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GTR Home > Conditions/Phenotypes > Stickler syndrome type 2

Stickler syndrome type 2

Synonyms
COL11A1-Related Stickler Syndrome; STICKLER SYNDROME, BEADED VITREOUS TYPE; STICKLER SYNDROME, TYPE II; STICKLER SYNDROME, VITREOUS TYPE 2; STL 2
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

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. [from GeneReviews]

Available tests

87 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (87 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CO11A1, COLL6, DFNA37, STL2, COL11A1
    Summary: collagen type XI alpha 1 chain

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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