Waardenburg syndrome type 2

Common Name(s)

Waardenburg syndrome type 2

Waardenburg syndrome type 2 is an inherited condition that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes.  About 50 percent of those with Waardenburg syndrome type 2 have a hearing impairment or are deaf.   Type 2 is one the most common forms of Waardenburg syndrome, along with type 1. Waardenburg syndrome type 2 may be caused by mutations in the MITF and SNAI2 genes. This condition is usually inherited in an autosomal dominant fashion, but can sometimes be inherited as an autosomal recessive trait.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Waardenburg syndrome type 2" 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 type 2" returned 12 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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Anisometropic amblyopia in a case of type 2 Waardenburg syndrome.
 

Author(s): Ali Akal, Tugba Göncü, Nurefsan Boyaci, Ömer Faruk Yılmaz

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This study presents a case of an 8-year-old boy with iris heterochromia and anisometropic amblyopia who was diagnosed with Waardenburg syndrome (WS) type 2. An ophthalmic examination revealed iris heterochromia and anisometropic amblyopia in our patient. In the systemic examination, ...

Last Updated: 19 Dec 2013

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Reviews from the PubMed Database

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The terms "Waardenburg syndrome type 2" returned 0 free, full-text review articles on human participants.

 
 
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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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