Free Online Database Of Diseases, Illnesses & Ailments


175 results found for "200"

  • 1p36 Deletion Syndrome, rare (NIH)
    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]

  • 3-methyl crotonyl-coa carboxylase deficiency
    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-methyl glutaconic aciduria
    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
    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]

  • 49 XXXXX Syndrome
    The 49 XXXXX syndrome (also called as Penta X or pentasomy X) is a chromosomal condition that affects females. In a normal setup, females have only two X chromosomes and anything beyond this is abnormal. In the case of Penta X syndrome, there are an additional three X chromosomes which now totals five. The three additional X chromosomes are the ones that cause multiple problems. These extra X chromosomes are formed together with the two healthy chromosomes inside the nucleus of the human body cells. [read more]

  • Aagenaes syndrome
    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]

  • Abdominal Cystic Lymphangioma
    Cystic lymphangioma is a very rare tumor (comprises just about 6% of tumors that are benign in children) which is often located in the axillary or cervical regions. Sometimes, there are exceptional cases where it is situated in the abdomen. When it is situated in the abdomen, it becomes a rare type of benign tumor which often appears in infants and some children under the age of 5. Boys are more vulnerable to this disease. Abdominal cystic lymphangioma happens when there is an inborn defect in the link of central connecting structure and the primary lymphatic channel. This manifests in abdominal tumors which could occur even without any compression from structures that are adjacent to that part. When clinically tested, these cysts appear as pseudo appendices or pseudo-ascites syndrome. [read more]

  • Aberrant subclavian artery
    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]

  • Ablepharon macrostomia syndrome
    Ablepharon macrostomia syndrome or AMS is a very uncommon genetic disorder that can be inherited. This syndrome is characterized by various physical defects which usually affect areas of the face, fingers, skin, and the genitalia (penis symptoms and some defects on the testes). Patients of AMS could also have other malformations on their abdominal walls or on their nipples. Other traits include having underdeveloped eyelids (or Ablepharon); the absence of eyebrows and eyelashes; mouths that look like that of a fish's (also known as Macrostomia); cracked skin; ears that appear to be low-set (also known as pinnae). The eye defects could appear due to ablepharon. Some people with AMS could also have very thin or sparse hair (alopecia); their skin appears to be wrinkled, dry, coarse, or thick; their fingers could also be webbed and with inadequate extension; the genitalia could have external malformations. In very few cases of Ablepharon macrostomia syndrome, the patient could have little or no nipples at all (having small nipples is known as hypoplastic nipples). One of the worst characteristics could be the protrusion of some parts of the large intestine through a dilated portion of the abdominal wall (this condition is called ventral or abdominal hernia). Infants and children who suffer from AMS may have some delays on the development of their language skills. Some of them may manifest signs of mild retardation of the mind while others may grow up to be normal. A disorder that appears to have the same features as Ablepharon macrostomia syndrome is the Barber-say syndrome. The latter is characterized by laxity of the skin; ablepharon; hypertelorism, macrostomia, telecanthus, acute hirsutism, and helix agenesis of the pair of ears. Less common signs of AMS include undescended testes and hernia on the umbilicus. [read more]

  • Acanthocheilonemiasis
    Acanthocheilonemiasis is an uncommon tropical infectious illness which is caused by Acanthocheilonema perstans, a parasite. This parasite causes rashes of the skin, chest and abdominal pains, joint and muscle pains, lumps on the skin and also neurologic defects. This disease is often transmitted when small flies bite the victim and the bite has the parasite with it. The scientific name of the fly that transmits the ‘infectious bite' is A.Coliroides. Studies manifest that the white blood cell levels at elevated when the parasite is present in the human body. Acanthocheilonemiasis belongs to the parasitic diseases group which is called nematode or filarial diseases. This disease is often found in Africa only because the parasite is found abundantly on this region. Uganda, specifically, has had a lot of reported cases. A handful of patients were found in South America. Other names for this disease are Acanthocheilonemiasis perstans, Dipetalonema perstans, Mansonella perstans, and Dipetalonemiasis. [read more]

  • Accessory pancreas
    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
    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]

  • Acquired Immune Deficiency Syndrome
    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]

