简介：Waardenburgsyndromeisararediseasecharacterizedbysensorineuraldeafnessinassociationwithpigmentarydefects.Dependingonadditionalsymptoms,WShavebeenclassifiedintofourtypes.Waardenburgsyndrometype4,alsocalledasWaardenburgShahSyndromeisaveryrarecongenitaldisorderwithastoundingvariableclinicalexpression,characterizedbypigmentaryabnormalitiesofthehair(Awhiteforelockofhair,prematuregraying)andpigmentarychangesoftheirissuchasheterochromiaorhomochromiairides,sensorineuraldeafnessandHirschsprungdisease.ThreegeneshavebeenbestowedsofarinconsociationwithEDNRB,EDN3,andSOX10genes.ThepatternofinheritanceismultifariouswiththeSOX10mutationaffiliationwithautosomaldominantinheritancewhereastheEDNRBandEDN3genesarepasseddowninanautosomallyrecessivepattern.