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Waardenburg Syndrome MeSH Descriptor Data 2022


MeSH Heading
Waardenburg Syndrome
Tree Number(s)
C16.131.077.938
Unique ID
D014849
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D014849
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.
Entry Term(s)
Klein Syndrome
Klein's Syndrome
Klein-Waardenburg Syndrome
Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 3
Waardenburg Syndrome with Dystopia Canthorum
Waardenburg Syndrome with Upper Limb Anomalies
Waardenburg Syndrome, Type 1
Waardenburg Syndrome, Type 3
Waardenburg Syndrome, Type III
Waardenburg's Syndrome
Waardenburg's Syndrome Type 1
Waardenburg-Klein Syndrome
White Forelock (Poliosis) Syndrome with Multiple Congenital Malformations
See Also
Piebaldism
Public MeSH Note
2013; see ABNORMALITIES, MULTIPLE 1975-1990; Waardenburg's Syndrome 1991-2012
History Note
2013 (1966); use ABNORMALITIES, MULTIPLE 1975-1990; Waardenburg's Syndrome 1991-2012
Date Established
1991/01/01
Date of Entry
1999/01/01
Revision Date
2019/07/01
Waardenburg Syndrome Preferred
Waardenburg Syndrome Type 1 Narrower
Klein Syndrome Related
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