Waardenburg syndrome

Common Name(s)

Waardenburg syndrome

Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. The four known types of Waardenburg syndrome are distinguished by their physical characteristics and sometimes by their genetic cause.

Waardenburg syndrome type 1 and type 2 have very similar features, although people with type 1 almost always have eyes that appear widely spaced and people with type 2 do not. In addition, hearing loss occurs more often in people with type 2 than in those with type 1. Waardenburg syndrome type 3 (sometimes called Klein-Waardenburg syndrome) includes abnormalities of the upper limbs in addition to hearing loss and changes in pigmentation. Waardenburg syndrome type 4 (also known as Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine.

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Waardenburg syndrome" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Waardenburg syndrome" returned 70 free, full-text research articles on human participants. First 3 results:

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.
 

Author(s): Celia Zazo Seco, Luciana Serrão de Castro, Josephine W van Nierop, Matías Morín, Shalini Jhangiani, Eva J J Verver, Margit Schraders, Nadine Maiwald, Mieke Wesdorp, Hanka Venselaar, Liesbeth Spruijt, Jaap Oostrik, Jeroen Schoots, , Jeroen van Reeuwijk, Stefan H Lelieveld, Patrick L M Huygen, María Insenser, Ronald J C Admiraal, Ronald J E Pennings, Lies H Hoefsloot, Alejandro Arias-Vásquez, Joep de Ligt, Helger G Yntema, Joop H Jansen, Donna M Muzny, Gerwin Huls, Michelle M van Rossum, James R Lupski, Miguel Angel Moreno-Pelayo, Henricus P M Kunst, Hannie Kremer

Journal: Am. J. Hum. Genet.. 2015 Nov;97(5):647-60.

 

Linkage analysis combined with whole-exome sequencing in a large family with congenital and stable non-syndromic unilateral and asymmetric hearing loss (NS-UHL/AHL) revealed a heterozygous truncating mutation, c.286_303delinsT (p.Ser96Ter), in KITLG. This mutation co-segregated with ...

Last Updated: 7 Nov 2015

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Waardenburg syndrome type 2: an orthodontic perspective.
 

Author(s): Raluca Diana Şuhani, Mihai Flaviu Şuhani, Alexandrina Muntean, Michaela Florica Mesaroş, Mîndra Eugenia Badea

Journal: Rom J Morphol Embryol. 2015 ;56(2 Suppl):879-83.

 

Waardenburg syndrome is a rare form of neurocristopathy. It is a disorder in the development of neural crest cells, caused by an altered cellular migration during the embryonic phase. That alteration causes an association of different abnormalities such as pigmentary disturbances ...

Last Updated: 2 Oct 2015

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[Waardenburg syndrome].
 

Author(s): Mahfoudhi Madiha, Khamassi Khaled

Journal:

 

Last Updated: 28 Aug 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Waardenburg syndrome" returned 4 free, full-text review articles on human participants. First 3 results:

Waardenburg syndrome.
 

Author(s): A P Read, V E Newton

Journal: J. Med. Genet.. 1997 Aug;34(8):656-65.

 

Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS). Type I WS, characterised by dystopia ...

Last Updated: 6 Oct 1997

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The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).
 

Author(s): R Morell, T B Friedman, J H Asher, L G Robbins

Journal: J. Med. Genet.. 1997 Jun;34(6):447-52.

 

Waardenburg syndrome (WS) is caused by autosomal dominant mutations, and is characterised by pigmentary anomalies and various defects of neural crest derived tissues. It accounts for over 2% of congenital deafness. WS shows high variability in expressivity within families and differences ...

Last Updated: 22 Aug 1997

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Splotch locus mouse mutants: models for neural tube defects and Waardenburg syndrome type I in humans.
 

Author(s): C E Moase, D G Trasler

Journal: J. Med. Genet.. 1992 Mar;29(3):145-51.

 

Last Updated: 28 Apr 1992

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Development and Clinical Application of Two New Genetic Deafness Gene Diagnostic Kit
 

Status: Recruiting

Condition Summary: Waardenburg Syndrome; Large Vestibular Aqueduct Syndrome

 

Last Updated: 15 Apr 2015

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