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hereditary progressive arthroophthalmopathy

 

Definition: a skeletal dysplasia associated with multiple dysplasia of the epiphyses, overtubulation of long bones with metaphysial widening, flattened vertebral bodies, pelvic bone abnormalities, hypermobility of joints, cleft palate, progressive myopia, retinal detachment, and deafness. Autosomal dominant inheritance caused by mutation in either the COL2A1 gene on 12q, COL11A1 gene on 1p or COL11A2 gene on 6p.

Synonym(s): Stickler syndrome

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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