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GTR Home > Conditions/Phenotypes > Stickler syndrome type 1

Stickler syndrome type 1

Synonyms
Arthroophthalmopathy, hereditary progressive; COL2A1-Associated Stickler Syndrome; COL2A1-Related Stickler Syndrome; Stickler syndrome, membranous vitreous type; Stickler syndrome, vitreous type 1
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
view full author information

Available tests

68 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (68 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ANFH, AOM, COL11A3, SEDC, STL1, COL2A1
    Summary: collagen type II alpha 1 chain

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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