chondrodysplasia among humans. The conditions were invariably lethal on pre and post births. When the 70's came, researchers have concluded that the disorder is a part of a heterogenous cluster of chondrodysplasias that are fatal to neonates. Histological and radiological measures have distinguished the achondrogenesis type 1 (which is the Fraccaro-Houston-Harris kind) and the type 2 (or the Langer-Saldino kind). 1983 marked a new radiological category of the disease (Types 1-4). This was done by Gorlin and Whitley and was adapted by the McKusick catalog. This classification describes types 1 and 2 as having similar femoral cylinder indeces (or Clfemur which is calculated as the length of the femur bone divided by the range of the width of the same bone. Both kinds have stellate elongated bones and crenated ilia. Both types 1 and 2 are characterized by several rib fractures. Type 3 has ribs that are non-fractured, mushroom-stemmed elongated bones, halberd ilia, and a Clfemur 2.8 to 4.9. The last type (type 4) has sculpted ilia, long bones that are well-developed, non-fractured ribs and Clfemur measured at 4.9 to 8.0. The late 80's was the time when mutations on the collagen II structure were depicted to cause achondrogenesis type 3 (which might also correspond to type 2). At present, only 3 variants of the disorder have been identified and they are type IA or the Houston-Harris type; type IB (or the Parenti-Fraccaro type); and type II (or the Langer-Saldino type). [read more]
Achondroplasia is a kind of autosomal disorder of the dominant genes which commonly causes dwarfism. Achondroplastic dwarfs are short in stature and their average height when they reach adulthood is at 123 centimeters (about 4 feet and 0.6 inches) for females and 131 centimeters (about 4 feet and 3.8 inches) for males. [read more]
Achromatopsia or ACHM is a condition where the patient is unable to perceive color. Although this name may also be used to refer to acquired defects such as cerebral achromatopsia or color agnosia, it normally refers to a congenital disorder of the vision which is autosomal recessive in nature. It can also be called rod monochromacy or total inborn color blindness. Patients with this kind of disorder manifest total absence of the cone cell activity through electroretinography. At least 4 causes are listed as congenital ACHM: ACHM2 and ACHM3; the third type is a cone photoreceptor transducin called GNAT2, ACHM4; the last cause is still unknown. [read more]
Acid maltase deficiency or AMD is a type of autosomal recessive disorder which is characterized by an extreme buildup of glycogen contained by vacuoles (in almost all cell types) that are lysosome-derived. Quantities of free extralysosomal glycogen that are in excess have also been depicted. AMD was first observed and described by JC Pompe in 1932 at Amsterdam. He reported a case of a baby girl, aged 7 months, who became chronically ill from what they believed to be pneumonia. The autopsy that was done later showed an uncommonly engorged heart but with normal valves. This condition was called cardiomegalia glycogenica diffusa by Pompe. He considered it as a disorder that is analogous to the von Gierke syndrome. This very first article was soon followed by reports that seemed similar. The two other authors described the children as afflicted with cardiomegaly and acute muscle weakness. They died in their early infancy. Their disease was linked to an excess in the deposition of glycogen in numerous tissues. This disorder was then named the Pompe disease and by the year 1957, it was typified as type 2 glycogenosis by GT Cori. [read more]
Isovaleric Acidemia or isovaleric aciduria is an autosomal metabolic illness which prevents or disturbs the normal metabolism of branched-chain amino acid leucine. It is a traditional form of organic academia. [read more]
Propionic acidemia also known as propionic aciduria or ketotic glycinemia is an uncommon metabolic disorder which is characterized by the deficiency of propionyl CoA carboxylase (an enzyme that is involved in breaking down the amino acids). It is categorized as branched-chain organic acidemia which often presents symptoms early on in the neonatal period which comes with progressive encephalopathy. [read more]
Acoustic neuroma also known as a vestibular schwannoma is a primary intracranial tumor that is benign. This is a tumor of the cells that form myelin of the CN VIII or vestibulocochlear nerve. Neuroma is a derivation of a Greek word which means ?tumor of the nerve'. The name ?acoustic' is a misnomer because the tumor hardly occurs from the cochlear or acoustic part of the vestibulocochlear nerve. The precise medical name is vestibular schwannoma. This is because it engages the vestibular part of the eighth cranial nerve and it occurs from schwann cells (the cells that are responsible for the peripheral nervous system myelin sheath). [read more]
Acquired immune deficiency syndrome also termed as acquired immunodeficiency syndrome (AIDS) is a compilation infections and symptoms that result from a specific damage to an individual's immune system. This is caused by the human immunodeficiency virus (or HIV) and other similar viruses such as SIV or FIV. The late phase of HIV and AIDS exist to slow down the viral progression. Currently, there is still no cure for this illness. AIDS can be transmitted through direct contacts of the bloodstream or of a mucous membrane with any of the body fluids such as semen, blood, vaginal fluid, breast milk, or preseminal fluid. The modes of transmission could be sexual intercourse, blood transfusion, oral sex, anal sex, or a contact with hypodermic needles that are contaminated with the virus. Another unfortunate means of getting the virus is the exchange of fluids between the baby and its mother during pregnancy. [read more]
Acrodermatitis enteropathica is an autosomal recessive disease which affects zinc metabolism. This is characterized by periorificial (in the region of natural orifices) and in the limbs (acral dermatitis), loss of hair (also known as alopecia), and diarrhea. Having acquired zinc deficiency is somewhat similar to acrodermatitis enteropathica because it, too, can be congenital. The other known terms for acrodermatitis enteropathica are: Brandt syndrome, congenital zinc deficiency, and Danbolt-cross syndrome. [read more]
Acrodysplasia or acrocephalosyndactyly is an uncommon medical condition which is often characterized by a bulbous nose, bony growths, and loose extra skin throughout infancy. This is also a very rare genetic disease. A synonymous word is acrocephalosyndactyly. [read more]
Acrodystrophic neuropathy, also known as Morvan disease, is a rare autoimmune defect characterized by muscle malignancies, severe cramps, myotonia, delirium and insomnia. There are only about 14 recorded cases of the illness disease since it was first discovered. [read more]
Acrofacial dysostosis or Nager syndrome is a term that was coined by Nager and DeReynier in 1948. This condition is described as a syndrome which involves the upper limbs and skull. The most ordinary type of acrofacial dysostosis is the Nager Type (NAFD) of the so-called pre-axial acrofacial dysostosis. Generally, the effects of Nager type acrofacial dysostosis are palpebral fissures that are down-slanted; micrognathia; coloboma of the lower eyelids; and absent or hypoplastic radii or thumbs. [read more]
Acromicric dysplasia is a very rare inherited illness that is often characterized by unusually short feet and hands, retardation of the patient's growth and delays on bone maturation which lead to short stature, and mild abnormalities of the face. The face often appears with a happy or ?smiling' expression thus the descriptive word geleophysic which is derived from the Greek word ?gelios' which means ?laughing' and ?phylis' meaning ?nature'. Most of the number of cases for this illness has occurred in random for no obvious reason (sporadic). It has not been ruled out, though, that this is an autosomal dominant inherited disorder. The disease database clearly indicates that acromicric dysplasia is similar to Geleophysic dwarfism (also known as Geleophysic dysplasia) and Focal mucopolysaccharidosis. [read more]
Actinic keratosis also known as solar keratosis, even AK is a premalignant condition of the skin where the signs include crusty, scaly, thick patches. This disorder is common among fair-skinned individuals who are often exposed under the sun (white people have less protection from their skin's pigment). This condition is often accompanied by damage made by the sun. Since a few of these are pre-cancer carcinomas, they should be attended to immediately. When a person's skin is exposed under the sun, the signs such as crustiness and thickness begin to appear. These bumps are often rough and dry and they start out as flat areas but soon develop into something tough which often resembles a wart. Actinic keratosis is about 2.0-6.0 mm. in range and they can be light or dark, pink or tan, it can even be red in color or it can be a combination of all the mentioned colors. It could appear on the areas that are exposed under the sun such as the chest, back, ears, neck, face, scalp, forearms, hands, and lips. [read more]
Actinomycosis (pronounced ak-tuh-nuh-my-KOH-sihs) is a rare and infectious bacterial disease among humans. This is generally caused by Propionibacterium propionicus and actinoyces israelii, A.gerencseriae. This condition is unlikely a polymicrobial infection. Actinomycosis is a sub-acute to chronic bacterial disease which is caused by the filamentous, anaerobic to microaerophilic, and gram positive bacteria that are non-acid fast. [read more]
Activated protein C resistance is a hemostatic disease which is characterized by a reduced anticoagulant response to APC or activated protein C. The result is a heightened risk of venous thrombosis. The activated protein C resistance or APCr was first studied and reported by Dahlback in 1993. Activated protein C with protein S as its co-factor degrades Factor VIIIa and Factor Va. Activated protein C resistance is the failure of protein C to cleave Factor VIIIa and/or Factor Va. This permits for a longer extent of thrombin generation and could proceed to the hypercoabulable phase. The most common form of hereditary resistance to activated protein C is Factor V Leiden. Acquired types occur together with elevated concentrations of Factor VIII. It has been evaluated that up to 64% of people who are afflicted with venous thromboembolism could also have activated protein C resistance. [read more]
Acute articular rheumatism is a rare and non-contagious medical condition brought about by a bacterial joint infection that can possibly come with a heightened risk of the development of heart complications. Adults are the common victims affected by this disease. However, statistics have shown that less than 200, 000 Americans are afflicted with this condition, which explains why it is categorized as a rare disease. [read more]
Acute erythroblastic leukemia is also known by other medical terms such as erythremic myelosis, erythroleukemia and the DiGuglielmo syndrome, which is the uncontrolled production of immature and undeveloped erythrocytes, more popularly known as the red blood cells. This type of leukemia is a rare form of cancer that originates from the marrow and blood. [read more]
Acute mountain sickness, or more popularly known as altitude sickness is a pathological condition which is caused by exposure to very low air pressure. This is common in outdoors with high altitudes, usually above 8,000 feet. This is caused by a reduction of partial pressure in the oxygen. [read more]
Acute necrotizing ulcerative gingivitis or ANUG is characterized as a plymicrobial infection of the patient's gums that normally leads to bleeding, inflammation, necrotic gum tissue and deep ulcerations. Patients with this condition also suffer from fever and halitosisi. ANUG is also known as Vincent's angina, a popular term whioch was coined in WW1 when a great number of soldiers suffered from this condition. [read more]
Acute respiratory distress syndrome (ARDS), also known as respiratory distress syndrome (RDS) or adult respiratory distress syndrome, is a serious reaction to various forms of injuries to the lung. This is the most important disorder that is caused by an increased permeability pulmonary edema. ARDS is a severe lung disease caused by different direct and indirect issues. It is marked by inflammation of the lung parenchyma leading to impaired gas exchange with concomitant systemic release of inflammatory mediators causing inflammation, hypoxemia and frequently resulting in multiple organ failure. This condition is life threatening and often lethal, typically requiring mechanical ventilation and admission to an intensive care unit. A less severe form of this disease is called acute lung injury (ALI). ARDS most commonly signified adult respiratory distress syndrome to differentiate it from infant respiratory distress syndrome in premature infants. However, as this type of pulmonary edema also arises in children, ARDS has gradually shifted to mean acute rather than adult. The differences with the typical infant syndrome remain the same. [read more]
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) is a rare hereditary disease that is the result of the lack of an enzyme required to convert fat to energy. People with MCADD cannot refrain from eating for very long. Fasting starts after the body has used all the food that the person has eaten, then begins to use the body's own fat to make energy. When people with MCADD fast, they can experience a variety of serious life threatening symptoms or even death. Persons with MCADD cannot utilize this fat to make energy, consequently, the body begins to fail and malfunction once the food the person has eaten runs out. [read more]
Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) is a rare autosomal recessive condition in which the body fails to oxidize fatty acids because an enzyme is either missing or not functioning correctly. Long-chain 3-hydroxy acyl-coenzyme A dehydrogenase (LCHAD) is 1 of 3 enzymatic activities that comprise the trifunctional protein of the inner mitochondrial membrane. The other 2 activities of the protein are long-chain 3-ketoacyl CoA thiolase (LCKT) and 2-enoyl coenzyme A (CoA) hydratase (LCEH). The protein is an octamer made up of 4 alpha subunits that contain the LCEH and LCHAD activities, and 4 beta subunits that contain the LCKT activity. This enzyme complex helps metabolize long-chain fatty acids, and the LCHAD activity is specific for compounds of C12-C16 chain length. The genes for the alpha and beta subunits have been traced to chromosome 2. Affected infants with LCHAD deficiency, which is inherited as an autosomal recessive trait, arise in infancy with acute hypoketotic hypoglycemia. These episodes usually appear for the first time after a fast, which usually occurs in the context of intercurrent illness with vomiting. [read more]
Short Chain Acyl-CoA Dehydrogenase Deficiency (SCADD) is a condition in which the body fails to oxidize fatty acids because an enzyme is either missing or not functioning correctly. Short-chain acyl-coenzyme A (CoA) dehydrogenase deficiency (SCAD) is a rare condition that stops the body from converting certain fats into energy, especially during periods without food (fasting). People affected with this disorder are not able to break down a certain group of fats called short-chain fatty acids efficiently. Some affected infants will display vomiting, low blood sugar (hypoglycemia), a lack of energy (lethargy), poor feeding, and failure to gain weight and grow at the expected rate (failure to thrive). Other features of this disorder may include poor muscle tone (hypotonia), developmental delays, seizures, and a small head size (microcephaly). The symptoms of short-chain acyl-CoA dehydrogenase deficiency may be activated by periods of fasting or during illnesses such as viral infections. In some cases, signs and symptoms may not exhibit themselves until adulthood, when some individuals may develop muscle weakness and wasting. Other people with gene mutations that can lead to this disorder may have such mild symptoms that they are never diagnosed. [read more]
Ad14 otherwise known as the Adenovirus Serotype 14 medical condition that is said to be a mutated form of the common cold. [read more]
Addison Anemia is a medical condition caused by the malabsorption of Vitamin B-12 and is relatively common form of anemia. [read more]
Addison's disease (also known as chronic adrenal insufficiency, hypocortisolism or hypocorticism) is a rare endocrine disorder in which the adrenal gland produces inadequet amounts of steroid hormones (glucocorticoids and often mineralocorticoids). It may arise in children as well as adults, and may occur as the result of a large number of underlying causes. The condition is named after Dr Thomas Addison, the British physician who initially described the condition in his 1855 On the Constitutional and Local Effects of Disease of the Suprarenal Capsules. The adjective "Addisonian" is used for features of the condition, as well as individuals with Addison's disease. The condition is typically diagnosed with blood tests, medical imaging and additional investigations. Treatment is with replacement of the certain hormones (oral hydrocortisone and fludrocortisone). If the disease is the result of an underlying problem, this is addressed. Regular follow-up and monitoring for other health problems is required. [read more]
Adducted thumb syndrome recessive form, also known as Christian syndrome or Craniostenosis arthrogryposis cleft palate, is a rare disease that affects multiple systems which causes malformations of the palate, thumbs, and upper limbs. [read more]
Adenocarcinoma of the lung (or lung cancer) is the leading cause of cancer deaths in both women and men in the United States and throughout the world. Lung cancer has beaten breast cancer as the leading cause of cancer deaths in women. In 2007, 160,390 people were projected to die from lung cancer in the United States, which is more than the number of deaths from colorectal, breast, and prostate cancer combined. Only about 2% of those diagnosed with lung cancer that has spread to other areas of the body are living five years after the diagnosis, although the survival rates for lung cancers diagnosed at a very early stage are higher, with approximately 49% surviving for five years or longer. Cancer arises when normal cells undergo a transformation that causes them to grow and multiply without the normal controls. The cells form a mass or tumor that varies from the surrounding tissues from which it arises. Tumors are dangerous because they take nutrients, oxygen, and space from healthy cells. [read more]
There are four types of congenital adrenal hypoplasia that have been recognized and they are the following: an X-linked type or the OMIM 300200 which is caused by a deletion or mutation of the AHCH gene or the DAX1 gene (found in the X chromosome dosage-receptive sex reversal adrenal hypoplasia congenital vital region). This type is often linked with hypogonadotropic hypogonadism. It might be a component of an adjacent deletion of chromosome (this may include congenital adrenal hypoplasia, OMIM 310200 or the Duchenne muscular dystrophy and OMIM 307030 or glyce3rol kinase deficiency; the second type is the autosomal recessive type and it is caused by a deletion or mutation of the gene which is responsible for coding for SF-1 or steroidogenic factor 1 on OMIM 184757 or chromosome 9q99. This type is also linked with hypogonadotropic hypogonadism; The third type is an autosomal recessive type. This type has a vague etiology (or OMIM 240200); The fourth type of adrenal hypoplasia which is linked with the retardation of intrauterine growths, genital defects, and metaphysical dysplasia is the OMIM 300290 or the IMAGe (intrauterine growth retardation, metaphysical dysplasia, adrenal hypoplasia congenital, genital defects) association. The X-linked type adrenal hypoplasia congenital is a disease which is mainly acquired by males. It usually involves several endocrine tissues of the body most especially the gmall glands above the kidneys or the adrenal glands. The characteristics that often manifest are a reduction in the function of the adrenal gland; hypoglycemia; dehydration, feeding difficulties; and shock. Other male patients might also be sexually underdeveloped. The females who are rarely affected also have adrenal insufficiency and a deficiency of sex hormones. [read more]
An adrenal incidentaloma is an adrenal mass which is seen during the imaging for other causes that are non-adrenal related. This means that the lesion was discovered serendipitously. Adrenal incidentaloma is the most common adrenal disorder and it is found during 1-5% of CT scans for the abdomen. 5-10% of patients who are diagnosed with adrenal incidentaloma have masses that are non-functioning (this is based on postmortem examinations). This disease affects both males and females with most of the incidentalomas being hormonally inactive and benign. There are only a few numbers of cases where adrenalectomy is required (and this is done only when the lesion becomes functioning and malignant). The diagnostic assessment often evaluates the hormonal activity of the lesion and if it is malignant. Assessment of functions require plasma dihydroepiadosterone; urinary catecholamines for 24 hours and metanephrines; a low dosage of a test of dexamethasone suppression; serum ACTH; standing serum renin to aldosterone ration for hypertension and hypokalemia. The evaluation of the danger of malignancy requires MRI or CT scans; on CT lesions that are malignant are not regular, non-homogeneous and have great attenuation; for lesions that are MRI malignant, an clear concentration on T2 weighed image; it may also be useful to have CT guided cytology; there is also a need to exclude paechromocytoma before this procedure; [read more]
There are two classifications for adrenal insufficiency and they are: primary and secondary. The primary adrenal insufficiency happens when the adrenal gland dysfunctions. The secondary adrenal insufficiency which is also named central adrenal insufficiency happens there is a lack of CRH secretion or the corticotrophin-releasing hormone from the hypothalamus; or it could be the lack of ACTH secretion which is the corticotropic hormone from the pituitary. The second type leads to adrenal cortex hypofunction. Further classifications include acquired and congenital. [read more]
Adrenocortical carcinoma also called as ACC or adrenal cortical carcinoma and adrenal cortex cancer is a cancer that is aggressive which originates from the cortex (a tissue that produces steroid hormones) of the adrenal gland. Adrenocortical carcinoma is a tumor that is rare with an incidence of 1-2 in every 1,000,000 individuals annually. ACC has a bimodal allocation by age (most of the cases cluster among children that are under the age of 6 and in adults at 30-40 years of age). ACC can result into many syndromes such as Cushing's syndrome, virilization, Conn syndrome, and feminization. It also commonly metastizes or invades neighboring tissues and the survival rate is estimated at only 20-35%. [read more]
The more proper term for adrenogenital syndrome is congenital adrenal hyperplasia or CAH. This refers to numerous other autosomal recessive disor which result from biochemical paths of cortisol setoidogenesis from cholesterol done by the adrenal glands. Most number of these conditions could have lesser or greater sex steroid production and they can alter primary or secondary sex characteristic development among adults, children and infant patients. Only a few cases of people with CAH can be appropriated with intersex condition although this attracted the attention of the American public in the 90's and since then, there have been various accounts that have been circulated. It is estimated that 95% of CAH cases are caused by 21-hydroxylase deficiency. Conditions Caused by CAH The most common conditions that are caused by adrenogenital syndrome are: ambiguous genitals (in some female patients wherein it can be initially hard to know the exact sex of the infant); salt-wasting that causes vomiting (which may lead to dehydration and eventually?death); the early appearance of pubice or the occurrence failure or the delay of puberty (including sexual infantilism); too much facial hair; virilization; irregular menstrual periods during the adolescent stage; infertility caused by anovulation; and hypertension. [read more]
Adrenoleukodystrophy is also known as ALD, Sudanophilic leukodystrophy and Schilder's disease. This is a rare disorder that is inherited which often leads to progressive damage of the brain, adrenal gland failure and eventually, death. ALD belongs to a group of disorders that are inherited which are called Leukodystrophies. Leukodystrophies often progressively destroy the myelin (a complex fatty neutral tissue which insulates numerous nerves of the peripheral and central nervous systems). The absence of myelin intensifies destruction. Patients of this disorder have a missing essential protein called the transporter protein. The transporter protein is needed in carrying an enzyme (the one used in breaking down long chain fatty acid in a normal person's diet). A long chain fatty acid accumulation can bring about brain damage and adrenal gland damage. Usually, the patients of ALD are males who inherit the X-linked disorder. Leudodystrophies are not similar to demyelinating diseases like multiple sclerosis where the myelin is normally formed but is eventually lost through immunologic dysfunction or for other causes. [read more]
Adrenomyodystrophy is a rare genetic disease which is often characterized by chief adrenal insufficiency, acute psychomotor retardation, dystrophic myopathy, and an acutely swollen bladder which can result into death. [read more]
Still's disease was first discovered as a type of juvenile idiopathic arthritis that is common among children but is now also discovered to have a few cases in adults. The adult type is called the adult onset Still's disease (or AOSD). AOSD was first described by an English doctor in 1971. The physician's name was Bywaters who is also famous for his work on the crush syndrome. There are varying theories as to the cause of Still's disease. There is a suggestion that it originated from a microbacterial infection. To this day, the cause of the illness remains unknown. It is more securely established that the disorder's pathogenesis is autoimmune. [read more]
Agammaglobulinemia is also called hypogammaglobulinemia. It is the most ordinary type of primary immunodeficiency which accounts to about 50% of all the cases. The three major kinds can be defined as: early onset, late onset, and X-linked. It was only after more than 50 years since the clinical manifestation was first recorded in 1952 by a certain Bruton. He described that the defect on the molecule in XLA or X-linked agammaglobulinemia has been explicated. To honor Bruton, the responsible gene was named Btk which means Bruton tyrosine kinase. It is estimated that 90% of the patients with the early-onset kind of agammaglobulinemia and the lack of B cells have defects on their Btk genes. The late-onset type is often referred to as the CVID or Common Variable Immunodeficiency. The last type is the early-onset non-Bruton agammaglobuliemia with absent or just low serum immunoglobulin (or Ig). Most of the cases are representative of a very heterogenous group which includes Ig deficiency with an increase in immunoglobulin M or hyper-IgM syndrome. There are also some infants who have an initial reading of low Ig level which soon increases to the normal level. This is named as Transient Hypogammaglobulinemia of infancy. Currently, the production of defective antibodies and the low circulation of a number of B cells were descriptive of some female infants and some males who do not have any Btk defects. These records imply the participation of other genes. [read more]
Aging, also known as the cycle of life, is any form of change of an organism as time passes. There are many dimensions to aging such the physical, psychological, mental, and emotional aspects. For example, the time of reaction of a human being is lessened or slowed as he ages while his wisdom and knowledge of facts may improve. There should be a distinction between universal aging (where all people go through) and probabilistic aging (which is a type of aging that occurs only to some and not all individuals). An example of probabilistic aging is the manifestation of diabetes mellitus. Chronological aging refers to the actual age of an individual and it can clearly be distinguished from social aging (where the society expects people to behave in accordance to their age and status). The third type of aging is biological aging (which is the person's physical state as he ages). Age measurement is done through entire years or months in the case of infants. An individual's birthday is often a significant event. As to mental aging, it is a bit more challenging to categorize individuals under this type because an older person does not guarantee mental or emotional capacities that are greater than the younger generation. [read more]
Agoraphobia is usually referred to as "fear of open spaces" though this explanation is simple and confusing. Agoraphobia is like an irrational fear or anxiety related with unknown environment or events or situations though this explanation also oversimplifies a complicated topic.. Panic attacks from panic disorder, usually causes agoraphobia to arise in several situations and the fear of places or situations happen when these were the reasons of the panic attacks. Agoraphobia in other words is the ?fear of having another panic attack? or simply the fear of something or somewhere that may cause a panic attack. A violent sequence situates in where worry or fear of certain places or circumstances create a panic attack more possible to happen, which in turn elevates the level of anxiety. No matter what the explanation is, agoraphobia can not be only put pressure emotionally but it can really turn to be devastating which results to a life of self-imposed loneliness. [read more]
Aicardi syndrome is an unusual abnormality syndrome distinguished by the lack of a major structure in the brain referred to as corpus callosum, the existence of abnormalities in the retina adn seizures in the form of immature spasms. An X-linked dominant trait is inherited in Aicardi syndrome that is fatal in males. [read more]
AIDS means Acquired Immune Deficiency Syndrome which means that the person may get infected by the disease and it will then cause a weakening of his system that resists or fights disease. The disease is caused by the Human Immunodeficiency Virus or HIV. When the person gets infected by the virus, and the body creates its own ?antibodies? to fight off the infection, it is when he is called HIV positive. Thus, the person is called HIV positive when he has these HIV antibodies. However, being HIV positive is different from having AIDS. It is common to find HIV positive person who have lived for many years without getting AIDS although AIDS is generally developed from HIV. A person may get infected with HIV through different ways, such as through blood infection and through semen or vaginal fluids. Thus, having sex with a person with HIV, receiving blood or using the same syringe with the person with HIV may result into getting infected. A child usually gets infected with HIV if the mother has the virus. According to the Center for Disease Control and Prevention (CDC) it is estimated that there are around 1.2 million persons in the US are infected with HIV virus or have AIDS. Despite the number, the death rate due to AIDS has been reduced significantly since the time when it was the leading cause of death in the 90s. This is because of the new treatments available at present. HIV becomes AIDS when the immune system of the person infected with HIV is severely damaged. Thus, a person with no more than 200 CD 4 cells (less than 14% CD4 cells) in his body has AIDS. IF the person has AIDS he is more likely to get Pneumocystis pneumonia (PC), a certain lung infection; a Kaposi's sarcoma, a skin cancer; a Cytomegalovirus or infection affecting the eyes and Candida or a fungal infection in the mouth or infections in the throat or vagina. These infections are called opportunistic infections or infections which take advantage of the weak immune system. There is no known cure for AIDS however, at present there are available drugs which slows then development or progress of the HIV virus. At the same time these drugs slows down the effect or the damage done by the HIV to the immune system. There are also other drugs to help the patient treat or prevent the opportunistic infections. The latest drugs available are very effective in reducing the rate of the common opportunistic infections [read more]
AIDS Dementia Complex (ADC) is one of the most common complications of HIV-1 infection. It is severe and is greatly associated with high morbidity. Its pathogenesis is still a mystery although as compared with other opportunistic infections of HIV, it is believed to be caused directly by the HIV-1 virus. ADC was first seen alongside the AIDS epidemic. As with the term, there is the persistent cognitive deterioration which not only affects the intellect of the patient but including the motor complex and behavior. Also, myelopahty is an important aspect of the ADC. The moment the patient is diagnosed with the ADC, it is staged according to the ADC Staging System. The staging is composed of five steps which are based on the cognitive and motor incapacity of the patient. The earlier stage is when there are neurologic symptoms but without the functional impairment and the advanced stage is when there is severe dysfunction. Generally, ADC affects the patient's cognition, motor skills and behavior. Usually the cognitive and motor skills are the first ones affected and the diagnosis is usually made when the patient manifest impairment of these skills. In a study conducted on the ADC, it was found that ADC is commonly found for those with advanced HIV-1 infection although it is also commonly found in those with preserved helper lymphocyte. This means that immunosuppression has an effect on the development of the complex. According to the data by the Community Programs for Clinical Research on AIDS (CPCRA), ADC is strongly associated with the advanced stage of HIV. Moreover it also showed that there is strong relationship between survival rate and the development of stage 2 and over of ADC. Compared with the mortality rate of Pneumocystic carinii pneumonia, the 6-months cumulative mortality rate of ADC is three times greater. Compared with other neurologic diseases it is almost the same is the 85% rate if PML, 70% of CNS lymphoma and 51% of cerebral toxoplasmosis. The high rate may be attributed to ineffectiveness of antiviral treatment, the vulnerability of neurologic debility and the hopelessness attitude of the caregivers. According to the most recent studies the HIV-1 plays a significant role in the development of ADC particularly those with severe cognitive dysfunction. It was found that it is due to the production of the macrophages and microglia by the HIV-1, which affects the neuronal dysfunction. There is also the activation of the cytokine circuits and the neuropahtologic sequelae which causes neurotoxicity. By identifying these factors doctors may soon find effective treatment for ADC. [read more]
Ainhum is a disease characterized by painful constriction of the fifth toe. This generally leads to amputation after a few years. Ainhum is more common among black African descents. It is commonly found among the blacks in West Africa, India and South America. The first recorded incidence of the disease is in 1867 by J.F. da Silva Lima. He described the disease suffered by one of the tribes in Brazil, the Nagos, who gave the disease its name. It is very rare in Europe and only a few incidences have been reported. It is also more common among those in between 20 and 50 years of age, with the average in 38 years of age. The youngest patient in record to have Ainhum is seven years old. The cause of the disease is still being studied. At present though, scientists have found that it is not caused by fungi, virus, parasite, bacteria and injury. Although it linked with walking barefoot during childhood, the disease is also found among those who have not gone barefoot. Among all the predisposing factors, race has been found to be on top of the list and thus scientists believe that it has some genetic component. Scientists believe that the disease is caused by the abnormal blood supply on the foot. Angiography of the peripheral limb has shown that the tibial artery may have become attenuated at the ankle and that there is noticeable absence of the plantar arch and branches. There are four stages of ainhum: the Grade I, wherein there is the presence of the groove; Grade II, wherein the floor of the groove is ulcerated; Grade III, wherein the bone is involved; and Grade IV wherein autoamputation occurs. In about 78% of the cases there is the presence of pain. For those in the early stage the pain may be slight and may have been caused by the pressure on the nerves. For those in the advanced stage, the pain is quite severe which is caused by chronic sepsis or fracture of the phalanx. Ainhum is commonly confused with diabetic gangrene, scleroderma, leprosy, Vohwinkle syndrome and leprosy. The pain is the symptom of the ainhum and it is a progressive condition. For the treatment of the ainhum, for the Grade I and II excision of the groove and z-plasty has been proven to relieve pain and prevent autoamputation. For the Grade III disarticulating the metatarsophanlangeal joint has been proven to be as effective. [read more]
Alagille-Watson syndrome (AWS) is one of the genetic disorders which affect the different systems of the body including the heart and the liver. The symptoms of the AWS are usually manifested during early childhood or infancy. It is hereditary and its prevalence rate is 1 in every 70,000. The symptoms if AWS varies per family that in some cases it is so mild that the symptoms are unnoticeable while in some cases the symptoms may be as severe as to require transplantation of the heart. When the symptom is liver damage, the patient may have Alagille syndrome which includes yellowing of the skin and whites of the eyes, xanthomas, itching and bile duct paucity. The patient may also have congenital heart problem and kidney problems. In other less common cases, the central nervous system is affected. As for the physical manifestation, those with AWS have the same facial features which includes broad forehead, small and pointed chin and deep-set eyes. The Alagille-Watson Syndrome is caused by the mutation in the JAG1 gene. This gene plays an important role in the signaling of cells during the embryonic development. The mutation of the gene then disrupts the signaling and thus it causes developmental errors of the body's system, such as the heart, liver, spinal column and facial features. In those with liver problems caused by the AWS, the bile ducts are narrowed and malformed. This then results in bile build ups and scarring which prevents the proper elimination of wastes in the blood. Usually the child inherits the altered gene from one parent although there are cases wherein the patient develops mutations of the gene. At present, there is still no known cure for the AWS and the treatment given to patients are targeted to the improvement of the affected system of the body, such as improvement of heart or liver condition. At the same time, the treatments are aimed also at reducing the effects of the affected system. For those with liver problems caused by AWS, there are several medications which are effective in improving the bile flow and in reducing the itching and this include Actigall, Atarax, Rifampicin, Cholestyramine and Phenobarbitol. Of course the effectiveness of the medication varies per patient. Doctors also recommend the high dosage of multivitamins especially vitamins A, D, E and K, since with the damage to the bile ducts the body will have difficulty absorbing these important vitamins. For those with heart defects caused by AWC, corrective surgery is sometimes necessary. [read more]
The Albers-Schonberg disease is one of the most common types of osteopetrosis. It has been found that it is caused by the mutation in the CICN7 chloride channel gene. Those who have Albers-Schonberg disease, have bone cells, osteoclats, not functioning normally. These osteoclats are responsible for the breaking down of old bone tissues so that new ones will grow. In case of the disease, the osteoclats do not break the old bone tissues which then results in overgrow of the bones in the body. These overgrown then become very brittle and break easily. In the United States, it is estimated that around 1,250 persons have osteopetrosis. There are different forms of osteopetrosis and the most severe type is very rare that in the United States, there are only about 8 to 40 cases reported each year. The malignant infantile osteopetrosis is a severe form of the disease. It affects the child even when she is still in the womb. When the baby is delivered, the bones of the shoulder usually break. The baby with malignant infantile osteopetrosis has low calcium, has pressure on the optic nerve in the brain and experiences frequent bone fractures. About 75% of those affected with this disease will develop anemia and thrombocytopenia. If not treated, the child is not expected to live beyond the age of 10. Children have the disease when the parents have the abnormal genes even though they may not have the symptoms. The transient infantile osteopetrosis is the same as the infantile osteopetrosis except that in this case the patient heals on her own without treatment. The adult benign osteopetrosis is what is originally called the Albers-Schonberg disease. The disease is named after the man who first recorded or described the disease. The disease is generally mild and is more common among those in between the age of 20 and 40. One of the most common manifestations of the disease is frequent bone fractures and difficulty healing them. In some cases bone infections, degenerative arthritis, headache and pain may also be experience by those with the disease. The disease may be inherited from the parent with the defective gene and children of parents with the Albers-Schonberg disease have about 50% chance of having the same defective gene. The intermediate osteopetrosis is more common among children below the age of 10. The symptoms is almost the same as the malignant infantile osteopetrosis although less severe. It is believed that it is inherited the same way as the malignant infantile osteopetrosis. [read more]
In 1937, Donovan James McCune and Fuller Albright explained Albright's syndrome as an inherited condition distinguished by abnormalities in the skin pigmentation, bone ailments and endocrine complications. The diseases in the bone may result to the weakness of the bone and abnormalities in the legs, arms and skull. Diseases in the endocrine may the reason for early puberty and elevated growth rate. Patients are affected by several distinctiveness of the ailment to various degrees several individuals may have the condition and have no evident complications. [read more]
Alopecia Universalis, also known as ?Alopecia areata universalis? is a condition that involves rapid loss of all hair, including eyelashes and eyebrows. Alopecia universalis is the most serious type of alopecia areata, affecting only 1 person in 100,000. [read more]
Named after Bernard Jacob Alpers, Alper's disease is a progressive degenerative disease that affects the central nervous system. Also called progressive sclerosing polidystrophy, progressive infantile poliodystrophy, progressive neuronal degeneration of childhood and Alpers' syndrome, this autosomal recessive disorder only occurs in infants and children, sometimes in siblings. [read more]
Alpha 1-antitrypsin deficiency, also known simply as Alpha-1 or A1AD, is a genetic disorder caused by the defective production of ?alpha 1-antitrypsin?. When this happens, the blood and lungs receives insufficient amounts of A1AT while the liver cells receive excess amounts of A1AT proteins. Serious cases of Alpha-1 cause emphysema in most patients with this condition. Children and adults may experience liver diseases. Treatments of this disease include intravenous A1AT protein infusions, liver or lung transplants and avoidance of dangerous inhalants. People of Iberian, Saudi Arabian and northern European ancestry are more at risk of having A1AD. [read more]
Alpha-mannosidosis is an ?autosomal recessive metabolic disorder? that leads to physical and mental deterioration. When the a-mannosidase enzyme becomes defective, it causes impaired cell function and sugar buildup. Since this enzyme normally helps in breaking down complex sugars, absence of this functional enzyme may lead to death on children caused by deterioration of the central nervous system. [read more]
In this condition, ?a thalassemias? involve genes HBA1 and HBA2, which occurs due to Mendelian inheritance in a recessive fashion. Alpha-thalassemia is also connected to the deletion of 16p chromosome. Alpha-thalassemia results in a decrease in alpha-globin production that causes a decrease in the production of alpha-globin chains. As a result, an excess of beta chains occur in adults, while an excess of gamma chains occur in newborns. [read more]
Alport syndrome, which first occurred in a British family and identified by Dr. Cecil Alport in 1927, is a genetic disorder characterized by end-stage kidney disease, hearing loss and glomerulonephritis. Hematuria or the presence of blood in urine always occurs in patients with this condition. Some also develop eye problems. [read more]
Alstrom syndrome is a very rare genetic disorder ? one of the rarest in the world, existing in only 266 reported cases in medical books and only 411 patients in 42 countries. First described by Carl Henry Alstrom in 1959, this condition is usually mistaken with Bardet-Biedl syndrome, which has resembling symptoms. However, the Bardet-Biedl syndrome usually have later onset with its symptoms. [read more]
(ACD) is defined as a lethal evolving anomaly of the pulmonary vasculature. It is normally illustrated as the miscarriage of the normal air-blood diffusion barrier in the newborn lung. It is usually supplementary with the misalignment of the pulmonary veins. [read more]
Alveolar soft part sarcoma or ?ASPS?, which was first identified in 1952, is an extremely rare type of soft tissue sarcoma, a slow-growing tumor that occurs mainly in children and young adults. ASPS is a highly angiogenic disease, which involves an intensive production of new blood vessels connecting the tumor to the blood and enabling dissemination of tumor cells into the bloodstream. Because of this, tumor cells can easily transfer into various parts of the body, usually affecting the brain and lungs. ASPS is a sarcoma that affects soft tissues that connects and supports organs and structures of the body. It usually develops in the deep soft tissues and muscles of the leg or thighs, but could also appear in hands, head and neck. However, it could also spread and develop inside bones. [read more]
