Cartilage-hair hypoplasia (CHH) is a rare genetic disorder that affects the development of bones and hair. It is not contagious and cannot be transmitted from person to person. CHH is caused by mutations in a specific gene and is inherited in an autosomal recessive manner. It primarily affects individuals of Finnish descent, but cases have been reported in other populations as well. Early diagnosis and appropriate medical management can help individuals with CHH lead fulfilling lives.
Cartilage-hair hypoplasia (CHH) is a rare genetic disorder that affects the development of bones and hair. It is not contagious and cannot be transmitted from one person to another. CHH is caused by mutations in the RMRP gene, which is responsible for producing a specific type of RNA molecule necessary for normal bone and hair growth.
Individuals with CHH have shorter stature due to the impaired growth of their bones. They may also have sparse and fine hair, as well as other physical characteristics such as a small chest and short limbs. Additionally, CHH can lead to a weakened immune system, making affected individuals more susceptible to infections.
Since CHH is a genetic disorder, it is inherited in an autosomal recessive manner. This means that both parents must carry a copy of the mutated gene for their child to be affected. However, it is important to note that not all individuals with CHH have a family history of the disorder, as new mutations can also occur.
While CHH itself is not contagious, it is crucial for individuals with the disorder to take precautions to prevent infections due to their weakened immune system. Regular medical check-ups, vaccinations, and maintaining good hygiene practices can help minimize the risk of infections and promote overall well-being.