Stickler syndrome (Q64844)
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Stickler syndrome is an inherited vitreoretinopathy characterised by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Bone anomalies include mild platyspondyly and large, often abnormal, epiphyses. Juvenile joint laxity is followed by early signs of arthrosis.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_246271691 |
||
| English | Stickler syndrome |
Stickler syndrome is an inherited vitreoretinopathy characterised by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Bone anomalies include mild platyspondyly and large, often abnormal, epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. |
Statements
CID11:ID_246271691
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