Cartilage–hair hypoplasia
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.
| Cartilage-hair hypoplasia | |
|---|---|
| Other names | McKusick type metaphyseal chondrodysplasia: 578 |
| Cartilage-hair hypoplasia has an autosomal recessive pattern of inheritance | |
| Pronunciation |
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| 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 |
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