Achondroplasia
What is it?
Achondroplasia is a genetic bone growth disorder. It occurs in 1 out of every 25,000 births in both sexes and all races. The disease causes the body to grow disproportionately; an affected person will generally have small arms and legs, but a normal sized torso, which is due to slow conversion of cartilage to bone in the growth plates of long bones during growth periods.
What do people with Achondroplasia look like?
People with Achondroplasia are those you would classify as midgets, dwarfs, or little people. They generally have a normal sized torso and a large head, but small arms and legs. Their hands are small with stubby fingers and they usually reach an adult height of 4 feet.
How does Achondroplasia affect development?
- Babies generally develop a curved lower back once they begin walking and their legs may become bowed.
- Because of smaller extremities a baby takes longer to be able to sit, stand, and walk.
- Children and adults have normal intelligence.
- Hearing loss can occur because of small ear passages that cause infections.
- Paralysis can occur due to pressure building up in a small spinal column.
- Young children occasionally die in their sleep, which is thought to be due to breathing complications.
What are other problems with Achondroplasia?
Children with Achondroplasia are at a much higher risk for obesity, because they don’t grow as much and are unable to be as active. Excessive weight gain only hurts their already slowed skeletal development.
What causes Achondroplasia?
Achondroplasia is caused by a gene mutation on the 4th chromosome pair. Achondroplasia can be inherited from parents, but usually is not. 80% of Achondroplasia cases are a result of a mutation in the sperm or egg that formed the embryo which turned into the child. Some studies have determined that men over 40 are more likely to have a child with Achondroplasia.
How is Achondroplasia treated?
There is no way to normalize the growth of a child with Achondroplasia, however some medications and hormonal injections are used to increase height moderately. Leg lengthening surgery can be done, but is not recommended due to possible complications.
Children with Achondroplasia need to have their growth monitored closely. If an infant or young child’s head becomes to large, they may have hydrocephalus, which requires surgery to drain excess fluid from around the brain. Bowlegs can also be corrected with surgery.
Can Achondroplasia be prevented?
There is no way to prevent Achondroplasia in the majority of cases, because it results from a random gene mutation.
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