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Stickler syndrome

ORPHA828
Synonym(s) Hereditary progressive arthroophthalmopathy
Prevalence 1-9 / 1 000 000
Inheritance Autosomal dominant
or Autosomal recessive
Age of onset Childhood
ICD-10
  • Q87.5
OMIM
UMLS
  • C0265253
MeSH
  • C537492
MedDRA
  • 10063402

Summary

Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence (see this term), bone disorders, and sensorineural deafness (10% of cases). Incidence at birth has been estimated at around 1/7,500. 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. The syndrome generally appears to be transmitted in an autosomal dominant manner and is genetically heterogeneous. Stickler syndrome type 1 is caused by mutations in the COL2A1 gene (12q13.11-q13.2), Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21) and Stickler syndrome type 3 (without ocular signs; see this term) is caused by mutations in the COL11A2 gene (6p21.3). An autosomal recessive form of Stickler syndrome associated with mutations in the COL9A1 (6q12-q14) gene has also been reported in a Moroccan family. Diagnosis is made on the basis of the clinical picture and can be confirmed by molecular analysis. Prenatal diagnosis is feasible for families in which the disease-causing mutation has been identified. Management should be multidisciplinary and as clinical expression is very variable, treatment needs to be adapted to each case. Prognosis depends on the severity of the signs present.

Expert reviewer(s)

  • Dr Martine LE MERRER

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Detailed information

Summary information
Clinical genetics review
  • EN (2014)
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