DISEASES

Disease-gene associations mined from literature

Human genes for Stickler syndrome

Stickler syndrome [DOID:0080046]

Stickler syndrome is a group of genetic disorders affecting connective tissue, specifically collagen. It was first studied and characterized by Gunnar B. Stickler in 1965. Stickler syndrome is a subtype of collagenopathy, types II and XI. Stickler syndrome is characterized by distinctive facial abnormalities, eye problems, hearing loss, and joint problems

Synonyms:  Stickler syndrome,  DOID:0080046,  Stickler disease,  Stickler disorder