11 results found for "syndactyly"
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]
Apert syndrome is a congenital disorder commonly known as ?acrocephalosyndactyly?. This disorder is classified as a ?branchial arch syndrome?, which affects the first branchial arch, responsible for the maxilla and mandible. Apert syndrome causes lasting and widespread effects to individuals because branchial arches are important in the fetus development. [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]
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]
Hypothalamic hamartoblastoma syndrome, also known as Pallister-Hall syndrome syndrome, is a disease characterized by an abnormal growth in the brain known as hypothalamic hamartoma. Hypothalamic hamartoblastoma syndrome affects many parts of the body but does not pose serious complications most of the time. While the growths often do not cause any health problems they sometime lead to seizures and other life-threatening conditions. Some individuals with this disease have an obstruction in their anal opening, malformation of their airways and even kidney abnormalities. [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]
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]
Pterygium Popliteal Lethal Type is a severe form of popliteal pterygium syndrome in which affected individuals often die at the neonatal or intrauterine stages. It is also known as Bartsocas-Papas syndrome. [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]
Sakati syndrome encompasses a group of rare genetic diseases collectively known as Acrocephalopolysyndactyly or ACPS. Sakati syndrome, along with all known types of ACPS, is characterized by the premature closure of the cranial sutures (fibrous joints) between certain bones of the skull. This premature closure, known as craniosynostosis, leads to: acrocephaly (pointed appearance of the top of the head); syndactyly (webbing or fusion) of digits; and appearance of more than normal digits (polydactyly). In addition, Sakati syndrome is linked to defects in the bones of the legs, congenital heart defects, as well as other complications. The disease is speculated to develop as a consequence of a sporadic mutation that occurs randomly for unknown reasons. [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]