Mutations in SLC26A2 gene result in a spectrum of autosomal recessive chondrodysplasias that range from the mildest recessive form of multiple epiphysial dysplasia (rMED) through the most common diastrophic dysplasia (DTD) to lethal atelosteogenesis type II and achondrogenesis IB. This evidence concerns the gene SLC26A2 and multiple epiphyseal dysplasia type 4.