What is cartilage-hair hypoplasia (CHH)?

Updated: Aug 06, 2019
  • Author: Alan P Knutsen, MD; Chief Editor: Harumi Jyonouchi, MD  more...
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Cartilage-hair hypoplasia (CHH), which is Online Mendelian Inheritance in Man (OMIM) disease number 250250, is an autosomal recessive inherited disorder that results in short-limb dwarfism associated with T-cell and B-cell immunodeficiency. [1] Cartilage-hair hypoplasia and other short-limb dwarfism phenotypes are associated with metaphyseal or spondyloepiphyseal dysplasia. Cartilage-hair hypoplasia is a variant of short-limb dwarfism in which fine sparse hair is also present.

The immunodeficiency in cartilage-hair hypoplasia may be an isolated T-cell immunodeficiency, isolated B-cell immunodeficiency, or combined T-cell and B-cell immunodeficiency.

Although originally described by McKusik et al in 1964 in Amish children and known as metaphyseal chondrodysplasia McKusick type, cartilage-hair hypoplasia has been described in non-Amish persons throughout the United States, Europe, and Mexico. [2] The genetic defect in cartilage-hair hypoplasia has been confirmed to be mutations in the RMRP gene. [3]

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