The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness.
The Stickler syndrome is a newly recognized, but probably relatively frequent inherited generalized connective tissue disorder involving skeleton, eye, and oro-facial structures. A family with three affected generations is discussed. Severe myopia leading to blindness, cleft palate, or subnucous cleft, Pierre Robin anomaly, premature degenerative arthritis, or a family history of any of these indicates further evaluation.
D000328:Adult; D001766:Blindness / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities; D002675:Child, Preschool; D002972:Cleft Palate / Q000235:genetics*; D005145:Face; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009216:Myopia / Q000235:genetics; D010855:Pierre Robin Syndrome / Q000235:genetics; D013577:Syndrome