Stickler syndrome, type 5
- Synonyms
- COL9A2-Related Stickler Syndrome
- Modes of inheritance
- Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Summary
Excerpted from the GeneReview: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
33 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (33 available)
Clinical features
Help- Congenital anomaly of eye
- Retinal detachment
Retinal detachment
- MedGen UID: 19759
- Concept ID: C0035305
- Finding: Disease or Syndrome
Congenital anomaly of eye
- Severe Myopia
Severe Myopia
- MedGen UID: 78759
- Concept ID: C0271183
- Finding: Disease or Syndrome
Congenital anomaly of eye
- Vitreoretinal degeneration
Vitreoretinal degeneration
- MedGen UID: 87480
- Concept ID: C0344290
- Finding: Disease or Syndrome
Congenital anomaly of eye
- Retinal detachment
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