SHOX and dysplasia: 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).