  • Acrochordon
    Small growths of skin that develop in some people on the neck, face, groin and armpits are called skin tags or acrochordons. These skin tags do not become cancerous or malignant since they are harmless. [read more]

  • Acrofacial dysostosis, Nager type
    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
    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]

  • Acutane Embryopathy
    Acutane embryopathy is a rare disease that is caused by exposure of the fetus to retinoids and which often results into physical and mental defects at birth. [read more]

  • Acute articular rheumatism
    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]

  • Adenocarcinoma of the lung
    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]

  • Adrenal Hypoplasia Congenital, X-linked (Adrenal Hypoplasia)
    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]

  • Adrenomyodystrophy
    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]

  • AIDS
    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]

  • Anemia, Diamond-Blackfan
    Diamond-Blackfan anemia is a congenital erythroid aplasia, which is commonly present in infants. Patients with Diamond-Blackfan anemia have anemia (or low red blood cell counts). However, the remaining blood cells, such as white blood cells and platelets, have normal counts. Various congenital abnormalities may also occur with Diamond-Blackfan anemia patients. [read more]

  • Arakawa's syndrome II
    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]

  • Arnold-Chiari malformation
    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]

  • Arylsulfatase A deficiency
    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]

  • Aspartylglycosaminuria
    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]

  • Ataxia telangiectasia
    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]

  • Atelosteogenesis, type II
    Atelosteogenesis, type II is a rigorous disorder of the bone and cartilage growth. It is very unusual and baby with this disorder are usually stillborn, though some infant survive they die after caused by respiratory failure. [read more]

  • Atrioventricular septal defect
    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]

  • B-Cell Lymphoma
    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]

  • Bannayan-Zonana syndrome
    Bannayan-Zonana syndrome or other term is Bannayan-Riley-Ruvalcaba syndrome is an unusual hamartomatous disorder through the incidence of several subcutaneous macrocephaly, lipomas and hemangiomas. In an autosomal prevailing form the disease is inherited though wild cases have been documented. Hamartomatous polyposis syndrome is the family where the disease belongs that also involves juvenile polyposis, Peutz-Jeghers syndrome and Cowden syndrome. BZS lesions are slowly developing and simply resectable. Intracranial association and visceral may happen in unusual conditions and can result to bleeding and indicative automatic compression particularly of the spinal cord or spinal nerve roots and may need surgical resection. [read more]

  • Bantu siderosis
    Bantu siderosis is the overload of iron primarily seen in South African people. It involves unusual iron deposits in the liver. It is said that several African people are liable to an augmented skill to absorb iron. Initially, this was said to be a cause of ungalvanised barrels utilized to keep home-made beer that led to augmented oxidation and augmented levels of iron in the beer. Additional researches show that only those individuals that drink this beer acquires an overload in iron and the same syndrome happened in the people of African descent. Because of this, researchers were led to discover the gene polymorphism in the gene for ferroportin that prompts several individuals of African descent to overload iron. [read more]

  • Bardet-Biedl syndrome, type 1
    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]

  • Bare lymphocyte syndrome 2
    Bare lymphocyte syndrome 2 or the other term for the disease is Defective expression of HLA class 2. BLSII genetic basis is not because of the gene MHC II. The result of the mutations in genes is used as the genetic basis that codes for proteins that usually control the expression if the MHC II genes. [read more]

  • Baritosis
    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]

  • Bartonella infections
    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]

  • Behr's Syndrome
    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]

  • Berlin Breakage Syndrome
    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]

  • Bilateral Renal Agenesis
    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]

  • Bourneville's Disease
    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]

  • Bronchopulmonary Dysplasia
    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]

  • Bubonic Plague
    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]

    CAMFAK syndrome or CAMAK syndrome is only an acronym used to describing a rare and inherited neurological disease. It is characterized by peripheral and central demyelization of nerves, similar to that seen in Cockayne syndrome. The name "CAMFAK" is derived from the first letters of the characteristic findings of the disease: cataracts, microcephaly, failure to thrive, and kyphoscoliosis. However, the disease may also occur with or without failure to thrive and arthrogryposis. Among the first signs of the disease are low birth weight and a bird-like face. It is also typical for persons with CAMFAC to be intellectually deficit. Death may even occur within the first decade. Listed as a rare disease by the Office of Rare Disease (ORD) of the National Institutes of Health (NIH), CAMFAK syndrome only affects less than 200,000 people in the US population. [read more]

