What does CHH mean in HUMAN GENOME

Cartilage-Hair Hypoplasia (CHH) is a rare disorder that affects many parts of the body. It is caused by an inherited mutation in the RMRP gene, located on chromosome 9.

People with an inherited mutation in the RMRP gene are at risk for developing CHH. The mutation can be passed from parent to child or occur randomly in some individuals with no known family history of the disease.

Symptoms of CHH vary from person to person but generally include short stature, skeletal abnormalities, sparse hair, immune system problems, and intellectual disabilities. In severe cases, seizures may also occur.

Diagnosis of CHH usually involves a combination of physical examination and genetic testing. During a physical exam, your doctor may look for signs such as skeletal abnormalities or low muscle tone that could indicate CHH. Genetic testing can confirm a diagnosis if it shows a mutation in the RMRP gene.

There is no cure for CHH, but treatment can help manage symptoms and improve quality of life. Treatment plans typically involve medications and therapies to manage physical disabilities and intellectual disabilities as well as addressing other medical conditions that might arise due to weakened immunity or other conditions associated with CHH.