Cartilage–hair hypoplasia
Medical condition / From Wikipedia, the free encyclopedia
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.
This article needs additional citations for verification. (May 2018) |
Quick Facts Other names, Pronunciation ...
Cartilage-hair hypoplasia | |
---|---|
Other names | McKusick type metaphyseal chondrodysplasia[1]: 578 |
Cartilage-hair hypoplasia has an autosomal recessive pattern of inheritance | |
Pronunciation | |
Symptoms | Short 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 |
Close