  • Cancer
    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]

  • Candidiasis
    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]

  • Carbohydrate deficient glycoprotein syndrome
    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]

  • CHARGE Syndrome
    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]

  • Chronic mountain sickness
    Chronic mountain sickness is a dsease developed during a long period of stay in high altitudes. It is also known as Monge's disease. It can develop several years after living at a high place, and high places are defined to be at over 2500 meters above sea level. [read more]

  • common cold
    A common cold is characterized as an infection that affects the upper respiratory tract, throat and nose. This condition is usually harmless and is known to be self-limiting. There are about 200 viruses that are known to cause common colds, making this condition highly prevalent among adults and children alike. [read more]

  • Costello Syndrome
    An extremely rare disease with only 200 to 300 cases reported worldwide, Costello Syndrome is a genetic abnormality that slows down development and causes mental retardation. Patients share the same facial features, with loose skin and flexible joints, and are more prone to develop certain diseases like heart abnormalities, non-cancerous and cancerous tumors, and cell carcinoma. Individuals affected by this condition are relatively short and may possess lesser levels of growth hormones. [read more]

  • Cowden's disease
    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]

  • Craniosynostosis
    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]

  • Deerfly Fever
    Deerfly fever is otherwise known as Tularemia which is characterized by a rare and infectious disease that primarily attacks the eyes, skin and lungs. There are less than 200 reported cases of this disease annually, and is known to affect mostly the south-central and western states. Deerfly fever spreads through humans though a number of routes, including direct exposure and insect bites from an infected animal. [read more]

  • Fanconi's anemia
    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]

  • Francois Dyscephalic Syndrome
    Francois Dyscephalic Syndrome is also known as the Hallermann-Streiff syndrome and the Oculomandibulofacial Syndrome. This is a disorder which greatly affects one's body stature, the head structure, and also hair growth. Patients who suffer from this kind of condition are often shorter than average people. They may be unable to develop facial hair and hair in other places such as the legs and the pubic areas. Many others have persisting problems with teeth development with some only developing one set in a lifetime. [read more]

  • gaucher disease type 3
    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]

  • gaucher disease type 4
    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]

  • Gittings Syndrome
    Gittings or Gitelman Syndrome is an inherited defect in the distal convoluted tubule of the kidneys. [read more]

  • Gliosarcoma
    Gliosarcoma is a malignant cancer and a glioblastoma consisting of gliomatous and sarcomatous components. Most gliomas do not show metastases outside the cerebrum however gliosarcoma being a rare type of glioma, have propensity to do so and are most commonly spreading through the blood to the lungs and liver including the lymph nodes (Beumont et. al. (2007). "Gliosarcoma with multiple extracranial metastases: case report and review of the literature". J. Neurooncology 83: 39-46). [read more]

  • Glycogen storage disease type 1B
    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]

  • Glycosuria
    Glycosuria otherwise known as glucosuria is an osmotic diuresis due to excretion of too much glucose by the kidneys. [read more]

  • Gonadal Dysgenesis Turner Type
    Turner type Gonodal Dysgenesis, otherwise known as Turner Syndrome or Ullrich syndrome, is a condition wherein the monosomy of X chromosome is the most ommon, making the female sexual characteristics though present are generally underdeveloped. It is said to occur in about one out of every 2500 female birth (National Institutes of Health (2004). Clinical Features of Turner syndrome). [read more]

  • Goodpasture Pneumorenal Syndrome
    Goodpasture pneumorenal syndrome, otherwise known as Goodpasture's disease and anti -glomerular basement membrane disease is a condition wherein there is rapid destruction of the kidneys and hemorrhaging of the lungs. [read more]

  • Guanidinoacetate Methyltransferase Deficiency
    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]

  • Gymnophobia
    Gymnophobia is an abnormal, unfounded and persistent fear of nudity (Corsini, R., 2002, The Dictionary of Psychology, p. 722)` [read more]

