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GTR Home > Conditions/Phenotypes > Otospondylomegaepiphyseal dysplasia, autosomal dominant

Otospondylomegaepiphyseal dysplasia, autosomal dominant

Synonyms
COL11A2-Related Stickler Syndrome; Pierre Robin syndrome with fetal chondrodysplasia; Stickler syndrome nonocular type; Stickler syndrome, type 3; Weissenbacher-Zweymuller syndrome
Modes of inheritance
Autosomal dominant inheritance (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 Pierre Robin sequence); and early-onset degenerative joint disease. 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
Chapter Notes
References
Authors:
Geert Mortier
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Available tests

93 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (93 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DFNA13, DFNB53, FBCG2, HKE5, OSMEDA, OSMEDB, PARP, STL3, COL11A2
    Summary: collagen type XI alpha 2 chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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