Stickler syndrome (Q64844): Difference between revisions
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A síndrome de Stickler é uma vitreorretinopatia hereditária caracterizada pela associação de sinais oculares com formas mais ou menos completas da sequência de Pierre-Robin, transtornos ósseos e surdez neurossensorial. Os transtornos oculares podem incluir catarata juvenil, miopia, estrabismo, degeneração coriorretiniana ou vitreorretiniana, descolamento de retina e uveíte crônica. As anomalias ósseas incluem platispondilia moderada e epífises grandes, frequentemente anormais. A frouxidão articular juvenil é seguida de sinais precoces de artrose. | |||
| description / en | description / en | ||
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. | |||
Revision as of 12:33, 14 August 2026
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 |
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| 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. |
