What is 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 type of RNA molecule involved in the growth and development of cells.

Individuals with CHH typically have short limbs, a small chest, and a narrow ribcage. They may also experience joint problems, such as limited mobility and arthritis. Additionally, affected individuals often have immune system deficiencies, making them more susceptible to infections.

Diagnosis of CHH is usually based on clinical features, radiographic findings, and genetic testing. Prenatal diagnosis is also possible through genetic testing of fetal cells.

Treatment for CHH is primarily focused on managing the symptoms and complications associated with the disorder. This may involve growth hormone therapy to improve height, physical therapy to enhance mobility, and regular monitoring for infections. Genetic counseling is recommended for affected individuals and their families to understand the inheritance pattern and potential risks.

While there is currently no cure for CHH, ongoing research aims to further understand the underlying mechanisms of the disorder and develop potential therapeutic interventions.