GTR Home > Conditions/Phenotypes > Stickler syndrome, type 2

Disease characteristics

Excerpted from the GeneReview: Stickler Syndrome
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 Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.

Available tests

24 tests are in the database for this condition. Compare labs offering these tests.

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Associated genes

Clinical features

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  • Arachnodactyly
  • Anteverted nares
  • Opacification of the corneal stroma
  • Long fingers
  • Malar flattening
  • Micrognathia
  • Cataract
  • Glaucoma
  • Retinal detachment
  • Cleft palate
  • Bifid uvula
  • Pierre-Robin sequence
  • Sensorineural hearing impairment
  • Retinopathy
  • Myopia
  • Joint hypermobility
  • Spondyloepiphyseal dysplasia
  • Arthropathy
  • Abnormality of the vitreous humor
  • Depressed nasal bridge
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