A rare autosomal-dominant congenital disorder characterized by craniofacial deformities.

A condition caused by occlusion of the hepatic veins that drain the liver, presenting with abdominal pain, ascites and hepatomegaly.

A rare disorder involving cerebellar ataxia, mental retardation, congenital cataracts in early childhood, muscle weakness, inability to chew food, brittle fingernails, and sparse hair.

A partial paralysis of the face, pharynx and jaw caused by bilateral damage to the operculum.

fibrodysplasia ossificans progressiva

(medical genetics) A genetic disorder that results in small, poorly developed nails, kneecaps, and other body parts.

pine mouth

congenital adrenal hyperplasia

Cockayne syndrome

A rare progeroid syndrome characterized by the appearance of premature aging.