Fibroblast growth factor receptor 3 (FGFR3) gene germline mutations are well-known causes of skeletal dysplasia syndromes which encompass a wide spectrum of disorders that range from the relatively mild short-limb dwarfism, hypochondroplasia (HCH), to the most common genetic form of dwarfism, achondroplasia (ACH), to severe achondroplasia with acanthosis nigricans and mental retardation (SADDAN syndrome) [1, 2]. The gene discussed is FGFR3; the disease is achondroplasia.