What is it?

Achondroplasia is a genetic bone growth disorder that causes dwarfism. The limbs of those who suffer from achondroplasia are short, while their torso is normal sized. This disorder occurs in 1:25,000 live births. The mutation that is involved in this condition is the FGFR3 gene which instructs the body to make the protein necessary for bone growth and maintenance. This mutation causes the protein to be overactive. Then, cartilage does not convert into bone, especially in the long bones of the arms and legs. Most of the cases of Achondroplasia are not inherited. Inherited achondroplasia occurs in 20 percent of the cases and it follows an autosomal dominant inheritance pattern. Those who inherit two mutated copies are usually stillborn or die shortly after the birth from respiratory failure.