NCIt synonyms : Waardenburg-Shah Syndrome; Waardenburg Syndrome Type IV;
NCIt definition : A rare, autosomal dominant or autosomal recessive syndrome caused by mutations in
the SOX10, EDN3, or EDNRB genes. It is characterized by pigmentary abnormalities of
the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung
disease.;