  • Hageman Factor Deficiency
    Hageman factor deficiency is an uncommon hereditary disorder which is characterized by the low plasma protein known as factor XII. [read more]

  • Hantavirus Pulmonary Syndrome
    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]

  • Hartnup Disease
    Hartnup disease, also known as monkey disease or Hartnup's disorder, is an autosomal recessive disorder wherein the transport of neutral amino acids to the kidneys and small intestines is defective. Sufferers have a niacin deficiency as well as an inborn error of amino acid metabolism. [read more]

  • Hay-Wells Syndrome
    Hay-Wells syndrome otherwise known as ankyloblepharon-ectodermal dysplacia clefting syndrome is one of the type of ectodermal dysplasia (Index of Rare Diseases. National Organization for Rare Disorders. 20 Mar 2008). It thus affect tissues that arise from ectoderm especially that of the skin, hair and nails. [read more]

  • Hearing Impairment
    Hearing impairment refers to reduction in sensitivity to sounds, which may be accompanied by some loss in the ability to correctly interpret auditory stimuli even when amplified (Stolov, W., Clowers, M. 2000. Handbook of Sever Disability,p. 395) [read more]

  • Hearing Loss
    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]

  • Heavy Metal Poisoning
    Heavy metal poisoning is poisoning through ingestion of heavy metals such as common transition metal such as copper, lead and zinc. These metals are a cause of environmental pollution (A Dictionary of Chemistry. Oxford University Press, 2000. Oxford Reference Online.Oxford University Press). [read more]

  • Helminthiasis
    Helminthiasis is a medical condition wherein a part of the body is infested with worms such as the pinworm, roundworm or tapeworm. Said parasites resides and stay in the gastrointestinal tracts, the liver and other organs [read more]

  • Hemiplegia
    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
    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]

  • Hereditary hemochromatosis
    Hereditary hemochromatosis is a genetic disease that results to the body absorbing and storing too much iron. The condition gets its name from "hemo" for blood and "chroma" for color, alluding to the characteristic bronze skin tone that iron overload can cause. Someone with hereditary hemochromatosis who has never taken an iron supplement could find out in later years that iron overload is leading to serious health problems. [read more]

  • Hymenolepiasis
    Hymenolepiasis is infestation by one of two species of tapeworm: Hymenolepis nana and Hymenolepis diminuta. [read more]

  • ICF Syndrome
    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]

  • Ichthyophobia
    Ichthyophobia is a type of phobia characterized by a fear of fish, The term encompasses fear of fish in general or fear of a specific kind of fish. A phobia is defined as an irrational and intense fear of something or someone. [read more]

  • Kallman Syndrome with Spastic Paraplegia
    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]

  • Lymphangioleiomyomatosis
    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
    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
    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]

  • Lymphoblastic Lymphoma
    Lymphoblastic lymphoma is a rare medical condition that is considered as an uncommon form of aggressive Non-Hodgkin Lymphoma or NHL. [read more]

  • Lymphocytic Colitis
    Lymphocytic colitis a rare condition characterized by chronic non-bloody watery diarrhea. It is a subtype of miscroscopic colitis. [read more]

  • Lymphoma
    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]

  • Lymphosarcoma
    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]

  • Lysosomal Alpha-D-Mannosidase Deficiency
    Lysosomal alpha-D mannosidase deficiency is an autosomal recessive metabolic disorder that often causes mental and physical deterioration. [read more]

  • Lysosomal Disorder
    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]

  • Mac Ardle Disease
    Mac Ardle Disease, otherwise known as Glycogen Storage Disease Type V (GSD-V) is a kind of metabolic disorder due to the glycogen storage. It is the most common of the various type of GSD. (Wolfe, Gil I. et al. “McArdle's disease presenting with asymmetric, late-onset arm weakness.” Muscle & Nerve, 2000). [read more]

  • Macular Degeneration
    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]

