Stickler syndrome is a clinically variable and genetically heterogeneous disorder characterized by ocular, auditory, skeletal, and orofacial abnormalities. Stickler Syndrome Type I is an autosomal dominant condition and mutations in the COL2A1 gene have been identified. OMIM: 108300
Also Known As:
Stickler syndrome, type 1; Arthroophthalmopathy, hereditary progressive; Hereditary Arthro-Ophthalmo-Dystrophy; Hereditary Arthro-Ophthalmopathy; Stickler Dysplasia; Stickler Syndrome; Stickler Syndrome, Type I; Stickler syndrome, membranous vitreous type; Stickler syndrome, vitreous type 1