The genetic variants in SLC26A2 result in skeletal dysplasias, which range in severity from the perinatal lethal achondrogenesis type IB (ACG1B, MIM 600972), atelosteogenesis type II (AO2, MIM 256050), and nonlethal diastrophic dysplasia (DTD, MIM 222600) to the relatively mild recessive multiple epiphyseal dysplasia-4 (MED-4, MIM 226900) [9–18]. The gene discussed is SLC26A2; the disease is multiple epiphyseal dysplasia type 4.