  • Macular Degeneration Juvenile
    Macular degeneration juvenile is a medical condition which affects the center lining of the eye known as the Macula area of the retina of younger individuals. Its other term and example includes the Best's Disease, Doyne's honeycomb retinal dystrophy, Sorsby's Disease and Stargardt's Disease. It often leads to blindness (Roberts, DL (Sep 2006). "The First Year--Age Related Macular Degeneration". (Marlowe & Company). [read more]

  • Macular Degeneration, Age-Related
    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]

  • Macular Degeneration, Polymorphic
    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]

  • Mad Cow Disease
    Mad Cow Disease, otherwise known as Bovine Spongiform Encephalopathy (BSE) is a neurodegenerative diseases in cattle that cause a spongy degeneration in the brain and in the spinal cord. [read more]

  • Maffucci Syndrome
    Maffucci syndrome, named after Angelo Maffucci, is usually presented by multiple enchondromas associated with multiple cavernous soft tissue hemangiomas. [read more]

  • Mal De Debarquement
    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]

  • Malaria
    Malaria is a parasitic disease caused by mosquito bites, known as Anopheles Mosquitoes. It is one of the most common vector-borne infectious diseases in most tropical and sub-tropical regions in Asia, Africa, and some parts of Americas. [read more]

  • McCune-Albright Syndrome
    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]

  • Measles
    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]

  • MODY syndrome
    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]

  • Monge's disease
    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]

  • Monkeypox
    Monkeypox is a rare infectious disease caused by monkeypox virus. The disease is first identified in laboratory monkeys, giving it its name. The disease is more prevalent in Central and West Africa, but an outbreak occurred also in the United States in 2003. Monkeypox can be difficult to distinguish from mild smallpox and chickenpox. [read more]

  • Multiple myeloma
    Multiple myeloma is a disease known to have several names; these include MM, myeloma, plasma cell myeloma, or as Kahler's disease after Otto Kahler. It a type of cancer of plasma cells that serve as immune system cells in the bone marrow that produce antibodies. [read more]

  • Muscular dystrophy, facioscapulohumeral
    Facioscapulohumeral muscular dystrophy is an autosomal dominant from of muscular dystrophy that is also known as Landouzy-Dejerine. It initially affects the skeletal muscles of the face (facio), scapula (scapulo) and upper arms (humeral) and is the third most common genetic disease of skeletal muscle. [read more]

  • Myalgic encephalomyelitis
    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]

  • Nystagmus
    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]

  • Osteopenia
    Osteopenia is a condition where bone mineral density is lower than normal. It is considered by most doctors to be a precursor to osteoporosis. Moreover, not every person diagnosed with osteopenia will develop osteoporosis. Fractures usually experienced in the hip, spine, and wrist. [read more]

  • Pili Multigemini
    Pili multigemini, also compound hairs, is characterized by the growth of several hair fibers in one hair canal. From a single hair canal, several hair follicles combine and develop into the skin's surface. The disease is classified as rare with less than 200,000 affected in the US. There is likewise a dearth of information on the treatment of this disease. [read more]

  • Polyostotic Fibrous Dysplasia
    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]

  • Proximal Myotonic Myopathy
    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]

  • Respiratory Infection
    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]

  • Retinoblastoma
    Retinoblastoma pertains to cancer of the retina that affects children. If untreated, retinoblastoma is almost invariably fatal. [read more]

  • Ross River Virus Infection
    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]

  • Severe Acute Respiratory Syndrome
    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]

  • Severe Acute Respiratory Syndrome (SARS)
    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]

  • Susac's Syndrome
    Susac's syndrome (Retinocochleocerebral Vasculopathy) is a microangiopathy marked by encephalopathy, branch retinal artery occlusions and hearing loss. [read more]

  • Townes-Brocks Syndrome
    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]

  • Triple A Syndrome
    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]

  • Usher Syndrome 1C
    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]

  • Vater Association
    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
    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
    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 Fibrillation, Idiopathic
    Idiopathic Ventricular Fibrillation or V-fiB or VF, for brevity, is a term which is most frequently used to describe the occurrence of ventricular fibrillation in the intact heart (Aliot, E., Clement, J., Prystowsky, E. (2008). Fighting Sudden Cardiac Death: A World Wide Challenge, Blackwell Publishing, p.240). It is characterized by the uncoordinated contraction of the cardiac muscle of the ventricles located in the heart. It usually causes cessation of blood circulation which eventually leads to death. [read more]

