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Stickler syndrome or hereditary progressive arthroophthalmopathy
Epidemiology:
- incidence: 0.01%
Genetics:
associated with mutations in various collagen genes
- COL2A1
- COL11A1
- COL11A2
- COL9A1 (autosomal recessive)
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
Specific
Stickler syndrome type 1
Stickler syndrome/COL11A1 mutation associated (type 2)
Stickler syndrome/COL11A2 mutation associated (type 3)
Stickler syndrome/COL9A1 mutation associated
Stickler syndrome/COL9A2 mutation associated (type 5)
General
eye disease (ophthalmopathy)
genetic syndrome (multisystem disorder)
joint disease; articular disease; arthropathy
osteochondrodysplasia
Database Correlations
OMIM 108300
References
- Harrison's Principles of Internal Medicine, 14th ed.
Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2191-92
- OMIM 108300
- Stickler syndrome
http://ghr.nlm.nih.gov/condition=sticklersyndrome