Heterozygous SHOX haploinsufficiency causes phenotypes that range from isolated short stature to the complete picture of the Leri-Weill dyschondrosteosis (LWD), a skeletal dysplasia characterized by mesomelia and Madelung deformity (i.e. shortening and bowing of the radius with dorsal subluxation of the distal ulna) (19). Here, SHOX is linked to skeletal dysplasia.