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Stickler syndrome/COL9A1 mutation associated
Genetics:
- autosomal recessive
- associated with defects in COL9A1
Clinical manifestations:
- associates ocular signs with
a) more or less complete forms of Pierre Robin sequence
b) bone disorders
c) sensorineural deafness
- ocular disorders may include
a) juvenile cataract
b) myopia
c) strabismus
d) vitreoretinal degeneration or chorioretinal degeneration
e) retinal detachment
f) chronic uveitis
- bones are affected by slight platyspondylisis & large, often defective epiphyses
- juvenile joint laxity is followed by early signs of arthrosis
- the degree of hearing loss varies among affected individuals & may become more severe over time
- syndrome expressivity is variable
Database Correlations
OMIM 614134
References
OMIM :accession 614134