Extrinsic allergic alveolitis (EAA), also known as hypersensitivity pneumonitis, is an inflammation of the alveoli found in the lung. This condition is caused by hypersensitivity to various types of inhaled organic dusts. People with this disease are usually exposed to dust from their hobbies or occupations. Several types of extrinsic allergic alveolitis exist based on the provoking antigen. These include Bird-Breeder's Lung (avian proteins), Farmer's Lung (molds), Bagassosis (moldy bagasse or sugarcane), Malt Worker's Lung (moldy barley), Humidifier Lung (by mist of standing water). Mushroom Worker's Lung (mushroom compost), Compost Lung (compost), Peat Moss Worker's Lung (peat moss), Suberosis (moldy cork dust), Japanese Summer-Type HP (damp wood and mats) and Cheese-Washer's Lung (cheese casings). Other types of EAA include Hot Tub Lung, Mollusc Shell HP, Metalworking Fluids HP, Isocyanate HP, TMA HP, Beryllium and Wine-grower's Lung. The most common of all EAA are Bird-Breeder's Lung and Farmer's Lung, affecting 8 to 850 people in 100,000 persons each year for farmers alone and 6,000 to 21,000 people in 100,000 persons for pigeon breeders yearly. [read more]
Familial Alzheimer's disease (FAD) is a very rare form of Alzheimer's disease that affects people aged 20 to 65. This condition is inherited in an ?autosomal dominant fashion?. As its name suggest, Familial AD occurs in patients with 2 or more first-degree relatives with AD history. However, only 5% of the total Alzheimer's disease account to familial AD. Emil Kraepelin first identified the symptoms of FAD, while Alois Alzheimer observed the characteristic neuropathology of FAD in 1906. [read more]
Alzheimer's disease, which is named after Alois Alzheimer, is a neurodegenerative disease that occurs in people aged 65 and over. This disease is the most common cause of dementia, affecting over 20 million people worldwide. Once Alzheimer's has been diagnosed, the life expectancy of patients is around 7 years. Only 3% of patients live for more than 10 years. [read more]
?Amaurosis? is a Greek word that means obscure, dark or darkening. As its name suggest, Amaurosis is vision loss or a weakness that develops without any apparent lesion, affecting the eyes. Amaurosis can be a result from a medical condition, while some are acquired from excess acceleration, such as in flights. [read more]
Amblyopia, commonly known as ?lazy eye?, is a visual system disorder characterized by poor vision in one of the eyes. However, the affected eye remains physically normal or out of proportion. This condition affects 1% to 5% of the global population. Poor or no transmission of the visual images to the brain causes lazy eye. This condition usually affects only one eye, but it could occur in both eyes if both are similarly deprived of clear visual images. However, if detected early in life, the chance of successful treatment increases. [read more]
Ambras syndrome is a genetic condition characterized by excessive hair throughout the body. It is also known as ?hypertrichosis lanuginosa?, congenital hypertrichosis universalis and congenital hypertrichosis lanuginose. Ambras syndrome affects only one person in 1 billion people. Less than 40 cases of Ambras syndrome have been documented worldwide. This condition is said to have genetic component with family histories of Ambras syndrome being reported in relation to affected patients. In the 19th century, people suffering from Ambras syndrome perform in sideshow acts or circuses. People described as ?wolfmen? or ?werewolves? due to their excessive hair growth are most likely sufferers of Ambras syndrome. [read more]
Amelogenesis imperfecta is a disorder of a person's tooth development, which causes teeth to become discolored, grooved, pitted, prone to breakage, become unusually small and develop other dental abnormalities. This condition produces varying effects and can affect both baby teeth and permanent teeth. Fourteen types of amelogenesis imperfecta exist. Each type is distinguished by specific dental abnormalities present. All types of amelogenesis imperfecta can affect any number of teeth. People with amelogenesis imperfecta develop teeth with abnormal color, such as grey, brown or yellow. Their teeth have greater risk of developing cavities and become hypersensitive to changes in the temperature. It is estimated that 1 in 14,000 people in the U.S. and 1 in 700 people in Sweden suffer from amelogenesis imperfecta. However, the exact incidence of this condition remains uncertain. [read more]
Anaphylaxis, from the Greek words ?ava ana? (against) and ?phylaxis? (protection), is a severe type I hypersensitivity and acute systemic allergic reaction in mammals, including humans. This condition occurs when an animal or person is exposed to an allergen that has already become sensitized. Large amounts of this allergen may cause a life-threatening reaction. Anaphylaxis occurs after injection, ingestion and inhalation of an allergen. In the United States, 1% to 17% of the population is estimated at risk for experiencing an anaphylactic reaction if exposed in various allergens, especially insect stings and penicillin. Of those who suffer from Anaphylaxis, 1% die as a result, accounting to 1,000 deaths per year in the United States. [read more]
Anaplastic thyroid cancer is a type of thyroid cancer that has an extremely poor prognosis with only 14% survival rate. This disease is known for its aggressive behavior and fatal resistance to available cancer treatments. Anaplastic thyroid cancer quickly invades surrounding tissues. [read more]
Androgen insensitivity syndrome (AIS) is also called Androgen resistance syndrome. Androgen insensitivity syndrome is a condition wherein patients suffer from a set of disorders related to sexual differentiation, which results in mutation of the genes encoding the androgen receptor. The nature of problems caused by Androgen insensitivity syndrome varies largely according to the sensitivity and structure of abnormal receptor. Almost all types of Androgen insensitivity syndrome involve infertility and undervirilization in persons of both genders. Women with complete Androgen insensitivity syndrome have female appearance even if they have an undescended testes and 46XY karyotype. [read more]
Anemia comes from the Greek words ?an-hama?, which means ?without blood?. Anemia is the most widespread blood disorder. This condition is a deficiency of RBCs (red blood cells) or hemoglobin, the molecules inside RBCs. When hemoglobin carries oxygen from the lungs into tissues, anemia causes lack of oxygen in organs. When this happens, different clinical consequences may occur due to oxygen deficiency. There are three classes of anemia ? excessive blood loss, excessive blood cell destruction and deficient production of red blood cells. Anemia has several types, which are produced by various underlying causes. This disease can be classified using different ways, normally based on discernible clinical spectra, the morphology of red blood cells and etiologic mechanisms. [read more]
Pernicious anemia, also called ?Addisson's anemia? or ?Biermer's anaemia?, is a type of megalobastic anemia caused by vitamin B12 deficiency. This condition is the most common cause of vitamin B12 deficiency in adults. [read more]
Anencephaly is a cephalic disorder resulting from a neural tube defect, which occurs when the head of the neural tube does not close. It usually occurs around the 23rd to 26th day of pregnancy. This condition results in the absence of a large portion of the scalp, skull and brain. Infants with Anencephaly are born with no forebrain, the part of the brain where the cerebral hemispheres should be present. The brain tissues that exist are often uncovered by skin or bone. Infants born with Anencephaly are usually deaf, blind, unconscious and inability to feel pain. This is because the cerebral hemispheres affected by this condition are responsible for higher level of cognition, such as thinking. In the United States, 1,000 to 2,000 babies are born with Anencephaly every year. Female babies are more likely to be affected by Anencephaly. Unfortunately, the cause of Anencephaly is unknown. [read more]
Aneurysm of sinus Valsalva, also known as ?aneurysm of the aortic sinus? is a rare disorder, affecting only one person in 1,000 people. For people with Aneurysm of sinus Valsalva, it usually occurs in the right sinus, rarely in the left. Aneurysm of sinus Valsalva is a congenital disease and may possibly be associated with heart defects. This condition is sometimes associated with Loeys-Dietz syndrome and Marfan Syndrome. It could also result from syphilis, chest injuries, atherosclerosis, Ehlers-Danlos syndrome, infective endocarditis and cystic medial necrosis. When Aneurysm of sinus Valsalva is unruptured, it can be asymptomatic. As such, the condition may go undetected until symptoms become apparent or medical imaging is performed. [read more]
Angelman syndrome is a hereditary disorder that causes developmental disabilities and neurological problems, such as balancing and walking, and difficulty speaking. Regular smiles and outbursts of laughter are common for people with Angelman syndrome, and many have happy, excitable personalities. [read more]
It is important to discuss lipoma to understand the nature of angiolipoma. Lipoma is a benign tumor composed of fatty tissues. These tumors are usually movable, soft to touch and painless. They could grow extremely slow and can sometimes be cancerous. Most types of lipomas are small, but can increase its size up to six centimeters. Lipoma usually occurs in adults aged 40 to 60, but could also appear in children. An estimated 1% of the global population suffers from lipoma. Lipomas are also seen in animals. They are found usually on older dogs, but lipomas can also occur in puppies. They appear in single or multiple. While these lipomas grow, they are usually benign. Malignant forms of lipoma in animals are extremely rare. [read more]
Angioma is a benign tumor, which is made up of small blood vessels. Angioma normally appears near or at the surface of the skin in any part of the body. However, Angiomas are usually not considered dangerous (depending on location). Some Angiomas are present as symptoms for other serious diseases, such as cirrhosis. When an angioma is removed, it is usually for cosmetic reasons. [read more]
A chronic inflammatory condition of the corners of the mouth is called angular cheilitis or perleche. It is usually associated with a bacterial (Staphylococcal) or fungal (Candidal) infection, and those infected may also have thrush (an oral candidiasis). Depending upon whether or not the affected person seeks treatment, the condition can last from days to months. [read more]
Anisakiasis is a condition caused by an infection from Anisakis worms of the genus parasitic nematodes. These nematodes have a life cycle that involves marine mammals and various fishes. When fishes are infected with Anisakis, it could produce an ?Anaphylactic reaction? in people sensitized to IgE (immunoglobulin) Anisakiasis usually occurs in areas where fish is consumed raw, salted or lightly pickled. The highest number of people with Anisakiasis is Japan (consuming sushi), Scandinavia (due to cod liver), South America (after eating ceviche) and Netherlands (from infected fermented herrings). [read more]
Ankylosing spondylitis is a chronic degenerative inflammatory arthritis that affects the spine and sacroiliac joints, causing a painful and eventual fusion of the spine. When complete fusion occurs and results in complete spine rigidity, it becomes a condition known as ?bamboo spine?. [read more]
Annular pancreas is an extremely rare condition that occurs in 1 out of 15,000 newborns. Annular pancreas is a condition wherein the second part of the ?duodenum? is surrounded by pancreatic tissues that continue up to the head of the pancreas. This part of the pancreas constricts the duodenum and impairs or blocks the flow of food to the intestines. [read more]
Ano-rectal atresia is a birth defect characterized by a malformed rectum due to an unknown cause. This condition is commonly present along with other types of birth defects such as heart and spinal problems, renal and limb anomalies, tracheoesophageal fistula and esophageal atresia. Ano-rectal atresia is sometimes a complication of sacrococcygeal teratoma. There are several forms of Ano-rectal atresia. Sometimes the colon remains close to the skin (low lesion), which can be caused by narrowing of the anus or missing anus with the rectum ending in a pouch. Other types are characterized with a high lesion, wherein the colon is located high in the pelvis, while the fistula connects the rectum with the vagina, urethra or bladder. Some patients suffer from a joined vagina and colon into a single channel, a disorder called persistent cloaca. To confirm the type of Ano-rectal atresia, sonography is recommended. Ano-rectal atresia occurs in 1 in 5,000 newborns. It affects both boys and girls. However, Ano-rectal atresia will be present as the low version 90% in females and 50% in males. [read more]
Anorchia is a medical condition wherein both testes are not present at birth. Anorchia is also known as congenital anorchia, vanishing testes syndrome, vanishing testes, empty scrotum and testicular regression syndrome (TRS). During the first few weeks of fertilization, the embryo needs to develop rudimentary sex organs that are very important to the development of the reproductive system. In human males, if their sex organs do not develop within the first 8 weeks, they will develop female genitalia. When the testes are lost between 8 to 10 weeks, they will develop ?ambiguous genitalia? at birth. However, when the testes are lost after fourteen weeks, the baby can develop a normal, male reproductive system, but without testes. People with Anorchia have a 46-XY chromosome constellation. Signs of Anorchia include lack of secondary sex characteristics and an empty scrotum. [read more]
Anorexia nervosa is a psychiatric disorder that describes an eating disorder, which is characterized by body image distortion and low body weight due to an obsessive fear of becoming fat or gaining weight. People with anorexia nervosa usually control their body weight by voluntary vomiting, purging, starving, extreme exercise and other weight control measures, such as taking diuretic drugs and diet pills. It usually affects adolescent females and only 10% of anorexia nervosa patients are male. Anorexia nervosa is an extremely complex disorder, involving neurobiological, sociological and psychological components. [read more]
Anorgasmia is a medical term to refer to the regular difficulty of reaching reaching orgasm especially even after ample sexual stimulation and causing personal distress. Anorgasmia is actually a very common occurrence with about 15 percent of women report such cases of experiencing difficulty in reaching orgasm. [read more]
Antibiotic resistance is the capability of a microorganism to resist the effects of antibiotics. It is a particular type of drug resistance. It develops naturally via natural selection that acts upon arbitrary mutation but it can also be developed by applying an evolutionary stress on a population. [read more]
Antiphospholipid syndrome, simply called ?APLS? or ?APS?, is a disorder of coagulation, which causes pregnancy-related complications such as preeclampsia, miscarriage and preterm deliver. It also causes blood clots in both veins and arteries. The syndrome occurs because of the production of antibodies against phosphilipids. This disorder is characterized by antibodies against B2 glycoprotein I and cardiolipin. Antiphospholipid syndrome is usually seen in conjunction with other autoimmune-related diseases. In some cases, Antiphospholipid syndrome can lead to high risk of death and dramatic organ failure caused by generalized thrombosis. [read more]
Antisocial personality disorder (APD) is a mental disorder characterized by a persistent pattern and violation of and disregard for the rights of others, which begin in early childhood or adolescence and continue into adulthood. Features of Antisocial personality disorder include manipulation and deceit. [read more]
Alpha 1-antitrypsin deficiency is a genetic defect caused by an abnormal production of alpha-1 antitrypsin, a protein that thrives in the liver cells. The lack of this protein may cause severe disorders in the different organs and weakness of the immune system. [read more]
Aortic dissection is a condition wherein the wall of the aorta tears, causing blood to flow between the layers of the aorta wall and forcing the layers apart. Aortic dissection is a life threatening condition and is considered as a medical emergency because it could lead to a quick death even with appropriate treatments. If the dissection tears the aorta through all its three layers, rapid and massive blood loss would occur. Aortic dissection that result in rupture have 80% mortality rate. Almost 50% of patients with aortic dissention die before they reach the hospital. [read more]
Aphthous stomatitis is a form of mouth ulcer that presents a painful open sore within the mouth, which is caused by a break in the patient's mucous membrane. Also known as aphthous ulcer or ?Sutton's disease?, the term ?aphtha? means ulcer. Aphthous stomatitis is characterized by repeated painful discrete areas of ulceration. Recurrent Aphthous stomatitis (RAD) is distinguished from other diseases by their multiplicity, chronicity and tendency to recur. RAD is one of the most common oral diseases, accounting to 10% of the population. Females are more affected by Aphthous stomatitis than men are. However, over 35% of patients with RAD have a family history of this disease. [read more]
Aphthous ulcers are more commonly known as canker sores. These are characterized by the development of small and shallow lesions on the soft tissues in your mouth, under the tongue, or insides of the cheeks or lips, as well as at the base of the gums. Often , it will usually go away naturally after a few weeks or so. [read more]
Aplastic anemia is a condition wherein the bone marrow does not produce enough new cells to replenish the blood cells. The word ?aplastic? refers to the marrow that suffers from aplasia, making it unable to function normally. Anemia is the disorder that results in having lesser red blood cells than normal, which are needed to function properly. Although anemia refers to low levels of red blood cells, Aplastic anemia differs due to the lower counts of all blood cell types ? platelets, white blood cells and red blood cells. [read more]
Apnea is a condition that is characterized by the sudden or spontaneous loss of breathing for 20 seconds or more. Infantile apnea, as its name suggest, occurs in children under 1 year old. [read more]
Apocrine duct Occlusion, commonly known as the Fox-Fordyce disease, is an uncommon skin disorder, affecting male and children, but is more common in women between 13 and 35 years old. This condition is characterized by the sudden development of itchy bumps usually around hair follicles of nipples, underarm areas and pubic region. [read more]
Apparent mineralocorticoid excess (AME) is a potentially fatal genetic disorder and autosomal recessive cause of hypokalaemia, prenatal and postnatal growth failure, undetectable levels of aldosterone and renin and hypertension, which responds to treatments using glucocorticoid. Apparent mineralocorticoid excess is an extremely rare disorder, accounting to only 60 patients recorded for the past 20 years. Apparent mineralocorticoid excess is a result of mutations of the HSD11B2 gene, which is responsible for encoding the kidney isozyme ?11B-hydroxysteroid dehydrogenase?. This isozyme inactivates the circulating cortisol to the less-active metabolite cortisone, which leads to an elevated amount of cortisol in the kidney. Note that high concentrations of cortisol could activate the ?mineralocorticoid receptor?, which leads to an aldosterone-like effect in the patient's kidneys. This occurrence causes hypernatremia, hypokalemia and hypertension. Apparent mineralocorticoid excess can also be caused by licorice ingestion, which blocks 11-hydroxysteroid dehydrogenase and increase cortisol activity. Early and aggressive treatment of Apparent mineralocorticoid excess can prevent and improve the mortality and morbidity of end-organ damage rates. Diagnosis is made by DNA and hormonal analysis. [read more]
Appendicitis, also known as epityphlitis, is a condition wherein an inflammation of the appendix occurs. Although mild cases of appendicitis can be resolved without any treatment, most require removal of the appendix. [read more]
Apple peel syndrome, also known as Jejunal Atresia, is an extremely rare genetic disorder wherein patients are born without a small part of the fold from the stomach membrane connecting the small intestines to the abdomen. This condition occurs in 1 of 270 babies born alive. It is the most common intestinal obstruction found in one third of all babies. [read more]
Apraxia is a neurological disorder that is characterized by the loss of ability to carry out or execute learned movements, such as speech, despite having the physical ability and desire to perform such movements. [read more]
An apudoma is any endocrine tumor that arises from an APUD cell (APUD, meaning amine precursor uptake and decarboxylation) properties. These cells, which are derived from neural crest cells, are from structures such as the prostate, pancreas and ampulla of Vater. First identified in 1975, Apudoma is a very general term. As such, most doctors and scientists prefer to use a more specific term when possible, such as apudoma of gall bladder. [read more]
This disease is also known as "spider fingers" or archromachia. It is referred to as "spider fingers" due to the fact that the fingers are slim and long comparing it to the palm like a spider's legs. This disease can occur after birth or later in life. This disease can happen without any medical conditions but sometimes it is related with some medical condition for instance Marfan Syndrome. Other term for this disease is Dolichostenomelia. [read more]
An error of metabolism that is inherent is known as Arakawa's syndrome II. A hereditary disorder caused by the absence of the enzyme tetrahydrofolate-methyltransferase. People who has this disease cannot properly digest methylcobalamin a kind of Vitamin B12. Other terms for this disease are Methionine synthase deficiency, N5-methylhomocysteine transferase deficiency and Tetrahydrofolate-methyltransferase deficiency syndrome. [read more]
A hereditary disorder, that causes high level of arginine in the blood. Death is the result for total deficiency while partial deficiency causes hyperammonemia, metabolic alkalosis, convulsions, hepatomegaly, mental retardation and failure to grow. [read more]
Argininosuccinic aciduria, also referred to as argininosuccinic academia, an inborn condition that results to ammonia being accumulated in the urine and the blood. In the earlier days of life it becomes evident, take note that ammonia is toxic particularly in the nervous system. A lack of argininosuccinate lyase enzyme, which is required to get rid of nitrogen from the body, causes ammonia to build up in the blood and urine. A baby infected with argininosuccinic aciduria can appear exhausted and be reluctant to eat, with poorly-controlled breathing rate or body temperature, occurrence of seizures or abnormal body movements, or worse might result to coma. [read more]
An intake of elemental silver, silver dust or silver compounds, over exposure to silver salts - typically industrial exposure or medication causes Argyria. The most evident symptom if Argyria is that the skin turns to blue or bluish-grey colored. Argyria may start as generalized or local Argyria. A condition that is related to the eye is called Argyrosis. It is believed that the disorder can be permanent but laser therapy is helpful. [read more]
Ocassionally it is called as Chiari II malformation or ACM, it is is a hereditary deformity of the brain. It is an unusual deformity where the support of the brain goes through the upper spinal canal. This disorder happens to approximately every child born with both spina bifida and hydrocephalus. Chiari malformations I, II and III is associated with the apparent irregularity of the hindbrain which was described by German pathologist Hans Chiari in the late 1800's. Afterwards, further investigators supplemented a fourth (Chiari IV) malformation. The severity scale is rated I ? IV, with IV as the most severe. Arnold Chiari Malformation particularly refers to the Chiari II malformation. [read more]
This disorder is an unusual heart ailment that involves primarily right ventricle. It causes the muscle tissue of right ventricle to be changed by fibrous or fatty tissue which affects the capability of the heart to pump blood. It is distinguished by hypokinetic parts relating the free wall of the right ventricle, with fibro-fatty substitute of the right ventricular myocardium, together with related arrhythmias starting in the right ventricle. It is also referred to as arrhythmogenic right ventricular cardiomyopathy or ARVC. [read more]
Arterial tortuosity is an unusual hereditary connective tissue disorder distinguished by elongated and widespread tortuosity of the main arteries involving the aorta. The autosomal recessive acquired and location of the gene responsible is in the chromosome 20q13. [read more]
Arteriovenous malformation or commonly known as AVM is an inborn disorder distinguished with a multifaceted, twisted web of arteries and veins. The hereditary spreading guide of AVM (if any) are unidentified, and AVM is not usually considered to be an inborn disorder--unless in the framework of a particular genetic disease. AVM may be evident at birth it may appear as a blemish that resembles a hemangioma. Comparing to other areas of the skin the skin of the AVM is warmer to the touch. The blemish is dark red. Throbbing in the mass can be noticed from the fast moving among arteries and veins. [read more]
Juvenile idiopathic arthritis (JIA) previously identified as juvenile rheumatoid arthritis (JRA) is the most ordinary type of unrelenting arthritis in children. Occasionally it is called as juvenile chronic arthritis (JCA) a term that is not exact as JIA does not include all types of persistent childhood arthritis. Arthritis causes the lining of the joint (synovium) to swell. JIA is a division of arthritis noticeable during childhood, which might be temporary and self-limited or persistent. It varies considerably from arthritis usually noticed in adults (osteoarthritis, rheumatoid arthritis), and other kinds of arthritis that can present in infancy which are persistent conditions. [read more]
Arthrogryposis also referred to as Arthrogryposis Multiplex Congenita, an unusual hereditary disorder that results to multiple joint contractures and is distinguished by weakness of the muscle and fibrosis. It is a not a progressive disease. The ailment obtains its name from Greek, exactly meaning ?bent or curved joints'. There are several identified subgroups of AMC, with varying signs, symptoms, causes and the like. In several cases, a small number of joints might be affected and the variety of movement might be just about normal. In the majority type of arthrogryposis, hands, wrists, elbows, shoulders, hips, feet and knees are affected. In the majority rigorous types, almost each joint is involved, as well as the jaw and back. Normally, the contractures are accompanied by muscle weakness that adds limitation to movement. AMC is normally balanced and entails each four extremities with a number of dissimilarity seen. [read more]
Arylsulfatase A deficiency also referred to as Metachromatic leukodystrophy (MLD) is the very ordinary type of a family of hereditary ailments identified as the leukodystrophies, ailments that involves the enlargement and/or growth of myelin, the fatty layer which works as an insulator around nerve fibers all through the inner and marginal nervous systems. Arylsulfatase A results to a damaging swelling of fatty material in the body. [read more]
Asbestosis is a persistent seditious medical condition upsetting the parenchymal tissue of the lungs. It happens following a long-term, serious contact to asbestos like in mining, and is consequently viewed as a work-related lung ailment. Sufferers have rigorous dyspnea or shortness of breath and are at an augmented danger concerning numerous diverse kinds of lung cancer. As apparent details are not at all times stressed in non-technical writing, care must be taken to differentiate among several types of related ailments. According to the World Health Organisation (WHO), these can be defined as asbestosis, lung cancer, and mesothelioma or usually a very unusual type of cancer, but growing in occurrence as people exposed to asbestos age. [read more]
Ascariasis is a human infection caused by the parasitic roundworm Ascaris lumbricoides. Maybe one quarter of the world's inhabitants is infected and ascariasis is mainly common in humid regions and in regions of poor hygiene. Additional types of the species Ascaris are parasitic and can cause infections in domestic animals. Disease happens during eating of food contaminated with feces having Ascaris eggs. The larvae hatch hideaway all the way through the intestine, arrive at the lungs, and lastly travel up the respiratory tract. Starting there they are then re-swallowed and grow up in the intestine, growing up to 30 cm (12 in.) in length and securing itself to the intestinal wall. Diseases are typically asymptomatic especially if the quantity of worms is little. They may nevertheless be associated with swelling, fever, and diarrhea, and serious harms may extend if the worms travel to other portions of the body. [read more]
An unusual genetic disorder resulted from a deficit of an enzyme glycoprotein (aspartylglucosaminidase). It is associated to a Finnish ailment heritage wherein a set of ailments results from a transformation in a single gene distinguished with elevated occurrence in Finland comparing to the rest of the world. [read more]
A disorder that uses a newly born baby stops to breathe on its own the minute after birth. It is also referred to as deprivation of oxygen or hypoxia. This is usually caused by the mother's blood pressure dropping or complications during the delivery with blood flow to the infant's brain. The hypoxic injury can happen to most of an infant's organs like the heart, liver, lungs, gut and kidneys although damage in the brain is the usual concern and possibly the last to be healed. In worst cases, the baby survives but is left with brain damage this shows in developmental delay. [read more]
Aspiration pneumonia starts because of a foreign material entered the bronchial tree, commonly gastric or oral contents and is considered as bronchopneumonia. The swelling is augmented depending on the acidity of the aspirate, a chemical pneumonitis may develop and bacterial pathogens. [read more]
Asplenia is the lack (?a-') of spleen with its normal function and related with several severe infection dangers. Hyposplenism is used to refer to the decreases (?hypo-') splenic performance, but comparing it to asplenism it is not that severe. In general, splenic hypoplasia and asplenia refers to the entire or partial absence of the splenic function. Hereditary/congenital splenic abnormalities are commonly related with abnormalities in several organ systems, particularly cardiac irregularities but it can happen separately. Polyspenia is also regularly related with hereditary/congenital splenic abnormalities Loss of splenic function usually occurs as a result of surgical removal or autosplenectomy or, infarction in patients with hemoglobinopathies. Polysplenia, or bilateral left-sidedness, is also frequently associated with congenital cardiac anomalies. [read more]
Astasia-abasia refers to the lack of ability to walk or stand normally. Individuals affected by this disease usually presents trouble in walking, tilting wildly in several directions and only falls when they a physician or family member is nearby. Patients cannot stand up straight except when assisted by someone. Although movements of the legs can be done normally while lying or sitting down. [read more]
Asthma, exercise-induced (exercise-induced asthma) pertains to coughing, wheezing, or shortness of breath during exercise or any vigorous physical activity. As with most other types of asthma, exercise-induced asthma results from the inflammation of the bronchial tubes of the lungs. [read more]
Ataxia telangiectasia is a main immunodeficiency disorder that happens in an anticipated occurrence of 1 in 40,000 to 1 in 300,000 births. Other term for this disorder is Louis-Bar syndrome or Boder-Sedgwick syndrome. It is a congenital progressive multi-system ailment. Initially it starts as progressive cerebellar ataxia the followed by conjunctive and cutaneous telangiectasias, immune deficiencies, and recurrent sinopulmonary infections in later stages. There is also a related 100-fold augmented mortality danger. Cerebellar atrophy is most outstanding in the part of vermis as well as augmented neighboring cerebrospinal spaces and prominent folia using MRI. [read more]
Atherosclerosis involves the arterial blood vessels. Because of the disposition of the lipoproteins, in the huge portion of the walls of the arteries severe inflammatory response happens. ?Furring? or ?hardening? of the arteries usually refers to atherosclerosis. Result from the development of several plaques in the arteries. Arteries' functions are carrying oxygen and blood to the heart, brain and other portions of the body. The major outcome of atherosclerosis is referred to as the cardiovascular ailments. [read more]
Athetosis is a nonstop flow of sinuous, slow, writhing movements, usually of the hands and feet. Movements that are cause by athetosis are mainly referred to as athetoid movements. It was said that due to the damage to the corpus striatum of the brain and a cut to the motor thalamus that is why Athetosis happens. [read more]
Atonic seizures, also known as drop attacks or akinetic seizures, are a minor kind of seizure. These seizures are characterized by brief lapses in muscle tone that last for up to 15 seconds and can cause no damage. However, the sudden loss of muscle control may lead to falling or loss of balance. It can be diagnosed by electroencephalography, and doesn't need treatment until injuries occur. [read more]
Atrial myxoma a tumor that is not cancerous located in the upper left or right portion of the heart. It develops on the wall that divides the two sides of the heart. The familial type of the condition also includes tumors in several parts of the body like in the skin. [read more]
Atrioventricular septal defect formerly known as "common atrioventricular canal" (CAVC) or "endocardial cushion defect" distinguished by a deficit of the heart's atrioventricular septum. It results from an abnormal or insufficient union of the lower and higher endocardial cushions with the middle part of the atrial septum and the muscular part of the ventricular septum. The Atrioventricular septal defect is divided into two forms which are ?partial? and ?complete? forms. In partial AVSD there is a partial defect in the primum or lower portion of the atrial septum but does not have straight intraventricular communication while in complete AVSD, there is a huge ventricular element underneath each or both the higher or lower bridging leaflets of the AV valve. [read more]
Autoimmune hepatitis is an abnormal presentation of human leukocyte antigen (HLA) class II on the exterior of hepatocytes it might be because of the hereditary predisposition or severe liver infection that results to a cell-mediated immune response in opposition of the body's liver causing autoimmune hepatitis. [read more]
Autoimmune peripheral neuropathy is a term for the nerves of the secondary nervous system being damaged that can result from either diseases of the nerve or from the systemic illness side-effects. Secondary neuropathies differ in their presentation and origin and can affect the neuromuscular or nerve junction. [read more]
Autoimmune polyendocrinopathy syndrome, type I is a very unusual autoimmune disorder distinguished by autoimmune polyendocrinopathy (APE), candidiasis (C) and ectodermal dysplasia (ED). Theh disorder is also called as candidiasis-hypoparathyroidism-Addison's disease-syndrome following its major features: * Mild immune deficiency that leads to mucosal and cutaneous infections alog with candida yeasts. The function of the spleen is also reduced or referred to as asplenism. * Parathyroid gland's autoimmune dysfunction that leads to hypocalcemia and the adrenal gland. Other ailments that are related: hypothyroidism hypogonadism and infertility vitiligo (depigmentation of the skin) alopecia (baldness) malabsorption pernicious anemia chronic active (autoimmune) hepatitis In contrast to type 2, this type takes over an autosomal recesive style and it is because of a defect in AIRE or autoimmune regulator a gene that is seen on the 21st chromosomes. A transcription factor, normal function AIRE exhibits to display immune lenience for antigens from endocrine organs. [read more]
Avian influenza pertains to a condition that humans can contract from infected birds. It is more commonly known as bird flu. [read more]
B-cell lymphoma, also known as Non-Hodgkin lymphoma (NHL), is a heterogenous group of lymphoproliferative malignancies with varying patterns of behavior and responses to treatment. Non-Hodgkin lymphoma is a heterogenous group of lymphoproliferative malignancies with varying patterns of behavior and responses to treatment. NHL usually originates in the lymphoid tissues and can spread to other internal organs. However, unlike Hodgkin's disease, NHL is less predictable and has a greater predilection to extranodal sites. [read more]
Bacterial food poisoning also generally known as foodborne illness it is an illness that it is caused by ingesting a contaminated food. [read more]
Bacterial pneumonia is an infection of the lungs caused by bacteria. The most common cause is the bacteria Streptococcus pneumoniae (J13.) which is also common in all ages except for newly born babies. Another type of bacteria that causes pneumonia is the Staphylococcus aureus (J15.2) these bacteria are classified as Gram-positive bacteria. For Gram-negative bacteria it is seen less regularly like Klebsiella pneumoniae (J15.0), Haemophilus influenzae (J14.), Escherichia coli (J15.5), Moraxella catarrhalis and Pseudomonas aeruginosa (J15.1) are the most usual bacteria. The gut is where these bacteria reside and enters the lungs when the lung's content is inhaled like vomit. Not unlike typical bacteria, ?atypical? bacteria are commonly seen in young adults and teenagers and are less sever and needs various antibiotics. Examples of ?atypical? bacteria are Chlamydophila pneumoniae (J16.0), Coxiella burnetti, Legionella pneumophila and Mycoplasma pneumoniae (J15.7). [read more]
BAER is an acronym for Brainstem Auditory Evoked Response and it is test measures of ear and brain wave activity that happens in reaction to clicks or certain pitch. There are 3 waves (1, 3 and 5) set for the ear, BAER uses a computer that averages over time to determine background noise to produce an averaged reaction of the auditory gateway to an auditory stimuli. [read more]
Ballard syndrome is an uncommon condition of the liver and spleen that is enlarged it happens in parts of a weakened bone. The disorder is a congenital and commonly prevailing trait. It usually happens as an isolated dysmelia though it can also happen with other abnormalities as part of several hereditary syndromes. [read more]
Bardet-Biedl syndrome is a hereditary disease mainly characterized by obesity, extra number of fingers and/or toes, hypogonadism, renal failure, and pigmentary retinopathy. The cardiovascular system is also plagued with hypertrophy of the interventricular septum, and fibrosis in the gastrointestinal tract. This disease is an autosomal recessive defect due to the malformations of the chromosome 3 and 16. [read more]
Bardet-Biedl syndrome, type 1 is an unusual hereditary or genetic disorder distinguished by mental retardation, polydactyly, obesity and pigmentation of the retina and other anomalies. Bardet-Biedl syndrome, type 1 results from the deficiency in chromosome 11q13. [read more]
Baritosis a condition of the lung, that results from inhaling barium dust or barium that has compounds. It is a condition that is benign generally that does not result to symptoms except for irritation. On chest X-rays the particles of barium can be evident as an opaque shadow on individuals that has Baritosis. When contact to barium dust stops the abnormalities seen on chest X-rays slowly disappears. [read more]
Barrett's syndrome, also known as ?Barrett's esophagus?, ?CELLO? or simply ?Barrett's? is a condition wherein patients experience an abnormal change in the cells of the lower part of the esophagus. Named after Dr. Norman Barrett, a British surgeon from St. Thomas Hospital that described the condition in 1957, Barrett's syndrome is believed to be caused by reflux esophagitis or damage from exposure to chronic acid. Barrett's syndrome occurs in 10% of patients seeking medical attention for heartburn. In addition, Barrett's is considered a premalignant condition, which is associated with a great risk of esophageal cancer. [read more]
Barth syndrome also recognized as 3-Methylglutaconic aciduria type II and Cardiomyopathy-neutropenia syndrome it is an unusual hereditary disorder categorized by a lot of signs and symptoms and also includes motor skills being delayed, metabolism distortion, stamina deficiency, chronic fatigue, cardiomyopathy, delayed growth, and compromised immune system. The research or study of Dr. Peter Barth in the Netherlands and discovery in 1983 was the reason why the syndrome was named after him. He designed a pedigree chart where in it shows that the disease is an inborn behavior. [read more]
Bartonella infections previously known as Rochalimaea it is a genus of Gram-negative bacteria. Bartonella species may contaminate healthy people though are considered particularly essential as opportunistic pathogens. Bartonella is spread by insect vectors like fleas, ticks, sand flies and mosquitoes. It is known that eight Bartonella species or subspecies are recognized to infect humans. Bartonella rochalimae was the sixth species discovered in June 2007 that is recognized to infect humans and also the ninth species and subspecies generally recognized to infect humans. [read more]
Basal cell cancer is a frequently occurring type of skin cancer. However, it is also the most easy to treat and has the least likelihood of spreading. In general, basal cell cancer is seldom fatal; however, if untreated, it can cause widespread damage to surrounding bones and tissues. [read more]
Batten disease is an unusual, deadly, autosomal recessive neurodegenerative disorder which starts in early days of a person. The disease is also referred to as Spielmeyer-Vogt-Sjogren-Batten disease it is the most usual type of a group of disorders referred to as neuronal ceroid lipofuscinosis (or NCLs). History The disease is named after the British pediatrician Frederick Batten who initially explained about the Batten disease in 1903. It is the most usual form of a collection of disorders referred to as neuronal ceroid lipofuscinosis. Though Batten disease is commonly observed as the juvenile type of NCL several physicians refer to Batten disease to all types of NCL or ceroid lipofuscinosis. [read more]
Becker's muscular dystrophy (BMD), also known as benign pseudohypertrophic muscular dystrophy, is an X-linked inherited disorder that involves the slowly and progressive weakness of the muscle in the legs and pelvis. It is a type of dystrophinopathy, which includes a range of muscle diseaseswhere there is insufficient dystrophin produced in the muscle cells, resulting in instability in the muscle cell membrane's structure. [read more]
Becker's nevus is a skin disorder that predominantly affects males. The nevus mostly first appears as an irregular pigmentation (hyperpigmentation) on the torso or upper arm (though other areas of the body can be affected), and gradually enlarges in an irregular shape, becoming thickened and often developing abnormal hair growth (hypertrichosis). It is also known as Becker's pigmented hairy nevus, Becker nevus, Becker pigmented hairy nevus, Becker melanosis and pigmented hairy epidermal nevus. [read more]
Bee And Wasp Stings are insect stings brought about by bites of bees and wasps. Bees are fuzzy insects that feed on flowers while wasps are non-fuzzy insects closely related to bees but can also feed on animal food and other insects. The two insects may l [read more]
Beh?et's (pronounced ?BAY-sets') disease is a disease that causes symptoms in various parts of the body. It produces a group of symptoms that affect different body systems, including gastrointestinal, musculoskeletal, and the central nervous system. These symptoms include mouth or genital ulcers, skin lesions, and inflammation of the uvea which is an area around the pupil of the eye. Common symptoms include sores found in the mouth and on the genitals. More serious symptoms can include inflammation (combined with swelling, heat, redness, and pain) in the eyes and other parts of the body. [read more]
Behr's Syndrome is a rare inherited neurological condition named after Carl Behr, who first described it in 1909 as a syndrome of variable pyramidal tract signs. It is characterized by spastic paraplegia and sometimes optic atrophy. It is a hereditary familial syndrome that falls under ocular and neurologic disorders affecting both men and women. Behr's Syndrome starts in infancy with disturbed vision, disturbed coordination with ataxia, mental deficiency, and urinary sphincter weakness. Other characteristics include optic atrophy prevalent in males, scotoma, bilateral retrobulbar neuritis, nystagmus, progressive temporal nerve atrophy, increased tendon reflexes, Babinski sign, and incoordination. Its inheritance is autosomal recessive, meaning it is not linked to sex chromosomes, although heterozygotes may still manifest much attenuated symptoms. [read more]
Bejel, which was previously called endemic syphilis, is a nonsexually transmitted infection caused by treponemal spirochetes closely related to Treponema pallidum, the bacterium that causes the sexually transmitted disease syphilis. Bejel, yaws, and pinta are diseases closely related to syphilis. They mainly occur in the tropics and subtropics. Unlike syphilis, they are transmitted through skin contact, mostly between children living in poor hygienic conditions. Like syphilis, these diseases start with skin sores and have a latent period that is followed by more a destructive disease. Bejel occurs mainly in the warm arid countries like the eastern Mediterranean region and West Africa. Yaws occurs in equatorial countries. Pinta is most common among the Indians of Mexico, Central America, and South America. Although the bacteria that causes bejel, Treponema pallidum endemicum, is morphologically and serologically indistinguishable from Treponema pallidum pallidum, transmission of bejel is not venereal in nature, generally resulting from mouth-to-mouth contact, skin-to-skin contact, or sharing of domestic utensils, and the courses of the two diseases are vary somewhat. [read more]
