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Cartilage–hair hypoplasia
Medical condition
| 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 |
Cartilage–hair hypoplasia (CHH) is a rare genetic disorder.
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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.
Signs and symptoms
- Short limb dwarfism
- Very fine, light hairs and eyebrows
- Hyperextensible joints of hand and feet
- Abnormalities of spine
- Neutropenia
- Defective antibody and cell mediated immunity
Genetics
CHH is an autosomal recessive[2] inherite