A variety of mutations in SOX10 may result in various developmental defects including type II (WS2, OMIM 611584) and type IV (WS4, OMIM 613266) Waardenburg syndrome (WS) featuring auditory and pigmentary abnormalities, with the latter also exhibiting short-segment Hirschsprung disease (HD, OMIM 142623) [19–22]. Here, SOX10 is linked to Werner syndrome.