Bell's Palsy is a paralysis of the facial nerve which results to an inability to control facial muscles in the affected side. There are several conditions that can cause facial paralysis: brain tumor, stroke, and Lyme disease. However, if no specific cause can be traced to the paralysis, the condition is called Bell's Palsy. It is named after the Scottish anatomist Charles Bell, who first described it. Bell's palsy is the most common acute mononeuropathy, or diseases involving only one nerve, and is the most common cause of acute facial nerve paralysis. Bell's Palsy is defined as an idiopathic unilateral facial nerve paralysis, and is usually self-limiting. Its trademark is the rapid onset of partial or complete palsy, usually in a single day. [read more]
Benign essential tremor (ET) is a movement disorder affecting the neurological system. It is characterized by involuntary fine rhythmic tremor of a body part or different parts, mostly the hands and arms (upper limbs). In many individuals affected by this, upper limb tremor may occur as an isolated finding. In others, however, tremors may gradually involve other regions of the anatomy, such as the head, voice, tongue, or palate (roof of the mouth), leading to dysarthria, or difficulty articulating speech. Less common are tremors that affect muscles of the torso or legs. It is also known as Presenile Tremor Syndrome, familial essential tremor, or hereditary benign tremor. [read more]
Berdon's Syndrome, also known as Megacystis microcolon intestinal hypoperistalsis syndrome (MMIH), is a disorder of newborn babies, most prevalent in females, characterized by constipation and urinary retention, microcolon, giant bladder (or megacystis), hydronephrosis, intestinal hypoperistalis, and dilated small bowel. It results from a dysfunction of the smooth muscle in the abdomen and digestive system. This disorder prevents the intestines, stomach, kidneys, and bladder from functioning correctly. The pathological findings consist of a large quantity of ganglion cells in both dilated and narrow areas of the intestine. It is a familial disturbance of unknown origin. Experts disagree whether inheritance is autosomal dominant or recessive. In 1976, Berdon and company first described the condition in five female infants, two of whom were sisters. All had marked bladder dilatation and some had hydronephrosis and the external appearance of a prune belly. The infants also had microcolon and sverely dilated small intestines. [read more]
Berger's Disease (also known as primary IgA nephropathy, glomerulonephritis with IgA and IgG deposits and IgA mesangial nephropathy), has a wide pattern of distribution and is thought to be the most common form of primary glomerular disease throughout the world. Although highly prevalent, geographic variations occur, which could be due to genetic as well as enviromental influences on the patient. This is a kind of glomerulonephritis resulting from the deposition of circulating IgA antibody in the kidney tissues. Inflammation of the glomerulus (glomerulonephritis) is the result of this and may present as acute glomerulonephritis, chronic glomerulonephritis or rapidly progressive glomerulonephritis. This renal disorder more commonly affects males in the 16-40 age range. [read more]
Beriberi is an ailment affecting the nervous system. It is caused by a deficiency in thiamine (vitamin B1). The etymology of the word is from a Sinhalese phrase meaning literally, "I cannot, I cannot", the word being repeated for emphasis. [read more]
Berlin breakage syndrome, also known as Nijmegen breakage syndrome (NBS) and Seemanova syndrome, is a rare syndrome that is characterized by chromosomal instability, maybe as a result of a defect in the Double Holliday junction DNA repair mechanism. It is a very rare syndrome characterized mainly by a small head, lowered immunity and heightened risk of cancer. The features of this condition are basically indistinguishable from the Nigmegen Breakage syndrome. The name comes from the Dutch city Nijmegen where the condition was first discovered. Most people with NBS originate from West Slavic regions. The largest number of them is Polish. [read more]
Bernard-Soulier disease is condition usually present in newborn infants, wherein the blood platelets are not able to stick to the ruptured walls of the blood vessel. This may cause problems in blood clotting and becomes a result of profuse abnormal bleeding. [read more]
Berylliosis, also known as chronic beryllium disorder (CBD), is an occupational lung disease. It is a chronic allergic-type lung response and chronic lung disease that results from exposure to beryllium and its compounds. Berylliosis is incurable but its symptoms can be treated. [read more]
A bicuspid aortic valve is a heart valve possessing two cusps that are situated between the left ventrical and the aorta. A congenitally bicuspid aortic valve has 2 working leaflets. Most people have 2 complete commissures. An approximated half of cases have a low raphe. Excluded are stenotic or partially fused valves caused by inflammatory processes, such as rheumatic fever. [read more]
Bilateral renal agenesis is uncommon and is a serious condition, related to Potter's Syndrome. Bilateral renal agenesis is the lack of both kidneys at birth. It is a genetic disorder characterized by a failure of the kidneys to develop as a fetus inside the womb. This absence of kidneys results to a deficiency of amniotic fluid (or oligohydramnios) in a pregnant woman. Normally, the amniotic fluid serves as a cushion for the developing fetus. When there is not enough amount of this fluid, compression of the fetus may occur resulting in further malformations of the baby. It is the consequence of failure of differentiation of the metanephric blastema during the 25?28th day of development and both ureters and kidneys and renal arteries are missing. This disorder is more commonly found in infants born of a parent who has a kidney malformation, particularly the absence of one kidney (or unilateral renal agenesis). Studies have proven that unilateral renal agenesis and bilateral renal agenesis are genetically related to eachother. 1 out of 3 infants with this congenital defect are not born alive. Most infants that are born alive do not live beyond the coarse of four hours. [read more]
Biliary atresia is a rare condition found in newborn infants in which the common bile duct between the liver and the small intestine is blocked or missing. If it goes unrecognized, the condition leads to liver failure but not to kernicterus. This is due to the liver still able to conjugate bilirubin, and conjugated bilirubin is not able to cross the blood-brain barrier. The only effective treatments for biliary atresia are certain surgeries, or liver transplantation. [read more]
Biotinidase Deficiency (BIOT) is the result of the lack of an enzyme called biotinidase. Without treatment, this disorder can cause seizures, developmental delay, eczema, and hearing loss. [read more]
Birt-Hogg-Dub syndrome is a rare disorder that affects the skin and lungs and heightens the risk of certain types of tumors. The condition is characterized by multiple noncancerous (or benign) skin tumors, particularly on the face, neck, and upper chest of the person. These growths typically first appear during a person's twenties or thirties and become larger in size and more numerous over time. Affected individuals also have a higher chance of developing cysts in their lungs and an abnormal accumulation of air in the chest cavity (pneumothorax) that may lead to the collapse of a lung. Additionally, people with Birt-Hogg-Dub? syndrome have a greater risk of developing cancerous or noncancerous kidney tumors and possibly tumors in other organs and tissues. [read more]
Black Death, also known as the bubonic plague, was a pandemic disease that nearly wiped out Britain's population during the 14th century. It was thought to be caused by the bacterium Yersinia pestis, but recent studies attribute the plague to other diseases. [read more]
Bladder neoplasm (or bladder cancer) is a disease in which abnormal cells multiply and grow in number without control in the bladder. The bladder is a hollow, muscular organ that stores urine and is located in the pelvis. The most common type of bladder cancer starts in cells lining the inside of the bladder and is called urothelial cell or transitional cell carcinoma (UCC or TCC). [read more]
Blastomycosis is a fungal infection caused by the Blastomyces dermatitidis organism. Blastomycosis causes clinical symptoms that have similarites to histoplasmosis. The organism causing blastomycosis is endemic to portions of North America. [read more]
Blepharophimosis is a condition where the individual has bilateral ptosis with reduced lid size. The the patient's nasal bridge is flat and there is hypoplastic orbital rim. Both the vertical and horizontal palpebral fissures (or eyelid opening) are reduced in length. Vignes probably first described this entity as a dysplasia of the eyelids. Aside from small palpebral fissures, features include epicanthus inversus (folds curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge, and ptosis of the eyelids. Blepharophimosis, ptosis, and epicanthus inversus syndrome, either accompanied with premature ovarian failure (BPES type I) or without (BPES type II), is caused by mutations in the FOXL2 gene. [read more]
Blood pressure, high (high blood pressure) is characterized by an abnormally elevated amount of blood being pumped by the heart. Medically, high blood pressure is known as hypertension. [read more]
Bloom syndrome is a rare autosomal recessive disorder characterized by telangiectases and photosensitivity, deficiency in growth of prenatal onset, variable degrees of immunodeficiency, and increased susceptibility to neoplasms of many sites and types. The dermatologist David Bloom first described the syndrome in 1954. [read more]
Blue diaper syndrome, also known as Drummond's Syndrome or Tryptophan Malabsorption, is a rare, autosomal recessive metabolic disorder characterized in infants by bluish urine-stained diapers. It is a defect in the body's tryptophan absorption in which the urine contains abnormal indoles, giving it a blue color. It is inherited as an autosomal or most certainly recessive trait but could also be linked to the X-chromosome. [read more]
Painful, pus-filled bumps that form under your skin when bacteria infect and inflame one or more of your follicles are called boils and carbuncles. They usually start as red, tender lumps that quickly fill with pus, growing larder and more painful until they rupture and drain, which mostly take about two weeks to heal although some boils disappear in a few days after they occur. They may appear anywhere on your skin, but appear mainly on your neck, face, armpits, thighs or buttocks where these hair-bearing areas are most likely to sweat or experience friction. [read more]
Borreliosis, also known as Lyme disease, is an emerging infectious disease caused by bacteria from the genus Borrelia. The vector of infection is usually the bite of an infected black-legged or deer tick, but other carriers (including other ticks in the genus Ixodes) have been implicated. Borrelia burgdorferi is the leading cause of Lyme disease in the U.S. and Borrelia afzelii and Borrelia garinii are found in Europe. The disease presentation varies greatly, and may include a rash and flu-like symptoms in its initial stage, then musculoskeletal, neurologic, arthritic, psychiatric and cardiac manifestations. In a most of the cases, symptoms can be eliminated with antibiotics, especially if treatment begins early in the course of illness. Late or inadequate treatment often results to "late stage" Lyme disease that is disabling and difficult to treat. Controversy over diagnosis, testing and treatment has resulted to two different standards of care. [read more]
Bothriocephalosis (also known as Diphyllobothriasis) is an infection with an intestinal parasite. The parasite is a fish tapeworm known as Diphyllobothrium latum. Human infection is caused by eating undercooked fish contaminated with the bacteria. Adult tapeworms may infect humans, felines, canids, pinnipeds, bears, and mustelids, though the accuracy of the records for some of the nonhuman species is disputed. Immature eggs are passed in the feces of the mammal host (the definitive host, where the worms reproduce). [read more]
Botulism (from the Latin word, botulus, meaning "sausage") is a rare, but serious paralytic illness caused by a toxin, botulin, that is produced by the bacteria Clostridium botulinum. Botulinic toxin is one of the most powerful known toxins: about one microgram is deadly to humans. It acts by blocking nerve function and leads to respiratory and musculoskeletal paralysis to the individual. [read more]
Bourneville's disease (also known as Tuberous sclerosis) is characterized by facial lesions with tuberous sclerosis, first reported as adenoma sebaceum, but now recognised as angiofibromas. It produces tuberous sclerosis occurring in association with adenoma sebaceum. It is syndrome of epilepsy, severe mental retardation associated with adenoma sebaceum (overgrowth of the sebaceous glands) of the face, hamartomatous tumours of the heart and kidney, and cerebral cortical tubers (hence the name "tuberous sclerosis"). It is heredofamilial and usually shows itself early in life. Females are more often affected by this disease than males. Incomplete forms of the syndrome can manifest. Bourneville's disease is transmitted as an autosomal dominant trait with variable expressivity. [read more]
Bowen's disease (BD) is a skin disease induced by sunlight, considered either as an early stage or intraepidermal form of squamous cell carcinoma. [read more]
Bradycardia is a condition wherein heart rate slows down to less than 60 beats per minute. A healthy heart normally beats between 60 and 100 beats per minute to provide sufficient oxygenated blood to the body. [read more]
In medicine (neurology), bradykinesia means "slow movement". Its etymology is brady = slow, kinesia = movement. It is a feature of several of diseases, most notably Parkinson's disease and other disorders of the basal ganglia. Rather than being a slowness in initiation (related to hypokinesia) bradykinesia describes a slowness in the execution of movement. [read more]
Brain cavernous angioma, also referred to as cerebral cavernous malformation (CCM), cavernous haemangioma, and cavernoma, is a vascular disorder of the central nervous system that may appear either sporadically or display autosomal dominant inheritance. [read more]
Brain neoplasms are tumors of the intracranial components of the central nervous system, including the cerebral hemispheres, hypothalamus, basal ganglia, thalamus, brain stem, and cerebellum. Brain neoplasms are further divided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are categorized into benign and malignant forms. Generally, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain. [read more]
Branchiootorenal (BOR) syndrome is marked by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment; branchial fistulae and cysts; and renal malformations, ranging from mild renal hypoplasia to bilateral renal agenesis. The presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality may be different from right side to left side in an affected individual and also among individuals in the same family. Some individuals develop to end-stage renal disease (ESRD) later in life. The name branciootorenal syndrome describes the body systems most frequently affected by this genetic disorder. The term "branchio" refers to the abnormalities of the neck found in people affected with this syndrome. Cysts (lump or swelling that can be filled with fluid) and fistulas (abnormal passage from the throat to the skin) in the neck appear frequently. The term "oto" refers to the ear disorders that are associated with the syndrome. For example, the outer ear can be abnormal in appearance. Hearing loss is also commonly associated to the syndrome. Finally, the term "renal" stands for the kidney problems commonly found in patients with this condition. [read more]
Breast infection is an infection affecting the breast tissue of nursing mothers characterized by swelling, redness, and pain in the breast. It is also alternatively known as mastitis. [read more]
Bright's disease (also known as nephritis) is a historical classification of kidney diseases that is described in modern medicine as acute or chronic nephritis. The term is no longer in use, as diseases are now classified according to their more fully understood etiologies. It is typically characterized by the presence of serum albumin (blood plasma) in the urine, and frequently accompanied by edema (tissue particulate). Many people believe that too much protein consumption can lead to Bright's disease, but this is a spurious statement and is nothing but a myth. [read more]
Broken blood vessel in eye is known in medical terms as subconjunctival hemorrhage, a condition characterized by the breaking of tiny blood vessels just beneath the clear surface of the eye called conjunctiva. [read more]
Broken ribs pertain to a common injury wherein the bones in the rib cage breaks, fractures, or cracks. [read more]
Bronchiectasis is a disease that results to localized, irreversible dilatation of part of the bronchial tree. Involved bronchi are dilated, inflamed, and easily collapsible, leading to airflow obstruction and impaired clearance of secretions. Bronchiectasis is associated with a wide range of disorders, but it usually arises from necrotizing bacterial infections, such as infections caused by the Staphylococcus or Klebsiella species or Bordetella pertussis. [read more]
Bronchiolitis obliterans organizing pneumonia (or BOOP) is the inflammation of the bronchioles and surrounding tissue in the lungs. BOOP is often the result of a pre-existing chronic inflammatory disease like rheumatoid arthritis. BOOP can also be a side effect of certain medicinal drugs, such as amiodarone. In cases where no cause is detected, the disease is called cryptogenic organizing pneumonia. The clinical characteristics and radiological imaging resemble infectious pneumonia. However, diagnosis is suspected after there is no response to multiple antibiotics, and blood and sputum cultures are found to be negative for organisms. [read more]
Chronic bronchitis is the inflammation, or irritation, of the airways in the lungs. Airways are the tubes in the lungs where air passes through. They are also known as bronchial tubes. When the airways are irritated, thick mucus forms inside of them. The mucus plugs up the airways and makes it hard for the person to get air into your lungs. Symptoms of chronic bronchitis include a cough that produces mucus (sometimes called sputum), breathing difficulties, and a feeling of tightness in the chest. [read more]
Bronchopulmonary dysplasia involves the abnormal development of lung tissue. It is marked by inflammation and scarring in the lungs. It occurs most often in premature babies, who are born with underdeveloped lungs. "Broncho" is the name of the airways (the bronchial tubes) through which the oxygen we breathe travels into the lungs. "Pulmonary" refers to the lungs' tiny air sacs (alveoli), where carbon dioxide and oxygen are exchanged. "Dysplasia" means abnormal changes in the organization or structure of a group of cells. The cell changes in BPD occur in the smaller airways and lung alveoli, making breathing difficult and causing problems with lung function. [read more]
Brown Syndrome is a rare eye disorder marked by defects in eye movements. This disorder may be present at birth (congenital) or may occur as the due to another underlying disorder (acquired). Muscles control eye movements and activities. Some of these muscles turn the eyeball up and down, move the eyeball from side to side, or let the eyeball to rotate slightly in its socket. The superior oblique tendon sheath of the superior oblique is the muscle that surrounds the eyeball. The symptoms of Brown Syndrome are due to abnormalities of this tendon sheath including shortening, thickening, or inflammation. This leads to the inability to move the affected eye upward. [read more]
Brown-S?quard syndrome, also known as Brown-S?quard's hemiplegia and Brown-S?quard's paralysis, is a loss of motricity (paralysis and ataxia) and sensation as a result of the lateral hemisection of the spinal cord. Other names for the syndrome are crossed hemiplegia, hemiparaplegic syndrome, hemiplegia et hemiparaplegia spinalis and spinal hemiparaplegia. It is an incomplete spinal cord lesion characterized by a clinical picture reflecting hemisection of the spinal cord, often in the cervical cord region. It was initially described in the 1840s after Dr. Charles Edouard Brown-Sequard sectioned one half of the spinal cord. It is a rare syndrome, made up of ipsilateral hemiplegia with contralateral pain and temperature sensation deficits because of the crossing of the fibers of the spinothalamic tract. [read more]
The Brugada syndrome is a genetic disease that is marked by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. It is also known as Sudden Unexpected Death Syndrome (SUDS), and is the most commonly found cause of sudden death in young men without known underlying cardiac disease in Thailand and Laos. Although the ECG findings of Brugada syndrome were first reported among survivors of cardiac arrest in 1989, it was only in 1992 that the Brugada brothers recognised it as a distinct clinical entity, causing sudden death by resulting to ventricular fibrillation (a lethal arrhythmia) in the heart. [read more]
Bruton agammaglobulinemia was the first immunodeficiency disease to be described. Colonel Ogden Bruton noted in 1952 the absence of immunoglobulins in a young male with a history of pneumonias and other bacterial sinopulmonary infections. Bruton was also the first physician to furnish specific immunotherapy for this X-linked disorder by administering intramuscular injections of immunoglobulin G (IgG). The patient improved but died of chronic pulmonary disease in his fourth decade of life. This disorder is now formally known as X-linked agammaglobulinemia (XLA), and the gene defect has been mapped to the gene that codes for Bruton tyrosine kinase (Btk) at band Xq21.3. The BTK gene is big and consists of 19 exons that encode the 659 amino acids that form the Btk cytosolic tyrosine kinase. Mutations can happen in any area of the gene. Btk is needed for the proliferation and differentiation of B lymphocytes. In the absence of working Btk, mature B cells that express surface immunoglobulin and the marker CD19 are few to absent. The lack of CD19 is readily detected with fluorocytometric assays, and this finding usually easily confirms the diagnosis of XLA in a male. As Bruton originally described, XLA shows itself as pneumonias and other bacterial sinopulmonary infections in 80% of cases. Such infections that start in male infants as maternal IgG antibodies, acquired transplacentally, are lost. Thus, XLA is most often diagnosed when unusually severe or recurrent sinopulmonary infections occur in a male infant younger than 1 year. [read more]
The bubonic plague, also known as bubonic fever, is the best-known variant of the deadly infectious disease caused by the enterobacteria Yersinia pestis (Pasteurella pestis). The epidemiological use of the term ?plague? is currently applied to bacterial infections that cause buboes, although historically the medical use this term has been applied to pandemic infections in general. [read more]
In medicine (gastroenterology and hepatology), Budd-Chiari syndrome is the clinical picture resulted from occlusion of the hepatic vein or inferior vena cava. It presents with the classical triad of abdominal pain, ascites and hepatomegaly. Some examples of occlusion include thrombosis of hepatic veins and membranous webs in the inferior vena cava. The syndrome can be acute, fulminant, chronic, or asymptomatic. It takes place in 1 out of 100,000 individuals and is more common in females. Some 10-20% also have a sort of obstruction of the portal vein. [read more]
CADASIL, which stands for cerebral autosomal dominant arteriopathy with subcortial artifacts and leukoencephalopathy, is a type of inherited stroke disorder, usually attacks persons aged 30-50 years old. The disease is fatal, as patients usually die around 12 years after symptoms show. The disease affects the brain's small blood vessels. CADASIL also causes an abnormality in the muscle cells around the small blood vessels, called the vascular smooth muscle cells, leading to the destruction of the blood vessel cells. Patients typically have one parent who has CADASIL; as one copy of the gene is enough to cause the condition. [read more]
Campylobacteriosis is an infection caused by the bacteria campylobacter or most commonly known as C. jejuni. Considered as among the most common human bacterial infections, it can be transmitted in several ways such as fecal-oral, person-to-person sexual contact and ingestion of contaminated food or water. When infected with the bacteria, an inflammatory and sometimes bloody diarrhea or dysentery syndrome may be experienced. It may include cramps, fever and pain. Campyolabacteriosis is usually self-limiting. [read more]
Campylobacteriosis is an intestinal infection caused by bacteria called Campylobacter; commonly found in the stool of infected people and animals, processed food products contaminated in the process and preparation, poorly cooked chicken and other contaminated fruits that have not been hygienically prepared. [read more]
Canavan disease is an autosomal recessive disorder that is the most common cerebral degenerative disease of infancy. The disease causes progressive damage to the brain's nerve cells. It is also a gene-linked, neurological birth disorder, wherein the white matter of the brain disintegrate into spongy tissue puzzled with microscopic fluid-filled spaces. The disease belongs to a group of genetic disorders called leukodystrophies, which are characterized by the degeneration of myelin. Myelin is an electrically insulating dielectric covering the phospholipids layer of neuron insulating the axon. Canavan disease hinders the body's normal production of myelin. Called the central nervous system's ?white matter,? this fatty membrane ensures that nerve impulses are properly transmitted. [read more]
Cancer is a group of diseases in which cells are hostile, invasive, and sometimes metastatic. These three are considered malignant properties of cancers that differentiate them from benign tumors. Although some benign tumor types are capable of being malignant, they are usually self-limited in their growth and don't invade or metastasize. People from all ages, even fetuses, may be affected with cancer but age is a factor that can raise the risks for more common varieties. About 13% of all deaths are caused by cancer and according to the American Cancer Society, 7.6 million people died from cancer in 2007 across the world. Even plants and animals may be affected by cancer. Abnormalities in the genetic material of the transformed cells practically cause all cancers. Carcinogens such as tobacco smoke, chemicals, radiation or infectious agents may have caused said abnormalities. Some however, may be randomly acquired through errors in DNA replication or inherited. DNA methylation and microRNAs are new aspect of the genetics of cancer pathogenesis that are gaining importance. The tissues from which the cancerous cells originate are used as bases in classifying cancer. There are also two general classes of genes affected by cancer anmely the oncogenes and tumor suppressor genes. [read more]
Commonly called yeast infection or thrush, candidiasis is a fungal infection (mycosis) of any of the Candida species. The most common Candida specie is Candida albicans. Candidiasis includes infections that range from superficial, such as oral thrush and vaginitis, to systemic and potentially life-threatening diseases. The latter belongs to a category called candidemia are usually confined to severely immunocompromised persons. These include persons with cancer, transplant, and AIDS patients. [read more]
It is a medical condition that is an unusual genetic metabolic disorder where in the where malfunctioning carbohydrate compounds are connected to glycoproteins and results to damaged glycoprotein function. Carbohydrate deficient glycoprotein syndrome involves a defect in the phosphomannomutase enzyme and involves most body systems in particular the nervous system and the function of the liver. [read more]
Carcinoid syndrome points to the collection of symptoms that happen next to carcinoid tumors. Carcinoid tumors happen together along with gastrointestinal tract (GI) that are distinct, colored yellow and well-circumscribed tumors. The tumors usually affect the ileum, appendix and rectum and it is usually distinctive and endocrine in nature. The tumors produce hormones into the blood stream that go through to the end organs and operates then by proper receptors. Though it fairly unusual, out of 15 cases per 1,000,000 population carcinoid tumors report for 75% of GI endocrine tumors. [read more]
Cardiac amyloidosis is a medical condition that is a type of amyloidosis the reason of which is because of the deposits of an amyloid protein in the heart tissue that results to the reduced function of the heart. [read more]
Cardiofaciocutaneous syndrome is a congenital anomaly characterized by mental retardation and marked with heart defects, ectodermal abnormalities as well as growth failure. This medical condition was first discovered in 1986, and to date, there are less than 300 recorded cases of this congenital disorder all over the world, and known to affect both sexes across all ethnic background. [read more]
Cardiomyopathy is the deterioration of the function of the myocardium (i.e., the actual heart muscle) for any reason. [read more]
Carney complex (CNC) is characterized as a lentiginosis syndrome and familial multiple neoplasma. Patients with this medical condition are observed to have spotty skin pigmentation, multiple myxomas and tumors of the thyroid and endocrine glands. [read more]
CATCH 22 syndrome comprises an extensive range of developmental defects linked to microdeletions of chromosomal area 22q11.2. More known examples of CATCH 22 phenotype are Velo-Cardio-Facial syndrome, DiGeorge syndrome, and Opitz GBBB syndrome. The acronym CATCH 22 summarizes the major medical features of the 22q11.2 deletions. [read more]
When your child is born with a disease, knowledge about it will help you and your family cope with and learn how to raise the child as they need to. CDG, or congenital disorders of glycosylation, is a disease that affects the body's metabolic systems. It is also known by the name carbohydrate-deficient glycosylation syndrome. The central and peripheral nervous system are the most affected functions of those who are diagnosed with CDG syndrome. [read more]
Genetics plays a significant role when it comes to the diseases we get or do not get in our lifetime. Among those that are determined by genetics, is celiac sprue, which affects the autoimmunity of the small bowel. Research has shown that an estimated 1% of patients come from Indo-European origins, although the disease still remains to be largely underdiagnosed. [read more]
Central pontine myelinolysis is a neurological condition caused by damages incurred by the pons, the myelin sheath wherein the nerve cells in the brainstem are located. [read more]
Central serous chorioretinopathy is a condition of the eye wherein the central macula leaks fluid from the choriocapillaris, resulting in blurry vision. The word serous means serum, which is thin and watery-like in texture. The blurry vision is called metamorphopsia. Sometimes the patients see gray or blind spots, as well as occurring photopsia, or flashes of light. [read more]
Centronuclear myopathy belongs to a group of rare diseases called congenital myopathies. Congenital myopathies are conditions wherein the cell's nuclei is located within the skeletal muscle cells, an abnormal condition. Normally, the nuclei would be positioned in the periphery of the cell, but with centronuclear myopathy the nuclei is in the center, hence the name. [read more]
Cerebral amyloid angiopathy is a condition that affects the small blood vessels of the brain, wherein the amyloid protein associated with the Alzheimer's disease is deposited in the vessel walls. This may result in brain diseases such as dementia, brain hemorrhage, and stroke. Patients with cerebral amyloid angiopathy are usually older than 65 years old, although it may also occur in those who are around 45 years of age. The disease prevalence increases with age, and equally affects both men and women. Cerebral amyloid angiopathy is responsible for 5-20% of brain hemorrhage occurrences, and 30% of lobar hemorrhage. [read more]
Cerebral gigantism, also known as Sotos syndrome, is a rare hereditary disease characterized by excessive abnormal growth during birth, and extreme physical growth during early childhood years. The growth is purely physical, as there is no increased serum growth hormone levels. Sometimes, the condition may be accompanied by various levels of mental retardation, hypotonia, hindered motor, social, and cognitive development, and speech problems. Children born with cerebral gigantism are larger than normal during birth, and also possess a condition called macrocrania, where their heads are larger than normal. The disease may occur sporadically, or it can also occur in familial cases. [read more]
Cerebral palsy is a group of diseases that are non-progressive and non-contagious. The word cerebral refers to the cerebrum, and palsy means disorder of movement. Cerebral palsy is characterized by damaged motor control centers in the brains of young children. The brain damage that occurs does not worsen over time, although orthopedic difficulties may accompany the condition. There are 4 common classifications of cerebral palsy according to the damaged area of the brain. These are spastic, athetoid/dyskinetic, ataxic, and mixed. Spastic cerebral palsy is the most common type, and this type of cerebral palsy affects the motor cortex, corticospinal tract, or pyramidal tract, which leads to neuromuscular conditions. Patients with this type of CP also are hypertonic. Athetoid or dyskinetic type of CP have mixed muscle tone, and have either hypertonia or hypotonia. Ataxia, the least most common type of cerebral palsy, is characterized by tremors, hypotonia, and possibly some difficulties with motor skills. [read more]
Cerebrohepatorenal syndrome is a rare genetic disease characterized by the lack of peroxisomes, the cell structures that remove toxic substances from the body. Peroxisomes are found in the kidneys, liver and brain. [read more]
Cerebrotendinous Xanthomatosis (CTX) is a rare metabolic disease that affects the body's lipid storage system. [read more]
A chalazion is a cyst that grows in the eyelid caused by the inflammation of the meibomian gland. These cysts vary in styes and are usually painless until they start to swell. They eventually heal and disappear on their own after a few days or weeks, but oftentimes it needs treatment in order to heal faster. [read more]
Chaotic Atrial Tachycardia, also known as Multifocal Atrial Tachycaridia is a disorder characterized by abnormal rapid heart rate. The fast heart rate occurs when too much electrical impulses flow to the different chambers of the heart, making it function faster than normal. It is as well linked to other heart disorders such as atrial fibrillation. This heart disorder produces a rhythm of varying P-wave morphology at irregular PP intervals. The heart rate is usually between 100 and 140 beats per minute, but in a Chronic Atrial Tachycardia, multiple locations within the atria rev up and initiate electrical impulses. These impulses are sent to the ventricles, leading to a faster heart rate from 100 to 250 beats per minute. This very fast rate then increases the heart's workload. Chronic Atrial Tachycardia is common in elderly patients especially those with pre-existing health problems and COPD. [read more]
Lips that appear scaly, dry and may have one or more small cracks (fissures) are called chapped lips (cheilitis). They are often painful and there may or may not be swelling and redness. [read more]
Charcot's Disease, or more commonly known as Amyotrophic lateral sclerosis, is a neurodegenerative disease caused by the gradual death of motor neurons which control muscle movement. This illness usually causes muscle weakness and progressive atrophy, making the person lose his ablity to make voluntary movements in all parts of his body except for his eyes. Eventually the disease can lead to dementia and death. [read more]
CHARGE syndrome is a genetic disorder which consists of a set of congenital defects on newborn babies. It was first discovered in 1979 and the acronym was coined in 1981. The acronym CHARGE stands for Coloboma of the eye, Heart defects, Atresia of the nasal choanae, Retardation of growth, Genital abnormalities and Ear problems. [read more]
Chediak-Higashi syndrome is an inherited disease that attacks the nervous and immune systems which results to pale-colored eyes, hair and skin. [read more]
The Chen Kung Ho Kaufman McAlister Syndrome is a congenital defect where children are born with micrognathia, Wormian bones, cleft palate, congenital heart disease, dislocated hips, preaxial polydactyly of the feet, bowed fibulae, missing tibia and abormal skin patterns. It is a rare disease with an unknown etiology. The syndrome was first described in 1975 by Chen-Kung Ho, RL Kaufman and WH McAlister at the Washington University. [read more]
Cherubism is a genetic defect which consists of the protruding bone tissue at the lower part of the face, particularly at the jaws. At the beginning of one's childhood, his upper and lower jaw grow at an abnormal rate and will soon be replaced by cyst-like bones. Because of this sudden enlargement of the jaws, the person's cheeks become swollen and rounded just like that of a cherubim, and will soon face problems with tooth growth. The condition varies among people; some cases of cherubism are quite mild and in fact unnoticeable, but in others the defect is so severe they even encounter difficulties in chewing, talking and seeing. However, these growths become replaced by normal bones as the children enter adulthood, and they will soon have a normal appearance as they reach maturity. [read more]
Chickenpox is a classic infectious disease common among children. It is a rarely fatal illness that is characterized by red spots on the different parts of the body and become itchy over time. Persons that acquire chickenpox as well obtain lifelong immunity from the disease once it heals after a few weeks. [read more]
Chikungunya is a rare viral fever spread by mosquitoes that contain an alphavirus. Its name comes from a Makonde word that literally means 'that which bends up', as the arthritic symptoms of the disease result to a stooped posture on the patient. It was first discovered in 1955 after 1952 outbreak along the Makonde Plateau, which is located in between Tanganyika and Mozambique. [read more]
Childhood disintegrative disorder or CDD is a condition that consists of a child's delayed development in social function, motor skills and language. It is also known as disintegrative psychosis or Heller's syndrome. It is similar to autism, but normal development is first seen before a sudden regression occurs. It is not easy to detect CDD on children during its early stages; the disorder would only be obvious when the child starts to lose his language skills. Some children seem to react to seizures and hallucinations, much to the surprise of their parents. This is often described as a devastating condition, since it affects the family's future. Child disintegrative disorder was first described by Thomas Heller in 1908. [read more]
The Chinese restaurant syndrome is a collection of ailments experienced by a person due to the lack of Vitamin B6. Some of these ailments include flushing, sweating, headache and pressure on the face or mouth. Most people believe that this syndrome is caused by monosodium glutamate (MSG), but scientific research has found no link between the two. [read more]
Chlamydia trachomatis is a bacterial specie under the genus Chlamydia. Unlike the two other species, Chlamydia trachomatis cannot be detected by using the Gram stain. It is the first kind of Chlamydia found in humans, and was discovered in 1907. C. trachomatis is made up of a pair of human biovars, trachoma and lymphogranuloma venereum. [read more]
Cholangiocarcinoma is a kind of cancer affecting the bile ducts. It is a rare form of cancer linked with other diseases such as primary sclerosing cholangitis, congenital liver dysfunction, and infection with liver flukes. [read more]
Chondrodystrophy is a skeletal disorder caused by several genetic mutations that affect cartilage formation. It is characterized by a normal-sized body trunk but with shortened extremeties and limbs. People in this condition are often referred to as dwarves, and almost 1 out of 25,000 children is born with this disorder. In a normal cartilage development, hyaline cartilage covers the long bones as well as the spinal cord, and the limbs grow at the end of the long bones. The cartilage then develops into bone joints, but for a person with chondrodystrophy, this process would not happen and would lead to skeletal dysplasia. [read more]
Chondroectodermal dysplasia, also known as Ellis-van Creveld syndrome, is a kind of skeletal dysplasia caused by a genetic disorder. [read more]
Chromosome 15q partial deletion is a rare genetic condition produced by a chromosomal aberration wherein the long arm (q) of one copy of the some chromosome 15 is either partially or completely deleted. Angelman syndrome is formed when the mother's copy of the chromosome arm is deleted, while Prader-Willi syndrome is produced. Aside from the deletions, the uniparental disomy of chromosome 15 leads to the same genetic disorders. [read more]
Chromosome 15q trisomy is genetic disorder wherein the end of the long arm of chromosome 15 (15q) appears thrice instead of only twice in the body cells. This results to growth delays either before or after birth as well as mental retardation and malformations in the head and face. Other abnormalities are a short neck, disfigured fingers or toes, scoliosis and other skeletal malformations. Males with this condition suffer from genital problems, and cardiac illnesses. In most cases, Chromosome 15q trisomy is a result of a translocation of chromosome balance in one of the parents. [read more]
Chromosome 22, microdeletion q11 syndrome, also known as Di George Syndrome, Velocardiofacial syndrome and Strong syndrome is a genetic disorder caused by the deletion of a small part in chromosome 22 and occurs near the midsection of the chromosome located at q11.2. [read more]
Chronic daily headaches are incessant head pains experienced daily occur at least 15 days a month, for more than three months. [read more]
Chronic granulomatous disease (CGD) is a group of hereditary illnesses wherein some cells in the immune system have a difficulty producing reactive oxygen compounds the body uses to kill ingested pathogens. This dyfunction leads to the presence of granulomata in the different organs of the body. [read more]
Chronic neutropenia is a disorder of the blood wherein there is a decreased number of the neutrophils, which has an effect on the ability of the body to battle infection. Neutrophils act as the body's major defense against particular fungal infections and acute bacterial. When their count goes under 1,000 cells for every blood microliter, the danger of infections somewhat increases. [read more]
Chronic sinusitis is the inflammation of the mucous membranes in the sinuses causing fluid buildup that plugs the sinus cavity and prevents normal mucus drainage. The condition recurs or stays longer than 12 consecutive weeks. [read more]
Cleft palate is a type of congenital defect that results from an abnormal facial development that occurred during the gestation period. It can occur together with a cleft lip. The cleft is defined as a division in the natural structure of the human body. The cleft palate occurs when the two plates of the skull that form the roof of the mouth are divided. The cleft palate can be a complete or incomplete occurrence. . [read more]
Clubfoot is a congenital defect wherein the foot is inverted and down. It is a common defect, occurring in one in every 1,000 births. The condition more commonly afflicts males than females. When untreated, those who have clubfoot will seem like they are walking on their ankles. [read more]
Cohen syndrome is an uncommon genetic condition characterized by obesity, prominent frontal teeth, and decreased muscle tone. In some individuals, there is a low level of white blood cells. Its transmission is in an autosomal recessive manner with variable expression. [read more]
Cold agglutinin disease is a form of hemolytic anemia, wherein there is a decrease in the levels of red blood cells caused by malfunction of the body's immune system. The body mistakenly creates antibodies that destroy healthy red blood cells during cold temperatures. Red blood cells normally have a 120-day lifespan before being disposed by the body's spleen; however, in people with the disease, they are prematurely destroyed and production in bone marrow can't compensate for the loss. [read more]
Familial combined hyperlipidemia is categorized as a disorder brought about by abnormally high levels of high blood triglycerides and cholesterol. This type of medical condition is typically passed down or an inherited disorder through family generations. [read more]
Common Variable Immunodeficiency is type of disorder that is characterized by extremely low levels of serum immunoglobulin or what is known as antibodies as well as the increased susceptibility to infections. The underlying cause if this medical condition is not known, but is known to be a relatively common type of immunodeficiency. [read more]
Cone dystrophy is categorized as a genetic form of blindness which typically results in the impairment of the patient's photoreceptor cone cells, which is an essential part of the human vision. [read more]
Congenital adrenal hyperplasia is characterized by a number of genetic conditions that directly affects the adrenal glands. This medical condition can significantly interfere with normal development and growth among children. This includes the normal development of the patient's genitals, both affecting men and women. [read more]
