Biotech Industry Liaison Committee Review

What is achondroplasia

Achondroplasia is the most common form of skeletal dysplasia or dwarfism. It is a condition of abnormal bone growth that is caused by a mutation or alteration to the gene that encodes for fibroblast growth factor receptor 3 (FGFR3). This mutation causes the signaling pathway of the cells within the cartilage growth plate of the bones to be overactive, incorrectly telling the body to “slow down” growing.1,2

The majority of individuals with achondroplasia are diagnosed based on clinical characteristics and X-rays prior to birth or shortly after birth, although genetic testing can be done to remove any uncertainty. These characteristic features include short stature with disproportionately short arms and legs, large head (macrocephaly), prominent forehead (frontal bossing) and mid-face hypoplasia. Most individuals with achondroplasia are able to live independent and productive lives.1,2

Potential complications associated with achondroplasia include bowing of the legs, recurrent ear infections, leg & back pain due to spinal stenosis, delays in walking & motor skills, neck compression, and breathing problems, particularly sleep apnea. To learn more about achondroplasia, more information can be found here and here.2,3