Aetiology

Waardenburg's syndrome is probably a disorder of neural crest migration which is inherited in an autosomal dominant manner.

The disorder has been mapped to the distal part of chromosome 2. Some families show mutations in the gene Pax-3 which is involved in directing embryological development.

Notes:

• Waardenburg syndrome is the most common type of hearing loss inherited as autosomal dominant trait
  • four types of WS have been distinguished, depending on the presence of other abnormalities
    • patients with WS type 1 (WS1) present mutation within Paired Box 3 (PAX3) gene, however it has been shown to be present in only 45% of the WS1 syndrome. Heterozygous mutations of this gene have been reported in both sporadic and familial cases

Reference:

• Gad A, Laurino M, Maravilla KR, Matsushita M, Raskind WH. Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of waardenburg syndrome? Am J Med Genet. 2008;7:1880-1885.