Disease - Stickler syndrome 1 non-syndromic ocular
Definition
An autosomal dominant form of Stickler syndrome characterized by the ocular signs typically seen in Stickler syndrome type 1 such as cataract, myopia, retinal detachment. Systemic features of premature osteoarthritis, cleft palate, hearing impairment, and craniofacial abnormalities are either absent or very mild.
Acronym
STL1O
Synonyms
Stickler syndrome atypical
Stickler syndrome predominantly ocular
Wagner syndrome 2
Stickler syndrome predominantly ocular
Wagner syndrome 2
Keywords
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