Cartilage-hair hypoplasia (CHH) synonyms

Cartilage-hair hypoplasia (CHH) is a rare genetic disorder that affects the development of cartilage and hair in the body. It is also known by several other names, including metaphyseal chondrodysplasia McKusick type, McKusick type metaphyseal chondrodysplasia, and anauxetic dysplasia. These synonyms are used to describe the same condition, which is characterized by a range of physical and developmental abnormalities.

CHH primarily affects the skeletal system, leading to short stature and skeletal abnormalities. Individuals with CHH often have short limbs, a small chest, and a narrow ribcage. The condition can also cause joint problems, such as limited mobility and joint pain. Additionally, individuals with CHH may have sparse and fine hair, which can be brittle and prone to breakage.

Apart from the physical characteristics, CHH can also impact the immune system, making affected individuals more susceptible to infections. It may lead to a weakened immune response, resulting in frequent respiratory infections, gastrointestinal issues, and increased risk of autoimmune disorders.

CHH is caused by mutations in the RMRP gene, which is responsible for producing a specific type of RNA molecule involved in the development of cartilage and bone. The inheritance pattern of CHH is autosomal recessive, meaning that both parents must carry a copy of the mutated gene for their child to be affected.

While there is no cure for CHH, treatment focuses on managing the symptoms and complications associated with the condition. This may involve regular monitoring of growth and development, physical therapy to improve joint mobility, and interventions to address specific health issues. Genetic counseling is also recommended for families affected by CHH to understand the risks of passing on the condition to future generations.