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pseudoachondroplasia

Pronunciation: su'do-a-kon'dro-pla'se-a

Definition: A skeletal dysplasia characterized by short-limb dwarfism with leg deformities associated with genu varum or genu valgum and ligamentous laxity, allowing the joints to telescope; normal appearing head and face. Autosomal dominant inheritance [MIM*177150 and MIM*177170] caused by mutation in the cartilage oligomeric matrix protein gene (COMP) on 19p.

Synonym(s): pseudoachondroplastic spondyloepiphysial dysplasia

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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