Achondroplasia

background

Achondroplasia, also called achondroplastic dwarfism, is a genetic condition that causes people to be abnormally short. On average, adult males with achondroplasia are about four feet, four inches tall, and adult females are about four feet one inch tall. People with the disorder typically have average-sized trunks with abnormally short arms and legs.
People with achondroplasia are abnormally short because their bodies have difficulty converting cartilage into bone, particularly in the long bones. Additional physical characteristics of the disorder typically include an enlarged head (called microcephaly) with a prominent forehead and short fingers.
Some cases of achondroplasia are inherited, while others occur when a gene randomly mutates during the development of the egg or sperm. The disorder can affect anyone, regardless of their race, ethnicity, or gender.
Achondroplasia is the most common type of short-limbed dwarfism. On average, researchers estimate that it affects one person out of 25,000 births worldwide. Studies suggest that the frequency may range from about one out of 10,000 births in Latin America to about 12 out of 77,000 in Denmark.
People with achondroplasia are generally able to live long, healthy lives. However, if a baby inherits two copies of a mutated gene (one from each parent), instead of just one, he/she only lives to be a few months old.
There is currently no cure for achondroplasia. Treatment focuses on minimizing complications of the disorder, such as sleep apnea, obesity, and arthritis. Many people with achondroplasia encounter discrimination at some point in their lives. Family support, advocacy groups, and social networks may help people overcome some of the challenges they face as a result of this disorder.

Related Terms

ACH, achondroplastic dwarfism, bowed legs, dwarfism, fibroblast growth factor receptor 3, FGFR3 gene, genu varum, limb lengthening, lordosis, lumbosacral spinal stenosis, microcephaly, short-limbed dwarfism, short stature, spinal stenosis.