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Stickler syndrome/COL11A2 mutation associated (type 3)
non-ocular form of Stickler syndrome
Genetics:
- autosomal dominant
- associated with defects in COL11A2
Clinical manifestations:
- ocular symptoms are absent in Stickler syndrome type 3
- classical Stickler syndrome 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
- juvenile joint laxity is followed by early signs of arthrosis
- sensorineural deafness
- the degree of hearing loss varies among affected individuals & may become more severe over time
- syndrome expressivity is variable
Database Correlations
OMIM 184840
References
OMIM :accession 184840