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.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 60 free, full-text research articles on human participants. First 3 results:

Shah-Waardenburg syndrome.
 

Author(s): Abdelhalim Mahmoudi, Mohamed Rami, Khalid Khattala, Aziz Elmadi, My Abderrahmane Afifi, Bouabdallah Youssef

Journal: Pan Afr Med J. 2013 ;14():60.

 

Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with ...

Last Updated: 8 Apr 2013

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[Waardenburg syndrome--ophthalmic findings and criteria for diagnosis: case reports].
 

Author(s): Luciano Sólia Nasser, Lívia Maris Ribeiro Paranaíba, Ana Cláudia Frota, Andreia Gomes, Gisele Versiani, Hercílio Martelli Júnior

Journal: Arq Bras Oftalmol. 2012 Oct;75(5):352-5.

 

To describe the clinical and imaginological features of two families with Waardenburg syndrome: type I and II, with emphasis on ophthalmic manifestations, as well as the pattern of genetic inheritance.

Last Updated: 8 Mar 2013

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A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.
 

Author(s): Filiz Hazan, A Taylan Ozturk, Hamit Adibelli, Nurettin Unal, Ajlan Tukun

Journal: Mol. Vis.. 2013 ;19():196-202.

 

Screening of mutations in the paired box 3 (PAX3) gene in three generations of a Turkish family with Waardenburg syndrome type 1 (WS1).

Last Updated: 4 Feb 2013

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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

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