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]
NIH genetic and rare disease info[edit source]
Cartilage hair hypoplasia is a rare disease.
 | This medical article is a stub. You can help WikiMD by expanding it. |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
