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Stickler syndrome

Disease definition

A rare group of genetic connective tissue disorders characterized by ophthalmic, auditory, orofacial and articular manifestations. The two main clinical forms are clinically distinguished by the vitreous phenotype; stickler type 1 by a vestigial vitreous gel in the immediate retrolental space, bordered by a distinct folded membrane, and Stickler type 2 by sparse and irregularly thickened bundles of fibers throughout the vitreous cavity.

ORPHA:828

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

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.