Achondroplasia is a genetic disorder of bone growth characterized by disproportionate short stature (dwarfism) and disordered architecture in the long bones, spine, face and base of the skull.

Achondroplasia is caused by impaired endochondral bone growth due to a gain of function mutation in fibroblast growth factor receptor 3 gene (FGFR3). 

Symptoms of achondroplasia include short stature, shortened arms and legs (especially the upper arm and thigh), small fingers, bowed legs, spinal stenosis, curvature of the spine, macrocephaly (large head), and hydrocephalus (fluid on the brain).

Voxzogo (vosoritide) is the first FDA approved treatment for children with achondroplasia. Voxzogo is indicated to increase linear growth in pediatric patients with achondroplasia who are 5 years of age and older with open epiphyses (growth plates). It works as a positive regulator of the signaling pathway downstream of FGFR3 to promote endochondral bone growth.

Drugs used to treat Achondroplasia