The homeobox gene SHOX is known to play a key role during limb development, and mutations or deletions lead to the limb malformations seen in LWD and Langer syndrome or to short stature without limb anomalies in patients with idiopathic short stature [3], [4], [5], [33]. The gene discussed is SHOX; the disease is Leri-Weill dyschondrosteosis.