Congenital cystic adenomatoid malformation (CAM) is categorized as a highly distinct entity, which was discovered way back in 1949. CAM is characterized as a developmental hamartomatous, an abnormality of the lung that comes with an adenomatoid abundance of cysts that resemble bronchioles. [read more]
Congenital deafness may or may not be inherited or genetic in nature. It can also be dues to the exposure of the pregnant mother to infections such as the rubella virus. Roughly about 80% of the congenital deafness cases that are-syndromatic, which are highly heterogeneous but the mutations in the Connexin 26 molecules usually account to almost half of the patients. [read more]
Congenital diaphragmatic hernia (CDH) is the medical term used to refer to a number of different congenital birth defects that usually involve the highly abnormal development of the child's diaphragm. Among the most common deformity in majority of the cases is malformation of the diaphragm. Newborns with CDH typically suffer from severe respiratory pain which is considered as a life-threatening case unless treatment is administered appropriately. [read more]
Congenital facial diplegia or more popularly known as Mobius syndrome is categorized as an extremely rare genetic disorder that causes facial paralysis among newborn babies. This is known to be caused by the underdevelopment of the sixth and seventh cranial nerves that are known to control the facial expression and eye movements. [read more]
Congenital heart disoder is a kind of heart ailment diagnosed in newborns, and usually includes some structural defects that often lead to arrhythmia as well as the possible malfunctioning of the heart muscles. This disease normally appears when the heart of the fetus is not able to function properly because of incomplete development or some irregular structure of the valves. [read more]
Congenital microvillus atrophy is identified to be one of the leading causes of secretory diarrhea during the infant's first weeks of life. A The medical term microvillus atrophy was initially used to categorize the disease way back in 1982. The typical clinical presentation of congenital microvillus atrophy includes the profuse watery secretory diarrhea that usually starts in the first few hours of life. [read more]
Copper transport disease is a hereditary disorder involving copper metabolism, passed on as X-linked trait. Copper builds up at unusually low levels in the brain and liver, but higher level than normal in the intestinal lining and kidney. [read more]
Cot death, also known as sudden infant death syndrome (SIDS), is an unexplained death among infants ranging from 1 to 12 months old. This condition is common among infants with low birth weight. [read more]
The genetic disorder Cowden's disease causes the tumor-like growths called hamartomas to develop on one's skin or mucous membranes. Noncancerous and small, this may also grow in various areas of the body including the intestinal tract. Patients with Cowden syndrome are much more likely to contact uterus cancer, breast cancer, and thyroid cancer. [read more]
Cowpox or catpox is now an uncommon skin disease caused by a virus called cowpox that is transmitted by touching infected animals. In the 18th century, the disease was contracted when a person touches the udders of cow that are infected. Today, however, this disease that causes hands to develop postular lesions and the skin to have red blisters is usually transmitted by touching cats, hence it is also called cat pox. Interestingly, the cowpox virus proved to be useful in the past two centuries when it became the first vaccine for the smallpox. [read more]
Craniodiaphyseal dysplasia (CDD or lionitis) is an uncommon hereditary autosomal recessive bone disorder characterized by deposits of calcium in the skull, causing the size of cranial foramina and the hole in the cervical spinal canal to shrink. This deforms facial features of the patients, who in most cases die at an early age. [read more]
Craniofacial dysostosis is a disorder that was first described by a French doctor named Octave Crouzon. The doctor found out that the patients who are affected by the disorder are a mom-and-daughter tandem, suggesting that craniofacial dysostosis is of genetic basis. [read more]
Craniosynostosis is a condition that arises when one or more sutures that join the skull of an infant or child close(s) prematurely, resulting to complications in normal growth of the skull and brain. It can cause craniostenosis, a skull deformity, and increased intracranial pressure. It affects one in 1,800 to 2,200 infants. [read more]
The fatal and rare denerative brain disease Creutzfeldt-Jakob disease (CJD) is caused by proteins called prions that multiply exponentially by refolding native proteins to infected state. Disrupting cell function, CJD results to cell death, rapid and progressive dementia, loss of memory, hallucinations and behavioral changes. Death can occur in as little as four months after the onset of the first symptoms. [read more]
Cri du chat syndrome is a genetic abnormality caused by the partial deletion of the chromosome number 5. Its name is French for cry or call of the cat in reference to the meowing sound the infant makes when crying, a manifestation of the infant's larynx and nervous system problems. [read more]
The rare syndrome Cronkhite-Canada is a disorder prevalent among individuals 50 to 60 years old and characterized by the presence of multiple polyps in our digestive tract. The polyps affect the large intestine, stomach, small intestine and esophagus, causing gastrointestinal disturbances, malnutrition, malabsorption and even colorectal cancer. The polyps are hamartomas, growths which are often non-cancerous. [read more]
The rare medical condition called Crow-Fukase syndrome is also called POEMS syndrome after the clinical features that distinguish it from other diseases ? Polyneuropathy (peripheral nerve damage), Organomegaly (abnormal enlargement of organs), Endocrinopathy (damage to hormone-producing glands)/Edema, M-protein (an abnormal antibody) and Skin abnormalities (including hyperpigmentation and hypertrichosis). [read more]
Cryptosporidiosis is a disease of the gastrointestinal tract characterized predominantly by diarrhea usually starting when a tiny one-celled parasite called Cryptosporidium enter the body and travel and hollow out in the small intestinal wall and force out of the body by means of feces. [read more]
Cutaneous anthrax was once known as a rather obscure disease is now a household name, largely owing to the media hype since it was used bioterrorism agents in the past. There are three different types of anthrax: gastronintestinal, inhalational and cutaneous. Anthrax is actually categorized as a zoonotic disease, which means, it mainly affects animals and not humans. This disease can be contracted through handling contaminated excrement from the infected animals. [read more]
Cyclic vomiting syndrome is a chronic vomiting disorder having no identified cause. It is most common in children ages 3-7 years which they will outgrow in teenage years. But since it is recurring, it can occasionally happen in adults as well. [read more]
Cystinosis is categorized as an inherited disorder that affects chromosome 17, under which the amino acid cystine is not properly transported out of the patient's body cells. This would cause organ and tissue all damage throughout the body and may begin to manifest at any age, affecting both male and female. This mutated gene CTNS is an autosomal recessive, which means both parents are carrier of this gene resulting to the child to inherit to defective gene copies. [read more]
Cystinuria is an type inherited metabolic disorder, where the natural reabsorption and filtration of amino acid, cystine, lysine and aginine by the patient's kidney are defective. This would cause the urine to contain elevated levels of cystine that causes the formation of kidney stones. This medical condition account to about 1% of kidney stones and usually occurs to 1 per every 7,000 people and are more common among Jews. [read more]
De lange syndrome, or Cornelia de Lange syndrome (CdLS), is a rare congenital disorder that affects a person's physical features and developmental processes. [read more]
Dengue fever is defined as a disease involving four connected viruses being multiplied by a specific mosquito species. The fever ranges from severe to mild; mild dengue results to rash, joint and muscle pain, and high fever. Its severe forms can additionally result to sudden blood pressure drop, severe bleeding, and death. [read more]
Dent's disease, also known as Dent Disease, is a rare X-linked recessive condition that is hereditary. It affects the Kidney and is one of the many causes of Fanconi syndrome. It is characterized by hypercalciuria, tubular proteinuria, nephrocalcinosis, chronic renal failure and calcium nephrolithiasis. Because it it only associated with the X-chromosome, this disease is most common to males. Studies show that more men (9 out of 15) suffer from this disease compared to women (1 out of ten) at an average age of 47 [read more]
Dermatopathia pigmentosa reticularis is a congenital disorder most common in women. It is a rare type ectodermal dysplasia disorder. Although most cases are reported in Europe, there is not enough evidence to say that the disease is associated with any race. [read more]
Diabetes mellitus, popularly known as "diabetes" is a chronic disease. It is associated with very high levels of the glucose sugar present in our blood. There are two mechanisms for diabetes, patients may experience either of the two to suffer from this disease. The first is that there is not enough production of insulin produced by the pancreas as a result, blood glucose level are lowered or type 1. The second is that the cells is not sensitive enough to the action of insulin or type 2. [read more]
Diabetis insulin dependent is also known as diabetes mellitus type 1. This is a chronic disorder of our system's failure to produce inadequate amount of insulin. Characteristics of this disease is loss of the beta cells which are responsible for producing insulin. These cells are found in the islets of Langerhans in our pancreas. This loss leads to insulin deficiency. There is no known measure to prevent this disease. Affected people mostly are healthy when this disease occurs. The cells sensitivity and responsiveness to insulin are not abnormal. This type of diabetes can affect both children or adults, although it was previously called "juvenile diabetes" as it usually affects children. [read more]
Diabetic neuropathies is a microvascular trauma that involves capillaries and venoules that provides blood and nutrients to the nerves, it is cause by diabetes melllitus. [read more]
DiGeorge sequence (DGS), is an abnormal developmental condition that involves the third and fourth pharyngeal pouches. [read more]
DiGeorge Syndrome also known as 22q11.2 deletion syndrome, Velocardiofacial Syndrome and Strong Syndrome is a disorder known by total or partial absence or defective chromosome 22. [read more]
Dilated cardiomyopathy (DCM) also known as congestive cardiomyopathy, is refer to enlargment and weakening of the heart that leads to decrease cardiac output and affects other body organs. DCM is one of the cause of congestive heart failure (CHF). This condition also occurs in yound adults and children. [read more]
A condition in which young children develop normally until age 3 or 4 but then demonstrate a severe loss of communication, social and other skills is called a childhood disintegrative disorder. It is also known as Heller's syndrome. [read more]
Down syndrome otherwise known as trisomy 21 is a disorder caused by the presence of an extra 21st chromosome. This disorder was termed as chromosome 21 trisomy in 1959 by J?r?me Lejeune. It is characterized by major and minor structural differences. Down syndrome is always associated with impairments of the cognitive ability and the physical growth. Facial appearance also is different. This disorder can be known even during pregnancy or right at birth. [read more]
Doxorubicin-induced cardiomyopathy is a condition that occurs as a reaction of the Doxorubicin. In this case, it targets the heart. [read more]
Dracunculiasis also more commonly called and known by people as Guinea worm disease (GWD), is a kind of infection that is caused by the parasitic organism Dracunculus medinensis. It is also alternately known as "Guinea worm" or "Medina worm" or "fiery serpent" in English. The name reflects the word, which is Latin, Dracunculus. This means "little dragon". [read more]
Duane syndrome or DS is a very rare, congenital disorder that affects the eye movement. It is ofte times characterized by the eye's inability to turn out. It is named after Alexander Duane who made a very comprehensive discussion of the disorder back in 1905. Other terms referring to this condition also include Congenital retraction syndrome, Eye Retraction Syndrome, Duane's Retraction Syndrome or DR syndrome, Retraction Syndrome, and Stilling-Turk-Duane Syndrome. [read more]
Dubin-Johnson syndrome is a disorder usually autosomal and recessive. This condition causes an increase of bilirubin without elevation of the liver enzymes ALT and AST. This condition is often associated with the inability of hepatocytes to secrete produced conjugated bilirubin to the bile in the liver. It can be diagnosed in early infancy. Building up of biliburin in the bloodstrean cause yellowish color of the eye and skin. [read more]
Dubowitz syndrome is a very rare genetic disorder. It is often characterized by microcephaly, slow to very retarded growth and a rather unusual facial appearance like having small or round or even triangular shaped with a pointed chin with either a broad or wide-tipped nose, and eyes which are usually wide-set and drooping eyelids. It was first described by English physician Victor Dubowitz in 1965. Majority of cases are from the Russia, United States, and Germany. It also appears to have an equal affect to different ethnicities and even genders. [read more]
is a form of muscular dystrophy that is characterized by decreasing muscle mass and progressive loss of muscle function in male children [read more]
Dysencephalia splachnocyxtica is not an ordinary ailment and is characterized by a severe genetic disorder that primarily affects the kidney along with some related cystic dysplasia, that causes the malfunctioning of the central nervous system and can eventaully create several hepatic developmental defects. [read more]
Dysgerminoma is considered to be the most common classification of malignant form of germ cell ovarian cancer. Dysgerminoma usually occurs in adolescence and early adult life; about 5% occur in pre-pubertal children. Dysgerminoma is known to be an extremely rare medical condition that usually occurs after age 50. Dysgerminoma occurs in both sections of the ovaries in more than 10% of patients and, in a further 10%, there is microscopic tumor found to have developed in the other ovary. [read more]
Dyskeratosis congenita is also referred to as Zinsser-Engman-Cole Syndrome. It is a type of rare disease that is characterized by a gradual failure of the bone marrow. [read more]
A dysplastic nevus syndrome is characterized as an atypical mole that usually stands out from the ordinary moles, with some indistinct borders and larger than any common mole. The color of these moles also varies from dark brown to pink, and are usually flat. Dysplastic nevus grows in any surface of the skin but has been found to more common on men's trunk and women's calves. [read more]
Dysrhythmias are also known as tuberous sclerosis, which is categorized as a very rare form of genetic disease that causes growth of benign tumors in several parts of the body. The most common areas of growth include the brain, skin and kidneys. [read more]
Emotional eating, more popularly known as bulimia or binge eating is an abnormal eating behavior. This eating disorder became a distinct psychological illness in 1980. [read more]
Ebstein's anomaly, or more popularly referred to as Ebstein's malformation, is characterized by a heart defect that primarily consists of the malformation of the tricuspid valve. This is a serious medical condition where 1 or 2 out of the 3 leaflets are found to be stuck on the heart's wall, hampering the natural movement of the heart. In most cases, there is a hole found in the atria wall, causing malfunctioning as well as leakage. [read more]
Ectopia cordis is categorized as ab extremely rare congenital malformation of the heart that still remains very not easy to treat up to this day and age. Ectopia cordis is characterized by the development of the heart outside the chest wall, which means it is not protected by the sternum or the skin. In such cases, it is also likely that other organs may also form outside the body. [read more]
Edwards' syndrome is primarily caused by a gene mutation, particularly the extra copy of chromosome 18. For this very reason, it is also known by a medical term trisomy 18 syndrome. The presence of the extra chromosome has proven to be quite lethal for most babies who are born with this medical condition. Edwards' syndrome causes major physical malformations and also severe mental retardation and also comes with high mortality rate. [read more]
Ehrlichiosis was first discovered towards the end of the 19th century, which is a disease that is transmitted by ticks, otherwise known as tick-borne diseases. Among the very first victims identified were from Japan that was characterized by swollen lymph nodes and fever. In the South Central and Southeastern regions of United states, the lone s tar tick, known as Amblyomma americanum has been identified as the primary culprit of this medical condition. [read more]
Empty sella syndrome refers to the medical disorder that primarily involves sella turcica, which is actually a bony structure that is located at the base of the brain that typically protects and surrounds the pituitary gland. Its is a condition that is often revealed during tests for pituitary disorders, when radiological imaging of the pituitary gland reveals a sella turcica that appears to be empty. Empty sella syndrome is found to be more common in women who have overweight issues or those who also have abnormally high blood pressure. [read more]
Encephalitis is an acute inflammation of the brain, normally caused by a viral infection. It's a rare disease that only occurs in approximately 0.5 per 100,000 individuals - most commonly in children, the elderly, and people with weakened immune systems. [read more]
Encephalitis lethargica or otherwise known as von Economo disease is categorized as an atypical manifestation of encephalitis. Also known as "sleepy sickness" or as "sleeping sickness".EL is a dreadful illness that swept the world in the 1920s and then vanished as quickly as it had appeared. EL primarily attacks the brain, then leaving some of its victims in a rather statue-like condition, both motionless as well as speechless. [read more]
Endometrial cancer is cancer that starts in the lining of the uterus called the endometrium. It is one of the most common cancers in American women. About 40,000 American women receive a diagnosis of endometrial cancer each year, which makes it the fourth most common cancer found in women. [read more]
Also known as bed-wetting, nocturnal enuresis of nighttime incontinence is a developmental stage and is not a sign of toilet training gone bad. Primary enuresis is the term for children who have never been dry at night. Those who begin to wet the bed after at least six months of dry nights are considered to have secondary enuresis. [read more]
Eosinophilic granuloma is a rare disease often involving proliferation of clones of the langerhans cells, ana some abnormal cells from the bone marrow which are and capable of migrating from the skin to the lymph nodes. In a clinical test, its presentations may range from an isolated bone lesions to a disease involving many parts of the body systems. [read more]
Ependymoblastoma is a malignant tumor which is very rarely reported. It is also known as Primitive neuroectodermal tumor or PNET. It usually occurs in children who are under 10 years of age. Ependyoblastoma is classified into two types which is based on its location in the body. It can be peripheral PNET or CNS PNET. [read more]
Epicondylitis (lateral) otherwise known as tennis elbow, is a very common problem encountered by physicians in the orthopedic practice. It is an injury due to the overuse of the part which involves the extensor or the supinator muscles originating on the lateral part of the epicondylar region of the distal humerus. It has been noted to occur in at least 50% of tennis athletes. But this condition is not only limited to the tennis players, it also has been reported to occur due to any overuse of the specific parts to many activities. Lateral epicondylitis is also very common in today's very active society. [read more]
Epidermodysplasia verruciformis is also termed as Lewandowsky-Lutz dysplasia or Lutz-Lewandowsky epidermodysplasia verruciformis. This is a very rare skin disease which is characterized by growth of scaly macules and rashes or papules, especially on the patient's feet and hands. Epidermodysplasia usually begins in childhood stage without any known cure. In some cases though, high doses of vitamin A may help ameliorate the condition. [read more]
Epidermolytic hyperkeratosis is also called bullous congenital ichthyosiform erythroderma. This condition is a relatively rare autosomal ichthyosis which is dominant. It was first described in 1902 by Brocq as bullous a ichthyotic erythroderma to distinguish it from the congenital ichthyotic erythroderma. The defect which causes the condition is found to be in the genes for keratin 1 and 10. [read more]
Erysipelas also known as Saint Anthony's Fire, is a streptococcus bacterial infection of the skin that results inflammation. It occurs on any part of the body, including the face, arms, fingers, legs and toes. [read more]
Commonly called as the fifth of a group of once-common childhood diseases with small rashes where the other four are measles, rubella, scarlet fever and Dukes' disease, erythema infectiosum is what doctors refer today as parvovirus infection. It is still a common but mild infection in children because it generally requires little treatment. Some people often call it a slapped-cheek disease because of the face rash that develops resembling slap marks, but for some pregnant women, it can lead to serious health problems for the fetus. [read more]
A serious form of cancer from your 10 inch long tube that connects your throat and stomach and starts in the inner layer of your esophagus. [read more]
Esotropia is a form of squint or strabismus. In this condition, one or both of the eyes are turned inwards. Esotropia can be present constantly or may occur in an intermittent manner. It can usually give a cross-eyed appearance of the affected person. Esotropia is also sometimes wrongly called as lazy eye. [read more]
Hypertension, HTN or HPN commonly called to as "high blood pressure?. It is a medical problem in which the blood pressure or BP of a person is elevated. A person is considered to be hypertensive if a person's systolic pressure is 140 mmhg and above while the diastolic pressure is 90 mmHg and above. There are two classification of hypertension , the essential or primary hypertension ,indicates that no specific medical factor that can explain the condition. The secondary hypertension indicates the condition of the patient is cause by another disorder. [read more]
Essential thrombocytopenia refers to low platelets level in blood. The normal platelet count in the blood ranges from 150,000 and 450,000 per mm3. While in thrombocytopenia it has less than 150,000 per mm. [read more]
Ethylmalonic aciduria also called as Organic academia and organic aciduria, this disease is a metabolic disorders. That affects the amino acid breakdown. The alteration of amino acids metabolism can affect not just one organ but the whole organs of the body. There are four types of ethylmalonic aciduris, these are the methylmalonic acidemia, propionic acidemia, isovaleric acidemia, and maple syrup urine disease.[1] [read more]
Exophthalmos is referring to as a bulging of the eye out of the orbit bone. There are two types of exopthalmus, its either bilateral, it is often seen in Graves' Disease or unilateral cause by an orbital tumor. [read more]
Extrapontine myelinolysis is a neurological disorder wherein the pons area, or myelin sheath in which the nerve cells are located, is damaged. [read more]
Factor II deficiency is categorized is an extremely rare disorder. To date, there are only about 26 reported cases of this medical condition and is said to only occur 1 in 2 million individuals. This is known as an autosomal recessive disorder that equally affects both women and men. This is also known as prothrombin deficiency, which is identified as a precursor to thrombin and manifests as an abnormality of the prothrombin structure. [read more]
Familial amyloid polyneuropathy, otherwise known as Corino de Andrade's Disease, is a deadly and untreatable health condition that was first identified in the 1950s. This disease is characterized by amyloidogenic transthyretin protein that aer systematically deposited particularly in the peripheral nervous system of the body. [read more]
A genetic health condition, familial Mediterranean fever is characterized by the repeating occurrences of inflammation in the chest, abdomen, or joints. These episodes, which were found to be painful, typically happen along with fever, and at times, a rash. [read more]
Familial paroxysmal peritonitis or also known as Familial Mediterranean fever is an inherited inflammatory disorder usually occurring among people with Mediterranean origin. A rare disorder, it is typically diagnosed during childhood. [read more]
Fanconi's anemia (FA) is an inherited ailment that involves children and adults belonging to all ethnic backgrounds. FA is distinguished by skeletal abnormalities, short figure, elevated occurrence of solid tumors and leukemias, failure in bone marrow and cellular sensitivity destroying agents like mitomycin C. [read more]
Febrile seizure usually happens in young kids and babies and it is because of high body temperature and fever. Luckily, when a child or a baby experiences febrile seizure it does not result to damage in the brain or any severe complications. Although, a baby that has febrile seizure should be attended immediately by a physician because the baby has a serious fever in this case. Even though the baby has a fever he need not be admitted but the physician must closely monitor the condition of the baby. [read more]
Female Pseudo-Turner Syndrome, also known as Noonan syndrome, is a rare hereditary disorder that is usually detected once the patient is born. [read more]
Fetal thalidomide syndrome primarily results from the utero exposure to thalidomide. This medical condition is typically characterized the anomalies in the mental function and fetal growth, as well as other abnormalities that may include facial, cardiac, limb, kidney, anal, spinal and CNS. Preganant women who are exposed to thalidomide during the first trimester of pregnancy has 10-15% of risk of embryopathy. [read more]
Also known as pyrexia is a symptom of disease that describes that there is an internal termporary increase in the body core temperature which is above the regular body's thermoregulatory set point usually about 1 ? 2 0C. [read more]
Fever blisters or cold sores are the small and usually painful bumps or lesions on the skin of the lips, mouth, gum, or the lip area. These blisters occur when a person has Herpes labialis, an infection caused by the herpes simplex virus. [read more]
FG syndrome is a rare genetic disorder that causes poor muscle tone, an abnormally large head, and recurring rectal problems. [read more]
Also commonly called as parvovirus infection or erythema infectiosum is a fifth of the common childhood diseases with similar rashes. Other four are measles, rubella, scarlet fever and duke's disease. With a compromised immune problem or with certain anemia's this disease can be also serious to people. [read more]
Filovirus is a group of viruses that generate hemorrhagic fever. Among the popular kinds of filovirus is the Ebola Marburg disease. It first had an outbreak in Zaire and Sudan in 1984. [read more]
Flatulence or flatus is passing of intestinal gas which generally everyone passes gas at least 12 times or more. Flatus usually isn't serious, but sometimes unexpelled gas can cause intense, intermittent pain in the abdominal region. [read more]
Floating-Harbor syndrome is a rare genetic disease that usually features a short stature among infants. Affected children suffer from delayed bone age, slow development of expressive language abilities, and a triangular shaped face. It is an autosomal dominant disorder that was first described in 1973. [read more]
Floppy valve syndrome or also known as Mitral valve prolapse is characterized by the displacement of an abnormally thickened mitral valve leaflet into the left atrium during systole. MVP, in its nonclassis form, carries a low risk of complications. Severe cases of MVP though may include complications such as infective endocarditis, regurgitation and in rare circumstances, cardiac arrest that usually results to sudden death. The term for the disease was coined by J. Michael Criley in 1966. It gained acceptance over JB Barlow's ?billowing? of the mitral valve description. MVP has different subtypes namely classic, nonclassic, symmetric, asymmetric, flail or non-flail. The subtypes are based on the leaflet thickness, convacity and type of connection to the mitral annulus. [read more]
Influenza or flu is a viral infection that attacks the respiratory system including the nose, throat, bronchial tubes, and lungs. Though it is commonly called flu, influenza is not the same virus that causes diarrhea and vomiting. [read more]
Foix-Chavany-Marie syndrome is a partial paralysis on the face, the pharynx and the jaw. Affected areas are still capable of certain movements like eating, smiling, and facial movements. Upper and lower limbs are usually unaffected. This syndrome is caused by blood supply loss or interruption in a specific part of the brain. This condition is also called bilateral anterior opercular syndrome. It was discovered in the year 1926 by Charles Foix, Jean Alfred ?mile Chavany and Julien Marie. [read more]
Forbes Disease occurs in 1 for every 100,000 live births. It is also called Cori's type III glycogenosis. It was Gerty Theresa Radnitz Cori and Gilbert Burnett Forbes who developed an accurate description of this condition. This rare disease is due to a missing enzyme which causes abnormal glycogen levels to be absorbed by the body, namely the liver and the skeleton musculature. [read more]
Normal large, superficial sebaceous (oil-producing) glands seen on the moist tissue that lines some organs and body cavities (mucosal surfaces) are called Fordyce spots. Most commonly found at the border of the lips, the inner foreskin and on the head of the penis, the spots are asymptomatic. The lesions are also asymptomatic, but irritation or itching may happen if people treat the bumps inappropriately. [read more]
A rare disorder, Fox-Fordyce disease becomes a problem for most women who fall between ages 13 to 35 years. Males and young children may also develop this medical problem. Fox-Fordyce Disease is also called ?sweat retention disease' and ?apocrine duct occlusion'. [read more]
Fragile X Syndrome is a defect in the X chromosome. This condition is the cause of mental retardation in people. People with defective X chromosomes exhibit various signs and symptoms. Those who have this body condition possess chromosomes which are fragile, prone to tear and break downs. Fragile X syndrome affects 1 in every 2,000 males. [read more]
Frambesia, also known as yaws, is a chronic infectious disease common in places with tropical climate. It often affects children below 15 years of age. [read more]
Fraser Syndrome is also called Cryptophthalmos-syndactyly syndrome. It is a rare genetic disorder with abnormalities that include that of the head, the lungs, the kidneys, and the limbs. Malformations are a combination of acrofacial and urogenital ones which may be with cryptophthalmos or without. [read more]
FRAXA Syndrome (also, Fragile X) is a cause of mental retardation most commonly inherited by males in the family. It is the most commonly observed cause of autism. [read more]
Friedreich's Ataxia is inherited. It damages the body's nervous system, the damage being of a progressive nature. It was Nicholaus Friedreich who in the 1860's named the condition ?Ataxia? to mean coordination problems like clumsiness and unsteadiness. Continual degeneration of nerve tissues in one's spinal cord causes it to thin overtime. This condition also affects nerves responsible for arm and leg muscle movements. [read more]
Fructose intolerance is also known as fructose poisoning which is a condition that can be inherited. This disorder is marked by a liver enzymes deficiencies specifically those responsible to metabolize fructose. Another name for the disorder is hereditary fructosemia. [read more]
This disorder is also known as essential fructosuria and hereditary fructosuria often seen in children. It is caused by a hepatic fructokinase deficiency which leads to excretion of fructose in urine. Fructosuria is a benign condition, since fructose is not broken down to glucose; it is simply excreted out of the system in urine. Fructosuria is unlike Fructosemia which means fructose in the blood. The latter is a more serious condition that can cause growth abnormalities and even coma in some severe cases. Unlike fructosuria, fructose in Fructosemia is converted to fructose-1-phosphate which uses up the body's ATP stores. This will prevent the proper release of glucose from glycogen, uses up the free phosphate available in the body, and causes uric acid levels to rise. [read more]
Galactokinase deficiency is also known as GALK deficiency or Galactosemia type 2. This disorder is marked by the accumulation of galactitol and galactose in the body due to the decreased conversion of galactose to galactose-1-phosphate by the enzyme galactokinase. [read more]
Galactose-1-phosphate uridyltransferase deficiency is also known as the first of three types of Galactosemia or otherwise called classic galactosemia. Since galactose is converted through the action of three enzymes, any deficiency in either of these enzymes would lead to galactosemia. Classic galactosemia or galactosemia type 1 is brought about by a deficiency in one of the three enzymes in the Leloir pathway known as Galactose-1-phosphate uridyltransferase or GALT. GALT is responsible for converting galactose into usable glucose in the body. [read more]
Galactosemia is a rare congenital metabolic disorder which undermines the affected individual's ability to properly metabolize galactose, one of the sugars found in dairy products. The disorder was first described in 1917 by Goppert, and later fully identified in 1956 by a group led by Herman Kalckar. The incidence ratio of classic type galactosemia is 1 per 47,000 births. Glactosemia is often confused with lactose intolerance. However, galactosemia is a worse condition. Individuals with lactose intolerance have an inherited shortage of the enzyme lactase. These individuals experience abdominal pains after ingesting lactose products but don't have long term effects. In galactosemia, individuals who are afflicted with this disorder tend to have permanent damage to their bodies. [read more]
Gastric dumping syndrome, otherwise known as rapid gastric emptying, occurs when the small intestine's lower end, called the jejunum, fills up too fast with undigested food routed from the stomach. Rapid gastric emptying is experienced in two forms: early dumping commences after the meal or during the meal, while late dumping occurs about 1 to 3 hours after the meal. Early dumping is usually linked to difficulty in digesting fats. Late dumping, on the other hand, is associated with difficulty in digesting carbohydrates. [read more]
Primary gastric lymphoma is a rare condition whereby a lymphoma originates from the stomach. This condition accounts for less than 15% of gastric conditions, and only 2% of all lymphomas. However, because of the fact that the stomach is an extremely usual site for lymphomas that originate in other organs that are in metastasis to the stomach, the stomach is one of the most likely sources of the growth of lymphomas in other areas in the gastrointestinal tract. With metastasis, the organ from where the lymphoma originates is not adjacent to the stomach, but nonetheless the disease is spread by travel in the bloodstream (lymphoma is a cancer originating from a type of white blood cells or lymphocytes). [read more]
Eosinophilic gastroenteritis is a condition first documented in 1937 by Kaijser. It manifests as the diffuse eosinophilic infiltration in the tissues of the gastrointestinal tract, usually with chronic relapses. Any point of the gastrointestinal tract may contract this condition, and how it manifests depends on the extent of the involvement of the bowel wall. Common areas of the GI tract that are affected are the stomach, the small intestine, and the colon. [read more]
Gastroparesis, also known as delayed gastric emptying, is a medical condition consisting of a paresis (partial paralysis) of the stomach ("gastro-"), resulting in food remaining in the stomach for a longer period of time than normal. Normally, the stomach contracts to move food down into the small intestine to digest, while the vagus nerve controls these contractions. Gastroparesis occurs when the vagus nerve is damaged and the muscles of the stomach and intestines do not function normally. Food then moves gradaully or stops moving through the digestive tract. [read more]
Gaucher disease is the disease of the lysosome, resulting from the deficiency of the glucocerebrosidase disease resulting in accumulation of its fatty substrate, glucocerebroside. This causes fat to accumulate in the brain, bone marrow, liver, lungs, kidneys, and spleen. People with Gaucher disease are prone to infection. Named after Philippe Gaucher, a French physician who originally described the disease in 1882, the disease is now known to be an autosomal recessive inheritance. Type I is most common (1 in 50,000 births), usually occurring among Ashkenazi Jewish people. Type II manifests beginning 6 months after birth, occurring in 1 in 100,000 live births. Type IIIbegins at any time in life, and occurs in 1 in 100,000 live births. [read more]
Gaucher disease is a commonly found lysosomal storage disorder, resulting from the deficiency of the glucocerebrosidase enzyme. The absence of this enzyme allows the collection of fatty material in organs like the brain, bone marrow, kidneys, spleen, lungs, and liver. The disease was originally described by French physician Philippe Gaucher in 1882. Type I, occurring in early life, occurs in 1 in 50, 000 live births and is most common among the Ashkenazi Jews. Type II, occurs in 1 in 100,000 live births, usually begins to manifest after 6 months of birth. Type III can begin at any time in life, and manifests in 1 in 100,000 live births. [read more]
Gaucher disease was first described in 1882 by Philippe Gaucher. Today, this is the most common lysosomal storage diseases, resulting in deficiency in glucocerebrosidase. As a result, fatty material settles in the liver, lung, spleen, brain, bone marrow, and kidneys. Type I which occurs in 1 out of 50,000 live births is most common among Ashkenazi Jews and usually manifest early in life or in adulthood. Type II Gaucher disease occurs in 1 out of 100,000 live births manifests after 6 months of age. Type III manifests in 1 out of 100,000 people as well, and occurs at any point in a person's life. [read more]
First described in 1882 by French physician Philippe Gaucher, Gaucher disease is one of today's most common lysosomal storage diseases. As a result of the lack of the enzyme glucocerebrosidase, fatty materials accumulate in the brain, bone marrow, liver, lung, spleen and the kidneys. This disease is characterized by autosomal recessive inheritance, and as such, is equally likely to affect both male and female individuals. [read more]
Gelineau disease, otherwise called narcolepsy, is a neurological disorder that causes excessive daytime sleepiness or EDS. The patient may experience disturbed sleep, which might be mistaken for insomnia or other rapid-eye movement (REM) disorders. [read more]
Genetic disorders are genetic anomalies that are usually associated with diseases encoded in the genetic material of cells since the conception of a child. Some forms of these genetic disorders are a result of abnormalities due to errors in cell division, causing either a lack of an X or a Y chromosome, or an excess of one. Klinefelter's syndrome results from a male with 2 X chromosomes, and Down's syndrome results from having an extra chromosome 21. At the moment, some 4,000 genetic disorders have been discovered so far. This is a result of the most genetic disorders being rare, usually present in one in some thousand people. One of the more common genetic diseases is cystic fibrosis, with about 5% of the American population carrying a copy of the gene carrying the disease. [read more]
Genital herpes is a highly contagious (STD) sexually transmitted disease. [read more]
German measles, commonly known as rubella, is a disease caused by Rubella virus. [read more]
It is medically known as Rubella. German measles is not the same as measles. German measles is not the same with measles because they are caused by different viruses. It is not contagious nor it is severe that is why it is also called the three-day measles. [read more]
Giant platelet syndrome, also known as Bernard-Soulier disease, is a disorder found in newborn infants. In this condition the blood platelets fail to stick to the walls to the blood vessels, affecting the ability to clot properly. It can be a cause for abnormal bleeding. [read more]
Giardia infection is an intestinal infection characterized by stomach cramps, bloating, nausea and bouts of watery diarrhea. [read more]
Giardiasis is a condition wherein the flagellate protozoan Giardia lamblia resides in the digestive tract of both animals and humans. This condition also is the most common cause for gastroenteritis. [read more]
Gigantism is a condition wherein the human body grows excessively in height and weight during childhood, before the bone growth plates close, causing a person to live with overgrown bones. [read more]
Gingivostomatitis is a condition similar to cold sores. This form of herpes is common among children. [read more]
Gitelman syndrome is a rare autosomal-recessive disease characterized by a defective functioning in the kidneys' distal convoluted tubule. This defect causes prevents magnesium, sodium, potassium and chloride from being absorbed by the bloodstream and is instead is released into the urine. The disease is also a variant of the Bartter's syndrome. [read more]
Gittings or Gitelman Syndrome is an inherited defect in the distal convoluted tubule of the kidneys. [read more]
Glanzmann's thrombasthenia is a rare blood disease characterized by a decrease of the glycoprotein llb/lla in the platelets. This results in prolonged, sometimes severe bleeding. The condition is also characterized by a complete absence of platelet aggregation. [read more]
Glucagonoma is a tumor affecting the pancreas' alpha cells, causing extreme surplus production of the hormones insulin and glucagons. The malignant and fast-spreading nature of the disease affects these alpha cells, causing the overproduction of hormones. [read more]
Glucose-6-phosphate dehydrogenase deficiency is a hereditary recessive x-linked enzyme defect. The disease is presented by abnormally low levels of the enzyme glucose-6-phosphate dehydrogenase. The enzyme is metabolic and is particularly significant to red blood cell metabolism. It is also associated to favism, a disease resulting in a hemolytic reaction due to the ingestion of fava beans. [read more]
Glucose-galactose malabsorption is a rare disease affecting the intestine lining, preventing it from absorbing galactose and glucose, which are simple sugars or monosaccharide. This in turn disturbs the digestive processes of those monosaccharides. [read more]
Glutaryl-Coa dehydrogenase deficiency, also known as Glutaric aciduria type 1 or Glutaric aciduria, is a hereditary disease characterized by the body's disability to completely metabolize lysine, tryptophan, and hydroxysiline, which are amino acids. This results in byproducts of the breakdown, including glutaryl-CoA, glutaric acid, 3-hydroxyglutaric acid, and glutaconic acid, and the accumulation of these can harm the brain. [read more]
Gluten-sensitive enteropathy (also known as Coeliac disease), is an autoimmune disorder of the small intestine that occurs in genetically predisposed people of all ages from middle infancy. [read more]
Glycogen storage disease type 1B, also known as von Gierke's disease, is the most common form among the glycogen storage diseases. An enzyme glucose-6-phosphate deficiency is the cause of this, affecting the liver's ability in producing free glucose from gluconeogenesis and glycogen. This in turn, may result in hypoglycemia. [read more]
Glycogen storage disease type 7, also called Phosphorofructokinase deficiency or Tarui's disease, is a metabolic disease characterized by a deficiency in the phosphorofructokinase enzyme. This in turn disturbs the function of the cells, including rhabdomyocytes and erythrocytes, to utilize carbohydrates for energy. The disease is autosomal recessive in nature, and may affect mammals apart from humans. [read more]
Glycosuria otherwise known as glucosuria is an osmotic diuresis due to excretion of too much glucose by the kidneys. [read more]
Mixed gonadal dysgenesis is a condition of unusual and asymmetrical gonadal development leasing to an unassigned sex differentiation. Considering that the gonads in this medical condition may not be symmetrical, the development of the Mullerian and Wolffian duct may asymmetrical too (Donahoe PK, Crawford JD, Hendren WH Mixed gonadal dysgenesis, pathogenesis, and management. Pediatr Surg. 1979 Jun;14(3):287-300). [read more]
XY Female type Gonodal Dysgenesis otherwise known as the Swyer Syndrom is a type of female hypogonadism wherein there is no functional gonads present in the person to induce puberty unlike those of common normal girl. [read more]
Gonococcal conjunctivitis is a sexually-transmitted ocular disease. It is a very rare eye infection in adults and is most commonly seen in infants by mothers who are suffering gonorrhea. [read more]
Gorham's disease, also known as Massive Osteolysis, is a rare congenital bone disorder characterized by the spread of vascular channels that are destructive to the bone matrix. Osteolysis, or vanishing of the bones, occurs as well as angiomatosis. [read more]
