"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
|
| MeSH Number(s) |
C16.131.077.938
|
| 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
|
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.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2018 | 2 | 0 | 2 |
| 2019 | 0 | 1 | 1 |
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Below are the most recent publications written about "Waardenburg Syndrome" by people in Profiles.
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Melanocytes, Organogenesis, and Angiogenesis: Evidence for More than a Pigment-Producing Capability of Melanocytes. Cells Tissues Organs. 2018; 206(1-2):6-8.
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A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report. BMC Ophthalmol. 2018 Oct 11; 18(1):266.
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A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation. Am J Med Genet A. 2018 05; 176(5):1195-1199.