Cartilage hair hypoplasia
Cartilage hair hypoplasia (CHH) is a rare genetic disorder characterized by short stature, sparse hair, and impaired immune function. It is a type of dwarfism that affects both the skeletal system and the immune system.
Overview[edit | edit source]
CHH is caused by mutations in the RMRP gene. This gene provides instructions for making a molecule that is involved in the production of ribosomes, the cell's protein factories. Mutations in the RMRP gene disrupt the normal function of ribosomes, leading to the characteristic features of CHH.
Symptoms[edit | edit source]
The most common symptoms of CHH include short stature, sparse hair, and a weakened immune system. Other symptoms can include anemia, gastrointestinal problems, and an increased risk of certain types of cancer. The severity of symptoms can vary widely among individuals with CHH.
Diagnosis[edit | edit source]
Diagnosis of CHH is based on the presence of characteristic physical features and confirmed by genetic testing. Genetic testing can identify mutations in the RMRP gene that cause CHH.
Treatment[edit | edit source]
There is currently no cure for CHH. Treatment is focused on managing symptoms and preventing complications. This can include growth hormone therapy to increase height, immunotherapy to boost the immune system, and regular monitoring for signs of anemia and cancer.
Research[edit | edit source]
Research into CHH is ongoing. Scientists are studying the RMRP gene and its role in ribosome function in an effort to better understand the disease and develop new treatments.
See also[edit | edit source]
Template:Genetic disorder Template:Dwarfism
NIH genetic and rare disease info[edit source]
Cartilage hair hypoplasia is a rare disease.
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