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Stickler syndrome, type 1 [Supplementary Concept]

Stickler syndrome is a clinically variable and genetically heterogeneous disorder characterized by ocular, auditory, skeletal, and orofacial abnormalities. Stickler Syndrome Type I is an autosomal dominant condition and mutations in the COL2A1 gene have been identified. OMIM: 108300

Date introduced: August 25, 2010

MeSH Unique ID: C537492

Heading Mapped to:

Entry Terms:

  • Stickler syndrome, membranous vitreous type
  • Arthroophthalmopathy, hereditary progressive
  • Stickler Dysplasia
  • Stickler Syndrome
  • Hereditary Arthro-Ophthalmo-Dystrophy
  • Hereditary Arthro-Ophthalmopathy
  • Stickler syndrome, vitreous type 1
  • Stickler Syndrome, Type I

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