Loss of function of the SHOX gene in the pseudoautosomal region of Xp (haploidy insufficiency) may contribute to short stature and skeletal characteristics in patients [38], and was associated with Leri-Weill dyschondrosteosis, Langer mesomelic dysplasia, and X-linked idiopathic familial short stature [39]. The gene discussed is SHOX; the disease is Langer mesomelic dysplasia.