Achondroplasia

Achondroplasia is caused by a mutation in Fibroblast growth factor receptor 3 (FGFR3). It causes

abnormal cartilage formation. This is an autosomal dominant disease, it means that if one of the
parents have the gen, children have the 50% of probability of be affected, but if both of they have
the gene the probability increase to 75%.
Achondroplasia is the most common type of dwarfism, in which arms and legs are short in
proportion to body length.
What are the symptoms?
The following are the most common symptoms:
Short stature
Short arms and legs, short fingers
Disproportionately large head compared to the body
Abnormally large forehead
Decreased muscle tone, which can cause delays in walking and other motor skills
Apnea (brief periods where breathing is slowed or stops)
Hydrocephalus
Spinal stenosis (a narrowing of the spinal canal that can compress the spinal cord)
How is achondroplasia diagnosed?
Achondroplasia can be diagnosed before birth by fetal ultrasound or after birth by complete
medical history and physical examination. DNA testing is now possible before birth to confirm
fetal ultrasound findings for parents who are at increased risk for having a child with
achondroplasia.
The diagnosis after the birth of the baby is made by physical examination and X-rays, showing
the problems of development of many of the bones.
How is achondroplasia treated?
There is no way to prevent or treat achondroplasia, since the majority of cases result from
unexpected new mutations. Leg-lengthening surgeries may be considered in some cases.
TEST
Treatment with human growth hormone has been used for years. It is something that doctors
are using especially in children, who are in their first year old. There arent other treatments for
adults.
Prevention
There are no measures to prevent a genetic disorder. You can receive genetic counseling to
discuss the probability that your child gets achondroplasia. You can consider such advice if you
plan to have a child and a family history of genetic conditions.