How do I know if I have Cartilage-hair hypoplasia (CHH)?

Cartilage-hair hypoplasia (CHH) is a rare genetic disorder that affects the development of cartilage and hair in the body. It is characterized by short stature, skeletal abnormalities, and sparse hair. CHH is caused by mutations in the RMRP gene, which is responsible for producing a molecule called RNA component of mitochondrial RNA processing endoribonuclease (RMRP).

Short stature is one of the key features of CHH. Individuals with CHH tend to have a significantly shorter height compared to their peers. This is often evident from early childhood and persists into adulthood.

Skeletal abnormalities are another hallmark of CHH. These abnormalities can include shortened limbs, particularly the forearms and lower legs, as well as abnormal curvature of the spine (scoliosis). Joint problems, such as loose joints or limited range of motion, may also be present.

Sparse hair is a common characteristic of CHH. Individuals with CHH may have thin, fine, and slow-growing hair. The hair may also be brittle and prone to breakage.

Other features that may be associated with CHH include immune system dysfunction, increased susceptibility to infections, gastrointestinal issues, and an increased risk of certain cancers.

If you suspect that you or someone you know may have CHH, it is important to consult with a healthcare professional, such as a geneticist or pediatrician, who can evaluate the symptoms and perform appropriate diagnostic tests. These tests may include genetic testing to identify mutations in the RMRP gene.

Early diagnosis of CHH is crucial for appropriate management and treatment. While there is no cure for CHH, treatment focuses on managing the symptoms and associated complications. This may involve regular monitoring of growth and development, addressing skeletal abnormalities through orthopedic interventions, and addressing any other specific health concerns that may arise.