Aarskog Syndrome
A genetic disorder marked by distinctive physical abnormalities. Alagille Syndrome
A multi-system hereditary disorder which affects the liver, heart, and spine.
Allan Herndon Syndrome
An inherited disorder that may be characterized by severe mental retardation, an impaired ability to form words and speak clearly, diminished muscle tone, and/or movement abnormalities. Bardet Biedl Syndrome/Laurence Moon Synd
A genetic disorder of chromosomes 16, 3, and 15 which causes progressive blindness, obesity, extra fingers and toes, and mental retardation. Cockayne Syndrome
A rare inherited disorder in which people are sensitive to sunlight, have short stature and the appearance of premature aging. Cornelia de Lange Syndrome (CDLS)
Syndrome characterized by facial and upper limb malformations and behavioral problems. Cystic Fibrosis
Cystic fibrosis is a hereditary disorder that causes accumulation of thick mucus in the body and abnormal sweating. Find links here for information, resources, and support. Filippi Syndrome
An inherited birth defect that results in unusual facial appearance, abnormalities of fingers and toes, and mild to severe mental retardation. Kabuki Syndrome
A disorder characterized by mental retardation, short stature, unusual facial features, and abnormalities of the skeleton. Klippel-Trenaunay Syndrome
A syndrome characterized by abnormal benign growths of blood vessels on the skin (hemangiomas, port wine stain, or nevus flammeus), excessive growth (hypertrophy) of the soft tissue and bone of a leg or arm, and varicose veins.
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