Functional loss or haploinsufficiency of SHOX causes various short stature conditions and disturbed bone development with wide phenotypic spectrum within and among affected families, including pseudoautosomal dominant disorders Leri-Weill dyschondrosteosis (MIM 127300) and idiopathic familial short stature (MIM 300582) on the mild end and recessive Langer mesomelic dysplasia on the more severe (MIM 249700). Here, SHOX is linked to Leri-Weill dyschondrosteosis.