Granuloma inguinale, also known as donovanosis, a bacterial illness characterized by genital ulcers that can be mistaken for syphilis. They can grow to endemic proportions and eat up genital tissues causing blood and mucus leakage. [read more]
A condition which is characterized as a common, benign growth that often appears as a rapidly growing, bleeding bump on the skin or inside the mouth, composing of blood vessels and may occur at the site of minor injury is called pyogenic granuloma. It is sometimes called a ?pregnancy tumor? (granuloma gravidarum) when it occurs in a pregnant woman. They develop in up to 5% of pregnant women. [read more]
Griscelli Disease, GS for brevity is an autosomal recessive disorder that results in the pigmentary dilution of the skin and the hair, the accumulation of the melanosome in melanocytes. It involves impairment of the lymphocyte function and the inability to produce normal levels of immunoglobulins (Griscelli C, Prunieras M. Pigment dilution and immunodeficiency: a new syndrome. Int J Dermatol. Dec 1978;17(10):788-91). [read more]
Grover's disease is a common skin disorder that is presented by itchy red spots on the trunk. It usually occurs in men over the age of forty. [read more]
Guanidinoacetate methyltransferase deficiency, otherwise known as GAMT Deficiency, is an autosomal recessive metabolic disorder. It is said to affect the nervous system and the muscles. Affected children lose previously acquired skills like head control and ability to sit unsupported if affected with the GAMT deficiency. [read more]
Also called as Gulf War Illness this is an illness reported by combat veterans of the 1991 Persian Gulf War typified by symptoms including immune system disorders and birth defects. It has not always been clear whether these symptoms were related to Gulf War service of the occurrence if illness in Gulf War veterans in higher than comparable populations. [read more]
Hageman factor deficiency is an uncommon hereditary disorder which is characterized by the low plasma protein known as factor XII. [read more]
Hand-Schuller-Christian disease is a condition which lipids accumulate in the body and manifest as histiocytic granuloma in bones, particularly in the skull, the skin and viscera and which is often accompanied by hepatosplenomegaly and lymphadenopathy. [read more]
Hanhart syndrome otherwise known as the Richner Syndrome, is an autosomal recessive disorder caused by deficiency in enzyme tyrosine amono transferase (E. Hanhart: ?ber die Kombination von Peromelia mit Mikrognathia, ein neues Syndrom beim Menschen, entsprechend der Akroteriasis congenita von Wriedt und Mohr beim Rinde. Archiv der Julius Klaus-Stiftung f?r Vererbungsforschung, Sozialanthropologie und Rassenhygiene, Z?rich, 1950, 25: 531-544). [read more]
Hantavirus pulmonary syndrome or HPS for brevity, is a deadly medical condition where the disease is transmitted by infected rodents through urine, droppings, or saliva. [read more]
Harpaxophobia is the morbid fear of being robbed (Corsini, R., 1999. The Dictionary of Pschology, p.435). [read more]
Cluster headache is a neurological disease characterized by extreme pain. The cyclical pattern of the pain, occurring in periods with spontaneous remissions, gives the disease its name. The ?clusters? of frequent attacks can last anywhere from a few weeks to months. During remission periods, the headaches completely stop, although patterns differ from person to person. Remission periods can occur from months to a year. The condition can afflict anyone although it is more common in men and adults aged 20-40 years old. Attacks are classified into episodic or chronic. Episodic attacks are characterized by a higher frequency with longer remissions. Chronic attacks are characterized by frequent headaches that can last up to years. [read more]
Cluster headache is a neurological disease characterized by extreme pain. The cyclical pattern of the pain, occurring in periods with spontaneous remissions, gives the disease its name. The ?clusters? of frequent attacks can last anywhere from a few weeks to months. During remission periods, the headaches completely stop, although patterns differ from person to person. Remission periods can occur from months to a year. The condition can afflict anyone although it is more common in men and adults aged 20-40 years old. Attacks are classified into episodic or chronic. Episodic attacks are characterized by a higher frequency with longer remissions. Chronic attacks are characterized by frequent headaches that can last up to years. [read more]
A thunderclap headache is a severe headache that occurs suddenly. Since it is sometimes a sign of a medical emergency, one should seek immediate medical attention for any headache that occurs suddenly and severely. [read more]
Hearing loss is a the decrease, whether full or partial, of the ability to detect or understand sounds (Speech and Language Terms and Abbreviations. Retrieved on 2006-12-02). [read more]
Heart situs anomaly otherwise known as Dextrocardia, is a condition where in the heart is located in the right side of the thorax whereby the apex is pointing to the right. It is characterized by the reversal of the normal position of the heart. [read more]
Heliophobia is the unfounded and irrational fear and avoidance of sunlight (Milbry, 1911. A Pocket Medical Dictionary). [read more]
Heller's syndrome or (childhood disintegrative disorder) is a condition in which young children develop normally until age 3 or 4, but then demonstrate a severe loss of social, communication and other skills. [read more]
HELLP syndrome is a fatal condition that occurs during later stages of pregnancy, and sometimes after labor. The abbreviation stands for Hemolytic anemia, Elevated Liver enzymes and Low Platelet count. [read more]
Hemangioendothelioma refers to a group of vascular neoplasms that may be either benign or malignant. Around 10% of cases are associated with other syndromes including lymphedema, early onset varicose veins, Mafucci's syndrome, and Klippel-Trenauay-Weber syndrome. There are 3 types of hemangioendotheliomas: retiform, epitheloid, and kaposiform. [read more]
Hemimegalencephaly otherwise known as unilateral megancephaly is a medical condition that is characterized by the enlargement or abnormal growth of one-half of the brain. [read more]
Hemiplegia is a medical condition where there is paralysis of the other half of the patient's body. This is in contrast to hemiparesis where the other half of the body is just merely weakened but not paralyzed. [read more]
Hemochromatosis is a hereditary disease characterized by excessive absorption of dietary iron resulting in a pathologic increase on total body iron stores. Human, like virtually all animals, have no means to excrete excess iron. Excess iron accumulates in tissues and organs disrupting their normal function. [read more]
Hemoglobinopathy is a type of genetic defect that results from abnormal and not well defined structure of the globin chains of the hemoglobin molecule in the body. It usually includes sickle Disease and Thalassemia. [read more]
Hemolytic-uremic syndrome (HUS), is an illness characterized by acute renal failure, low platelet count, and microangiopathic hemolytic anemia. [read more]
Hemolytic-uremic syndrome (HUS) is a condition affecting infants and children, characterized by low platelet count (thrombocytopenia), acute renal failure, and microangiopathic hemolytic anemia. [read more]
Hendra virus is a strain of virus under the Paramyxoviridae family. It was first described in 1994 during an outbreak of neurological and respiratory disease in humans and horses in the Hendra suburb of Brisbane, Australia. [read more]
Heparin-induced thrombocytopenia (HIT) is a condition wherein doses of heparin causes low platelet count (thrombocytopenia). The condition is a thrombotic disorder where there are high concentrations of thrombosis in the arteries. HIT usually occurs 4-14 days after the heparin administration. Heparin is administered during cardiovascular surgery. [read more]
Hepatitis (plural hepatitides) implies injury to liver marked by presence of inflammatory cells in the liver tissue. Drug-induced hepatitis (also called toxic hepatitis) appears in eight in every 10,000 people because the liver reacts abnormally during drug exposure, leading to liver damage. This pathology results to the the liver not being able to function properly and the symptoms can begin to be seen. [read more]
Hepatocellular carcinoma is a primary malignancy of the liver. Most cases of HCC are secondary to either a viral hepatitide infection or cirrhosis. In countries where hepatitis is not endemic, most of the malignant cancers in the liver are not primary HCC but metastasis of cancer from elsewhere in the body, like the colon. Treatment options of HCC and prognosis depend on many factors but especially on tumor size and staging. [read more]
Angioedema, also known as Quincke's edema, is the rapid swelling (or edema) of the skin, mucosa and submucosal tissues. Aside from the common form, mediated by allergy, it has been reported as a side effect of some medications, specifically ACE inhibitors. [read more]
Hereditary ceroid lipofuscinosis (also known as Batten Disease or NCL) is a fatal, inherited disorder of the nervous system that starts in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, clumsiness, slow learning, or stumbling. [read more]
Hereditary fructose intolerance (HFI) or fructose poisoning is a hereditary condition that results from a deficiency of liver enzymes that metabolise fructose. This is also known as hereditary fructosemia, or fructose in the blood. [read more]
Hereditary hemorrhagic telangiectasia (HHT) is a disorder that leads to the development of multiple abnormalities in the blood vessels. [read more]
Hereditary pancreatitis is a genetic disease affecting the production of enzymes in the pancreas. In the pancreas, a genetic mutation causes the enzyme cationin trypsinogen to be made in a way which leaves it resistant to inactivation through autolysis. Normally this autolysis mechanism prevents trypsinogen from being activated inside the pancreas. However, when the abnormal trypsinogen is activated, it results to a chain reaction where all the trypsinogen in the pancreas is activated, effectively digesting the pancreas from the inside. [read more]
Hermansky-Pudlak Syndrome (HPS) is an inherited disease which leads to oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin). [read more]
Umbilical hernia is a congenital malformation, particularly common in infants of African descent, and more frequent in boys. [read more]
The bones (vertebrae) that form the spine in your back are cushioned by small, spongy discs. These discs are healthy, they act as shock absorbers for the spine and maintain the spine flexible. [read more]
Infection of the genitals is commonly known as herpes and predominantly occurs following sexual transmission of the type 2 strain of the virus (HSV-2). Oral herpes, colloquially called cold sores, is commonly caused by the type 1 strain of herpes simplex virus (HSV-1). [read more]
Herpes gestationis is a medical condition used to describe polymorphic vesicobullous eruption during pregnancy. [read more]
Herpes simplex is commonly known as as cold sores. It is a viral infection of the skin that arises once or return again and again. This is because when the virus is cleared from the skin by the immune system it hides in the nerves and is never wholly removed from the body. Herpes infections are very prevalent. Unfortunately those who carry the herpes virus can spread the disease without even knowing it. [read more]
Herpes simplex encephalitis (HSE) is a very serious disorder and one of the most severe viral infections affecting the human central nervous system. [read more]
Leading to the development of small and usually painful blisters on the skin of the mouth, lips, gums or lip area, herpes labialis is an infection caused by the herpes simples. The blisters are commonly called fever blisters or cold sores. [read more]
Herpes zoster (or zoster), commonly known as shingles, is a viral disease marked by a painful skin rash with blisters in a limited area on one side of the body. [read more]
Herpes simplex virus (HSV) keratitis includes a wide variety of disease processes that HSV can cause in the human cornea. A variety of clinical manifestations of infectious and immunologic etiologies, such as neurotrophic keratopathy, infectious epithelial keratitis, necrotizing stromal keratitis, immune stromal keratitis (ISK), and endotheliitis, can affect all levels of the cornea. Although more common as a manifestation of recurrent HSV infection, HSV keratitis may also be detected during a primary infection. [read more]
Hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome is a very rare inborn error of metabolism; the age at presentation and long-term prognosis vary widely among affected individuals. Growth and developmental delays, periodic confusion and ataxia, and learning disabilities (especially speech delay), are typical presenting symptoms. In this syndrome, a defect in the transport of ornithine into the mitochondrial matrix significantly hinders the urea cycle, thereby impeding nitrogen disposal. [read more]
A hiccup (hiccough) is a spasmodic contraction of the diaphragm that typically repeats several times per minute. In medicine, it is referred to as synchronous diaphramatic flutter (SDF). [read more]
High altitude cerebral edema, also known as ?altitude sickness of mountaineers?, is a medical condition experienced when traveling to high altitudes. Because of the lack of oxygen in high elevations, some people experience hypoxia, extreme headache and weakness. [read more]
Hip dysplasia is a hereditary disease that, in its more severe form, can eventually lead to crippling lameness and painful arthritis of the joints. [read more]
Eosinophilic granuloma, also known as pulmonary histiocytosis X (PHX) or pulmonary Langerhans cell histiocytosis X (PLCH), is a rare interstitial lung disease that is epidemiologically related to tobacco smoking. It predominantly affects young adults, primarily occurring in the third or fourth decades of life. [read more]
In Hodgkin's disease, cells in the lymphatic system develop abnormally and may spread beyond the lymphatic system. As Hodgkin's disease progresses, it compromises the body's ability to fight different infections. [read more]
Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to utilize the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, a group of disorders marked by impaired activity of certain enzymes that depend on biotin. [read more]
Horn Kolb syndrome, also known as acheiropodia, is an autosomal recessive disease that results in hemimelia, a lack of formation of the distal extremities. This is a congenital defect which is made up of bilateral amputations of the distal upper and lower extremities, as well as aplasia of the hands and feet. It is almost endemic to Brazil. [read more]
Horseshoe kidney (also called renal fusion) is a congenital disorder, affecting about 1 in 400 people, in which a person's two kidneys fuse together to form a horseshoe-shape during development in the womb. [read more]
HPV infection is a condition contracted from one of a group of more than 100 related human papillomaviruses (or HPVs). [read more]
HSV1 (HHV1) and HSV2 (HHV2) are neurotrophic alpha-herpesviruses that occur naturally only in humans. [read more]
HPV infection is a condition contracted from one of a group of more than 100 related human papillomaviruses (or HPVs). [read more]
Human Parvovirus B19, a species of parvovirus that infects humans, is linked with the development of several different autoimmune diseases including dematomyositis, mixed connective tissue diseases, a lupus-like illness, a serologically negative (negative RA factor test) form of arthritis, granuloma annulare, autoimmune thyroid disease, autoimmune schizophrenia, and various forms of vasculitis, including Henoch Schonlein purpura, Kawasaki disease, Wegener's granulomatosis, and polyarteritis nodosa. The development of autoimmune conditions following Human Parvovirus B19 arises in people of all ages and occurs more frequently in females. Autoimmune disease development is also known to appear in adults exposed to children with fifth disease [read more]
Hunt's syndrome is a rare form of progressive cerebellar dyssynergia mainly marked by intention tremor and often associated with convulsions and myoclonic epileptic jerks. [read more]
Hunter syndrome is an inherited metabolic disorder that arises when an enzyme the body needs to break down molecules called glycosaminoglycans, or mucopolysaccharides, is either missing or malfunctioning. [read more]
Huntington's disease (HD), known as Huntington's chorea and chorea maior, is a rare genetic neurological disorder inherited by an estimated one person per 10,000 people of Western European descent, varying geographically, down to one per 1,000,000 of Asian and African descent. [read more]
Hurler syndrome, also called mucopolysaccharidosis type I (MPS I), Hurler's disease and gargoylism, is a genetic disorder that results in the deficiency of alpha-L iduronidase, which is an enzyme that breaks down mucopolysaccharides in the lysosomes. In the absence of this enzyme, a buildup of heparan sulfate and dermatan sulfate occurs in the body. Symptoms appear during childhood and early death can take place due to organ damage. [read more]
A hydatidiform mole (or hydatid mole, mola hytadidosa) is an anomalous growth containing a nonviable embryo which implants and proliferates within the uterus. [read more]
Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are missing and replaced by sacs filled with cerebrospinal fluid. [read more]
Hymenolepiasis is infestation by one of two species of tapeworm: Hymenolepis nana and Hymenolepis diminuta. [read more]
Hyperandrogenism is an endocrine disorder that occurs in women, affecting roughly 10% of the female population. Occurring among all races and nationalities, this hormonal defect is known as the leading cause of infertility worldwide. The more popular form of this hormonal disorder is Hyperandrogenic Chronic Anovulation, more commonly known as Polycystic Ovary Syndrome (PCOS). [read more]
Hyperbilirubinemia is characterized by an excess of bilirubin in the blood. Bilirubin is a substance that forms when red blood cells break down. In infants, the bilirubin can accumulate in the blood and surrounding tissues, filling the baby's body with fluids. The result is a condition called hyperbilirubinemia. The excess bilirubin causes pigmentation or yellowing of the infant's skin and tissues, a condition known as jaundice. [read more]
Hyperglycemic hyperosmolar nonketotic syndrome or HHNS is a condition where the blood sugar is released through frequent urination. Too much urination leads to dehydration, if one does not drink sufficient fluids. Dehydration may lead to seizures and eventually, death. [read more]
Hyperhomocysteinemia is a condition wherein there's an excessive level of homocysteine in the blood. It's often linked with cobalamin or folate deficiency, and genetic defects. Homocysteine is a molecule in the body that's naturally occurring, and is needed in many reactions that happen within body cells. These reactions result to methionine and cysteine formation; if passageways to methionine and cysteine are blocked, then the levels of homocysteine rise. [read more]
Hyperprolinemia is a disorder resulting from excessive protein-building block (known as proline) in the patient's blood. This inherited condition has two types, namely Type I and Type II. [read more]
High blood pressure or more popularly referred to as hypertension means high pressure in the arteries or the vessels that carries blooding from the heart to other parts of the body. The normal blood pressure of a human being is typically below 120/80 and people who reaxch 140/90 are most likely suffering form hypertension. [read more]
Hypoadrenalism is a condition whereaby the adrenal glands are underactive, with suppressed ability to produce a range of hormones. The adrenal glands, located above each kidney, are responsible for hormone production. The inactivity of these glands is called hypoadrenalism. [read more]
Hypochondrogenesis is a disease characterized by bone growth malformations. Though it is severe, Hypochondrogenesis is considered milder than achondrogenesis type 2 which is another skeletal disorder. [read more]
Hypogonadism is a condition characterized by a lack of function of the gonads as a result of a defect of the reproductive system. The gonads produces hormones and also plays a role in producing eggs and sperm. Infertility results from defective sperm and egg development. Hypogonadism is often used to describe a permanent defect of the reproductive system. [read more]
Hypohidrotic ectodermal dysplasia is a condition characterized by abnormal development of structures such as skin, teeth, hair, nails and sweat glands. It is among the 150 types of ectodermal dysplasia. Hypohidrotic ectodermal dysplasia is the most common form of ectodermal dysplasia in humans. It is estimated to affect at least 1 in 17,000 people worldwide [read more]
Hypophosphatasia is a rare inherited metabolic disease of decreased tissue nonspecific alkaline phosphatase (TNSALP) and defective bone mineralization. Both autosomal recessive and autosomal dominant varieties of the disease exist. The disease comes in one to five forms, perinatal, infantile, childhood, adult, and odontohypophosphatasia. [read more]
Hypoplastic left heart syndrome, HLHS for short, is a condition characterized by severe malformation and underdevelopment of the left part of the heart. Individuals with HLHS experiences poor blood circulation since the right side of the heart compensates for the inefficiency of the left side. If left untreated, HLHS may lead to dangerously low blood circulation, shock and even death. HLHS is a rare condition that affects only 2 in every 100,000 live births. [read more]
In physiology and medicine, hypotension pertains to an abnormal low blood pressure. This is studied as a physiologic state, rather than a disease. It is often associated with shock, but not necessarily indicative of it. Hypotension is the opposite of hypertension that is high blood pressure. Hypotension could be life-threatening. [read more]
Hypothermia is a condition wherein the temperature of an organism drops below the level required for proper metabolism and bodily functions. The core body temperature of warm-blooded animals like humans are always maintained near a constant level. Hypothermia occurs when the body is subjected to very cold conditions that leads to inability of the body to replenish the heat lost. [read more]
Hypothyroidism is a condition characterized by insufficient production of the thyroid hormone by the thyroid gland. [read more]
Hypotrichosis is a condition characterized by having a less than normal amount of hair on the head or body. Hypotrichosis is often confused with alopecia, or hair loss. In hypotrichosis as opposes to alopecia, there was never any hair in the first place. In hypotrichosis, the affected area is bald and remains bald for the rest of the life of the patient. There are three types of hypotrichosis, these are: 1.aplasia cutis congenita, a developmental disorder of unknown origin; 2.triangular alopecia, similar condition to aplasia cutis congenita but is distinguished by the identifying triangular patch in the head; 3.congenital atrichia, a congenital disorder where sometimes an individuals is born with a healthy head of hair but loses it at some point in his or her life. [read more]
ICF Syndrome is a condition characterized by a weak immune system and anomalies in the face. ICF Syndrome is an inherited condition. The main feature of ICF Syndrome is variable immunodeficiency combined with centrometric instability of chromosome 1, 9, 16 and even 2. ICF syndrome is a rare condition that affects less than 200,000 people in the United States. [read more]
Ichthyosis vulgaris is a skin condition characterized by dry and scaly skin. It is the most common form of a general skin condition known as ichthyosis as it affects 1 in 250 people. This is why it is also sometimes called common ichthyosis. [read more]
Adolescent Idiopathic Scoliosis (AIS) is a condition characterized by a side curvature of the spine, either to the left or to the right. AIS can occur in individuals from 10 years of age until maturity. It is called idiopathic because the cause of the curvature is still unknown. Genes are suspected for playing a big part in this condition. [read more]
Idiopathic pulmonary haemosiderosis is a rare, sporadic, fatal, mostly in children with an equal sex distribution. The condition also arises in adults where there is a sex difference (M:F = 2:1). The patients present with recurrent attacks of pulmonary haemorrhage, acute phase: bat-wing alveolar infiltrates, clears rapidly, chronic findings: haemosiderosis, cor pulmonale, pulmonary fibrosis, . [read more]
One of the most prevalent immune deficiency disorders, IgA deficiency is defined as low blood serum levels of a special type of protein called immunoglobulin A (IgA). This deficiency hinders function of the immune system. People with this deficiency lack immunoglobulin A (IgA), a type of antibody that protects against infections of the mucous membranes that line the mouth, airways, and digestive tract. It is described as an undetectable serum IgA level in the presence of normal serum levels of IgG and IgM. [read more]
An imperforate anus or anal atresia is a congenital defect in which the rectum is malformed. [read more]
Inclusion conjunctivitis is an inflammation of the conjunctiva (the membrane that lines the eyelids and covers the white part, or sclera, of the eyeball) by the chlamydia trachomatis. [read more]
Infant respiratory distress syndrome ("RDS", also known as "Respiratory distress syndrome of newborn", previously called hyaline membrane disease), is a syndrome caused in premature infants by developmental insufficiency of surfactant production and structural immaturity in the lungs. It can also arise from a genetic problem with the production of surfactant associated proteins. RDS affects around 1% of newborn infants and is the leading cause of death in preterm infants. [read more]
Spinal Muscular Atrophy (SMA) is a term used to describe a number of different disorders, all having in common a genetic cause and the manifestation of weakness due to loss of the motor neurons of the spinal cord and brainstem. [read more]
Influenza, more commonly known as "the flu," is an illness caused by viruses that infect the respiratory tract. Compared with most other viral respiratory infections, such as the common cold, influenza infection often leads to a more severe illness with a mortality rate (death rate) of about 0.1% of people who are infected with the virus. [read more]
An insulinoma is a tumour of the pancreas derived from the beta cells which while keeping the ability to synthesize and secrete insulin is autonomous of the normal feedback mechanisms. [read more]
Lobular carcinoma in situ (LCIS) is not a cancer, but its presence means that there is a small increase in the risk of developing breast cancer later on in life. Even so, majority of women with LCIS do not develop breast cancer. [read more]
Arrhythmia, also known as an irregular heartbeat, is a condition where the heart beats either lower or faster than the normal heart beat of 50 to 100 beats per minute. Arrhythmias can occur even to those people with regular heart rate. [read more]
Jacobsen syndrome is a medical condition categorized as a very rare chromosomal disorder with the absence of chromosome 11q. It can be the cause of mild mental retardation, a characteristic facial appearance, and many medical problems like heart ailments and bleeding disorders. Generally, it affects numerous phases of mental and physical advancement. [read more]
Jervell and Lange-Nielsen syndrome is a rare medical condition; a type of Long QT syndrome. The disorder causes the muscles of the heart takes longer than average to recharge after every heartbeat. Once left untreated, the irregular heartbeats can lead to fainting and seizure attacks. Worse scenario would be sudden death. It is an autosomal recessive disorder that may cause loss of hearing (deafness). [read more]
It was in the year 1966 that the Job syndrome was first described as the hyper-IgE/HIE or hyperimmunoglobulin E syndrome which is a very rare immunodeficiency disease. This disorder can be inherited in an autosomal dominant pattern. HIE has changing expressivity and is linked with several other abnormalities. The general findings are recurring abscesses of the skin (this is why it is called the Job syndrome, derived from the biblical character Job); high IgE serum levels; pneumonia which comes with pneumatocele development; and dental, facial or skeletal defects. Most cases of this disorder are sporadic but there are cases of multiplex families who display autosomal recessive and autosomal dominant inheritance. Autosomal recessive individuals usually have acute molluscum contagiosm. Also, it is possible for neurological complications to develop because of other viral infections. The patients also lack dental or skeletal involvement and they do not develop cysts of the lungs. A few authorities have the belief that 2 separate syndromes are in existence, not just one. [read more]
Joseph disease, also known in names such as the Machado-Joseph disease and spinocerebral ataxia type 3, is a rare disorder characterized by lack of muscle control. [read more]
Joubert syndrome is a genetic disorder that is very rare. This disorder affects the brain areas which control coordination and balance. It was first identified by a pediatric neurologist named Marie Joubert from Montreal in Canada. The physician was then working with McGill Neurological Institute. [read more]
A part of every human's instinct of survival includes sudden reaction to unexpected stimulus. Often, the reaction is a startle which is a reflexive movement to get away from the stimulus. This reaction also causes change of blood pressure and respiration. Among normal people, this could only last for seconds but for those who suffer from Jumping Frenchmen of Maine disorder, the result could be very interesting (and in some cases, shocking). Jumping Frenchmen of Maine is a very rare disease which was originally described in 1878 by a certain George Miller Beard. [read more]
Juvenile dermatomyositis or JDM is an autoimmune disorder which causes vasculitis manifesting itself among children; and it is a pediatric equivalent of dermatomyositis. JDM manifests vasculitis an inflammation which is caused by the attack of the body's immune system to the blood vessels. In the US, the rate of occurrence of JDM is estimated to be 3 in every 1,000,000 children annually. This is about 300 to 500 fresh cases every year or about 3,000 to 5,000 children. Other types of juvenile myositis include juvenile inclusion-body myositis (JIBM) and juvenile polymyositis (JPM). These two other types are very rare and are not that as common among children. The underlying cause of Juvenile dermatomyositis is still unknown. It is most probable that it has a genetic component such as other autoimmune diseases (inherited within the family). The most common triggering factors include infections, immunizations, sunburn and injuries. [read more]
Juvenile myoclonic epilepsy or JME is also called the Janz syndrome. This is a common type of idiopathic generalized epilepsy which represents 5-10% of all the types of epilepsies. This disease manifests primarily between the 12th-18th month and with myoclonus showing very early during the morning. Most of the patients also manifest absence and tonic-clonic seizures. Studies have shown at least six loci for JME of which 4 have specific causative genes. Most of the genes are ion channels together with the sole non-ion channel gene after manifesting effects on currents of ion channel. [read more]
JRA or Juvenile rheumatoid arthritis is not just a single illness. It is, in fact, a group of illnesses of unidentified etiology. The manifestation is a chronic inflammation of the joint. Treatment advances in the last thirty years have altered the prognosis for the more acute types of this disease. The first treatment is limited with only the use of salicylates and other non-steroidal anti-inflammatory drugs or NSAIDs. The initial treatment resulted into numerous patients being bound to their wheelchairs. Some patients tried synovectomies to get rid of tissue excesses which result from uncontrolled arthritis. The second-line medicines that were added have improved the prognosis for those who suffered from JRA. It started with gold salt injection and gradually replaced by MTX or methotrexate which is a more effective solution. These drugs are administered with team approach background in centers of pediatric rheumatology. In there, occupational and physical therapies have allowed much improved physical functions. The introduction of etanercept (which is a biologic enemy of tumor necrosis factor or TNF) has introduced a new era in treatments. A few more biologic agents such as the anakinra (which is an IL-1 or interleukin-1 receptor opponent) could be used in some patients who are not responsive to second-line medication. The future holds an inhibition of IL-6 which could be effective in systemic sufferers with JRA with high levels. [read more]
Kabuki syndrome also called as Kabuki makeup syndrome (KMS) or Niikawa Kuroki syndrome in the past, is a rare pediatric inborn disease. This congenital disorder has no known cause and comes with numerous inborn anomalies and retardation of mental development. It was discovered by Niikawa and Kuroki who were Japanese scientists. It was named Kabuki syndrome because the individuals who are affected by this illness look like Kabuki dolls or Kabuki performers who are wearing white makeup. The name term Niikawa-Kuroki syndrome, obviously, relates to the two scientists who made the discovery of the illness. [read more]
Kallman syndrome, by itself, is a type of hypogonadism (which is a decrease in the function of the sex glands that produce hormones). This is caused by a lack of GnRH hormone (the one that releases gonadotropin). The term Spastic paraplegia with Kallman syndrome has not been discussed in the previous years. This is a very rare genetic disease which is characterized chiefly by lower leg weakness and mild spasticity. Other signs include lack of production of the sex hormones and also the inability to smell odors. [read more]
Kaolin is processed by, first, removing it from seams that are underground in an area of mining. The process involves slicing, drying, and pulverizing to make a finished product. A study was done to know the concentration of kaolin dust in different areas of work. The study was also set up to be able to assess the occurrence of pulmonary and radiographic function defects among workers. There were 65 subjects from the Georgia kaolin mines. It was noted that the respirable concentrations of kaolin dust were at their peak in the areas where the product was being processed as compared to the mine or areas of maintenance. The study ran through 1977 until 1981. The kaolin dust level that is was respirable in the processing are in the year 1981 was at 1.74 milligrams/m3 and 0.14 milligrams/m3 in the area of mining. 5 of the workers from the processing area had evidences, confirmed by radiography, of kaolin pneumoconiosis. The FVC or the forced vital capacity and FEV1 mean values for the entire group were observed to be in the normal range. When the spirometric quantities were stated as a percentage or portion of the values that were predicted, the FEV1 and FVC were noticeably lower among workers with kaolinosis than among workers from within the processing area. Both the FEV1 and the FVC have declined considerably as the years progress and the worker remains working in the processing area. The FEV1/FVC%, on the other hand, was not changed significantly by either the kaolinosis presence or by the increase in work years. This indicates that the defect was confined and thus very likely to be a result of inhalation of the kaolin dust as compared to smoking. [read more]
Keloids are type of scars characterized by significant marks of skin elevation; it is an overgrowth of tissue on the exact location of the healed skin injury. Keloids usually occur after an injury or surgery. Keloids are usually firm, fibrous lesions. Keloids are non-contagious and non-malignant at the same time. Not like scars, keloids do not sink in size. Keloids often form on the back, chest, earlobes, and shoulder. The face is not primarily at a risk of developing keloids. [read more]
Keratoacanthoma is a fairly common, epithelial tumor. Formerly, it was regarded as variant of Squamous Cell Carcinoma; a form of malignant cancer that occur in many different organs of the body including the skin, lips, esophagus, and mouth among other else. It is a disease common in the elderly. Keratoacanthoma usually disappears by itself within a period of time; it is non-contagious. [read more]
Kikuchi Disease is a rare lymph node disorder causing large and inflamed lymph nodes. It is not cancerous. It is also known as histiocytic necrotizing lymphadenitis; which was first identified in 1972 by Dr. M.Kikuchi in Japan. [read more]
Klinefelter's syndrome is a rare chromosomal genetic syndrome characterized by having XXY chromosomes instead of XX or XY chromosomes. Sufferers of this syndrome are usually males because of the presence of Y chromosomes. This syndrome is considered as the second most common extra chromosome condition. Usually called with other names as XXY or XXY syndrome, this condition was first described in 1942 by Dr. Edward Klinefelter, an endocrinologist at Massachusetts General Hospital in Boston, Massachusetts. [read more]
Klippel-Feil Syndrome is a rare medical condition described as the congenital fusion of any two (2) of the seven (7) vertebrae located in the neck. This rare disorder was first accounted by Maurice Klippel and Andre Feil from France in the year 1912. [read more]
Kniest Dysplasia is a rare genetic bone growth disorder; it is an uncommon kind of inherited disorder. It is a subtype of Type II and XI collagenopathies, which are described as group of disorders that affect the tissue supporting the body's joints and organs. This disorder is usually exemplified by dwarfism, skeletal anomalies, enlarged joints, as well as vision and hearing deficiencies. [read more]
Kohler Disease is a rare bone disorder taking place on the foot usually occurring in children aging from six to nine years old. A German radiologist named Alban Kohler was the first to describe this disease in 1908. Kohler disease usually affects boys, but girls can also develop this kind of disease. [read more]
Korsakoff's syndrome is a degenerative disease of the brain, which is caused by deficit amounts of thiamine (Vitamin B1) present in the brain. The syndrome's name was derived from the name of the neuropsychiatrist who made this theory popular, Sergei Korsakoff. This disease is also known as Korsakoff's psychosis and amnesic confabulatory syndrome. [read more]
Kostmann Syndrome is a rare disease usually distinguished and identified soon after birth. This is an uncommon inherited type of Severe Chronic Neutropenia; which is a blood disorder marked by abnormally low number of neutrophil granulocytes. Neutrophils (a type of white blood cells) are essential for fighting infection. Kostmann syndrome was formerly presented and defined as an autosomal-recessive disorder, marked by early phase maturation arrest of myelopoiesis. Kostmann Syndrome was named after Dr. Kostmann, a Swedish doctor who first discovered the disease in 1956. [read more]
Lactose intolerance, also called lactase deficiency, means the person isn't able to fully digest the milk sugar (lactose) in dairy products. It's not usually dangerous, but symptoms of lactose intolerance can be uncomfortable enough to steer the person clear of the dairy aisles. [read more]
Mastitis is an infection of the breast tissue that leads to pain, swelling and redness of the breast. Mastitis most frequently affects women who are breast-feeding, although in rare circumstances this condition can occur outside of lactation [read more]
Lamellar Ichthyosis is a rare inherited skin disorder. An infant born with this disorder is covered with a translucent membrane; after the membrane is cast off, it will reveal different sizes of red scaly skin patches. [read more]
Langer-Giedion syndrome is a very rare genetic disorder that occurs when a chrosomal material is deleted. This syndrome is also known as trichorhinophalangeal syndrome or LGCR (for Langer-Giedion Chromosome Region). This medical condition is named after the two doctors dig into research about this condition during the 1960s. [read more]
Langerhans cell histiocytosis is a medical condition characterized with the increased production of Langerhans cell. Langerhans cell are abnormal cells originating from the bone marrow and have the capability to drift from the skin to the lymph nodes. Langerhans cell histiocytosis was formerly referred to as histiocytosis X. The Histiocyte society renamed the disease in 1985. [read more]
Laron-type dwarfism also known as Laron syndrome, is a autosomal recessive disorder; where the body has adequate amounts of growth hormones but is deficient with receptors needed to develop the growth hormones resulting to excessively short stature or dwarfism. Laron-type dwarfism is named after the Israeli researcher Zvi Laron, who reported the medical condition in 1966 after a longstanding observation that started in 1958. [read more]
Larsen syndrome is a rare autosomal dominant genetic disease. It is a rare connective tissue disorder. This medical condition is very rare with the incidence occurring only 1 in every 100,000 people. Larsen syndrome was named after L.J. Larsen, who was responsible for writing about the condition in an article for the first time during the year 1952. [read more]
Laryngocele is a rare medical condition where an air-filled sac connected with the larynx becomes enlarged. It can be of congenital nature. It can also be acquired. Players of wind instruments are probable victims of this rare disorder because of continuous strong expiration, which gives weighty pressure in the larynx, which later on leads to laryngeal ventricle dilatation. There external and internal type of Laryngocele and there is also a combination of both. [read more]
Lassa fever is an acute viral hemorrhagic fever named after the town in Lassa, Nigeria. The disease was first described in 1969 and is widespread in West African nations. [read more]
Lead poisoning is a result of exposure to lead in the environment. Even thou lead is no longer used in paints, gasoline, water pipes and other products, some lead-based products still exist and may pose a health hazard. [read more]
Lecithin cholesterol acyltransferase deficiency is a kind of protein disorder affecting lipoprotein metabolism. It is the cause of cholesterol esters in the body. Lecithin cholesterol acyltransferase deficiency is found in two forms, the complete LCAT deficiency and the fish eye disease, wherein there is only a partial deficiency. [read more]
Legionellosis is a contagious disease that causes respiratory illnesses such as pneumonia and pontiac fever. It was first described in 1976 when an outbreak occurred in a convention in Philadelphia, U.S.A. An average of 8,000 to 18,000 people in the Unites States acquire the disease each year. [read more]
Legionnaires' disease is an infectious disease caused by bacteria belonging to the genus Legionella. Over 90% of legionellosis cases are caused by Legionella pneumophila, a ubiquitous aquatic organism that thrives in warm environments (25 to 45 ?C with an optimum around 35 ?C). [read more]
Lemierre's syndrome is a rare bacterial disease that usually targets young adults. It brings about an inflammation of the internal jugular vein. A blood clot also develops in the said area during the onset of the disease. It was first described by Andre Lemierre in 1936, and the disease has produced about 160 cases for the past 100 years. [read more]
Leprechaunism is a rare medical disorder that exhibits elf-like features on an affected individual. Also called the Donohue syndrome, persons who suffer from Leprechaunism display distorted facial attributes such as protruberant ears, flaring nostrils and thick lips. Other physical features show enlarged reproductive organs and stunted growth. [read more]
Leprosy is a chronic contagious skin disease that attack the peripheral nerves and mucosa of the respiratory tract. It also develops skin lesions in various parts of the body. When left untreated, the disease may cause irreverisible damages to the eyes, nerves and skin. [read more]
Leptospirosis is a bacterial disease that results to the enlargement of the spleen, nephritis and jaundice. [read more]
The Lesch-Nyhan syndrome is a rare hereditary disorder which is transmitted by the mother to her male offspring. Patients with the disease suffer from sever mental and physical disabilities as well as self-mutilating behaviors all throughout life. [read more]
Chronic T-Cell Leukemia, also referred to as T-cell-prolymphocytic leukemia (T-PLL), is a post-thymic T-cell malignancy primarily inflicting adults aged 30 and above. This is a severe form of T-cell leukemia with aggressive behavior, predilection for blood, bone marrow, lymph nodes, liver, spleen, and skin involvement. Chronic T-Cell Leukemia is a rare disease with distinct clinical features following an aggressive clinical course. Within the post-thymic T-cell dysfunctions that develop as a result of leukemia, T-PLL is seen in about a third of documented cases. [read more]
Leukocyte-adhesion deficiency syndrome is an autosomal recessive disorder that causes recurrent infections in the different parts of the body. It has two distinct genotypes known as type I and type II. Type II is known to create fewer infections but greater delay in developmental. [read more]
Liddle syndrome is an autosomal dominant genetic disorder that causes problems with potassium deficiency and sodium resorption from the renal tubule. Hypertension tends to develop at infant stages because of this disease. [read more]
Literally meaning ?smooth brain?, lissencephaly is a rare brain abnormality characterized by a lack of normal convolutions (or folds) in the brain. In lissencephaly syndrome type 1, the cerebral cortex is not normally developed, and the gyri are malformed. [read more]
Listeria infection, also referred to as listeriosis, is a relatively rare bacterial infection that results from Listeria monocytogenes, a type of gram-positive motile bacterium. Listeria infection commonly affects newborn infants, elderly patients, and individuals with immuno deficiencies. [read more]
Kidney stones (also called renal lithiasis) are small, hard deposits of mineral and acid salts on the inner surfaces of the kidneys. [read more]
Loeys-Dietz syndrome is an autosomal dominant disorder similar to the Marfan syndrome. It was first discovered by Harry Dietz and Bart Loeys. [read more]
