Diastrophic dysplasia is a disorder of cartilage and bone development resulting in short stature with very short arms and legs. Other symptoms include early-onset joint pain, contractures, which restrict movement, clubfoot, hitchhiker thumbs and cleft palate.
Specific mutation analysis of the SLC26A2 gene include p.C653S, c.26+2T>C (IVS1+2T>C), p.R178X, p.R279W, p.V340del (c.1020_1022delGTT).