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hypochondroplasia

Pronunciation: hi'po-kon'dro-pla'ze-a

Definition: A skeletal dysplasia characterized by dwarfism with features similar to but much milder than achondroplasia; the cranium and facies are normal; features not clinically evident until mid-childhood. Autosomal dominant inheritance, caused in some cases by mutation in the fibroblast growth factor receptor 3 (FGFR3) gene on chromosome 4p.

[hypo- + G. chondros, cartilage, + plasis, a molding]

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