Long QT syndrome type 1 is the most common type of Long QT syndrome, wherein the LQT1 gene is isolated from the chromosome 11p15.5. This mutation can be an autosomal dominant as well as recessive disroder which may lead to consistent synopses as well as sudden death. [read more]
Long QT syndrome type 3 deals with the alpha subunit of the gene that encodes Na+ ion channel, located at chromosome 1p21-24. These mutations can lead to Brugada syndrome, dilated cardiomyopathy and Cardiac Conduction disease. [read more]
Lou Gehrig's Disease, also called Amyotrophic Lateral Sclerosis or ALS, is a progressive and often fatal neurodegenerative disorder characterized by motor neuron degeneration. Motor neurons are nerve cells in the central nervous system that are primarily responsible for voluntary muscle movement. When these neurons degenerate, the resulting disease is known as Lou Gehrig's. [read more]
Louis-Bar syndrome, also referred to as Ataxia-telangiectasia (AT) or Boder-Sedgwick syndrome, is an immunodeficiency disorder associated with a defect in T-cells. It occurs in approximately 1 in 40,000 to 1 in 300,000 births. [read more]
LSA or lichen sclerosus et atrophicus is a disease with no known pathogenesis that severely impacts the afflicted patient's quality of life. Approximately 14 individuals per 100,000 people are affected by LSA per year. Females have a predilection for the disease. Fifteen percent of cases involved patients 10 to 30 years old. [read more]
L?es Cong?nita, more popularly known as Syphilis, is a sexually transmitted disease caused by a gram-negative bacterium called Treponema pallidum spirochete. Syphilis may not necessarily be contracted through sexual contact. Cases have been documented wherein the infection is passed from mother to offspring in the utero. [read more]
Lutz-Lewandowsky epidermodysplasia verruciformis, more commonly known simply as epidermodysplasia verruciformis, is a rare lifelong skin condition wherein scaly macules and papules abnormally form on the hands and feet. This disease initially develops in childhood and last throughout adulthood. [read more]
Lyell's Syndrome, also referred to as Toxic Epidermal Necrolysis (TEN), is a potentially fatal dermatological disorder typically resulting from an adverse reaction to medications. This condition is life-threatening, characterized by the detachment of the epidermis (the top layer of the skin) from the dermis (the lower layers of the skin) in the entire body. [read more]
Lygophobia is an irrational fear of the dark, common among children but also observed in adults in varying degrees. Lygophobia is from the word ?lyge?, meaning twilight, and ?phobia?, meaning fear. Other terms synonymous to this condition are nyctophobia (meaning fear of night) and scotophobia (meaning fear of darkness). [read more]
Also called borreliosis, lyme disease is an infectious disease that results from an invasion of a bacteria from the genus Borrelia. The point of infection is usually the bite of a contaminated black-legged or deer tick. Other carriers, including other kinds of ticks, may also pass the affliction to humans. In the US, lyme disease is primarily caused by borrelia burgdorferi, whereas Borrelia afzelii and Borrelia garinii are the predominant causes in Europe. [read more]
Lymphangioleiomyomatosis, LMA for brevity, is a rare lung disorder in which abnormal smooth muscle cells grow rapidly in lung and lymph tissue [read more]
Lymphatic filariasis is a parasitic and infectious tropical disease. It is endemic in tropical areas of the world, where it was said that up to 54% of the population have microfilariae in their blood (Aupali T, Ismid IS, Wibowo H, et al. (2006). "Estimation of the prevalence of lymphatic filariasis by a pool screen PCR assay using blood spots collected on filter paper". Tran R Soc Trop Med Hyg 100 (8): 753?9). [read more]
Lymphedema otherwise known as lymphatic obstruction is a condition where there is retention of localized fluid caused by an unhealthy lymphatic system. Its primary danger to a person is the constant risk of developing an uncontrolled infection in the affected limb. [read more]
It is also referred to as lymphopathia venereal which is a tropical bubo, climatic bubo, strumous bubo, poradenitis inguinales, Durand-Nicolas-Favre disease and lymphogranuloma inguinale and it is also a sexually transmitted disease. [read more]
Lymphomas are part of the broad group of diseases called hematological neoplasms. It is a type of cancer that originates in a type of white blood cell in the vertebrate immune system that is commonly known as the lymphocytes. [read more]
Follicular lymphoma of small-cleaved-cell is a type of lymphoma, which is immunologically homogeneous: Ig+ B1+ B2+ CALLA+ Ia+. [read more]
Lymphosarcoma is a type of lymphoma that is also commonly known as Non-Hodgkins lymphoma (Neighbors,M. and Tannehill-Jones,R. 2000 Human Diseases, pp.115-115). It is a malignant lympohoma in which neoplastic cells diffusely infiltrate the entire lymph node without any pattern. [read more]
Lysinuric protein intolerance, also known as hyberdibasic aminoaciduria type 2 or familial protein intolerance, is a autosomal recessive disorder of amino acid transport. [read more]
Lysosomal alpha-D mannosidase deficiency is an autosomal recessive metabolic disorder that often causes mental and physical deterioration. [read more]
Lysosomal disorder is among the group of forty human genetic disorders that results from malfunction of the lysosomal (Winchester B, Vellodi A, Young E (2000). "The molecular basis of lysosomal storage diseases and their treatment". Biochem. Soc. Trans. 28 (2): 150?4). [read more]
By definition, this disease was named named after the French physician Prosper M?ni?re, who was the first to make a report in an 1861 article that vertigo was caused by inner ear. Today, M?ni?re's disease is recognized as a disorder of the inner ear that can affect both hearing and balance [read more]
Machado-Joseph Disease pertains to a rare type of hereditary spinocerebellar ataxia characterized by ophthalmoplegia, mixed sensory and cerebellar ataxia, and general lack of muscle control. It is also alternatively known as Spinocerebellar ataxia type 3. [read more]
Macroglobulinemia otherwise known as Waldenstr?m Macroglobulinemia, is a cancer involving lymphocytes. It is characterized by increased levels of macroglobulins in the circulating blood and diffuse of infiltration of bone marrow and produces symptoms of hyperviscosity. [read more]
Macroglossia dominant refers to the severe enlargement or hypertrophy of the tongue which cause functional difficulties in speaking, eating, and sleeping. It is most common in primary and myeloma-related amyloidosis, which refers to the accumulation of insoluble proteins in tissues that impedes its normal functioning (Merck Manual 17th Ed.) [read more]
Degeneration is a medical condition that is mostly found in elderly adults wherein the center of the lining of the eye known as the macula area of the retina suffers thinning atrophy and to certain extent, bleeding of the eye. It one of the leading cause of central vision loss or blindness for those ages over fifty (de Jong PT (2006). "Age-related macular degeneration". N Engl J Med. 355 (14): 1474 ? 1485). [read more]
Age-related Macular Degeneration is a medical condition that is mostly found in elderly adults wherein the center of the lining of the eye known as the macula area of the retina suffers thinning atrophy and to certain extent, bleeding of the eye. It one of the leading cause of central vision loss or blindness for those ages over fifty (de Jong PT (2006). "Age-related macular degeneration". N Engl J Med. 355 (14): 1474 ? 1485). [read more]
Polymorphic macular degeneration is a medical condition which is mostly found in adults due to polymorphism. It is the leading cause of central vision loss (blindness) in the United States today for those over the age of fifty years (de Jong PT (2006). "Age-related macular degeneration". N Engl J Med. 355 (14): 1474 ? 1485). [read more]
Mal de barquement Syndrome or MdDs or Disembarkment syndrome is a rare condition which usually occur after a sustained motion even like cruise or aircraft flight. The phrase means ?sickness of disembarkation?. [read more]
Malabsorption is a condition characterized by impaired absorption of nutrients from the GI tract, affecting the small intestine's ability to adequately absorb nutrients that are essential for the normal functioning of the body. [read more]
It is a rare inflammatory condition manifested by a papule, plaque or ulceration that affects the genitourinary tract. It is described by the presence of histiocytes with basophilic inclusions called Michaelis-Gutmann bodies. [read more]
Breast cancer is not just a woman's disease. Men also have breast tissue that could undergo cancerous changes. While women are about 100 times more likely to get breast cancer, any man can still develop breast cancer. Male breast cancer is common between the ages of 60 and 70. [read more]
17-beta-hydroxysteroid dehydrogenase deficiency-3 is a rare disorder of sexual development which affects the biosynthesis of testosterone which can produce male pseudohermaproditism (intersexuality) of genetically male infants and children .This autosomal recessive medical condition can bring about great effects in the primary and/or secondary sex attributes among male and female individuals. [read more]
Malouf syndrome is a very rare syndrome primarily characterized by a heart disease in addition to abnormal ovaries. This congenital disorder is also known as congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome. Malouf syndrome is derived from the name of Jean Malouf, who is a famous sideshow performer during the 19th century; she was born in Montreal. [read more]
Malta fever, also known as undulant fever or brucellosis, is a contagious disease that affects the central nervous system and can lead to painful joints as well as miscarriage. [read more]
Mammary duct ectasia happens when a milk duct beneath the nipple becomes dilated and filled with fluid. The milk duct can then become congested or clogged with a thick, sticky substance. [read more]
Mannosidosis (alpha-mannosidosis) is a rare inherited metabolic disorder characterized by a deficiency of the alpha mannosidosase. This occurrence results in the accumulation of certain chemicals in the body leading later on to mental and physical deterioration. The enzyme alpha-mannosidosase aids in the breakdown of complex sugars derived from glycoprotein in the organelles that contain digestive enzymes (lysosomes). [read more]
Mantle cell lymphoma is one of the rarer types of the non-Hodgkin's lymphomas. The lymphoma can spread to other parts of the body including the liver, bone marrow or spleen. This occurrence is prevalent to males rather than females, with the ratio of 4:1. [read more]
Marfan syndrome is a connective tissue disorder affecting many structures like skeleton, lungs, eyes, blood vessels and heart since connective tissue is found in all parts of the body. It is an inheritable condition in an autosomal dominant genetic pattern. [read more]
Maroteaux-Lamy syndrome is a rare disorder of mucopolysaccharide metabolism due to a deficiency of the enzyme aryl sulphatase B, the enzyme necessary to break down the complex sugar glycosaminoglycan (formerly referred to as mucopolysaccharide). This complex sugar needs to be recycled and replayed to carry out its normal function of providing structure to skin, bones, organs, and airways. It belongs to a group of uncommon inherited diseases categorized as lysosomal storage disorders. Other names for Maroteaux-Lamy syndrome are mucolopolysaccharidosis VI and MPS VI. [read more]
Mastitis is a disease commonly seen in women breastfeeding refers to that kind of infection of the tissue surrounding the breast area which thereby results into the breast's painful swelling usually accompanied by its redness and tenderness. Most often, person affected with this infection are mothers who are breastfeeding their infants inasmuch as it occurs within the first six weeks after giving birth. However, even if the mother is affected with Mastitis, she can still breastfeed her child but usually feels tired and restless thereafter.` [read more]
Mastocytosis is a group of unusual disorder of both children and adults caused by the presence of too many mast cells (mastocytes) and CD34+ mast cell precursors in a person's body. [read more]
By definition MacArdle's disease is also known as Glycogen storage disease type V and is a kind of metabolic disorder that is characterized by the body's inability to produce enough of the muscle isoform called phosphorylase. Relatively recent, it was first identified in 1951 by the English physician whose name it now bears. [read more]
McCune-Albright syndrome is also known as polyostotic fibrous dysplasia. It is a genetic condition with disorder of the bones, pigmentation of skin, and premature puberty with hormonal problems. [read more]
2Measles, which is also known as, Rubeola is a viral disease that has had a long history with medical accounts of it going as far back as 600 B.C. It was first clinically described in an Arabic book which significantly distinguished it from small pox. Measles is one of the great childhood killers, claiming the lives of more then 200 million children and adults in the last 150 years. The development of a vaccine has made the effectively checked the disease. [read more]
By definition Meckel syndrome is also known as Meckel-Gruber Syndrome, Gruber Syndrome, Dysencephalia Splanchnocystica and is an extremely rare and often lethal genetic disorder; it is so rare that estimates for rates of incidence is about .02 for every 10,000 births. The country of Finland has the most number of cases with the incidence as high as 1.1 per 10,000 births. [read more]
Medial Tibial Syndrome, otherwise known as the Shin Splints, is an injury that is usually common to runners and athletes. It refers to the pain arising along the large bone in front of the lower leg or the Shinbone or the Tibia. It is usually a result of the over stress of the shinbone and the connective tissues that are usually present in the muscles of the bone. [read more]
By definition, medulloblastoma is an extremely malignant primary brain tumor that comes from the cerebellum or posterior fossa of the human brain. It belongs to the family of tumors knows as cranial primitive neuroectodermal tumors or PNET. [read more]
This is also known as Otospondylomegaepiphyseal dysplasia (OSMED) and is an autosomal recessive disorder that affects bone growth resulting in skeletal abnormalities and a host of other complications. severe hearing loss, and distinctive facial features. As the name suggests, the condition affects not only the skeletal structure, but also hearing. [read more]
Megalencephaly is a form of cephalic disease characterized by an abnormally large, heavy, and malfunctioning brain. This disorder is also known as macrencephaly. [read more]
By definition, Megaloblastic anemia is a rare form of anemia classified as macrocytic that result when DNA synthesis is inhibited in the body's red blood cell production [read more]
First described by Henri Meige 1904, this syndrome is now more commonly called oral facial dystonia. [read more]
A non-cancerous (benign), dark spot found on the lips or inside the mouth is called oral melanotic macule. It also sometimes called a labial melanotic macule if found on the lip. [read more]
Characterized in 1984, MELAS is the abbreviation for Mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes, which belongs to the family of mitochondrial cytopathies which include MERRF, and Leber's Hereditary Optic Atrophy. [read more]
Melkersson-Rosenthal syndrome is an extremely rare neurological disorder that basically afflicts facial features [read more]
Meningiomas are actually the most common benign tumors of the brain although there is a small number which can also be malignant. They come from the arachnoidal cap cells of the meninges and represent about 15% of all primary brain tumors. [read more]
Meningitis is a severe bacterial infection that triggers the brain and spinal cord. It commonly affects children ages 6 to 12 months. [read more]
Mercury poisoning is also known as mercurialism, hydrargyria, Hunter-Russell syndrome, or acrodynia when the victims are children. [read more]
This is a process that if unchecked can lead acidemia in which blood pH is very low (less because of the increased production of H+ by the body as well as the inability of the body to form bicarbonate in the kidney. [read more]
Metachromatic leukodystrophy or MLD is the most common type of leukodystrophies, a family of genetic disorders that affect myelin growth and development. Myelin is the fatty covering that insulates nerve fibers throughout the central and peripheral nervous systems. Metachromatic leukodystrophy is also alternatively known as Arylsulfatase A deficiency. [read more]
This autosomal genetic disorder is also called methylmalonic aciduria and one that particularly affects the body's branched-chain amino acids. It is considered a classical type of academia that is organic in origin. [read more]
Microspridiosis is an intection of the intestine that may become life-threatening if the patient's immune system is weak. [read more]
A migraine can be disabling with symptoms so severe, all you think about is finding a dark, quiet place to lie down. Up to 17 percent of women and 6 percent of men are experiencing migraine. [read more]
A valvular heart disease, Mitral valve prolapse is characterized by the displacement of an abnormally thickened mitral valve leaflet into the left atrium during systole. MVP, in its nonclassis form, carries a low risk of complications. Severe cases of MVP though may include complications such as infective endocarditis, regurgitation and in rare circumstances, cardiac arrest that usually results to sudden death. The term for the disease was coined by J. Michael Criley in 1966. It gained acceptance over JB Barlow's ?billowing? of the mitral valve description. MVP has different subtypes namely classic, nonclassic, symmetric, asymmetric, flail or non-flail. The subtypes are based on the leaflet thickness, convacity and type of connection to the mitral annulus. [read more]
Mittelschmerz, a German word to refer middle pain, is condition where there is pain on one side of the lower abdomen that usually occurs in women midway or 14 days before their menstrual period. [read more]
Referring to any several rare hereditary forms of diabetes mellitus due to dominantly inherited defects of insulin secretion, maturity onset diabetes of the young or MODY acts like a mild version of type 1 diabetes. the continued partial insulin production and normal insulin sensitivity however mean it is not type 2 diabetes in a young person. The most common forms of the disease are MODY 2 and MODY 3 but as of 2004, six more types have been named and more are likely to be added. [read more]
Moersch-Woltmann syndrome, also known as stiff person disease, is a rare neurological disorder that causes severe muscle stiffness which could lead to paralysis. [read more]
Moeschler Clarren syndrome is also known as a congenital disorder affecting the development of the lower half of the face, most commonly the ears, the mouth and the mandible. The disease can either occur on one side of the face or both and sever cases can lead to difficulties in breathing, blocking the trachea. The condition may then require a tracheotomy. After clefts, Moeschler Clarren syndrome is the second most common facial birth defect with an incidence of 1 in 3500 to 4500. [read more]
A viral infection of the skin or occasionally of the mucous membranes, Molluscum contagiosum or MC has no animal reservoir and just like smallpox, only infects humans. MC has four different types namely MCV, MCV-1 to -4. The most prevalent is MCV-1, while MCV-2 commonly occurs among adults and is often sexually transmitted. The genitals, lower abdomen, buttocks and inner thighs are often affected in sexually transmitted MCV-2. The lips, mouth and eyelids may also be affected in rare cases. [read more]
Named after French surgeon Henri Modor, Mondor's disease is a rare condition that may involve thrombophlebitis of the breast's superficial veins and the anterior chest wall. The disease may sometimes occur in the arm or penis. The disease is benign and self-limited. It may also involve 1 or more of 3 venous channels namely the thoracoepigastric vein, the lateral thoracic vein and the super epigastric vein. [read more]
A disease that can develop during extended time living at altitude, Monge's disease, or Chronic mountain sickness was first described in 1925 by Carlos Monge. Its acute form is called acute mountain sickness, which occurs shortly after ascent to high altitude. Medicine describes high altitude as over 2500 meters though most cases of CMS occur at over 3000 meters. [read more]
Said to be an autosomal dominant hair disease resulting in short, fragile and broken hair that appears beaded, Monilethrix got its name from the Latin word monile which means necklace and thrix, which is the Greek word for hair. It has not been determined though whether the disease is a disorder of the function or the structure of the hair. [read more]
Morvan disease is a rare autoimmune disorder characterized by muscle abnormalities, cramping, weakness, delirium and insomnia. There are only about 14 recorded cases of the disease throughout medical history. [read more]
Known as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, Charcot-Marie-Tooth disease (CMT) is characterized by loss of muscle tissue and touch sensation, primarily in the feet and legs but also in the hands and arms in the advanced stages of disease. The disease is presently incurable and is one of the most common inherited neurological disorders, with 37 in 100,000 affected. [read more]
In most parts of the world, except Japan, Moyamoya is considered an extremely rare disease. Characterized by progressive intracranial vascular stenoses of the circle of Willis, the condition may result to ischemic events as well as hemorrhagic events. It may also lead to irreversible blockage of the carotid arteries to the brain as they enter into the skull. [read more]
Myeloperoxidse deficiency or MPO is a common genetic disorder featuring deficiency, in either quantity or function of the enzyme myeloperxidase. Said enzyme can be found in certain phagocytic immune cells, particularly polymorphonuclear leukocytes. [read more]
First described in 1962 by Thomas James Muckle and Michael Vernon Wells, Muckle-Wells syndrome is also known as Urticaria-deafness-amyloidosis (UDA). It is a rare autosomal disease, which causes sensorineural deafness, recurrent hives, and can lead to amyloidosis. MWS happens when a mutation in the CIAS1 gene leads to increased activity of the cryopyrin protein. The disorder is closely related to two other syndromes, familial cold urticaria and neonatal onset multisystem inflammatory disease. [read more]
A harmless, fluid-containing (cyst-like) swelling of the mouth or lip lining (mucosa) due to mucus from the small salivary glands of the mouth leaking into the soft tissue, usually from injury (trauma) or blockage of the gland is called oral mucocele. [read more]
Mucopolysaccharidosis Type II, called Hunter syndrome, has a severe form, Type A, which is usually found in children aged 18-36 months. Also considered the classic form, affected children may survive into the second and third decades of life. [read more]
Affecting one in 100,000 people, Maroteaux-Lamy syndrome is a rare genetic disorder affecting one in 100,000 people wherein the enzyme arylsulfatase B is missing. The enzyme normally breaks down the mucopolysaccharides dermatan sulfate and without it mucopolysaccharides build up in all tissues in the body causing progressive deterioration and eventual death.?Doctors Maroteaux and Lamy first described the disease in 1963. [read more]
Mulibrey nanism is a genetic disease and is an extremely rare autosomal recessive genetic disorder characterized by profound growth delays and distinctive abnormalities of the muscles, liver, brain, and eyes. The disorder can lead to dwarfism, which is another term for nanism. Mulibrey is an acronym that stands for (Mu)scle, (Li)ver, (Br)ain, and (Ey)e. [read more]
Multi-Infarct Dementia is a common type of dementia occurring in elderly people aged 65 years old and above. The term usually pertains to a group of syndromes resulting from vascular lesions in the brain. [read more]
A form of irregular heartbeat in which the ventricle contracts prematurely, ventricular premature beat (VPB) or extrasystole is also known as premature ventricular contraction (PVC). The disorder may be perceived as a ?skipped beat? or as palpitations. PVCs are said to be a natural probe since they induce Heart rate turbulence whose characteristic can be measured and utilized to evaluate cardiac function. [read more]
Sometimes called multiple endocrine adenomatosis or Wemer's syndrome, Multiple endocrine neoplasia type 1 (MEN1) is an inherited disorder affecting the endocrine glands. Occurring only in about 3 to 20 persons out of 100,000, MEN1 is quite rare but affects both sexes equally and has no geographical, ethnic, or racial preferences. [read more]
Hereditary multiple exostoses (HME) is a medical condition that is rare, in which bony spurs or lumps (exostoses, or osteochondromas) develop on a child's bone. The disease is synonymous with Multiple hereditary exostoses and Multiple osteochondromatosis. The latter is the term used by the World Health Organization. Exostoses are do not exist at birth. However, 96 percent of affected people develop multiple exostoses by the time they are 12 years old. [read more]
Previously known as multiple organ failure (MOF), multiple organ dysfunction (MODS) is altered organ function in an acutely ill patient requiring medical intervention to achieve homeostasis. Using the term MOF should be avoided since the term was coined based upon physiologic parameters to determine whether or not a particular organ was failing. [read more]
Multiple sclerosis is a chronic, inflammatory, and demyelinating disease affecting the central nervous system. It also known as disseminated sclerosis or encephalomyelitis, which onset, usually occurs in young adults and more common among women. The disease was first described in 1868 by Jean-Martin Charcot. [read more]
Also known as chronic fatigue syndrome (CFS), Myalgic encephalomyelitis is a poorly understood and debilitating disorder of uncertain cause or causes. According to a 1999 study among adults in the United States, CFS is thought to affect approximately 4 per 100 adults, and commonly occurs among women ages 40s and 50s. [read more]
Mycoplasmal pneumonia is a bacterial infection caused by a very small bacterium, in the class Mollicutes. Characteristically, these organisms are resistant to penicillin as well as in other beta-lactam antibiotics. The bacteria closely associated with this condition spread via transmission of respiratory droplets. When the bacteria get attached to the mucosa of a host organism, it will extract nutrients to grow. Its reproduction is by binary fission. The sites where it can commonly get attached include the upper and lower respiratory tract which results to bronchitis, pharyngitis and pneumonia. Atypical Pneumonia refers to the infection caused by this very small bacterium primarily due to its protracted course. Moreover, it is characterized by lack of sputum production and by multiple extra-pulmonary symptoms. Chronic mycoplasma infections had also been associated with rheumatoid arthritis. The severity of illnesses from mycoplasma is often defined as mild to moderate. [read more]
Mycosis Fungoides is also referred to as Alibert-Bazin Syndrome or granuloma fungoides. It is the most common presentation of cutaneous T-cell lymphoma wherein the skin is the primary part of the body that is affected. As the disease progresses, it can also affect the internal organs and the blood. This condition was initially described in 1806 by a French dermatologist named, Jean-Louis-Marc Alibert. Mycosis fungoides caused several misconceptions because it stands for a fungal disease characterized by a mushroom-like presentation. It was named as such by Alibert based upon his description of the disease's severe case which appears similarly to a mushroom. However, it is far from a fungal disease or infection. It is actually a type of non-Hodgkin's lymphoma. [read more]
Mycosis Fungoides Lymphoma is classified as the most common presentation of cutaneous T-cell lymphoma. In general, the skin is the primary part of the body that is affected. However, it can advance internally as the disease progresses. Initially described in 1806 by a French dermatologist named, Jean-Louis-Marc Alibert, mycosis fungoides lymphoma caused some misconceptions. It stands for a fungal disease characterized by a mushroom-like presentation. It was named as such by Alibert based upon his description of the disease's severe case which appears similarly to a mushroom. However, it is far from a fungal disease or infection. It is actually a type of non-Hodgkin's lymphoma. [read more]
Myelofibrosis with myeloid metaplasia is also referred to as Agnogenic Myeloid Metaplasia, Chronic Idiopathic Myelofibrosis, and Primary Myelofibrosis. This condition was initially described in 1879. At present, it is classified as myeloproliferative disease resulting from the growth and proliferation of an abnormal bone marrow stem cell. This is due to the bone marrow being replaced with fibrous connective tissue. Assmann's Disease or Heuck-Assmann Disease is an eponym for this condition. Mean survival for patients with this condition is 5 years. Usual causes of mortality are bleeding, infection, portal hypertension, organ failure and resulting leukemia. [read more]
Myeloperoxidase deficiency is considered a common genetic disorder which is characterized by a deficiency in the quantity of enzyme myeloperoxidase or its lack of functionality in the human body. This enzyme can usually be found in some types of phagocytic immune cells, the polymorphonuclear leukocytes in particular. Myeloperoxidase deficiency typically has no distinct signs of immunodeficiency among majority of affected patients. This is despite its immune deficiency presentation which is especially observed in candida albicans infections. Basically, this condition shows no specific manifestations of an immunodeficiency. The absence of major symptoms for Myeloperoxidase deficiency suggest that the role of the enzyme myeloperoxidase in immune responses might be similar with that of other mechanisms of intracellular killing of bacteria that had been phagocytosed. [read more]
Myoadenylate Deaminase Deficiency or MADD is classified as a metabolic disorder with a recessive genetic cause. This condition affects about 1-2% of the Eastern descent populations which makes it not particularly a rare disease. MADD is somewhat rarer in the Oriental populations. Myoadenylate Deaminase which is also referred to as AMP deaminase is an enzyme responsible in converting adenosine monophosphate or AMP into inosine monophosphate or IMP. This process frees ammonia molecule. This is a portion of metabolic process responsible in converting sugar, fat and protein to cellular energy. A cell usually converts sugar, fat and protein to adenosine triphosphate (ATP) through the mitochondria to utilize energy. Processes within the cell, the muscles in particular then convert ATP to adenosine diphosphate or ADP which frees the energy to perform work. Failure to deaminate AMP molecules covers three major effects which are: 1. The cell and body loses considerable amounts of AMP 2. Ammonia is not freed or released in the event that the cell performs work 3. Maintenance of IMP levels within the cell is impaired [read more]
Centronuclear myopathies (or CNM) are a group of rare congenital myopathies that occur when cell nuclei are abnormally located in the center of the skeletal muscle cells (whereas, normally, they are located in the periphery). A myopathy implies a disease of the muscle tissue itself ? myo is from the word muscle and pathos literally means disease. CNM is considered very rare, but its most commonly occurring form is Myotubular Myopathy (or MTM). [read more]
Myoxozoa is an exotic disease caused by a group of parasitic individuals called myxozoa. The term is from the Greek ?myx?, meaning slime or mucus, and ?zoa?, meaning animals. The myxozoa were originally believed to be protozoan, but were later distinguished to be metazoan through rDNA testing. [read more]
The Naegeli syndrome, otherwise known as the Naegeli-Franceschetti-Jadassohn syndrome, is a rare skin condition. This genetic defect is autosomal dominant in form, with pigmentation of the reticular skin as the most striking characteristic. Named after Professor Oskar Naegeli, a Swiss dermatologist and master chess player, the Naegeli syndrome often affects the palms and soles of humans. [read more]
Naegleria pertains to a rare infection caused by an amoeba called Naegleria fowleri which invades the brain, causing inflammation and destroying the brain tissue. [read more]
Narcolepsy is a neurological condition wherein patients exhibit excessive daytime sleepiness (EDS). The word itself is derived from the French word narcolepsie. It was Jean-Baptiste-?douard G?lineau, a 19th century French physician, who first coined the term by combining the Greek words ?narke? (meaning numbness) and lepsis (meaning attack or seizure). [read more]
Neonatal ALD (short for neonatal adenoleukodystrophy) is a genetic disease affecting infants, causing damage to the adrenal gland and the myelin sheath, or the protective coating of the nerve cells. [read more]
Neonatal jaundice pertains to the yellowing of a newborn infant's skin due to a buildup of indirect unconjugated bilirubin in the skin. [read more]
Neonatal ophthalmitis pertains to a discharge of pus from the eye of a newborn infant. It is also alternatively known as opthalmia neonatorum. [read more]
Neonatal tetanus is a serious tetanus infection of newborn infants. It is also alternatively known as tetatnus neonatorum. In general, tetanus can affect people of all ages; but in babies, this disease is particularly serious and may be fatal. [read more]
Neonatal Jaundice is the yellowing of the skin and other tissues of a newborn infant due to accumulation of indirect unconjugated bilirubin in the skin. This is the result of an overall increase in the total bilirubin in the blood. [read more]
Neuraminidase deficiency is a medical condition caused by insufficient amounts of neuraminidase, a glycoside hydrolase enzyme, which is known to one of the enzymes present on the surface of the Influenza virus. Deficiency of neuraminidase results to the development of a rare lysosomal storage disease called sialidosis. [read more]
Neurasthenia is a medical condition also known as Chronic Fatigue Syndrome. It is characterized by a combination of fatigue, headache, anxiety, headache, neuralgia or painful disorders of the nerve, depression or any turndown in the mood and impotence (the inability to develop erection of the penis). The term ?Neurasthenia? was first used in 1869 by George Miller Beard. [read more]
Neurocysticercosis pertains to an infection of the central nervous system caused by the larva of a pork tapeworm known as Taenia solium. [read more]
Neurofibromatosis is an autosomal dominant genetic disorder. Neurofibromatosis covers all distinct genetic disorders that cause tumors to develop along different nerves. [read more]
Neurotoxic shellfish poisoning is a rare type of food poisoning that results from ingesting contaminated shellfish. [read more]
This condition is also known referred to as Multiple Basal Cell Carcinoma Syndrome, Basal Cell Nevus Syndrome, Gorlin-Goltz Syndrome or Gorlin Syndrome. This condition can be inherited. A person with this disease has multiple defects. Affected areas of the body include the skin, eyes and bones, nervous and endocrine systems. This condition had its very first definition in 1960. It is an autosomal dominant condition that causes unusual appearance of the face and a higher risk for cancer. 1 case per 56,000-164,000 population had been reported to have this condition. A child who had inherited the defective gene from either his mother or father will most likely have NBCCS. [read more]
A type of melanocytic nevus (or mole), congenital melanocytic nevus is found in infants at birth. It is located in the area of the neck and head 15% of the time occurring in about 1% of infants in the United States. Its appearance is similar to those of acquired one but is usually larger in diameter and may have excess hair, called hypertrichosis. Congenital melanocytic nevus microscopically appears similar to acquired nevi with two notable exceptions. The neval cells are found deeper into the dermis for congenital virus, and the deeper neval cells are found along with neurovascular bundles with surrounding sebaceous glands, hair follicles and subcutaneous fat. [read more]
Nezelof syndrome is also a form of thymic dysplasia. This condition is due to a congenital immunodeficiency meaning it is already present at birth. Underdevelopment of the thymus is the major finding among patients. It is also the primary cause of this disease. This condition is an immune deficiency disorder in which the cells that normally fight infections are unable to do their job. As a result, the body becomes sensitive and prone to various forms of infections such as viral and bacterial. Secondary complications affecting the different systems of the body usually arise due to the inability of the immune system to function normally. Nezelof Syndrome is classified as a rare disease mainly affecting the immune system. This condition is strongly considered as a form of combined immunodeficiency in ICD-10 and a deficiency of cell-mediated immunity in ICD-9. [read more]
Nickel is one of the most common metals that is found in majority of everyday items, such as belt buckles, eyeglasses frames, jewelry, etc. Nickel allergy is a sensitivity to products that contain nickel, triggering an allergic reaction upon contact to skin or what is known as contact dermatitis. This is a type of skin inflammation that results to the swelling and reddening of the skin. [read more]
Niemann-Pick disease is classified as an autosomal recessive disorder that mainly affects the metabolism of lipids in the body. This means that the process of breaking down fats in the body and the manner of utilizing it for daily activities is impaired. This disorder affects the body in a way because it causes excessive and unhealthy amounts of lipids or fats to accumulate in the liver, bone marrow, lungs, spleen and even in the brain. Niemann-Pick disease is classified into three variants ? Types A, B and C. There are two distinct bases for the variants of this disease. First is on the genetic cause and second on the symptoms being presented by the patients. [read more]
Niemann-Pick disease Type C is classified as an autosomal recessive disorder. It mainly affects the metabolism of fats and lipids in the body. The process of fat breakdown in the body and the manner of utilizing it for daily activities is greatly affected. This disorder which impairs fat metabolism in the body causes excessive and abnormally high amounts of lipids to accumulate in the liver, bone marrow, lungs, spleen and even in the brain. Niemann-Pick Disease Type C usually occurs during the childhood stages. However, it may also manifest during infancy and adulthood. Incidence for this type of disease had been estimated to be 1 in every 150,000 individuals. Niemann-Pick Disease Type C is more common among individuals of French-Acadian descent living in Nova Scotia. [read more]
Nijmegen Breakage Syndrome or NBS is also referred to as Berlin Breakage Syndrome and Seemanova Syndrome. This condition is a rare form of disease syndrome. It is mainly characterized by chromosomal instability. Probable reason could be as a result of an abnormality or clinical defect in the Double Holliday junction DNA repair mechanism. Nijmegen Breakage Syndrome is usually manifested by several distinctive characteristics. Major clinical presentation includes microcephaly, distinct appearance and expression of the face, shortness in stature, immunodeficiency and sensitivity to radiation. Patients who are diagnosed with NBS are found to have an increased risk of having lymphoid malignancy. The name, Nijmegen Breakage Syndrome, was derived from the Dutch city, Nijmegen which was where the first description of this disease had been established. Majority of the people afflicted with NBS have origins from the West Slavic. A significant percentage live in Poland. [read more]
Nocturnal Enuresis also known as bedwetting is involuntary urination while asleep after the age at which bladder control would normally be anticipated. Primary Nocturnal Enuresis (PNE) is during a child has not yet stayed dry on a regular basis. Secondary Nocturnal Enuresis is when a child or adult starts wetting again after having stayed dry. [read more]
Noma came from the Greek term numein which means to devour. This condition is also referred to as Cancrum Oris or Gangrenous Stomatitis. Noma is a form of gangrenous disease which leads to destruction of the tissues of the face. Commonly affected areas are the cheeks and mouth. Noma has significantly high rates of morbidity and mortality. A rough estimate of 80% had been reported. Children under the age of 12 years who are living in the poor countries of Africa have high predisposition to this disease. Asian children as well as several countries within South America also present a certain degree of predisposition. Majority of the children who develop Noma are around the ages 2 to 6 years old. An estimated number of 500,000 individuals had developed this disease according to the WHO. 100,000 new cases arise every year. [read more]
Non-Hodgkin Lymphoma or NHL is characterized by a certain group of cancers which arise from lymphocytes. NHL has distinctive clinical presentation from Hodgkin Lymphoma based on its pathology and epidemiology. It is also different from Hodgkin Lymphoma based on the commonly involved sites, clinical behavior and medical treatment. Diseases associated with non-Hodgkin Lymphomas presents diversity. The course of the diseases varies as well as the treatments. Prognoses for recovery among patients are also variable. Non-Hodgkin lymphoma usually develops in the spleen, lymph nodes and tonsils or in other organs which are related to the lymphatic system. Majority of the cases initially present as infiltration of lymph nodes. However, there are some subtypes which are restricted to other organs of the lymphatic system. [read more]
Non-ketotic Hyperglycinemia (NKH) more commonly known as Glycine encephalopathy is an autosomal recessive metabolic disorder. Clinical presentation shows abnormally high level of Glycine which is a form of amino acid. This works as a neurotransmitter or chemical messenger in the brain. Primary cause of non-ketotic hyperglycinemia is insufficient amounts of the enzyme which normally metabolizes the amino acid, glycine, in the body. Shortage or lack of this enzyme allows abnormally high levels of glycine to accumulate in the organs and tissues. Particularly affected is the brain which leads to complicated medical problems. [read more]
The non-small cell lung cancers are taken as one group because their prognoses for recovery and treatments are basically the same. There are three main sub-types of non-small cell lung cancer namely adenocarcinoma, squamous cell lung carcinoma and large cell lung carcinoma. Squamous cell lung carcinoma accounts for 31.1% of the cases. This type of non-small cell lung carcinoma usually starts in close proximity to central bronchus. Development of cavities and necrotic tissues within the center of the cancer site is a major and common finding. Squamous cell lung cancers which are well-differentiated often develop and spread at a slower pace compared to other cancer types. Adenocarcinoma accounts for 29.4% of the cases. This type usually starts in peripheral lung tissue. Majority of the cases are related to smoking. Adenocarcinoma is the most common type of lung cancer among non-smokers. Bronchioloalveolar carcinoma is another subtype. Women who are non-smokers are more predisposed to this cancer form and responses to treatment vary. Large cell lung carcinoma accounts for 10.7% of lung cancers. This type grows rapidly and develops near the lung surface. It is poorly differentiated most of the time and has a tendency to metastasize during its early stages. [read more]
Noonan Syndrome or NS is classified as a relatively common genetic disease. It is a congenital condition affecting both the male and the female. It was formerly considered as the male counterpart of Turner's syndrome. Despite this comparison, the genetic causes of Noonan syndrome are distinct from Turner syndrome. The clinical presentation of Noonan syndrome is primarily congenital heart malformation, problems with learning, indented chest, short stature, impairment of blood clotting and characteristically configured features of the face. Noonan syndrome acquired its name from Dr. Jacqueline Noonan. Approximately 1 in every 1,000 and 1 in every 2,500 children all over the world are born with this condition. In fact, it is considered as one of the most common genetic diseases with close relation to congenital heart disease with the same occurrence with that of Down syndrome. [read more]
Nose foreign body pertains to the presence of an object not normally present in the nose or the nasal cavity. Common objects found inside the nasal cavity include tissue paper, food material, toys, beads, and rocks. [read more]
Nosebleeds pertain to bleeding coming from the nose commonly occurring in children between 2-10 years of age. Nosebleeds are also known medically as epistaxis. [read more]
Nystagmus is involuntary eye movement that can be part of either the vestibulo-ocular reflex (VOR) or a pathological process. It is characterized by alternating smooth pursuit in one direction and saccadic movement in other direction. [read more]
Oculocutaneous albinism is a condition resulting in the lack of pigmentation in the eyes, skin and hair. Other affected individuals may show an almost-normal level of pigmentation. Oculocutaneous albinism type 1 has the least amount of pigment. [read more]
Oculocutaneous albinism is a condition resulting in the lack of pigmentation in the eyes, skin and hair. Other affected individuals may show an almost-normal level of pigmentation. Oculocutaneous albinism type 2 is the most common type of albinism due to a mutation of the P gene. [read more]
Oculocutaneous albinism is a condition resulting in the lack of pigmentation in the eyes, skin and hair. Other affected individuals may show an almost-normal level of pigmentation. Oculocutaneous albinism type 3 is the result of tyrosinase-related protein-1 gene mutation. [read more]
