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.

Check Associated genes and Related conditions for additional relevant tests.

Associated genes

Clinical features

  • 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
Show all (20)

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk