What is Involved in Achondroplasia Treatment?

Achondroplasia is the medical term for disproportionate dwarfism, a congenital condition with no cure. It is not possible to fully normalize the skeletal disproportions caused by this condition. Achondroplasia treatment is limited to addressing peripheral medical issues as needed. So-called "limb lengthening" surgery is available to some disproportioned individuals but is considered controversial.

Achondroplasia causes abnormal proportioning of the arms, legs, head, and other features compared to the individual's torso size. This condition is the result of a spontaneous gene mutation during fetal development, and the majority of individuals with dwarfism are born of two normally proportioned parents. Individuals with achondroplasia tend to reach an average adult height of approximately 4 feet (1.3 meters). Achondroplasia is the most common type of short stature disorder, accounting for 70 percent of cases. People with this condition generally have normal intelligence and live a normal life span.

Physical features of this condition include significantly shorter height than average compared to the same age and sex. In addition, it is typical for these individuals to have bowed legs, prominent foreheads, and short fingers. Some individuals might also have clubbed feet.

Achondroplasia treatment focuses on the amelioration of medical issues that are common to disproportionately sized people. Some of these problems could include excessive weight, overcrowded teeth, breathing problems, and frequent middle ear infections. Two serious conditions that can be addressed with surgery are spinal cord compression and spinal stenosis, which causes weakness or tingling in the legs due to pressure on the spinal cord. Achondroplasia treatment in infants or small children can also include medical assistance for hydrocephalus, a fluid buildup on the brain that must be drained with a shunt, or kyphosis, a hump that can be corrected using a back brace.

Achondroplasia treatment does not include the use of human growth hormone to increase height. This kind of hormone therapy is considered viable only in cases of proportionate dwarfism, in which the limbs and head are appropriately proportioned to the size of the torso. The use of growth hormone has not been shown to significantly increase adult height when used in children with achondroplasia.

Individuals with achondroplasia might require therapeutic support for issues related to social adjustment. Many individuals affected by dwarfism experience discrimination related to employment, access to resources, and other facets of social interaction. A form of achondroplasia treatment called limb lengthening surgery is extremely controversial. Some individuals elect to undergo this surgery to achieve greater height for cosmetic and social purposes, but this procedure is not considered medically necessary.