The loss of both SHOX alleles causes an extreme phenotype of skeletal dysplasia called Langer mesomelic dysplasia (LMD) while SHOX haploinsufficiency is associated with a wide spectrum of short stature phenotypes including Turner syndrome, Léri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS). Here, SHOX is linked to Leri-Weill dyschondrosteosis.