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Features include always present findings: Astigmatism, Pes valgus, Internal tibial torsion, and Inner ear hearing loss (sensorineural hearing impairment) and others; and common findings: Downslanted palpebral fissures, Midface retrusion, High myopia, and Depressed nasal bridge and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 2 | Depressed nasal bridge, Intellectual disability |
COL9A3 encodes collagen type IX alpha 3 chain (684 aa). Structural component of hyaline cartilage and vitreous of the eye Highest expression in Nerve Tibial (105.5 TPM) and Brain Spinal cord cervical c-1 (102.2 TPM).
Stickler syndrome, type 6 is associated with mutations in the COL9A3 gene on chromosome 20.
COL9A3 is classified as a druggable target (Druggable Genome category) with score 2.2.
Genetic testing for COL9A3 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Stickler syndrome, type 6 has been reported in the published literature.
Phenotype severity distribution: 6 always present features, 6 common features.
No clinical trials have been registered for Stickler syndrome, type 6.
19 publications have been identified in PubMed for Stickler syndrome, type 6. Research spans Case Report / Case Series (47%), Review / Meta-Analysis (21%), and Diagnostic / Biomarker (16%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 9 | 47% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:50 AM UTC
Online Mendelian Inheritance in Man
Common questions about Stickler syndrome, type 6
Ears |
1 |
Inner ear hearing loss (sensorineural hearing impairment) |
Eyes | 1 | Ptosis |
4 |
21% |
Testing and diagnosis research | 3 | 16% |
Disease patterns and progression | 2 | 11% |
Other research | 1 | 5% |
Britten-Jones AC (2026). [PMID: 41856555](https://pubmed.ncbi.nlm.nih.gov/41856555/). *J Med Genet*. [Diagnostic / Biomarker]
Constant A (2026). [PMID: 40930209](https://pubmed.ncbi.nlm.nih.gov/40930209/). *Am J Ophthalmol*. [Review / Meta-Analysis]
Alsharif FR (2026). [PMID: 41110602](https://pubmed.ncbi.nlm.nih.gov/41110602/). *Ophthalmol Retina*. [Review / Meta-Analysis]
Drackley A (2025). [PMID: 39675476](https://pubmed.ncbi.nlm.nih.gov/39675476/). *Ophthalmol Retina*. [Case Report / Case Series]
Camp DA (2025). [PMID: 40370211](https://pubmed.ncbi.nlm.nih.gov/40370211/). *Acta Ophthalmol*. [Review / Meta-Analysis]
He W (2025). [PMID: 40763965](https://pubmed.ncbi.nlm.nih.gov/40763965/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Review / Meta-Analysis]
Fábrega-Torrano M (2025). [PMID: 40727136](https://pubmed.ncbi.nlm.nih.gov/40727136/). *Indian J Otolaryngol Head Neck Surg*. [Other]
Chen TH (2025). [PMID: 39424914](https://pubmed.ncbi.nlm.nih.gov/39424914/). *Eye (Lond)*. [Case Report / Case Series]
Yuan MZ (2025). [PMID: 40605304](https://pubmed.ncbi.nlm.nih.gov/40605304/). *Zhonghua Yan Ke Za Zhi*. [Diagnostic / Biomarker]
Boysen KB (2025). [PMID: 41250836](https://pubmed.ncbi.nlm.nih.gov/41250836/). *Acta Ophthalmol*. [Epidemiology / Natural History]