Achondroplasia is a rare genetic disease affecting the growth of the skeletal system. According to the March of Dimes, it affects 1 in every 15,000 to 40,000 individuals and causes the most common form of dwarfism.
Causes
According to the Genetics Home Reference, achondroplasia occurs when cartilage does not properly convert into bone during development, particularly in the long bones of the arms and legs. As an autosomal-dominant genetic disease, if either parent has the disease, there is a 50 percent chance that the child will inherit it. If both parents are afflicted, the risk rises to 75 percent. Most children born with achondroplasia do not inherit it, however, but develop the condition spontaneously as a genetic mutation, explains MedlinePlus.
Symptoms
According to the University of Maryland Medical Center, symptoms of achondroplasia are typically evident when a child is born. The baby will often appear to have bowed legs, a prominent forehead, a larger than normal head, shortened arms and legs, curvature of the spine, an abnormally shaped hand, and decreased muscle tone. The most obvious symptom in adults is short stature, with males reaching an average of 4 feet, 4 inches and females reaching an average of 4 feet, 1 inch, according to the Genetics Home Reference.
Complications
Babies born with achondroplasia may develop hydrocephalus, a buildup of fluid in the cranium. The March of Dimes notes that these babies may also be born with club feet and be prone to ear infections and apnea, which is a condition in which a person stops breathing for a period of time. Babies with achondroplasia may also experience motor development delays because of their poor muscle tone.
Treatment
There is no cure for achondroplasia, but most of the complications arising from the disorder can be caught and treated at birth. Surgery to drain excess fluid from the cranium, relieve pressure on the spinal cord and fix bowed legs are all things doctors can do to help someone with achondroplasia develop as normally as possible. According to the March of Dimes, some hospitals are trying administration of human growth hormone and leg lengthening surgeries to add height to children with achondroplasia, but the success rates and long term complications involved with these treatments are yet unknown.
Considerations
Individuals with achondroplasia who plan on having children, or parents who discover during pregnancy that their baby may have this condition, may want to consider genetic counseling. Advocacy groups for little people, such as Little People of America, may be able to help individuals by answering questions and providing resources on the disease. Such groups typically recommend that controversial treatments such as leg lengthening surgeries be postponed until a child is old enough to make the decision himself.
