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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
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.
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.
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.