"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.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2002 | 1 | 0 | 1 |
| 2003 | 1 | 0 | 1 |
| 2007 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
| 2017 | 1 | 0 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Waardenburg Syndrome" by people in Profiles.
-
The additional genetic diagnosis of homozygous sickle cell disease in a patient with Waardenburg-Shah syndrome: a case report. J Med Case Rep. 2019 Jan 13; 13(1):10.
-
22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. Am J Med Genet A. 2017 Apr; 173(4):1066-1070.
-
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. Am J Hum Genet. 2015 Nov 05; 97(5):647-60.
-
Does short bowel syndrome increase the risk of food allergy and eosinophilic gastrointestinal disease? Observations in Shah-Waardenburg syndrome. J Allergy Clin Immunol. 2013 Jan; 131(1):251-5.
-
Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain. Hum Mol Genet. 2007 Dec 15; 16(24):3037-46.
-
Melanocytes and the microphthalmia transcription factor network. Annu Rev Genet. 2004; 38:365-411.
-
Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature. Pediatr Surg Int. 2003 Dec; 19(11):725-8.
-
Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation. Ann Neurol. 2002 Dec; 52(6):836-42.
-
Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences. Nat Genet. 1994 Nov; 8(3):256-63.
-
Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein. Cell. 1993 Jul 30; 74(2):395-404.