Cartilage–hair hypoplasia

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Cartilage–hair hypoplasia (pronunciation: kahr-til-ij-hair-hahy-poh-plee-uh) is a rare genetic disorder characterized by short stature, sparse hair, and impaired immune function.

Etymology

The term "Cartilage–hair hypoplasia" is derived from the three main features of the disorder: abnormal development of cartilage (cartilage), sparse or fine-textured hair (hair), and underdevelopment or smallness (hypoplasia).

Symptoms

The primary symptoms of Cartilage–hair hypoplasia include short stature, sparse hair, and immune deficiency. Other symptoms may include anemia, gastrointestinal problems, and an increased risk of cancer.

Causes

Cartilage–hair hypoplasia is caused by mutations in the RMRP gene. This gene provides instructions for making a molecule that is involved in the production of RNA, a chemical cousin of DNA.

Diagnosis

Diagnosis of Cartilage–hair hypoplasia is based on physical examination, medical history, and laboratory tests. Genetic testing can confirm the diagnosis.

Treatment

Treatment for Cartilage–hair hypoplasia is symptomatic and supportive. It may include growth hormone therapy, immunoglobulin therapy, and bone marrow transplant.

Prognosis

The prognosis for individuals with Cartilage–hair hypoplasia varies. Some individuals have a normal lifespan with few complications, while others may have serious health problems and a shortened lifespan.

See also

External links

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