Cartilage hair hypoplasia
Cartilage Hair Hypoplasia (pronounced: kahr-til-ij hair hi-poh-pley-zhuh) 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: "Cartilage" refers to the type of tissue affected, "Hair" refers to one of the physical manifestations, and "Hypoplasia" (from the Greek words 'hypo' meaning 'under' and 'plasis' meaning 'formation') refers to the underdevelopment or incomplete development of a tissue or organ.
Symptoms
The primary symptoms of Cartilage Hair Hypoplasia include short stature, sparse and light-colored hair, and a range of immune system problems. Some people with this condition may also have bone abnormalities, such as unusually short arms and legs (short-limbed dwarfism) and bowing of the legs.
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. Mutations in the RMRP gene disrupt the normal development of cartilage and hair, leading to the characteristic features of this disorder.
Diagnosis
Diagnosis of Cartilage Hair Hypoplasia is based on physical examination, medical history, and genetic testing. The genetic test involves analyzing a sample of blood for mutations in the RMRP gene.
Treatment
There is currently no cure for Cartilage Hair Hypoplasia. Treatment is focused on managing the symptoms and may include growth hormone therapy to increase height, physical therapy to improve mobility, and immunosuppressive therapy to boost the immune system.
See Also
External links
- Medical encyclopedia article on Cartilage hair hypoplasia
- Wikipedia's article - Cartilage hair hypoplasia
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