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GTR Home > Conditions/Phenotypes > Stickler syndrome, type 4

Stickler syndrome, type 4

Synonyms
COL9A1-Related Stickler Syndrome
Modes of inheritance
Autosomal recessive 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

37 tests are in the database for this condition.

Clinical tests (37 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DJ149L1.1.2, EDM6, MED, STL4, COL9A1
    Summary: collagen type IX alpha 1 chain

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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