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What is Achondroplasia? Achondroplasia is a type of short-limbed dwarfism caused by a heterozygous mutation in the fibroblast growth factor receptor 3 gene 4p16.3.

How does Achondroplasia occur? In 15/16 tests, a G-to-A transition was discovered at nucleotide 1138. The 16th test was a G-to-C transversion. The result is a missense mutation (GLY-to-ARG). Further studies show that the transition mutation is by far the most common. 80% of people with this condition develop it because of a new mutation (not inherited from parents).

What does Achondroplasia look like? Those with Achondroplasia have problems with converting cartilage to bone specifically in the arms and legs. A relatively obvious sign of achondroplasia is short stature. Other characteristics include short limbs, limited mobility in the elbows, enlarged head, bowed legs, short fingers, and a prominent forehead. Those with achondroplasia may also experience breathing complications, obesity, and ear infections due to their condition. In severe cases, those with this condition may experience spinal stenosis which is “the narrowing of the spinal canal that can pinch the upper part of the spinal cord.” Some people might also experience a buildup of fluid in the brain.

How many people are affected by Achondroplasia? Achondroplasia is the most common type of short-limbed dwarfism, affecting 1 in 15,000 to 40,000 infants of all genders and ethnicities.