How is achondroplasia treated?

The growth and development of children with achondroplasia are monitored closely. Though there is currently no way to normalize skeletal development of children with the disorder, most complications can be effectively treated.

Infants and children with achondroplasia should be thoroughly evaluated for skeletal abnormalities by a doctor experienced with the disorder. The doctor will follow the child's growth using special charts of head and body growth developed for children with achondroplasia.

If the head is becoming too large, the doctor will test the child for hydrocephalus. If necessary, a neurosurgeon will insert a shunt to drain the excess fluid and relieve pressure on the brain.

The child also will be monitored for signs of upper spinal cord compression (due to foramen magnum abnormalities) using tests such as computed tomography (CT scan or CAT scan) or magnetic resonance imaging (MRI). Possible symptoms of spinal cord compression may include snoring, sleep apnea (episodes where the baby stops breathing while sleeping) and persistent low muscle tone. When necessary, surgery can widen the opening and relieve pressure on the spinal cord. Some children also may have breathing problems caused by small facial structures, large tonsils or a small chest size. Surgery to remove the tonsils and adenoids (lymph tissue near the throat) often improves these breathing problems.

If kyphosis does not go away after a child begins walking, a back brace may be used to correct it. If a brace is not effective, the child may be treated with a cast that is worn for several months or with surgery. Bowing of the legs, especially if it becomes severe or causes pain, also can be corrected with surgery.

Children with achondroplasia often require placement of middle-ear drainage tubes. This helps to prevent the hearing loss that can occur with frequent ear infections. Dental problems caused by overcrowding of teeth may require extra routine care and braces.

Children with achondroplasia tend to put on extra weight, starting in early childhood. Because excessive weight can further aggravate skeletal problems, affected children should receive nutritional guidance to help prevent obesity.

Some medical centers are evaluating the use of human growth hormone to improve the growth of children with achondroplasia. To date, some children have achieved modest increases in growth after one to two years of treatment. However, it is not yet known whether treatment will significantly increase their eventual adult height.

Leg-lengthening surgeries can increase the height of someone with achondroplasia by up to 12 to 14 inches. This procedure requires a long duration of treatment (up to 2 years), however, and is associated with many complications. Little People of America, an organization that provides information and support for individuals with short stature, regards this procedure as experimental and recommends that it be done only in a center that is well experienced in the procedure.