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Stickler syndrome/COL11A1 mutation associated (type 2)
Genetics:
- autosomal dominant
- mutation in COL11A1 gene
Clinical manifestations:
- associates ocular signs with
- more or less complete forms of Pierre Robin sequence
- bone disorders
- bones are affected by slight platyspondylisis & large, often defective epiphyses
- sensorineural deafness
- the degree of hearing loss varies among affected individuals & may become more severe over time
- ocular signs may include
- juvenile cataract
- myopia, strabismus
- vitreoretinal or chorioretinal degeneration
- retinal detachment,
- chronic uveitis
- juvenile joint laxity is followed by early signs of arthrosis
- syndrome expressivity is variable
Database Correlations
OMIM 604841
References
OMIM :accession 604841