SHOX deficiency represents a frequent cause of short stature, being associated with different pathological phenotypes such as Turner syndrome (TS), Idiopathic Short Stature (ISS; MIM ID 300582), Léri-Weill dyschondrosteosis (LWD; MIM ID 127300) and Langer mesomelic dysplasia (LS; MIM ID 249700) [1-10]. The gene discussed is SHOX; the disease is Leri-Weill dyschondrosteosis.