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Stickler syndrome

Disease definition

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).

ORPHA:828

  • Synonym(s):
    • Hereditary progressive arthroophthalmopathy
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q87.0
  • OMIM: 108300  604841  609508  614134  614284
  • UMLS: C0265253
  • MeSH: C537492
  • GARD: 10782
  • MedDRA: 10063402

Detailed information

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