ACHONDROPLASIA

DEFINITION
Achondroplasia is a bone growth disorder that causes disproportionate dwarfism. Dwarfism is
defined as a condition of short stature as an adult. People with achondroplasia are short in stature
with a normal sized torso and short limbs. It is the most common type of disproportionate dwarfism.
CAUSES
During early fetal development, much of the skeleton is made up of cartilage. Normally, most
cartilage converts to bone. However, in people with dwarfism, a lot of the cartilage does not
convert. This is caused by mutations in the FGFR3 gene.
The FGFR3 gene instructs the body to make a protein necessary for bone growth and maintenance.
The mutations cause the protein to be overactive. This interferes with normal skeletal development.
In more than 80 percent of cases, achondroplasia is not inherited and 20 percent of cases are
inherited.
SYMPTOMS
People with achondroplasia generally have normal intelligence levels. Their abnormalities are only
physical.
short stature
short arms and legs
short fingers
disproportionately large head compared to the body
abnormally large forehead
underdevelopment of the mid-face region
Health problems an infant may have include:
decreased muscle tone
apnea
hydrocephalus
spinal stenosis
TREATMENT
There is no cure or specific treatment for achondroplasia. Antibiotics are given for ear infections
and surgery may be performed in severe cases of spinal stenosis. However, if desired, the
controversial surgery of limb-lengthening will lengthen the legs and arms of someone with
achondroplasia.
Renzo Gianmarco, Avila Terrones
Seminario 22T