Ohtahara syndrome pertains to a neurological disorder characterized by epileptic seizures which affect newborn infants, usually within the first 3 months of life and more commonly within the first 10 days. [read more]
Optic atrophy is the loss of some or most of the fibers of the optic nerve. [read more]
Ornithosis is a zoonotic infectious disease also known as psittacosis, parrot disease, and parrot fever. [read more]
Osteogenesis imperfecta (OI) is a rare genetic disorder that is characterized by the tendency of the bones to break easily, often with little or possibly no apparent cause. There is a classification system for the different types of OI. This is designed to help describe how severely a patient with OI is affected. [read more]
Otospondylomegaepiphyseal dysplasia, or otherwise known as OSMED is categorized as a genetic disorder of the bone growth. This disorder often results in serious skeletal abnormalities, accompanied by severe hearing loss as well as distinctive facial features. People suffering from this disease often experience pain on the joints and back and are only capable of limited joint movement. [read more]
Paget's disease type 1 is the malfunction in the normal process of the remodeling of the human bones. In normal cases, the bone breaks down and growth and rebuild gradually. However, in the case of Paget's disease, this gradual process is somehow altered , where the replacement bone is porous and soft. [read more]
Pallister Killian mosaic syndrome is a very rare disease that affects humans. It consists of the development of the isochromosome 12p, which has two abnormally small legs. [read more]
Pallister-Killian syndrome is very rare and sporadic cytogenetic abnormality. This medical condition was first described in the three adults by Pallister way back in 1977. The information about this disease is still largely unknown other than the medical belief that it is causes by an autosomal tetrasomy in humans. [read more]
Keratoderma is actually a term that literally means a marked skin thickening. On the other hand, Palmoplantar refers to the skin located on the soles of the feet as well as the palms of the hands. More often than not, this medical condition can be a condition of an internal abnormality. [read more]
Panic disorder is the medical term for a psychiatric condition characterized by recurring panic attacks in combination with significant behavioral change or at least a month of ongoing worry about the implications or concern about having other attacks. [read more]
Panniculitis is characterized as the inflammation of the subcutaneous fat. Generally, human fat is divided into a number of lobules by what is known as the connective tissue septae. The septae contains the blood that supplies the lobule. The arteriole is responsible for supplying the lobule while the venules drain the septae. Panniculitis is the disorder that disrupts the supply from the arteriole or the drainage of the septae. These septae contain the blood that supply the lobule. A feeder arteriole supplies the center of the lobule while venules drain the septae. Disorders which disrupt the arterial supply lead to a lobular panniculitis while venous disorders lead to a septal panniculitis. [read more]
Paragangliomas are characterized as glomus tumors that are said to be derived from paraganglion tissue or the carotid body. These tumors are typically benign and usually grow in the mastoid and middle ear. [read more]
Parainfluenza viruses are paramyxoviruses, of which there are 4 distinct serotypes. Parainfluenza viruses are the second most common cause of lower respiratory tract infections in young children. [read more]
Paralytic shellfish poisoning (shortened as PSP) pertains to one of 4 known syndromes of shellfish poisoning (along with diarrheal shellfish poisoning, neurotoxic shellfish poisoning, and amnesic shellfish poisoning). [read more]
Parapsoriasis is a term that refers to a group of disorders involving the skin. These are most of the time characterized as having similar characteristics to psoriasis which usualy is red, with scaly lesions. Neoplasms has also been found to also devleop from parapsoriasis just like in the case when it develops into a fatty tissue which is often cutaneous T-cell. Examples of this disorder includes Pityriasis lichenoides chronica and Pityriasis lichenoides et varioliformis acuta. [read more]
Parapsoriasis is a term that refers to a group of disorders involving the skin. These are most of the time characterized as having similar characteristics to psoriasis which usualy is red, with scaly lesions. Neoplasms has also been found to also devleop from parapsoriasis just like in the case when it develops into a fatty tissue which is often cutaneous T-cell. Examples of this disorder includes Pityriasis lichenoides chronica and Pityriasis lichenoides et varioliformis acuta. [read more]
Paroxysmal nocturnal hemoglobinuria is a very rare disease. This often acquired and can be life-threatening for the patient. Patients with Parxysmal nocturnal hemoglobinuria is likely to suffer from anemia caused by the destruction of the red blood cells, red urine caused by the presence of hemoglobin in the urine, and also suffer thrombosis. [read more]
Parry-Romberg syndrome is also sometimes called Romberg syndrome. This is a rare and incurable craniofacial disorder. The characteristics of which is slow atrophy of the muscle under the skin covering usually half of the face area usually occuring to females between the age group from 5 to 15. [read more]
Parvovirus infection is a viral infection that usually occurs in children and characterized by the bright red rashes on the cheeks. It is also known as erythema infectiosum, the ?Slapped-cheek disease? and the ?fifth disease?. [read more]
Patau syndrome is also called trisomy 13. This is an abnormality in the chromosome in which a person has an extra chromosome 13. This condition is often inherited by the sufferers. [read more]
Pediculosis is condition termed for the infestation of parasistic insects called lice. They mostly attact the human bodies. The more popular term for the condition is head lice, pubic lice, or body lice. Pediculus humanus capitis or the head lice in most common term affects children belonging to the age groups of 3-10 as well as their families which occur mostly in females. [read more]
Pemphigus Foliaceus is the least severe form of the three varieties of Pemphigus. In this case, the antibodies attack Desmoglein 1 protein which is only found in the upper layer of the skin which is usually a dry layer of the skin. Unlike pemphigus vulgaris, pemphigus foliaceus is not as painfull and often times misdiagnosed to be dermatitis or sometimes eczema. [read more]
Penis cancer is a disease where malignant cells are found to originate from the penile tissues. It is also known as Penile Cancer. [read more]
Perinatal infection is described as an infection which is caused by less common parasites, bacteria, or viruses passed from the mother to the baby during her pregnancy or at childbirth which the baby can get from the mother's vagina at birth. [read more]
Peripheral neuropathy is the term used to describe damage to the nerves in the peripheral nervous system. The damage may be bue to diseases involving the nerve due to side-effects of some systemic illness. The damage or Peripheral neuropathies may vary on how they are presented and how it originated. [read more]
Peritoneum cancer pertains to cancer originating from the peritoneum, a membrane that lines the insides of the abdomen including all the organs found here like the intestines, liver and stomach. Peritoneum cancer is a rare type of cancer mainly affecting women, similar to ovarian cancer. Peritoneum cancer is also alternatively known as primary peritoneal cancer or PPC. [read more]
Pernicious anemia is also popularly known as Biermer's anaemia and Addison's anaemia or even Addison-Biermer anaemia. This is a rare form of megaloblastic anemia which is due to deficiency in vitamin B12 which is caused by an impaired absorption of the vitamin because of the absence of some intrinsic factor especially in the setting of the atrophic gastritis, more specifically, loss of the gastric parietal cells. [read more]
Persistent truncus arteriosus is otherwise known as Truncus arteriosus. This is an extremely rare congenital heart disease usually present at birth. The embryological structure which is named truncus arteriosus didn't properly divide into two parts which is the aorta and the pulmonary artery. [read more]
Peutz-Jeghers is also popularly known as Hereditary Intestinal Polyposis Syndrome. This is an autosomal disease involving the dominant genes. It is occurs as a development of some hamartomatous polyps in our gastrointestinal tract. [read more]
Pfeiffer syndrome is a disorder often genetic in nature. This disorder is characterized by a premature fusion of the craniosynostosis and prevents the growth of the skull thereby affecting head shape as well as the face. This condition though is extremely rare which can also happen to the healthiest people. [read more]
Phaeohyphomycosis pertains to a group of mycotic (fungal) infection identified by the presence of dematiaceous (brown-pigmented) septate hyphae and, sometimes, yeast, or both in the tissue. The infection can be seen as superficial and deep, and often leads to subcutaneous cyst formations. [read more]
Phimosis is a condition wherein the male foreskin cannot be fully retracted from the head of the penis. There are several types of phimosis which includes: 1) infantile phimosis common among newborns; 2) congenital phismosis, a physiological occurance; 3) acquired phimosis, (relative and full phimosis) usually pathological. Women can also suffer from clitoral phismosis. [read more]
Photic sneezing is a genetic autosomal dominant trait, which causes sneezing when exposed suddenly to bright light, possibly many times consecutively. It is also pertains to photic sneeze response, sun sneezing, photogenic sneezing, the photosternutatory reflex, being photo sensitive, or even whimsically as ACHOO syndrome with its related backronym Autosomal dominant Compelling Helio-Ophthalmic Outburst syndrome. The condition affects 17 to 35 percent to humans. [read more]
Coined after the Latin name of magpie, a bird with an indiscriminating and voracious appetite, the medical disorder pica is characterized by an individual's appetite for non-nutritive substances (such as coal, feces, chalk, paper and soil) including raw food or ingredients (like flour, starch and raw potato). An individual affected with the disorder exhibits the behavior for over a month, at the stage where eating these kinds of objects is not developmentally appropriate. Pica is observed among pregnant women, small children, especially those who are developmentally disabled. [read more]
Pinealoma is defined as a rare type of tumor that grows at a slow rate in the patient's brain. This disease is often referred to as pineocytoma or pinealocytoma. [read more]
Pityriasis Alba is characterized as a benign skin condition which are common in children. It manifests as light-colored patches seen usually on the child's cheeks. The condition also typically lasts for a year or even more without being treated. Pityriasis Alba resolves right after puberty or during adulthood. [read more]
Pityriasis Lichenoides et Varioliformis Acuta (PLEVA) is an immune system disease characterized by skin rashes and small lesions. [read more]
Pityriasis rosea is a common human skin disease which presents as numerous patches of pink or red oval rash, mainly on the torso. Although the cause remains unknown, it is most likely a virus. Antibiotics like Erythromycin have been found to be completely ineffective. The condition appears to be completely non-contagious. [read more]
Plague is a life-threatening infection caused by the organism Yersinia pestis, the bacterium that caused the 14th-century Black Death plague pandemic. [read more]
Pneumocystis pneumonia is a type of pneumonia caused by Pneumocystis jirovecii, which is a yeast-like fungus. [read more]
Pneumocystis pneumonia is a type of pneumonia caused by Pneumocystis jirovecii, which is a yeast-like fungus. [read more]
Poland syndrome is a physical condition in which an individual has one-sided congenital malformations of the body characterized by underdeveloped chest muscles and webbed fingers. The abnormalities usually occur on the same side of the body. [read more]
Poliomyelitis is a very contagious disease caused by poliovirus. The disease is usually referred to as polio or infantile paralysis. [read more]
Polymorphous light eruption is a common rash that occurs as a result of sensitivity to sunlight (photosensitivity). Several people who are sensitive to sunlight can experience a reaction after an episode of intense sun exposure, usually in the spring or early summer. [read more]
Polyneuritis is a widespread inflammation of several peripheral nerves at the same time. [read more]
Polyostotic fibrous dysplasia is also known as McCune-Albright syndrome. It is a genetic condition with disorder of the bones, pigmentation of skin, and premature puberty with hormonal problems. [read more]
Uterine polyps are growths appearing on the inner wall of the uterus, and protruding into the uterine cavity, caused by overgrowth of cells. [read more]
Porencephaly is a disorder of the central nervous system due to a cyst or cavity in a cerebral hemisphere that may occur before or after birth. [read more]
Post Traumatic Stress disorder (PTSD) is defined as a severe and ongoing emotional reaction to one or several terrifying events that involved physical harm or the threat of it. These events may include a threat to the life of the patient, a death of someone close to the patient or serious physical injury or threat of it. Some cases may be caused solely by a severe psychological trauma. [read more]
Posterior uveitis is a sub-class of uveitis, a condition characterized by an inflammation of the middle layer of the eye, which is called the uvea. Simply put, it is an inflammatory process involving the interior of the eye. Posterior uveitis refers to the inflammation of the retina and choroid. In the United States, 10% of the blindness cases are attributed to uveitis. Posterior uveitis is the rarer kind of uveitis. [read more]
Postpartum depression is a type of depression occurring in women soon after having a baby. It occurs in 15% of women, usually after a few months upon delivery. A person experiencing postpartum depression worries about her baby's health continuously, develops negative thoughts towards the baby and experiences fears about harming the baby. Obviously, women with postpartum depression may become incapable of taking care of their babies. When women with postpartum depression become suicidal, she may try to kill her baby and other children, thinking that she wouldn't want to abandon them once she successfully commits suicide. [read more]
Postural hypotension, also known as orthostatic hypotension, is a type of hypertension characterized by a sudden decline in blood pressure, usually more than 20/10 mm Hg, that usually happens when an individuals is standing immediately after resting for a significant period of time. The condition is commonly known as head rush or dizzy spell. Oder individuals suffer from the disease more than young ones. [read more]
Prader-Willi syndrome (PWS) is a genetic disorder characterized by hyperphagia, food preoccupation, learning difficulties and having a small stature. It is a very rare disorder that happens in only in 1 in 12,000 or 15,000 live births. It was discovered by Andrea Prader, Heinrich Willi, Alexis Labhart, Andrew Ziegler, and Guido Fanconi of Switzerland in 1956. [read more]
Preeclampsia is the term given to the condition where hypertension is present during pregnancy in connection with significant amounts of protein in the woman's urine. It occurs in as many as 10% of all pregnancies. The condition may develop from 20 weeks gestation. It may also occur 6 weeks postpartum. Preeclampsia is considered as one of the most dangerous complications that may happen during pregnancy because it endangers both the life of the woman and of the fetus. [read more]
Premature Ovarian Failure (POF) is a condition characterized by the loss of the function of the ovaries before the age of 40. It is also known as primary ovarian insufficiency. In the U.S., approximately 150,000 women, or 1-4% of the total population, is suffering from POF. [read more]
Primary amenorrhea is a condition characterized by absence of menstrual periods by the age of sixteen (16). [read more]
Primary hyperoxaluria is a rare condition marked by overproduction of the substance oxalate also known as oxalic acid. Extreme oxalate deposits can combine with calcium and forms calcium oxalate leading to kidney damage or failure and injury to other organs in the body. There are two types of primary hyperoxaluria; type 1 primary hyperoxaluria and type 2 primary hyperoxaluria. The first one lacks the liver enzyme alanine-glyoxylate aminotransferase while the second type lacks the enzyme glyoxylate reductase/hydroxypyruvate reductase. [read more]
Prolidase deficiency is a rare inborn disorder of collagen metabolism characterized by severe ulcerations in the skin, characteristic facial abnormalities, unrelieved joint dislocations, mental retardation, and bacterial infections. [read more]
Protein-energy malnutrition also known as protein-calorie malnutrition is a potentially fatal body-depletion ailment developing in children and adults who consumes insufficient amounts of protein and energy to meet the nutritional demands of the body. [read more]
Proximal myotonic myopathy is a inherited muscular disorder that results to muscle weakness, frequent muscle contractions, cataracts, infertility, balding, and cardiac problems. The disorder was only discovered in 2001. It is also known as myotonic dystrophy type 2. [read more]
Prune belly syndrome is a congenital defect that occurs in about 1 in 30,000 newborn babies. It is a rare birth defect of the urinary system. The disease got its name because of the wrinkled skin that develops in the abdomens of those affected. Prune belly syndrome is also known as Abdominal Muscle Deficiency Syndrome, Eagle-Barrett Syndrome, and Obrinsky Syndrome. [read more]
Pseudomembranous colitis is the inflammation of the large intestine due to the use of antibiotics, which disrupt the balance of good and bad bacteria causing the harmful microorganisms to increase and spread in the colon. It is sometimes referred to as antibiotic-associated colitis or C. difficile colitis. [read more]
Pseudovaginal perineoscrotal hypospadias (PPSH) is a abnormal configuration of an infant's external genitalia. The genitalia then appears to be a midway between a male's scrotum and a female's vagina. [read more]
Pulmonary anthrax is inhaled lung anthrax. Among the different degrees of sickness, pulmonary anthrax is the most severe. Anthrax is a highly dangerous bacterial infection, ans is most often fatal. Other names of pulmonary anthrax include: Lung Anthrax, Inhaled anthrax, and Inhalation anthrax. [read more]
Pulmonary edema of mountaineers is a complication of lung problems and mountain sickness due to the lack of oxygen at places of high altitude. Also known as altitude sickness, the condition leads to hypoxemia and hypoxia, where less oxygen reaches the blood. [read more]
Pulmonic stenosis, cafe-au-lait spots is a rare disease also known as the Watson syndrome. It is characterized by reduced intelligence, short stature, and cafe-au-lait spots in the skin. Pulmonary valves also become narrowed. The disease is caused by problematic mutations in the NF1 gene. [read more]
Thrombotic thrombocytopenic purpura (TTP) is a rare medical condition that affects blood coagulation. The disease results to multiple blood clots in the blood vessels. This is caused by a deficiency of the enzyme ADAMTS13. [read more]
Pyoderma gangrenosum (PG) is a rare ulcerative cutaneous disease first described in 1930. It can develop after a patient suffers injury to the skin. It has two variants: atypical PG, which occurs on the hands, and the classic PG, which affects the legs. [read more]
Q fever is an infectious disease spread by infected cattle and other animals. It is caused by specie of bacteria named Coxiella burnetti. It first became known in the United States in 1999. When cultured, the bacteria can be a potential form of biological warfare, just like anthrax. [read more]
Queensland tick typhus - also alternatively known as Spotted Fever or Rickettsial Spotted Fever - is a type of bacterial parasitic disorder. [read more]
Rabbit fever is an infectious disease that attacks the skin, eyes, and lungs. It is also referred to as deerfly fever or tularemia. [read more]
Rabies is a viral zoonotic neuro-invasive infection that often causes an inflammation of the brain (a condition known as acute encephalitis). Rabies is from the Latin word ?rabies? meaning ?rage, fury, or madness?. Rabies can be fatal when affecting non-vaccinated humans, especially after neurological symptoms have occurred. However, the effects can be curbed if the patient is promptly vaccinated shortly after exposure to the virus. When the disease becomes symptomatic, however, it becomes invariably fatal. [read more]
Ramsay Hunt paralysis syndrome comprises three distinct neurological conditions described by James Ramsay Hunt in early 19th century - Ramsay Hunt syndrome type I, Ramsay Hunt syndrome type II, and Ramsay Hunt syndrome type III. [read more]
Also known as Chronic Focal Encephalitis (CFE), Rasmussen's encephalitis is a rare, progressive neurological disorder affecting a single cerebral hemisphere and usually occurring in children under the age of ten. [read more]
Raynaud's phenomenon, or Raynaud's disease, is a vasospastic disorder characterized by a discoloration of the fingers, toes, and occasionally other extremities. Named after 19th century French physician Maurice Raynaud, Raynaud's disease occurs more commonly in women than in men. When Raynaud's disease occurs without any underlying associated disease, it is known as primary Raynaud's (or simply, Raynaud's disease). If it appears as part of another disease, it is known as secondary Raynaud's or Raynaud's phenomenon. [read more]
Rectal abscess pertains to an abscess buildup in the rectal area, often due to bacterial infections that produce a localized accumulation of pus. The abscess is typically located either at the opening of the rectum or further up the rectum. Rectal abscess is also used alternately with the phrase ?anal abscess?. [read more]
Red eye also called subconjunctival hemorrhage, is a harmless condition in which the white of the eye appears red due to a broken tiny blood vessel. [read more]
Red measles, commonly known as German measles, is a short-lived contagious disease presented by red spots and inflammation of the lymph glands located behind the ears. The disease usually lasts from 14 to 21 days. [read more]
Refsum disease is a group of genetic disorders called leukodystrophies where the white matter of the brain is damaged, affecting motor movements. Refsum disease usually begins in childhood or adolescence and progresses through time. [read more]
Reiter's syndrome is a medical condition characterized by three seemingly unrelated symptoms: redness of the eyes, arthritis, and urinary tract problems. It is a form of seronegative spondyloarthropathy, causing inflammation throughout the body, particularly in parts of the spine and at joints connecting the tendons and bones. Reiter's syndrome is also referred to as a form of reactive arthritis, because the resulting arthritis occurs as a reaction to an infection that started in a different part of the body. [read more]
Renal tubular acidosis (RTA) is characterized by the accumulation of acid in the body as a consequence of the failure of the kidney to adequately acidify urine. The term renal tubular acidosis is attributed mostly to defective urinary acidification in otherwise well-functioning kidneys. There are different forms of renal tubular acidosis, each of which has different causes and symptoms. [read more]
Respiratory infection is more commonly known as upper respiratory infection of (URI). This is a type of infection of the head and chest caused by a virus. The nose, throat, sinuses, ears and airways are affected. This infection usually lasts a couple of weeks. [read more]
Retinitis pigmentosa (RP) pertains to a group of genetic eye conditions characterized by progressive night blindness preceded by an extended period of tunnel vision. In retinitis pigmentosa, abnormalities of the photoreceptors or the presence of retinal pigment epithelium (RPE) cause progressive visual loss in affected patients. [read more]
Retinoblastoma pertains to cancer of the retina that affects children. If untreated, retinoblastoma is almost invariably fatal. [read more]
Retractile testicle is a condition in which the testicle glides back and forth between the scrotum and the groin. [read more]
Rett syndrome is a neurodevelopmental disorder mostly affecting females. This disease is categorized as a pervasive development disorder by the DSM-IV (Diagnostic and Statistical Manual of Mental Disorders). [read more]
Reye's syndrome is a disease commonly occurring in children characterized by a range of several detrimental effects to many organs in the body, particularly the liver and the brain. If undiagnosed and untreated early, it can be potentially fatal. [read more]
Rhabdoid tumor pertains to a very rare and extremely aggressive tumor commonly occurring in children ages 2 to 13 years. Initially, rhabdoid tumor was believed to be a variant of Wilms' tumor. However, recent studies have shown that rhabdoid tumor is an entirely separate entity. The location of this highly malignant tumor may be intraventicular, supratentorial, or infratentorial. [read more]
Rhabdomyosarcoma is a rare form of cancer of the sarcoma (or connective tissues) commonly occurring in children ages 1 to 5 and, in some cases, teenagers ages 15 to 19. The malignant cells are believed to originate from skeletal muscle progenitors. The cancer may also attach itself to muscle tissues, wrap around intestines, or affect any other areas. The cancerous mass may resemble a 6-8 week old embryo in younger children. In teens and older children, the cancer may be as large as a 10-12 week old embryo. [read more]
Rheumatic fever pertains to an inflammatory disease which develops as a consequence of complications from a Group A streptococcal infection (e.g. scarlet fever and strep throat, etc.). Rheumatic fever commonly affects children 6 to 15 years old. [read more]
Richter syndrome is an extremely rare disease characterized by the transformation of chronic lymphocytic leukemia (CLL) into a rapidly progressive form of lymphoma. Also known as Richter transformation, this disorder is a type of high grade non Hodgkin's lymphoma affecting patients with chronic lymphocytic leukemia. To date, only 1 in 20 documented cases of CLL leads to Richter syndrome. [read more]
Rickettsiosis is a bacterial infection caused by microorganisms belonging to the order Rickettsiales. Types of Rickettsiosis vary in terms of degree and severity. The most common examples are Rocky Mountain spotted fever, Rickettsialpox, and typhus, among others. Rickettsiae, the organisms that cause Rickettsiosis, can only survive and multiply intracellularly. They were first discovered in 1909 by Howard Ricketts, an American Researcher. [read more]
Robinow syndrome is a very rare genetic disorder defined by vertebral segmentation, short-limbed-dwarfism, as well as distinct abnormalities in the face, head, and external genitalia. Robinow syndrome has two known forms, dominant and recessive. The dominant form is most common and present with moderate manifestations of known symptoms. Recessive Robinow, on the other hand, presents with more distinct skeletal abnormalities. Robinow syndrome is also alternatively called Robinow dwarfism, Robinow-Silverman-Smith syndrome, fetal face syndrome, fetal facies syndrome, mesomelic dwarfism-small genitalia syndrome, or acral dysostosis with facial and genital abnormalities. [read more]
Romano-Ward syndrome is a major variant of a heart condition known as long QT syndrome, a condition that causes the cardiac muscle to take abnormally longer to recharge between beats. Romano-Ward syndrome is characterized by a disruption of the heart's normal rhythm. [read more]
This condition is very common but oftentimes misunderstood which commonly affects women. The condition starts as erythema (redness or flushing) on the center of the face and across the cheeks, nose or forehead. This condition is sometimes confused and co-exist with acne vulgaris and/or seborrheic dermatitis. [read more]
The Ross river virus is referred to as the arbovirus of the genus Alphavirus. Infections in humans are caused by an epidemic polyarthritis which is commonly known as Ross River Fever. In the years 1995-2004, it infected an average of about 4,000 people annually in Australia. The virus is widespread to the parts of Australia and Papua New Guinea and was later observed in an outburst in the South Pacific in the years 1979-1980. The infection happens most on adults and rarely affects children. [read more]
Congenital rubella syndrome (or CRS) can affect a developing fetus of a pregnant woman who has been infected by rubella during the first trimester of her pregnancy. If the mother is infected 0-28 days before conception, there is a 43% risk of the fetus being affected. If infection occurs 0-12 days after conception, chances of CRS affecting the infant are 51%. If the infection occurs 13-26 weeks after conception, the chances of CRS affecting the fetus are 23%. However, if the infection occurs in the last trimester, specifically in the 26th to 20th week after conception, the infants are not generally affected. [read more]
Rubeola, more commonly known as measles, is a highly contagious disease caused by a virus and spread through respiration. [read more]
Rubinstein-Taybi syndrome, also called Broad Thumb-Hallux syndrome, is a condition characterized by moderate to severe mental retardation, short stature, broad thumbs and first toes, distinctive facial features, and short stature. A distinction can be made between Rubinstein-Taybi like syndrome and Rubinstein-Taybi syndrome; the latter has gene promoter involvement. [read more]
Rumination disorder is a type of eating disorder in which the affected patient brings up partially digested food, and then chews it again before either swallowing or spitting it out. Originally named ?childhood rumination disorder?, this chronic condition commonly affects children 3 to 12 months of age and may cause malnutrition. But while rumination primarily occurs in infancy or childhood, it may also affect adults. In some animals known as ruminants, rumination is a normal part of digestion. However, in humans, this behavior is distinctly abnormal and can be potentially dangerous because the esophagus can be damaged by frequent exposure to stomach acids. Rumination is linked to other eating disorders, including anorexia nervosa, and is believed to be related to the sufferer's apprehension or stress after eating a normal meal. For individuals with bulimia or purging compulsions, rumination may occur when the patient is unable to throw up. To date, there is no known cure or case for rumination. In some cases, the patients may simply ?grow out of it? (or outgrow the condition), but there is no guarantee the affected patients will do so. [read more]
Russell-Silver syndrome is a rare disorder that affects slow development, low birth weight, and obvious differences in the size of the sides of the body. [read more]
Sacral agenesis, also known as hypoplasia of the sacrum or caudal regression syndrome, is a rather obscure and extremely rare congenital condition characterized by spinal deformity in the sacrum (i.e. the spine's caudal partition). It affects an estimated one in 15,000 births. [read more]
Saethre-Chotzen syndrome is an extremely rare congenital condition inherited via the autosomal dominant trait. The most characteristic feature of this disease is caraniosynostosis, a symptom described as premature closure of 1 or more of the sutures between the bones of the skull, occurs. [read more]
Salla disease is an autosomal recessive congenital disease affecting lysosomal storage, resulting in early physical impairment and mental abnormalities. It is also alternatively known as Finnish type sialuria or sialic acid storage disease. [read more]
Salmonella food poisoning is a type of food poisoning caused by Salmonella bacterium. Its effect is the inflammation of the lining of the stomach and intestines called gastroenteritis. [read more]
Santavuori disease is a form of Neuronal Ceroid Lipofuscinoses, a genetic disorder marked by an excessive accumulation of lipopigments (lipofuscin) in the tissues. It is also alternatively known as Infantile Neuronal Ceroid Lipofuscinoses (INCL). Santavuori disease is extremely rare, with only 60 documented cases worldwide. Inherited via the recessive autosomal trait, this disease is degenerative, progressive, and often fatal. [read more]
Sarcoma is one form of primary bone cancer that primarily results in immature tissue in bone marrow. It is also called Ewing's sarcoma, which often occur in children, adolescents, and young adults, from 10 to 20 years old. [read more]
Scabies is a contagious ectoparasite infection of the skin characterized by intense itching, superficial burrows, and secondary infections. The term comes from the Latin word ?scabere? which literally means ?scratch?. [read more]
Scarlatina or scarlet fever covers the body with rashes, turns the tough into a strawberry-like appearance, and results in high fever. [read more]
Scarlet fever is an exotoxin illness characterized by a red ?strawberry-like? tongue, sore throat, fever, and a rash on the upper body that may spread to other parts of the body. A distinction must be made between scarlet fever and rheumatic fever, although the former can progress into the latter. [read more]
Scheie syndrome is the mildest form of MPS I, the most frequently occurring type of Mucopolysaccharidosis, or a group of hereditary metabolic diseases that result from the malfunctioning or absence of lysosomal enzymes necessary for breaking down long chains of sugar carbohydrates known as glycosaminoglycans. [read more]
Schmidt syndrome is an adrenal defect that commonly occurs with another glandular disorder. Schmidt syndrome is also known as ?autoimmune polyendocrine syndrome type 2?, a more heterogeneous form of autoimmune polyendocrine syndrome which affects one or more endocrine organs but has also been known to invade other non-endocrine organs. Schmidt syndrome is a more commonly occurring type of autoimmune polyendocrine syndrome. [read more]
Schwannomatosis is a disorder that causes tumors, known as Schwannomas to grow on nerves in the peripheral nervous system. It is a form of a genetic disorder known as Neurofibromatosis, an autosomal dominant genetic disorder. In Schwannomatosis, there is a great possibility that the nerves in the head and peripheral nerves may be affected. [read more]
Seckel syndrome is a rare medical condition marked by fetal and postnatal growth retardation, mental retardation and characteristic or distinguishing facial features. [read more]
Sepsis is a life-threatening medical condition marked by a whole-body inflammatory state caused by the presence of pathological microorganisms in the blood. Sepsis can affect an individual of any age but is most common in infants (neonatal sepsis). This is because the immune systems of infants are not yet fully developed to fight off infections. [read more]
Severe Acute Respiratory Syndrome (SARS) is an infectious respiratory condition in humans. It was reported to have an initial outbreak that has turned out to be pandemic during November 2002 to July 2003. But it was only on February 2003 when SARS reached public spotlight. [read more]
SARS is an infectious respiratory illness that had an outbreak in February 2003. SARS starts with flu-like symptoms and either the condition develops or subsides to chronic respiratory phase. When SARS develops to the second phase the condition can be deadly. [read more]
Sexual Neuropathy is a medical condition where there is damage in the nerves that results in to a reduced or less sexual function both in men and women. [read more]
Shigellosis is an infectious disease affecting the intestinal tract, which can be transmitted through oral and fecal route. It is mainly considered as a food borne illness. The condition may be severe especially with child patients. It is usually predominant in places with poor hygiene because the causative organism is mostly found in water contaminated with human feces. [read more]
Short QT syndrome is a congenital abnormality in the normal rhythm of the heart. The heart of an individual with Short QT Syndrome takes less time than normal to recharge between beats. Left untreated, the irregular heartbeats will manifest signs and symptoms starting from dizziness and fainting, later on cardiac arrest and worse may lead to sudden death. [read more]
Shprintzen Syndrome goes by different names like velocardio-facial syndrome, DiGeorge syndrome, and 22q11.2 deletion syndrome. This medical condition is a rare inherited syndrome of cardiac deficiencies and craniofacial abnormalities. [read more]
Shulman-upshaw syndrome is a hereditary form of Thrombotic thrombocytopenic purpura (TTP), which is a rare blood condition marked by the formation of blood clots known as thrombi within the circulation. This condition results in the consumption of platelets therefore leading to low platelet counts. [read more]
Shwachman syndrome is a rare genetic disorder with numerous and wide-ranging manifestations. The disease is characteristically marked by signs of insufficient fat and nutrient absorption because of abnormal development of the pancreas and improper functioning of the bone marrow, which results in hematologic abnormalities. [read more]
Shwachman-Diamond syndrome (SDS) is a rare congenital disorder that occurs in just about one in 50,000 births. This syndrome affects multiple organs in the body and symptoms may differ from one individual to another. People who have Shwachman-diamond syndrome are at a great risk of developing life-threatening complications such as severe infections, acute myelogenous leukemia and bone marrow failure in addition to exocrine pancreatic dysfunctions. [read more]
Shy-Drager syndrome is a degenerative neurological disorder affecting the brain and other parts of the nervous system specifically the autonomic nervous system. The disorder is identified and was named after Dr. Milton Shy and Dr.Glen Drager; two researchers who described the syndrome in 1960. Patients with Shy-Drager syndrome experience wide ranging damage to the autonomic nervous system, the part of the nervous system responsible for controlling involuntary functions. [read more]
Silicosis is an occupational lung disease due to inhalation of silica dust. The disease is characterized by inflamed and nodular lesion scars in the upper lung lobes. Silicosis was first described in 1705 and is also known by other names like Grinder's disease and Potter's rot. Silicosis is the most common occupational lung disease in the world. [read more]
Silver-Russell dwarfism is another type of less common dwarfism. It is also known as Silver ? Russell Syndrome and Russell ? Silver syndrome. [read more]
Simpson-Golabi-Behmel syndrome is a rare genetic congenital disorder marked by accelerated growth and other abnormalities. The syndrome is also known as Sara Agers Syndrome and Bulldog Syndrome. The syndrome somehow resembles another overgrowth syndrome referred as Beckwith- Wiedemann syndrome; another syndrome concerned with insulin-like growth factor 2 (IGF2). [read more]
This is a disorder that is distinguished by pauses in breathing during sleep. Episodes known as apneas lasts long enough that one or more breathes is missed which occur frequently during sleep. Episodes happen between a minimum of 10 minutes interval. [read more]
Smallpox is a very serious and infectious disease that is brought about by the variola virus. The name was derived from the pus-filled blisters that form and appear during the duration of the illness. Smallpox is contagious; it spreads through tiny drops of saliva when an infected person coughs, sneezes or talks usually during close face-to-face contact. [read more]
Smith-Magenis syndrome is a unique and clinically identifiable genetic medical condition marked by a specific pattern of physical, behavioral and developmental characteristics and presentations. It is a rare disorder estimated to occur in roughly one out of every 25,000 births. [read more]
The medical term for this kind of infection is pharyngitis. It is the swelling of the pharynx and in most cases is painful. It is regarded to be caused by viral infection (90%) while the remainder is caused by bacterial infection and in rare cases oral thrush. Irritation due to pollutants or chemical substance, sometimes cause sore throat. [read more]
Spielmeyer-Vogt disease is a progressive genetic disorder where defective lipid metabolism that causes blindness, neurological deterioration, dementia leading to total incapacitation within years and death within 10-15 years. It is the most common type of a group of disorders called neuronal ceroid lipofuscinosis (NCLs). The disease is also known as Batten disease. [read more]
Spinal muscular atrophy is a degenerative group of disorder affecting the spinal cord and nerves, which results in muscle wasting and weakness caused by loss of motor neurons of the spinal cord and brainstem. [read more]
Spondyloepiphyseal dysplasia is a rare genetic bone growth disorder that leads to dwarfism, skeletal abnormalities, and in some cases visual and auditory disturbances. As the name of the disease suggests, this rare medical condition can be defined as a disease that affects the bone of the spine and the ends of bones and is actually presented at birth. [read more]
Spondyloepiphyseal dysplasia, congenital type is a rare genetic bone growth disorder that leads to dwarfism, skeletal abnormalities, and in some cases visual and auditory disturbances. As the name of the disease suggests, this rare medical condition can be defined as a disease that affects the bone of the spine and the ends of bones which is present at birth. [read more]
Spondylometaphyseal dysplasia is a rare inherited bone growth disorder that leads to dwarfism, skeletal abnormalities, and visual problems. As the name of the disease suggests, this rare medical condition can be defined as a disease that affects the bone of the spine and two regions near the ends of bones. [read more]
Steatocystoma multiplex is a congenital inherited medical condition resulting to the presence of multiple cysts on the body usually on the chest but may also present in the upper arms or face. There are also reported cases of presence of cysts in the entire body. [read more]
Stein-Leventhal syndrome is the clinical name for Polycystic Ovary Syndrome, a disorder of the endocrine affecting approximately 10% of all women. Stein-Leventhal syndrome is the most common hormonal disorder affecting women of reproductive age and has been associated as the leading cause of infertility. [read more]
Stiff man syndrome (or Stiff Person syndrome) is a rare neurological disorder with features of an autoimmune disease. SPS is marked by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as noise, touch, and emotional distress, which can set off muscle spasms. Abnormal postures, often hunched over and stiffened, are common signs of the disorder. [read more]
Still's disease, a disorder featuring inflammation, is marked by high spiking fevers, evanescent (transient) salmon-colored rash, and/or arthritis. ---------------------------------------------------------------------------------------------------------------- [read more]
This condition usually seen on people that were abducted, it is psychological response wherein hostages display signs of loyalty to the hostage-taker despite of the danger where the hostage has been placed. This syndrome is also associated to other situations that have similar tensions like battered person syndrome. It was named after the bank robbery that happened in Norrmalmstorg, Stockholm, Sweden where in the people were held hostage from August 23-28, 1973. The syndrome usually affects hostages if the hostage taking took several days. [read more]
Strep throat is an infection caused by group A streptococcus bacteria, and it's very frequent among kids and teens. [read more]
Subacute sclerosing panencephalitis (SSPE) is a rare chronic, progressive encephalitis that mainly affects children and young adults, caused by a persistent infection of immune resistant measles virus. [read more]
SADS is a medical term used to explain unexpected death because of cardiac arrest caused by arrhythmia. Around 300,000 people die from SADS every year in the US. [read more]
Sudden infant death syndrome (SIDS), is the unexplained death in infants ages 1 to 12 months old. This phenomenon is common among infants with low birth weight. SIDS is the third main cause of death among infants in the United States. [read more]
Sweet's syndrome is a skin disorder marked by fever and painful skin lesions. [read more]
Syndactyly is a condition where two or more digits are fused together. It happens normally in some mammals, such as the siamang but is an unusual condition in humans. [read more]
Scleroderma is a chronic disease marked by excessive deposits of collagen in the skin or other organs. The localized type of the disease, while disabling, does not tend to be fatal. The systemic type or systemic sclerosis, the generalized type of the disease, can be fatal as a result of heart, lung, kidney, or intestinal damage autoimmune disease. [read more]
Carnitine deficiency is a metabolic state in which carnitine concentrations in plasma and tissues are less than the levels needed for normal function of the organism. Biologic effects of low carnitine levels may not be clinically significant until they reach less than 10-20% of the norm. [read more]
A heart rate over 100 beats a minute is known as tachycardia. Some tachycardias are relatively benign and need no treatment, but others can be life-threatening. [read more]
A clubfoot, or talipes equinovarus (TEV), is a birth defect wherein the foot is twisted in (inverted) and down. [read more]
TAR Syndrome (Thrombocytopenia with Absent radius) is a rare genetic disorder which is marked by the absence of the radius bone in the forearm, and a dramatically reduced platelet count. Symptoms of thrombocytopenia, or a lowered platelet count, results to bruising and potentially life-threatening haemorrhage. [read more]
In medicine, hereditary hemorrhagic telangiectasia (HHT), also called Osler-Weber-Rendu syndrome, is an autosomal dominant genetic disorder that leads to vascular malformations. [read more]
Toxic Epidermal Necrolysis (TEN), also known as Lyell's syndrome, is a life-threatening dermatological condition that is commonly induced by a reaction to medications. It is marked by the detachment of the top layer of skin (the epidermis) from the lower layers of the skin (the dermis) all over the body. [read more]
