Cartilage–hair hypoplasia

Cartilage-hair hypoplasia
Other namesMcKusick type metaphyseal chondrodysplasia[1]: 578 
Cartilage-hair hypoplasia has an autosomal recessive pattern of inheritance
Pronunciation
  • /ˌkɑːrtɪlɪdʒ ... ˌhaɪpoʊˈpleɪʒə/
SymptomsShort limb dwarfism
Very fine thin light hairs and eyebrows
Hyperextensible joints of hand and feet
Abnormalities of spine
Neutropenia
Defective antibody and cell mediated immunity

Cartilage–hair hypoplasia (CHH) is a rare genetic disorder. Symptoms may include short-limbed dwarfism due to skeletal dysplasia, variable level of immunodeficiency, and predisposition to cancer. It was first reported by Victor McKusick in 1965.

  1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology(10th ed.). Saunders. ISBN 0-7216-2921-0.
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