May also be called: Achondroplastic Dwarfism; Skeletal Dysplasia
Achondroplasia (ay-kon-druh-PLAY-zhee-uh) is a genetic
disorder that interferes with bone growth and causes dwarfism (short stature).
More to Know
During a baby's development in the womb, much of the skeleton
is made up of a tough, flexible tissue called cartilage. Normally, cartilage is converted
to bone by a process called ossification. With achondroplasia, the body has a problem
growing cartilage and converting it to bone, especially in the long bones of the arms
and legs. This results in shorter bones, short stature, and often a large head with
a prominent forehead. It can also cause knock-knees,
bow-leggedness, or excessive curving of the lower back (lordosis or kyphosis).
Achondroplasia is the most common cause of dwarfism.
It happens because of a mutation in a gene that develops and maintains bone tissue.
Achondroplasia can be inherited from a parent, but in most cases, the mutation in
the gene happens at random. Most people with achondroplasia have normal-sized parents.
Since achondroplasia is due to a genetic mutation, those who have it may pass it
on to their children. It can be diagnosed prenatally by ultrasound or genetic
testing. There is no specific treatment for achondroplasia, but treatment might be
necessary if it leads to complications such as hydrocephalus
(fluid collecting around the brain), obesity, or spinal
stenosis (narrowing of the spinal canal).
Keep in Mind
There is no cure for achondroplasia, but it does not affect a person's intellectual
ability or life span.
All A to Z dictionary entries are regularly reviewed by KidsHealth medical