Familial male precocious puberty (also called testotoxicosis) is a form of gonadotropin-independent precocious puberty in which boys experience early onset and progression of puberty. Signs of puberty can start as early as an age of 1 year. [read more]
Thiamin Deficiency otherwise known as Beriberi, is a medical condition that refers to the lack of thiamine pyrophospate, which is the active form of vitamin known as Vitamin B-1, which acts as a coenzyme in carbohydrate metabolism and the formation of glucose. [read more]
Thrombocytopenia is the presence of relatively few platelets in one's blood. [read more]
Autoimmune thrombocytopenic purpura (or ATP) is a rare blood disorder where a low number of platelets prevents the blood's ability to clot and results in bleeding into the skin and mucous membranes. [read more]
Candidiasis, commonly known as yeast infection or thrush, is a fungal infection (mycosis) of any of the Candida species, of which Candida albicans is the most common. [read more]
Tick paralysis is the only tick-borne disease that is not due to an infectious organism. The illness is the result of a neurotoxin produced in the tick's salivary gland. After prolonged attachment, the engorged tick releases the toxin to its host. [read more]
Townes-Brocks syndrome (TBS) is a rare genetic disease that affects fewer than 200 people in the whole world. It is a genetic condition that affects several parts of the body. [read more]
Toxic shock syndrome is a rare, life-threatening bacterial infection that has been most often linked with the use of superabsorbent tampons and occasionally with the use of contraceptive sponges. [read more]
Also known as TEF, tracheoesophageal fistuka is an abnormal connection between the esophagus and the trachea, and is a common congenital abnormality. [read more]
The leading cause of blindness around the world, Trachoma is an infectious eye disease that resulted to about 8 million, visually-impaired people around the world. According to studies, the disease results to an estimated US $ 2.9 billion in lost productivity every year. [read more]
This disease is a slowly developing anemia of early childhood, which is characterized by a gradual onset of pallor. It is also known as TEC. The disease means new red blood cells are temporarily not produced. [read more]
Also known as Franceschetti-Zwahlen-Kleain syndrome or mandibulo facial dysostosis, Treacher Collins syndrome is a rare genetic disorder characterized by craniofacial deformities. Found in 10,000 births, the disease's typical features include downward slanting eyes, a small lower jaw, and malformed or absent ears. [read more]
Also known as trichinosis or trichiniasis, Trichinillosis is an infection due to the roundworm Trichinella spiralis. [read more]
Also known as trichinellosis or trichiniasis, Trichinosis is an infection due to the roundworm Trichinella spiralis. [read more]
Commonly known as ?trich,? Trichotillomania or TTM is an impulse control disorder characterized by the repeated urge to pull out scalp hair, eyelashes, facial hair, nose hair, pubic hair, eyebrows or other body hair, that may result in noticeable bald spots. Though classified in the DSM-IV as an impulse control disorder, there are still questions about how it should be classified. [read more]
A form of congenital heart disease, Tricuspid atresia is the complete absence of the tricuspid valve, causing the absence of right atrioventricular connection. This disorder is contracted during prenatal development, when the heart does not finish developing. [read more]
Trimethylaminuria (TMAU) or fish odor syndrome or fish malador syndrome is a metabolic disorder, in which the body is unable to break down trimethylamine, a compound derived from the diet that has a strong odor of rotting fish. [read more]
Triple-A syndrome or Allgrove syndrome is a rare autosomal recessive disorder discovered by Jeremy Allgrove and colleagues in 1978. The name Triple A stands for achalasia-addisonianism-alacrima syndrome. This means that affected individuals have adrenal insufficiency, alacrima (absence of tear secretion), and achalasia. The latter means failure of a ring of muscle fibers such as the sphincter, to relax. [read more]
A form of chromosomal variation, Triple X syndrome is characterized by the presence of X chromosome in each cell of a human female. The condition also known as triplo-X, trisomy X, XXX syndrome, and 47, XXX aneuploidy, it results during a division of a parent's reproductive cells, which occurs once in every 1,000 births. [read more]
This disorder is a form of aneuploidy that has a presence of 3 copies instead of the normal 2, of a particular chromosome. An extra chromosome 21, found in Down syndrome, is called trisomy 21. [read more]
Trisomy 21 syndrome is a form of down syndrome, which is caused by the abnormal cell division involving the 21st chromosome during the development of the sperm cell or the egg cell. [read more]
Commonly found in the tropical regions, Tropical sprue is a malabsorption disease marked with abnormal flattening of the villi and inflammation of the lining of the small intestine. [read more]
A parasitic disease in people and animals, Trypanosomiasis or also known as Sleeping sickness is endemic in certain regions of Sub-Saharan Africa. The region covers 36 countries and 60 million people. Presently, it is estimated that about 50,000 to 70,000 people are infected with the disease. [read more]
TB or Disseminated tuberculosis is a contagious bacterial infection that has spread from the lungs to other organs of the body through the blood or the lymph system. [read more]
The most common form of CNS tuberculosis, Tuberculosis meningitis is an infection of the meninges, or the membranes covering the brain and spinal cord. It is a very rare disorder. [read more]
Tuberculosis (TB) is an infectious disease that is very common and attacks the lungs. The disease can also affect the central nervous system, the lympathic system, circulatory system, genitourinary system, bones, joints, and even the skin. About one-third of the world's population has been infected with the disease and new cases are added at a rate of one per second. [read more]
Tuberous sclerosis is also known as tuberous sclerosis complex (TSC). It is a rare, multi-system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. The disease also has a predilection to tumor and the names are named after a characteristic abnormal growth in the brain, which takes the shape of a tuber root. [read more]
Tungiasis is a skin infestation of the Tunga penetrans flea. The flea is also known as chigoe flea, jigger, nigua, or sand flea and is found in the tropical parts of Africa, Caribean, Central and South America, and India. The disease is endemic in NIgera and Trinidad and Tobago where during the 1980s, tungiasis among children reached 40%. The disease is also rarely found outside said areas. [read more]
A genetic disease characterized by polyps in the colon in additions to tumors in the brain, Turcot syndrome is the association between familial adenomatous polyposis or hereditary nonpolyposis colorectal cancer. The first reported case was done by Canadian surgeon Jacques Turcot, hence, the name. Turcot syndrome is inherited in an autosomal recessive manner with both parents carrying a Turcot gene and a 1 in 4 risk for each of their boys and girls of receiving both parental Turcot genes and suffering from the syndrome. [read more]
A genetic condition, Turner syndrome is a disease in which a female does not have the usual pair of two X chromosomes. [read more]
Also known as Feto-Fetal Transfusion Syndrome, Twin-to-twin transfusion syndrome is a complication with high morbidity and mortality that can affect identical twins or higher multiple pregnancies where two or more fetuses share a common placenta. Severe cases have a 60-100% mortality rate. [read more]
Tylenol liver damage is a liver disease brought about by abusive consumption of the drug Tylenol, an effective analgesic and antipyretic medication used to treat headache and fever. [read more]
Typhoid fever, also known as enteric fever, bilious fever or Yellow Jack, is a bacterial infection characterized by diarrhea, systemic disease, and a rash. [read more]
Typhus is an infectious disease caused by louse-born bacteria that is spread by lice or fleas. Its name is derived from the Greek typhos that means smoky or lazy, which describes the state of mind of those affected with the disease. It is often mistaken for dengue fever in tropical countries. The disease has 3 types namely epidemic typhus, endemic typhus and scrub typhus. [read more]
A genetic metabolic disorder, Galactosemia affects an individual's ability to properly metabolize the sugar galactose. In 1917, Goppert first described the disease, citing a defect in galactose metabolism that was identified by a groups led by Herman Kalckar in 1956. The disease's incidence is about 1 per 47,000 births (classic type) and is much rarer in Japan and much more common in Italy, particularly the traveler region. The disease is also very common within the Irish Traveler population. This is credited to consanguinity within a relatively small gene pool. [read more]
First described in 1952, UHL anomaly is a rare congenital heart disease characterized by a partial or total loss of the myocard muscle in the right ventricle. This results in decreased output of the right side of the heart. [read more]
Ulcerative colitis or colitis ulcerosa is a type of inflammatory bowel disease that affects the large intestine and rectum. A systemic disease affects many parts of the body outside the intestine, it is often confused with irritable bowel syndrome (IBS). [read more]
A rare congenital disease, Umbilical cord ulceration and intestinal atresia can lead to severe intrauterine hemorrhage. There have only been 15 reported cases for the disorder though newer studies are beginning to conclude that it has a higher incidence rate than has been previously reported. One study is said to have established intestinal atresia and umbilical cord ulceration a clear link after 5 cases were reported at the time of publication. [read more]
Uncombable Hair Syndrome, also referred to as spun-glass hair, was discovered by French researchers in the early 1970s and was termed ?cheveux incoiffables.? Uncombable hair syndrome is characterized by scalp hair that has an irregular structure and that is arranged in jumbled bundles, making it impossible to comb. UHS however, is not a common phenomenon. Between 1973 and 1998, there have only been 60 reported cases of the disorder. [read more]
Urachal Cancer is a rare form of bladder cancer that can occur at any site along the urachal tract. First described in 1863 by Hue and Jaequin, the most common locations of the cancer are the umbilicus and the dome of the bladder. The urachus develops inside the womb and after birth, it is no longer needed and normally closes off. Though sometimes there are still traces of it from the bladder to the umbilicus, there is often a small bit left at the bladder end. [read more]
Also simply known as Urban syndrome, Urban Rogers Meyer syndrome is an extremely rare congenital disease has only been reported in two cases. The first to describe the disease was Urban et al. in 1979. [read more]
Urticaria pigementosa is a rare disease and is the most common form of cutaneous mastocytosis. [read more]
Also known as Muckle-Wells syndrome, Urticaria-deafness-amyloidosis (UDA) was first described in 1962 by Thomas James Muckle and Michael Vernon Wells. It is a rare autosomal disease, which causes sensorineural deafness, recurrent hives, and can lead to amyloidosis. MWS happens when a mutation in the CIAS1 gene leads to increased activity of the cryopyrin protein. The disorder is closely related to two other syndromes, familial cold urticaria and neonatal onset multisystem inflammatory disease. [read more]
Usher syndrome is probably the most common condition that affects both hearing and vision. Usher syndrome also has three clinical types: type 1, type 2, and type 3. The most common types in the United States are type 1 and type 2. They account for approximately 90 to 95 percent of all cases of children who have Usher syndrome. [read more]
Usher syndrome type 1C is a rare inherited disorder characterized by sensorineural deafness and progressive vision loss, which starts during the first decade of life. The disorder is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH), which means that Usher syndrome, type 1C, or its subtype affects less than 200,000 people in the US population. [read more]
Uveitis specifically refers to inflammation of the uvea or the middle layer of the eye. The term uvea however may also refer to any inflammatory process involving the interior of the eye. The disease is estimated to be responsible for approximately 10% of blindness in the United States. [read more]
A nonrandom association of birth defects, VATER syndrome or VACTERL association, is not considered a syndrome since all the defects are linked. [read more]
Van der Woude syndrome is a condition affecting the development of the face. It is known for the acronym VDWS. [read more]
One of eight herpes viruses, Varicella zoster virus (VZV) is known to infect humans and other vertebrates. The virus commonly causes chicken pox in both children and shingles and postherpetic neuralgia among adults. [read more]
Varicella-zoster virus is known as a perpetrator for both herpes zoster or shingles and chicken pox, following exposure to the said virus. However, in certain cases, a patient may develop an acute neurological condition called VZV encephalitis that usually comes with some potentially severe and fatal complications. [read more]
Variola is a virus that causes smallpox which can be highly contagious as often a deadly disease. Based in history, smallpox have been known to have such a profound effect in the human health and has caused about 300 million deaths all over the world. [read more]
Congenital absence of the vas deferens (CAVD) or congenital bilateral aplasia of vas deferens is a condition in which both vas deferens, fail to form properly prior to birth. [read more]
Vascular pupura is the appearance of red or purple discolorations on the skin. The small spots are called petechiae, which are less than 1cm, while the large ones are called ecchymoses, which are bigger than 1cm. [read more]
A condition characterized by a reaction that results in the inflammation of the blood vessels, hypersensitivity vasculitis happens when immune complexes lodge in the vessel wall, attracting polymorphonuclear leukocytes that in turn release tissue-degrading substances leading to an inflammatory process. [read more]
Vater Syndrome, sometimes called Vacterl Association, refers to the non-random association ofv ertebral anomalies, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, renal and/or radial anomalies and Preaxial limb anomalies (Weaver, David and Brandt, Ira (1999). Catalog of Prenatally Diagnosed Codition, JHU Press, pp. 248). More specifically , it refers to the abnormalities in structures deduce from the embryonic mesoderm. [read more]
Velocardiofacial Syndrome, otherwise known as the 22q11.2 deletion syndrome, DiGeorge Syndrome Strong Syndrome, is a disease or a condition that is characterized by the deletion of a chromosome that occurs near the middle of the chromosome at a location named or designated as q11.2 It usually one of the causes which causes hypemasality, language delays and speech sound errors (D'Antonio LL, Scherer NJ, Miller LL, Kalbfleisch JH, Bartley JA (2001). "Analysis of speech characteristics in children with velocardiofacial syndrome (VCFS) and children with phenotypic overlap without VCFS". Cleft Palate Craniofac. J. 38 (5): 455-67). [read more]
Velopharyngeal incompetence is a disease which is used to describe the functionality of the velopharyngeal valve. Specifically it is the malfunctioning of the velopharyngel mechanism of a person which is responsible for directing the transmission of sound energy and air pressure in both the oral cavity and the nasal cavity. [read more]
Ventricular septal defect or VSD for brevity is a defect in the wall dividing the left and right ventricles of the heart called the ventricular septum which consists of an inferior muscular and superior membranous portion which is close to the atrioventricular node, It is the most common congenital heart defects in adults and older children (Hoffman JI, Kaplan S. (2002) The Incidence of congenital heart disease, p 39). [read more]
Vernal keratoconjunctivitis is the recurrent, bilateral, interstitial inflammation of the conjunctive that occurs more frequently in warm or dry climates. [read more]
VIPoma, otherwise known as the Verner Morrison Syndrome (Verner, J. V., and Morrison, A. B. (1958) Islet cell tumor and a syndrome of refractory watery diarrhea and hypokalemia. Am J Med 1958; 374) or Vasoactive Intestinal Polypeptide-oma, is a rare functional tumour of the pancreas which is characterized by the over production or producing excess amounts of VIP, which results in sever watery diarrhea, hypokalaemia and hypochlothydria (Buther, G. (2003) Gastroenterology: An Illustrated Colour Text, p. 60). [read more]
Viral hemorrhagic fever, VHF for brevity, is a group of illnesses that are caused by a taxonomically diverse group of simple RNA viruses with lipid envelopes (Gravenstein, N., Lobato, E., Kirby, R. (2007) Complications in Anesthesiology, p.446). It is an illness which is commonly detected or seen in both human and animals. [read more]
Vitamin B 6 Deficiency is a deficiency due to the poor absorption of nutrients particularly Vitamin B6 in the gastrointestinal tracts as in the case of chronic diarrhea and alcoholism or due to intake of isoniazid, hydrolazine and penicillamine [read more]
Vitamin B12 deficiency is the deficiency which usually result from the failure of the digestive tract to absorb Vitamin B12 or Cobalomin which is necessary for making red blood cells and which is responsible for keeping the nervous system functioning. It is said that this deficiency may cause irreversible damage to the person's nerve (Insel, P., Turner, E., Ross, D. (2005). Discovering Nutrition, Jones and Bartlett Publishers, p. 353). [read more]
Vitamin D Resistant Rickets is the clinical condition characterized by the person's prevalent body resistance to the vitamin D treatment generally used in deficiency rickets. [read more]
It is a condition whereby the person is unable to absorb dietary fat due to an inability to secrete bile. It is characterized by neurological problems associated with nerve degeneration in hands and feet (Institute of medicine, Food and Nutrition Board. (2000) Dietary Reference intakes: Vitamin C, Vitamin E, Selenium and Carotenoids, National Academy Press, Washington D.C). [read more]
Vitiligo is a rare skin condition characterized by the loss by color pigmentation of the areas of skin resulting to an irregular white patching. It is associated with systematic diseases like the Pernicous anemia, hyperthyroidism and Addison's disease. [read more]
Vogt-Koyanagi-Harada syndrome or Uveodematologic Syndrome or just VKH for brevity, is an immune-mediated disease. It is a rare condition which may affect both dogs and human and involves melanocyte-containing organ, which is characterized by the inflammation of the inside of the eye or the uveitus, occurrence of poliosis or the whitening of the hair, vitiligo or the loss of the pigmentation of the skin and even meningitis. The mechanism of the disease is said to be the T helper cell mediated autoimmune attack of melanocytes in the skin and uvea and in the central nervous system and inner ear of human (Sigle K, McLellan G, Haynes J, Myers R, Betts D (2006). "Unilateral uveitis in a dog with uveodermatologic syndrome". J Am Vet Med Assoc 228 (4): 543-8). [read more]
Very long-chain acyl-coenzyme A dehydrogenase deficiency or VLCAD for brevity is a disorder of the fatty acid oxidation disorder that hinders the normal conversion of certain fats to energy by the body especially during period without food intake. [read more]
Glycogen storage disease type I otherwise known as the Von Gierke's disease, is a genetic disease that is said to be a most common glycogen storage disease. It impairs the person's ability of the liver to produce free glucose from glycogen and from gluconeogenesis. [read more]
Von Recklinghausen Disease otherwise known as the Neurofibromatosis type I (NF-1) is an autosomal dominant disease characterized by pigmented skin lesions, skin tumors that develop along the peripheral nerves, multiple spiral and cranial nerve tumors and associated gliomas and intracranial meningiomas (Bruce Ostlertt, et al. (2003) Disease of the Eye and Ski n: A Color Atlas, Lippincott, Williams and Wilkins, p.95). [read more]
Von Willebrand Disease or VWD for brevity, is a common hereditary bleeding disorder. It is a coagulation abnormality which can be acquired as a result of medical conditions. [read more]
Vulvovaginitis is the infection of the vulva which may be accompanied with the inflammation of the vaginal mucosa. [read more]
Waardenburg syndrome is a medical condition characterized by differing degrees of deafness, minor defects in structures which arises from the neural chest and anomalies in skin pigmentation. It is associated with various congenital disorders such as defects in the intestine and spine, elevated scapula and the cleft lip palate. [read more]
Waardenburg Syndrome Pierpoint is one of the variation in the name used to refer to the Waardenburg Syndrome or the Klein-Waardenburg syndrome, Van der Hoeve-Halbertsma-Waardenburg syndrome, Mende's syndrome II, Ptosis-Epicanthus syndrome,Van der Hoeve-Waardenburg-Klein syndrome, Van der Hoeve-Halbertsma-Gualdi syndrome, or the Vogt's syndrome, is an unusual disorder of the gene where it is characterized by moderate to severe impairment in the sense of hearing, defects or abnormalities which usually due from the neutral crest and anomalies in the pigmentation of the skin. It is first defined in 1951 by a Dutch Opthalmologist Petrus Johannes Waardenburg (Waardenburg PJ (1951) "A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness". Am J Hum Genet 1951; 3: 195-253). [read more]
Waardenburg Syndrome type 1 is the most common type of Waardenburg Syndrome that is also is also characterized by varying degree of deafness, abnormality in the structure arising from the neutral crest and anomalies in pigmentation. The genetic variation involved in this type of syndrome is the paired box 3 or the PAX3 gene which is placed on 2q35. It symptoms include hypertelorism or distinctive wide-set eyes as a result of a prominent and broad nasal root or the dystopia canthorum. The type 1 of Waardenburg Syndrome usually inherited as an autosomal dominant pattern or where a copy of the altered gene is enough to cause the disorder. No treatment is discovered for the treatment of this type of Waardenburg Syndrome. [read more]
Waardenburg Syndrome type 2 otherwise known as the WS2 is also one of the most common type of Waardenburg Syndrome that is characterized by deafness and abnormality in the structure which usually occur from the neutral crest. It was first identified in 1971 and used to describe a situation where the dystopia canthorum was not present (Arias S (1971). "Genetic heterogeneity in the Waardenburg syndrome". Birth Defects Orig. Artic. Ser. 07 (4): 87-101). Waardenburg Syndrome 2 has a sub-classification namely WS2A and WS2B, which are based on the causative gene involved. Its' symptoms includes moderate to profound hearing impairment. WS2 appears to be inherited as an autosomal recessive pattern where in there must be two copies of the altered gene for a person to be affected. There is no treatment for this type of Waardenburg Syndrome. [read more]
Waardenburg Syndrome type 2 or WS2A for brevity, is a subtype of Waardenburg Syndrome 2 where the variation in the gene involves the MITF or the microphthalmia-associated transcription factor located at the 3p14.1-p12.3. It is also manifest by hearing impairment. It is also said to be an autosomal recessive inasmuch as it need two copies of altered gene to make a person affected with the disorder. [read more]
Waardenburg Syndrome type 2B or WS2B for brevity, is a subtype of Waardenburg Syndrome 2 where the gene involved is the WS2B located at the 1p21-p13.3. Its symptoms also includes moderate to severe lost of hearing. Type 2B of Waardenburg Syndrome is usually inherited as an autosomal recessive pattern where two copies of the altered gene is needed in order that a person may be said to be affected with the disorder. [read more]
Waardenburg Syndrome type 4 or WS4 for brevity or the Waardenberg-Hirschsprung disease, or the Waardenburg-Shah syndrome, is a rare type of Waardenburg Syndrome where the gene affected is the EDNRB or the endothelin-B receptor, the EDN3 or the its ligand or the endothelin-3 and the SOX10 or the SRY-related HMG-box gene 10 that is usually located at the 22q13, 20q13.2-q13.3, 22q13 respectively. Its symptoms includes neurologic manifestations. Waardenburg Syndrome 4 is inherited as an autosomal recessive pattern whereby two copies of the altered gene is needed in order to cause the disorder. Usually, the parents of a person with this autosomal recessive disorder is not affected but is usually has one copy of the altered gene. [read more]
Wagner-Stickler Syndrome or Srickler Syndrome or David-Stickler syndrome, is a genetic disorder which primarily affect the connective tissue particularly the collagen. It is characterized by distinctive facial appearance, eye abnormalities and loss of hearing and problems in the joint areas. [read more]
WAGR syndrome otherwise known as the WAGR complex, Wilms tumor-aniridia syndrome, aniridia-Wilms tumor syndrome, is a genetic disorder which affect children and made them to developed Wilms tumor, Aniridi, Genitourinary disorders and mental retardation. (Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M (2005). "WAGR syndrome: a clinical review of 54 cases". Pediatrics 116 (4): 984-8). [read more]
Waldenstr?m macroglobulinemia , WM for brevity, is a type cancer disease which involves the lymphocytes or the subtype of white blood cells. It is usually a type of lymphoproliferative disease, and is often said to share the same characteristics with the non-Hodgkin Lymphomas ( Cheson BD (2006). "Chronic Lymphoid Leukemias and Plasma Cell Disorders", in Dale DD, Federman DD: ACP Medicine. New York, NY: WebMD Professional Publishing). [read more]
Wallerian Degeneration or Anterograde degeneration is a medical condition where there is a cutting or crushing of the nerve fiber after an injury or when there is part distal to the injury as in the case of a separation of the axon from the neuron's cell nucleus (Trauma and Wallerian Degeneration, University of California, San Francisco). [read more]
Wallis Zieff Goldblatt syndrome otherwise known as the cleidorhizomelic syndrome is a medical condition which can be described as an inherited skeletal disorders which is manifest mainly through the rhizomelic short stature and defects in the lateral clavicular of the person affected (Wallis C, Zieff S, Goldblatt J (1988). "Newly recognized autosomal dominant syndrome of rhizomelic shortness with clavicular defect". Am J Med Genet 31 (4): 881-5). [read more]
Warkany Syndrome or other wise known as the Trisomy 8 is an aberration in the chromosome that causes severe effects on the fetus. It is often observed in person with chronic myeloid leukaemia which may be a result of instability of the karyotype which is probably due to bcr:abl fusion gene. The Warkany Syndrome is discovered by Joseph Warkany. [read more]
Warts are small, rough tumor that is typically located on the hands and feet and can resemble a cauliflower or a solid blister. [read more]
Waterhouse-Friderichsen syndrome, WFS for brevity is usually bilateral and massive, hemorrhage into the adrenal glands caused by fulminant meningococcemia (Kumar V, Abbas A, Fausto N (2005). Robins and Coltran: Pathological Basis of Disease, 7th, Elsevier, pp. 1214?5) [read more]
Watermelon Stomach or the Gastric antral vascular ectasia, GAVE for brevity, is a condition where there is improper function especially in the antrum or the last part of the stomach. It is a rare condition which is cause by the chronic gastrointestinal bleeding or iron deficiency anemia. [read more]
Weaver Syndrome otherwise known as the Weaver-Williams syndrome, is a congenital disorder which is usually linked to the unusual and rapid growth which may formally begin during the prenatal period. Its manifestation includes an unusual facial appearance and unusual skeletal features. It is a syndrome associated with the so called NSD1 (Douglas J, Hanks S, Temple IK, et al (2003). "NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes". Am. J. Hum. Genet. 72 (1)). associated with rapid growth beginning in the prenatal period, a characteristic facial appearance and certain skeletal features. The first syndrome was first described in 1974 by Weaver (Weaver DD, Graham CB, Thomas IT, Smith DW (1974). "A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly". J. Pediatr. 84 (4): 547-52). [read more]
Weber Sturge Dimitri Syndrome otherwise known as the encephalotrigeminal angiomatosis is a rare congenital neurological and skin disorder. It is a phakomatoses and usually associated with port-wine stains on the face, glaucoma, seizures, ipsilateral leptomeningeal angioma and mental retardation. [read more]
Weber Christian Disease or otherwise known as the idiopathic lobular panniculitis is a disorder affecting the skin whereby there is a recurring inflammation of the fat layer of the skin. [read more]
Wegener's granulomatosis is a form of the vasculitis disorder that primarily affects the lungs, kidneys and other organs. Because it mainly affect the organs, it requires a long term immune suppression (Seo P, Stone JH. The antineutrophil cytoplasmic antibody-associated vasculitides. Am J Med 2004;117:39-50). [read more]
Weil Syndrome, otherwise known as the Leptospirosis or the canicola fever, canefield fever, nanukayami fever or the 7-day fever among other names, is a bacterial zoonotic disease which affects both human and animals like mammals, reptile, amphibians and birds. It is an infection that is commonly transmitted to human through allowing fresh water that is contaminated with animal urine to came in contact with the broken skin. It was first observed in 1907 from a post mortem renal tissue slice (Stimson AM (1907). "Note on an organism found in yellow-fever tissue." Public Health Reports 22:541). [read more]
Weil's disease is a potentially fatal infection caused by an organism known as Leptospira ictero-haemorrhagiae that most rats carry and excrete in their urine. [read more]
Weissenbacher Zweymuller Syndrome is a genetic disorder where there is abnormalities in the skeletal system of the person. [read more]
Werdnigg-Hoffman Disease otherwise known as the Sever Infantile Spinal Muscular Atropy or simply Spinal Muscular Atropy Type I is an sutosomal recessive condition that presents either neonatally as floppy baby or with progressive weakness and wating within the first year of life owing to widespread lower motor neuron degeneration (Souhami, R. and Maxham,J. (2002) Textbook on Medicine, p 1391). [read more]
Wernicke's encephalopathy is a medical condition that is caused thiamine or vitamin B-1 deficiency. [read more]
Wernickle-Korsakoff syndrome is a condition characterized by loss of memory and confusion. This is caused by a dysfunction in the brain due to lack of sufficient B vitamins. [read more]
West Nile encephalitis is a viral infection that affects the brain. This disease causes great damages to the central nervous system and can lead to paralysis or even death. [read more]
West Nile virus is an RNA virus which is also a member of the Flaviviridae family that is transmitted through culicine mosquitoes which usually bite birds and infect horses and humans (Guharoy R. Noviasky JA, et al. (2004) West Nile Virus Infection, AmJ Health Syst. Pharm. Jun 15:61 (12). [read more]
West Syndrome also known as the ?Infantile Spasms? is a rare form of epilepsy in infants. The syndrome is related to the age of the person and usually occur in the 3rd and 12th month especially the 5th month of the infant. [read more]
Westphall disease otherwise known as the Hypokalemic periodic paralysis is a rare channelopathy where there is weakness in the muscle and even cause paralysis accompanying a fall in the level of potassium in the blood. It often begins in adolescence and is usually triggered of strenuous exercise followed by rest, high carbohydrate meals and sudden changes in the temperature. [read more]
Wheat Hypersensitivity otherwise known as the Wheat allergy is a kind of food allergy which involves IgE and mast cell response. [read more]
Whipple disease is a systematic and rare disease which is often described as a gastrointestinal disorder that causes mal-absorption and affect other part of the including the heart, lungs, brain and eyes. [read more]
White Sponge Nevus otherwise known as the Cannon's Disease or Hereditary leukokeratosis of mucosa which follow a hereditary pattern as an autosomal dominant trait. It usually occur during childhood or adulthood of the person. [read more]
Whooping Cough otherwise known as the Pertussis is a higly contagious diseased that is said to be caused by a bacteria named Bordetella Pertussis. The disease is often described as the whooping which is generally on high-pitched that usually occur in the case of infected babies and children only (Finger H, von Koenig CHW (1996). Bordetella-Clinical Manifestations. In:Barron's Medical Microbiology (Barron S et al. Eds.) 4th., Univ of Texas Medical Branch). [read more]
Von Willebrand disease or VWD for brevity, is an inherited bleeding disorder which affects the body's ability to clot open wounds which causes heavy and continuous bleeding. [read more]
Acquired Willebrand disease otherwise known as the Von Willebrand disease is the a hereditary coagulation abnormality which arises from a quantitative or qualitative deficiency of von Willebrand factor which is a multimeric protein that is usually required for platelet adhesion. [read more]
Williams syndrome otherwise known as the Williams-Beuren syndrome is a genetic disorder that is characterized by a an unusual ?elfin? facial appearance with a low nasal bridge a different and unusual cheerful demeanor and unpredictable negative outbursts. It is first described by Dr. J.C.P Williams of New Zealand (Dobbs, David. The Gregarious Brain, New York Times, July 8, 2007, Retrieved on September 25, 2007.) [read more]
Wilms tumor-aniridia syndrome otherwise known as the WAGR complex, aniridia-Wilms tumor syndrome, is a genetic disorder which affect children and made them to developed Wilms tumor, Aniridi, Genitourinary disorders and mental retardation. (Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M (2005). "WAGR syndrome: a clinical review of 54 cases". Pediatrics 116 (4): 984-8). [read more]
Wilms' tumor otherwise known as the nephroblastoma, is a tumor which often leads to cancer of the kidneys that more frequently occurs in children. It is frequently detected to children between the ages of two and three and often manifests as a lump in the abdomen. [read more]
Wiskott-Aldrich syndrome otherwise known as the eczema-thrombocytopenia-immunodeficiency syndrome (Aldrich RA, Steinberg AG, Campbell DC (1954). "Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea". Pediatrics 13 (2): 133-9) is a x-linked recessive disease that is characterized by eczema, thrombocytopenia of low platelet counts, immune deficiency and blood in diarrhea. [read more]
Wolf-Hirschhorn syndrome otherwise known as the deletion 4p and 4p- syndrome was first studied in 1961 by H. Cooper and U. Wolf (Cooper H., Hirschhhorn K.(1961). Apparent deletion of short arms of one Chromosome (4 or 5) in a child with Defects of Midline Fusion. Mammalian Chrom Nwsl.4:14) It is said to be a phenotype resulting from a deletion of chromosomal material of the short arm of the 4th chromosome. [read more]
Wolff-Parkinson-White syndrome, WPW for brevity is a medical condition characterized by the pre-excitation of the heart ventricles resulting from the bundle of kent or the abnormal accessory pathway. [read more]
Wolfram syndrome otherwise known as the DIDMOAD which is the acronym for the Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness, generally a genetic disorder classified as a neurodegenerative disease which affects the brain and the central nervous system. It was first describe in 1938 by Dr. Don J. Wolfram, M.D. (Wolfram, D. J.; Wagener, H. P: Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clin. Proc. 13: 715-718, 1938). [read more]
Wolman disease otherwise known as the Wolman's syndrome or acid lipase deficiency is a rare disorder that is a neonates and usually results to death of the infant within the first year of life. It was first observed in 1956 by Moshe Wolman, an Israeli neuropathologist (A. Abramov, S. Schorr and M. Wolman, Generalized xanthomatosis with calcified adrenals, Am J Dis Child 91 (1956), pp. 282?286). [read more]
Woodhouse-Sakati syndrome is an unusual autosomal recessive genetic disorder which results to the malformation and deficiencies affecting the endocrine system (Woodhouse NJ, Sakati NA (1983). "A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities". J. Med. Genet. 20 (3): 216-9). [read more]
Woolly hair syndrome is a condition that is characterized by frizzy and wiry hair that looks like a wool. It affects some percentage of Caucasian and Asian, [read more]
Writer's cramp otherwise known as the mogigraphia is the cramping or the spasm of the hands and the fingers. It is a focal dystonia of the hand. [read more]
X-linked adrenal hypoplasia congenita genetic disorder where it involves the endocrine tissues particularly the adrenal glands. It is usually manifests by adrenal insufficiency where there is reduction of the adrenal gland function which causes incomplete development of the adrenal cortex or the outer layer of the gland. It usually affects male thus, the symptoms includes manifestation of hypogonadotropic hypogonadism which are shown through the less and even lack of sex hormones which causes undeveloped reproductive tissues and cyptorchidism or the undescended testicles and infertility. In women, this disorder is rare but symptoms includes insufficiency of sex hormones and amenorrhea or lack of mentruation. It is said to be caused by the mutation and deletion of the NRRoB1 located at the X chromosome Xp21.3-p21.3 which are responsible for giving DAX1 or the transcription factor protein which controls the activity of certain genes. [read more]
X-linked ichthyosis is a heriditary skin condition which is due to the deficiency of the steroid sulfatase. During prenatal, the X-linked ichthyosis is a condition that affects the placental oestrogen production inasmuch as the steroids from the male fetus are not fully utilize because of the difficulty in the removal of the sulfate group. People with this kind of disorder has low estriol levels and results in to the inability to go into spontaneous labor. [read more]
X-linked mental retardation and macroorchidism otherwise known as the Fragile X syndrome,Fragile Site, Folic Acid Type, Rare, Fra(X)(Q27.3), the Marker Syndrome or the Martin Bell Syndrome, a mental retardation associated with the to x-link retardation. Its incidence includes 1 in 3600 males and 1 in 4,000?6,000 females (Crawford, D.C.; Acuna, J.M. & Sherman, S.L. (2001) "FMR1 and the Fragile X syndrome: Human genome epidemiology review". Genet Med 3: 359-371) [read more]
X-linked severe combined immunodeficiency otherwise known as the common gamma chain is a sub type of the Severe combined immunodeficiency which is said to be a result of the mutation in the gene encoding the common gamma chain (?c) which is a protein that is said to be used by the receptors for interleukins IL-2, IL-4, IL-7, IL-9, IL-15 and IL-21 which are in turn involved in the development and variance of the T and B cells. The symptoms and manifestation of the mutation of the said gene causes a non-functional interleukin signalling which may result to a failure of the immune system to develop and function inasmuch as there is low or none T cells and non-functioning B cells. X-linked severe combined immunodeficiency is said to be an inherited disorder through an X-linked recessive pattern. [read more]
Xanthine oxydase deficiency otherwise known as the Xanthinuria, is a genetic disorder which causes deficiency of xanthine oxidase which is an enzyme that is needed for converting the xanthine to uric acid. [read more]
Xanthinuria otherwise known as the Xanthine oxydase deficiency , is a genetic disorder which causes deficiency of xanthine oxidase which is an enzyme that is needed for converting the xanthine to uric acid. [read more]
Cerebrotendineous xanthomatosis otherwise known as the cerebrotendinous xanthomatosis, or Van Bogaert-Scherer-Epstein syndrome, or the cerebrotendinous cholesterosis, is a kind of xanthomatosis that isassociated with the CYP27A1 geneon the 2nd Chromosome. [read more]
Xeroderma pigmentosum or XP for brevity, is said to be an autosomal recessive genetic disorder of DNA repair where it is characterized by the inability to repair Ultraviolet or UV damages. More often it usually leads to the multiple basaliomas and skin malignancies. [read more]
Type 1 Xeroderma pigmentosum other wise known as the Xeroderma pigmentosum group A is the most classical form of Xeroderma pigmentosum whereby the gene variation involves the XPA located at the 9q22.3. Its symptoms are the same as those of the Xeroderma Pigmentosum itself and the only difference is the gene variation and its location. [read more]
Type 2 Xeroderma pigmentosum or the Xeroderma pigmentosum group B is a complementation subgroup of the main disorder Xeroderma pigmentosum. The gene variation involved in this subtype of the Xeroderma pigmentosum is the XPB gene located at the 2q21. Symptoms are the same as that of the Xeroderma Pigmentosum. [read more]
Type 5 Xeroderma pigmentosum or the Xeroderma pigmentosum group E is a subtype of the Xeroderma pigmentosum where the variation in the gene involved is the DDB2 located at the 11p12-p11. This type only difference to the rest of the types of the disorder as well as to the Xeroderma pigmentosum itself is the gene variation involved and its location. Treatment as well as the symptoms are the same. [read more]
Type 6 Xeroderma pigmentosum or the Xeroderma pigmentosum group F is a complementary group of the Xeroderma pigmentosum characterized by the variation in the gene ERCC4 located at the 16p13.3-p13.13. Symptoms as well as the treatments are similar to that of the Xeroderma pigmentosum itself. [read more]
Type 7 Xeroderma pigmentosum otherwise known as the Xeroderma pigmentosum group G is a complementary group of the disorder Xeroderma pigmentosum characterized by the involvement of the gene RAD2 ERCC5 located at 13q33. Its symptoms as well as treatment and diagnosis are similar to that of the Xeroderma pigmentosum disorder itself. [read more]
Variant type Xeroderma pigmentosum or XPV for brevity, is a complementary group of the disorder Xeroderma pigmentosum whereby the gene involved is the POLH located at the 6p21.1-p12. Usually person who has Xeroderma pigmentosum Variant type suffer from mutation of the gene that codes particular DNA polymerase named as the polymerase-? (eta) which are used when cells goes to a S-phase where there is a damage in the DNA. [read more]
Y chromosome microdeletion or YCM for brevity is a genetic disorder that is caused by missing gene in the chromosome Y. [read more]
Yaws otherwise known as the P?tasse tropica, or the thymosis, the polypapilloma tropicum or the pian is an infection of the skin, bones and joints. [read more]
Yellow fever otherwise known as the yellow jack, the black vomit or the vomito negro, or the American Plague, is a viral and acute disease (Schmaljohn AL, McClain D. (1996 isbn= 0-9631172-1-1). Alphaviruses (Togaviridae) and Flaviviruses (Flaviviridae). In: Baron's Medical Microbiology (Baron S et al, eds.), 4th ed., Univ of Texas Medical Branch). [read more]
Yersinia is a gram-negative rod-shaped genus of bacteria belonging to the family Enterobacteriaceae. They are usually a few micrometers in length and fractions of a micrometer in diameter. The natural reservoirs of Yersinia are rodents and, though less likely, other mammals. In humans, some species of Yersinia are pathogenic and cause infections through the blood or via the alimentary tract. Yersiniosis is the name of the disease caused by Yersinia in humans. [read more]
Yersinia pestis otherwise known as the Pasteurella pestis is a gram-negative facultative and anaerobic bipolar staining that makes it look as a safety pin bacteria which belongs to the family of Enterobacteriaceae (Collins FM (1996). Pasteurella, Yersinia, and Francisella. In: Baron's Medical Microbiology (Baron S et al, eds.), 4th ed., Univ of Texas Medical Branch). Yersinia Pestive have three distinct forms namely: the bubonic, the pneumonic, and the septicemic plague. [read more]
Yolk sac tumor, YST for brevity, and which is otherwise known as the Endodermal sinus tumor or the infantile embryonal carcinoma, is a type of germ cell tumor group of cancers and is said to be common to children under three years old. [read more]
Young Simpson Syndrome or YSS for brevity, is an unusual congenital disorder discovered in 1987. Manifestation of the Syndrome includes hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypothyroidism and even mental retardation and torticollis. It is said that these symptoms are similar to those of the Ohdo Blepharophimosis syndrome. Theories varies regarding the Yound Simpson Syndrome's mode of inheritance. One group suggests that is is through an autosomal recessive inheritance while another group says its is not. [read more]
Yusho disease, which literally means oil disease, is due to PCB poisoning. In 1968, a mass poisoning caused by PCBs occurred in northern Kyushu, Japan. A similar case that occurred in Taiwan was known as Yu-Cheng disease. [read more]
Zellweger syndrome is a congenital disorder caused by reduced or absent peroxisomes in the cells of the liver, kidneys, and brain. Peroximes are cell structures that get rid of toxic substances in the body. The syndrome belongs to a group of peroxisomal diseases, which affect brain development and the growth of the myelin sheath on nerve fibers in the brain. [read more]
Zunich-Kaye syndrome is also known as Zunich neuroectodermal syndrome. It is a unique congenital ichthyosis first described in 1983. It is also allude to as CHIME disorder. It is a hereditary syndrome with only a scarce cases studied and published. Zunich-Kaye syndrome has an autosomal retreating pattern of inheritance. [read more]
Zuska's Disease, also known as lactiferous fistula, is a rare recurrent condition characterized by draining abscesses around the nipple. This disease is often misanalyzed and miscured, occasionally resulting in unnecessary mastectomy. [read more]