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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Waardenburg Syndrome

Preferred term

Waardenburg Syndrome  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Syndrome, Waardenburg's
  • Waardenburg's Syndrome
  • Waardenburgs Syndrome

Scope note

  • Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.

History note

  • 2013 (1966); use ABNORMALITIES, MULTIPLE 1975-1990; Waardenburg's Syndrome 1991-2012

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URI

http://www.yso.fi/onto/mesh/D014849

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