Waardenburg syndrome (WS) is a genetic disorder characterised by congenital hearing loss, dystopia canthorum (increased distance between the inner canthi), and abnormalities in pigmentation of the hair, skin, and eyes. There are four different types of Waardenburg Syndrome: types 1 and 2 are the most common types, whereas types 3 and 4 are relatively rare. Waardenburg syndrome type 2 (WS2) patients do not present with dystopia canthorum but have other typical WS features including pigmentation anomalies and varying degrees of sensorineural deafness.

WS2 is genetically heterogeneous and has several subtypes. Mutations in the MITF (microphthalmia-associated transcription factor) gene, located on chromosome 3p13, have been identified in some cases of WS2A. Other subtypes of WS2 are caused by mutations in the SNAI2 gene, SOX10 gene, or linked to loci on chromosomes 1p or 8p23.