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

Stickler syndrome, type 2

Synonyms
COL11A1-Related Stickler Syndrome; STICKLER SYNDROME, TYPE II; STL 2; Stickler syndrome, beaded vitreous type; Stickler syndrome, vitreous type 2
Modes of inheritance
Autosomal dominant inheritance (HPO, OMIM, Orphanet)

Summary

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.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Nathaniel H Robin
Rocio T Moran
Leena Ala-Kokko
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Available tests

62 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (62 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

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

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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