ACHONCROPLASIA

What is achondroplasia?

Achondroplasia is a genetic condition that results in abnormally short stature and is the most common cause of short stature with disproportionately short limbs. The average height of an adult with achondroplasia is 131 cm in males and 124 cm in females.

1 in 25,000 births

What gene causes achondroplasia?

Achondroplasia is caused by mutations in the FGFR3 gene which codes for a protein (fibroblast growth factor receptor 3).

The mutation limits the process of ossification, or the formation of bone from cartilage.

The FGFR3 gene is located on the short (p) arm of chromosome 4 in chromosome band 4p16.3.

What are the characteristics of achondroplasia?

Intelligence is generally normal in patients with achondroplasia.

The baby exhibits some decrease in muscle tone (hypotonia).

At birth there is often prominence of the mid-to-lower back with a small gibbus (a hump).

The baby with achondroplasia has a relatively long, narrow torso (trunk) with short extremities (arms and legs)

There is a typically large head with prominence of the forehead (frontal bossing)

The baby's fingers appear short and the ringer and middle fingers diverge giving the hand a trident (three-pronged) appearance.

How is achondroplasia diagnosed?

What can be done for patients with achondroplasia?

The child with achondroplasia must not be allowed to become overweight. because excess weight aggravates back and joint problems.

Surgery is also indicated when spinal stenosis causes symptoms, which tends to be evident in young adults.

Orthopedic procedures may be performed for lengthening of the limb bones and correction of bowed legs. Pregnant women with achondroplasia should have their babies delivered by cesarean section, due to their characteristically small pelvis, and high risk of birth related trauma.

How is achondroplasia inherited?

What if someone with achondroplasia has children?

Although most children with achondroplasia do not have an achondroplastic parent but have a new mutant gene for achondroplasia, they can still transmit the gene to their children, and the risk for passing that gene down to a child is 50% in each pregnancy.

What if two people with achondroplasia have children?

If so, each parent has a 50:50 chance of passing on the gene. Thus, with each conception, there is a 25% chance for an average-size child, a 50% chance for a child (like them) with achondroplasia and a 25% chance for a conception with two achondroplasia genes.