  • Ventricular Septal Defect
    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
    Vernal keratoconjunctivitis is the recurrent, bilateral, interstitial inflammation of the conjunctive that occurs more frequently in warm or dry climates. [read more]

  • Vipoma
    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
    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
    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
    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
    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]

  • Vitamin E Deficiency
    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]

  • Vitamin E Familial Isolated, Deficiency
    Familial Isolated Vitamin E Deficiency which is synonymous to Ataxia with Vitamin E Deficiency or to isolated Vitamin E Deficiency is a rare and autosomal recessive neurodegenrative disease. It is an inherited neurodegenerative disorder that is often characterized by the inability to coordinate voluntary movements and disease of the peripheral nervous system. It is a progressive disorder. [read more]

  • Vitiligo
    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]

  • VKH
    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]

  • VLCAD Deficiency
    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]

  • Von Hippel-Lindau Disease
    Von Hippel-Lindau disease or VHL for brevity is a rare genetic condition which usually involves the unusual and abnormal growth of tumors in different parts of the body which is usually rich in blood supply. [read more]

  • Von Recklinghausen Disease
    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
    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]

  • Vulvodynia
    Vulvodynia is a medical condition which refers to the disorder which causes vulvar pain and discomfort. [read more]

  • Vulvovaginitis
    Vulvovaginitis is the infection of the vulva which may be accompanied with the inflammation of the vaginal mucosa. [read more]

  • Wagner's Disease
    Wagner's Disease is rare familial eye disease or disorder of the connective tissue in the eye that eventually causes blindness. It is frequently confused with the Sticler's syndrome but just lacks the feature of high incidence of retinal detachments. [read more]

  • Wagner-Stickler Syndrome
    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
    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]

  • Waldenstrom Macroglobulinemia
    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]

  • Wandering Spleen
    Wandering spleen otherwise known as the Pelvic spleen is a rare medical disease that is often linked to the loss or the weakening of the ligaments that help hold the spleen. [read more]

  • Warts
    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
    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]

  • Weaver Syndrome
    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-Christian Disease
    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
    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
    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]

  • Werdnig-Hoffman Disease
    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]

  • Werner's Syndrome
    Werner's Syndrome otherwise known as the Adult premature aging syndrome or the adult progeria, is a rare genetic disorder which can be inherited as an autosomal recessive trait. Its signs and symptoms of the disorder may only be manifest usually during the third and fourth decade of life. [read more]

  • West Nile Virus
    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
    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]

  • Western Equine Encephalitis
    Western equine encephalitis or WEE is a viral disease which is caused by western equine encephalitis virus which is an arbovirus that is transmitted by mosquitoes of the genre Culex and Culiseta (Ryan KJ; Ray CG (editors) (2004). Sherris Medical Microbiology, 4th ed., McGraw Hill). [read more]

  • Westphall Disease
    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
    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
    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
    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 (Pertussis)
    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]

  • Willebrand Disease, Acquired
    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
    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
    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]

  • Wilson's Disease
    Wilson's disease or hepatolenticular degeneration is said to be an autosomal recessive genetic disorder wherein there is accumulation of copper in the tissues and manifest itself with neurilogical symptoms and liver disease. [read more]

  • Woodhouse Sakati Syndrome
    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]

  • Worster-Drought Syndrome
    Worster-Drought syndrome otherwise known as the congenital suprabulbar paresis, is a kind of cerebral palsy which primarily affects the bulbar muscles which in turn, causes problems with the mouth and tongue including impairment in swallowing. [read more]

  • X-Linked Mental Retardation And Macroorchidism
    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]

  • Xanthine Oxydase Deficiency
    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
    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]

  • Xeroderma Pigmentosum
    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]

  • Xerophthalmia
    Xerophthalmia, a Greek term used to refer to Dry Eyes, is a condition whereby there is an unusal failure of the eye to produce tears. [read more]

  • Y Chromosome Deletions
    Y chromosome microdeletion or YCM for brevity is a genetic disorder that is caused by missing gene in the chromosome Y. [read more]

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