The homozygous mutation c.835C > T (p.Arg279Trp) is the most common mutation in the SLC26A2 gene, resulting in MED-4 with short stature, multiple epiphyseal dysplasia, scoliosis, double layered patella, brachydactyly and clubfoot [8, 12, 13]. The gene discussed is SLC26A2; the disease is multiple epiphyseal dysplasia type 4.