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cartilage-hair hypoplasia


Definition: a skeletal dysplasia prevalent among the Amish, characterized by short-limb dwarfism, sparse, light-colored hair, T-cell immunologic defect rendering them susceptible to infections and radiographic findings of metaphysial dysplasia. Autosomal recessive inheritance, caused by mutation in the gene RMPR on 9p.

Synonym(s): McKusick metaphysial dysplasia

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