Achondroplasia

Achondroplasia is a genetic disorder that results in short-limb dwarfism. It is caused by a mutation in the fibroblast growth factor receptor 3 gene (FGFR3) and is the most common form of genetic dwarfism. Common features of achondroplasia include a disproportionately large head, shortened limbs, a prominent forehead, and an abnormal curvature of the spine. Achondroplasia is an important disorder to recognize due to its potential health complications, including an increased risk of complications in pregnancy and labor, potential neurological problems, and increased risk of musculoskeletal problems. With effective management, those living with achondroplasia can lead healthy and productive lives.