Achondroplasia (ACH) is a common skeletal dysplasia associated with short-limbed short stature caused by the gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene and characterized by relative macrocephaly with frontal bossing, midface hypoplasia, and thoracolumbar kyphosis.1-4. The gene discussed is FGFR3; the disease is achondroplasia.