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Stickler syndrome type 1
Genetics:
- autosomal dominant
- mutation in COL2A1 gene
Clinical manifestations:
- ocular signs
- juvenile cataract
- myopia
- strabismus,
- vitreoretinal or chorioretinal degeneration
- retinal detachment
- chronic uveitis
- bone disorders & sensorineural deafness.
- Robin sequence includes
- cleft palate
- macroglossia
- micrognathia
- bones are affected by slight platyspondylisis & large, often defective epiphysis
- juvenile joint laxity is followed by early signs of arthrosis
- the degree of hearing loss varies among patients & may become more severe over time
- syndrome expressivity is variable
Database Correlations
OMIM correlations
References
OMIM :accession 108300