Cartilage-hair hypoplasia is a form of short-limb dwarfism that is associated with certain kinds of T-cell and/or B-cell immunodeficiencies and other side effects. While no cure exists for this condition, treatment is available for its various symptoms.
Causes and Symptoms
Cartilage-hair hypoplasia is a genetically transmitted birth defect, meaning it is passed from parents to offspring. Therefore, it is not contagious. Incidences of this condition are very rare, although its occurrence is higher among Amish communities and in Finland, and it was first identified in Old Order Amish communities. It affects men and women in equal rates.
There are numerous symptoms of cartilage-hair hypoplasia. It is marked by small, slightly fat hands, extra folds of skin around the neck, and hair that is very fine and lacking a central core. As an afflicted child ages, other symptoms present themselves. They include bowlegs, dysplasia of the fingernails and toenails, lightly pigmented skin, poor absorption in the gut and celiac syndrome. The average adult height of someone with cartilage-hair hypoplasia is between 40 and 60 inches. Many with the condition have highly flexible joints but have some trouble fully extending their elbows. About 79 percent of those afflicted have childhood anemia, and about 9 percent develop severe anemia, which is a permanent condition for about half of them.
Cartilage-hair hypoplasia is associated with B-cell and/or T-cell immunodeficiency. T-cell immunodeficiency is found in 86 percent of people with cartilage-hair hypoplasia, and B-cell immunodeficiency is found in 35 percent of those afflicted. The immunodeficiency can lead to severe opportunistic infections, especially chickenpox and pneumonia, during infancy and throughout adulthood.
Treatment and Prognosis
Because cartilage-hair hypoplasia is a genetic disease, it has no cure. Treatment of symptoms is the general course of action for people with the condition.
Immunodeficiency is the most common symptom of cartilage-hair hypoplasia, and treating resulting infections early is important. The most common and dangerous source of infection in people with cartilage-hair hypoplasia is chickenpox, which should be treated immediately with Acyclovir. The chickenpox vaccine may be useful, but it may result in chickenpox because it is a live-virus vaccine. Extremely severe T-cell immunodeficiency can be treated with a bone marrow transplant as well as intravenous injections of immunoglobulin. Anemia can be treated with granulocyte colony-stimulating factor.
In some studies, aspects of dwarfism were treated with human growth hormone, producing varying results. The condition also has been treated with surgical procedures to lengthen bones, although for people with cartilage-hair hypoplasia, post-operative infection is much more prevalent than in most other people, and proper precautions should be taken.
The highest mortality rate for people with cartilage-hair hypoplasia occurs in those with severe immunodeficiencies. If side effects of the disease are kept diligently in check, however, a person afflicted with cartilage-hair hypoplasia can have a normal life span.
Tags: with cartilage-hair, with cartilage-hair hypoplasia, cartilage-hair hypoplasia, people with, people with cartilage-hair, treated with, cartilage-hair hypoplasia