Waardenburg's Syndrome

"Waardenburg's Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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.

Descriptor ID

D014849

MeSH Number(s)

C16.131.077.938

Concept/Terms

Waardenburg's Syndrome

Klein's Syndrome

Below are MeSH descriptors whose meaning is more general than "Waardenburg's Syndrome".

Diseases [C]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Abnormalities, Multiple [C16.131.077]
Waardenburg's Syndrome [C16.131.077.938]

Below are MeSH descriptors whose meaning is related to "Waardenburg's Syndrome".

Below are MeSH descriptors whose meaning is more specific than "Waardenburg's Syndrome".

publications

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This graph shows the total number of publications written about "Waardenburg's Syndrome" by people in Harvard Catalyst Profiles by year, and whether "Waardenburg's Syndrome" was a major or minor topic of these publication.

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