Although a homozygous mutation of c.553G>A(p.V185M) (Wang et al., 2017) in EDNRB was identified by WES in this family, no other characteristic symptoms, such as Hirschsprung disease and depigmented patches of the skin and hair, were found in our patients, suggesting atypical WS4 disease. The gene discussed is EDNRB; the disease is Hirschsprung disease.