Waardenburg's syndrome

Last reviewed 01/2018

Waardenburg's syndrome is the association of:

• patchy depigmentation of the skin
• sensorineural deafness
• a white forelock
• unusual facial hair distribution - fusion of the eyebrows in the midline
• heterochromia of the iris
• bilateral displacement of the medial canthi

Waardenburg syndrome is the most common type of hearing loss inherited as autosomal dominant trait

Phenotype associated with this syndrome includes, apart from hearing loss of various degree, pigmentary abnormalities of the skin, eye (heterochromia irides or bright blue irides) and hair (white forelock).

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

Waardenburg syndrome is named after Waardenburg (1886-1979), a Dutch ophthalmologist, who in 1951, first described a patient with hearing loss, dystopia canthorum (i.e. lateral displacement of the inner canthi of the eyes), and retinal pigmentary differences

• the condition he described is now categorized as Waardenburg syndrome type 1 (WS1)

Overall, the syndrome affects around 1 in 42,000 people. All races and both sexes are affected equally. Waardenburg syndrome accounts for about 2-5% cases of congenital deafness.

Reference:

• Gad A et al. Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of waardenburg syndrome? Am J Med Genet. 2008;7:1880-1885.
• Nayak C.S., Isaacson G. Worldwide distribution of Waardenburg syndrome. Ann Otol Rhinol Laryngol. 2003;112:817-820