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Concept information

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

Terme préférentiel

Waardenburg Syndrome  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Concepts associés

Synonyme(s)

  • Waardenburg's Syndrome

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-Q9GP2TKF-9

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 01/07/2019