SLC26A2 is an anion transporter responsible for four recessively inherited chondrodysplasias: multiple epiphyseal dysplasia (MED) [22], diastrophic dysplasia (DTD) [23], atelosteogenesis Type II (AO2) [24] and achondrogenesis type IB (ACG1B) [25]. Here, SLC26A2 is linked to diastrophic dysplasia.