Dwarfism, a.k.a. Achondroplasia

Dwarfism is described as a person measuring less than 4 foot 10 inches tall. There are over 200 possible causes of dwarfism, with most of them genetic. Seventy percent of dwarfism is of the “achondroplastic”-type and 85% of these people have parents of average height, meaning that it is a spontaneous mutation. In most cases of dwarfism intelligence is not affected.

Many of the types of dwarfism are caused by abnormal bone growth and they can be divided into two groups: short-limb dysplasia and short-trunk dysplasia. “Dysplasia” refers to abnormal development. In the short-limb type of dwarfism, people have a normal-size trunk and shortened limbs, while in the short-trunk type people have a small trunk and average-size limbs.

Achondroplasia is of the short-limb dysplasia group and happens in every 1 in 26,000 births in all races and ethnicities. As mentioned, most of the time it is a spontaneous mutation and the parents do not have dwarfism. The chance of their next child having dwarfism is quite small. In the cases where one or both parents are affected, their children are very likely to be affected. With achondroplasia, besides having the shortened limbs, these people have a prominent forehead and can have other problems like a flattened nose, spinal curvature, poor muscle tone, and bowed legs. They may have more problems with ear infections, breathing problems, obesity, early arthritis, hearing loss, poor joint flexibility, and difficult with motor skills and development.

Diagnosis of dwarfism is usually made after birth if the infant has certain characteristics, is not growing, etc., but it can be made prenatally as well, meaning before the child is born. X-rays are often done and measurements made to confirm the diagnosis.

There is no “cure” for dwarfism as it is not a disease. Things can be done to help with some of the problems associated with dwarfism. Surgery can sometimes help with the leg, spine, and hip problems. Nutritionists and physiotherapist may be of help as well in dealing with the extra weight and the stress on the joints. People with dwarfism lead normal, healthy lives in general.