2000年6月9日 · Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Pierre Robin sequence); and early-onset degenerative joint disease.

2019年4月25日 · Stickler syndrome, COL2A1-related, is one of the milder and more frequent type II collagen disorders [Barat-Houari et al 2016b, Barat-Houari et al 2016c], and the most common type of Stickler syndrome. It shows remarkable inter- and intrafamilial phenotypic variation, with severity ranging from involvement of many organs to milder phenotypes ...

Stickler Syndrome is a multisystem collagenopathy with significant genetic and phenotypic heterogeneity. Affected individuals may exhibit ocular abnormalities, hearing loss, craniofacial abnormalities, and skeletal abnormalities.

2023年9月7日 · Clinical characteristics: Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Pierre Robin sequence); and early-onset degenerative joint ...

Stickler syndrome is an inherited connective tissue disorder most commonly caused by mutations in the genes encoding collagen types II (COL2A1, 12q13.11), IX (COL9A1, 6q13; COL9A2, 1p34.2; COL9A3, 20q13.33), and XI (COL11A1, 1p21.1), but rarer non-collagen gene variants have been reported.

For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use. For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer. For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda. Review Loeys-Dietz Syndrome. [GeneReviews (®). 1993]

2020年8月27日 · Stickler Syndrome (SS) is a multisystem collagenopathy frequently encountered by ophthalmologists due to the high rate of ocular complications. Affected individuals are at significantly increased risk for retinal detachment and blindness, and early detection and diagnosis are critical in improving v …

Stickler syndrome is an autosomal dominant disorder with characteristic ophthalmological and orofacial features, deafness, and arthritis. Abnormalities of vitreous gel architecture are a pathognomonic feature, usually associated with high myopia which is congenital and non-progressive. There is a substantial risk of retinal detachment.

Stickler Syndrome (SS) is a significant cause of retinal blindness in children. The immediate cause of blindness is retina detachment from giant retinal tear (GRT). It is frequently diagnosed late and the giant retinal tear (GRT) may be complicated by high-grade proliferative vitreoretinopathy (PVR).

2011年9月16日 · Stickler syndrome comprises a group of relatively common inherited connective tissue disorders associated with a very high risk of rhegmatogenous retinal detachment.