cartilage-hair hypoplasia

What is Cartilage-Hair Hypoplasia?

Cartilage-hair hypoplasia (CHH) is an inherited condition that causes an affected person to have an extremely small stature with short arms and legs. This is known as short-limbed dwarfism. People with CHH also tend to have fine, sparse hair and abnormal cartilage. Some people with CHH have an impaired immune system, leaving them more susceptible to infection, notably to a severe course of chicken pox. Some also have low levels of certain white blood cells. Anemia, a lowered number of red blood cells leading to fatigue and weakness, is common in children with CHH, though it usually disappears by adulthood. Some people with CHH are at a higher risk for certain cancers including non-Hodgkin’s lymphoma and skin cancer. Symptoms and their severity vary widely among people with the disease.

How common is Cartilage-Hair Hypoplasia?

Cartilage-hair hypoplasia is rare. It is most common among the Amish population. One study indicated that 1 in 19 Amish were carriers of the disease and 1 in 1340 Amish babies were born with the disease. It is also more common in the Finnish population where 1 in 76 is a carrier and 1 in 23,000 babies has the disease.

How is Cartilage-Hair Hypoplasia treated?

There is no treatment for cartilage-hair hypoplasia. The drug Acyclovir can be useful to treat chicken pox. Infections, particularly those in childhood, should be given close medical attention. Growth hormones may be a possibility for some patients. Those with extreme immunodeficiency may want to consider bone marrow transplantation to ameliorate this symptom.

What is the prognosis for a person with Cartilage-Hair Hypoplasia?

People with cartilage-hair hypoplasia can live a normal lifespan. Those with severe immunodeficiency need to monitor their health more closely. Opportunistic infections can be fatal, particularly in childhood.