Waardenburg Syndrome
"Waardenburg 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.
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
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MeSH Number(s) |
C16.131.077.938
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Concept/Terms |
Waardenburg Syndrome- Waardenburg Syndrome
- Syndrome, Waardenburg
- Waardenburg's Syndrome
- Syndrome, Waardenburg's
- Waardenburgs Syndrome
Waardenburg Syndrome Type 1- Waardenburg Syndrome Type 1
- Waardenburg Syndrome, Type 1
- Waardenburg Syndrome with Dystopia Canthorum
- Waardenburg's Syndrome Type 1
Klein Syndrome- Klein Syndrome
- Syndrome, Klein
- Klein-Waardenburg Syndrome
- Klein Waardenburg Syndrome
- Syndrome, Klein-Waardenburg
- Waardenburg Syndrome Type 3
- White Forelock (Poliosis) Syndrome with Multiple Congenital Malformations
- Waardenburg Syndrome, Type 3
- Waardenburg Syndrome, Type III
- Waardenburg-Klein Syndrome
- Syndrome, Waardenburg-Klein
- Waardenburg Klein Syndrome
- Klein's Syndrome
- Kleins Syndrome
- Syndrome, Klein's
- Waardenburg Syndrome with Upper Limb Anomalies
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Below are MeSH descriptors whose meaning is more general than "Waardenburg Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Waardenburg Syndrome".
This graph shows the total number of publications written about "Waardenburg Syndrome" by people in this website by year, and whether "Waardenburg Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
Year | Major Topic | Minor Topic | Total |
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2009 | 0 | 1 | 1 | 2023 | 1 | 0 | 1 |
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Below are the most recent publications written about "Waardenburg Syndrome" by people in Profiles.
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Montalva L, Cheng LS, Kapur R, Langer JC, Berrebi D, Kyrklund K, Pakarinen M, de Blaauw I, Bonnard A, Gosain A. Hirschsprung disease. Nat Rev Dis Primers. 2023 Oct 12; 9(1):54.
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Mirhadi S, Spritz RA, Moss C. Does SNAI2 mutation cause human piebaldism and Waardenburg syndrome? Am J Med Genet A. 2020 12; 182(12):3074-3075.
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Quackenbush KE, Luna-Fineman S, Magee JF, Gundogan M, Golobi M, Irie T, Fernandez CV. Neuroblastoma involvement of the falx cerebri. Pediatr Blood Cancer. 2009 Dec 15; 53(7):1337-9.
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Morell R, Spritz RA, Ho L, Pierpont J, Guo W, Friedman TB, Asher JH. Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). Hum Mol Genet. 1997 May; 6(5):659-64.
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Spritz RA. Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development. Semin Cutan Med Surg. 1997 Mar; 16(1):15-23.
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Lu-Kuo J, Ward DC, Spritz RA. Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the human Waardenburg syndrome, type I (WS1) locus (PAX3 gene). Genomics. 1993 Apr; 16(1):173-9.
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