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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Condition Specific Organizations

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

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

Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.
 

Author(s): Xue-Ping Wang, Ya-Lan Liu, Ling-Yun Mei, Chu-Feng He, Zhi-Jie Niu, Jie Sun, Yu-Lin Zhao, Yong Feng, Hua Zhang

Journal: J. Hum. Genet.. 2018 May;63(5):639-646.

 

Mutation in the gene encoding microphthalmia-associated transcription factor (MITF) lead to Waardenburg syndrome 2 (WS2), an autosomal dominantly inherited syndrome with auditory-pigmentary abnormalities, which is clinically and genetically heterogeneous. Haploinsufficiency may be ...

Last Updated: 31 Dec 1969

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Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.
 

Author(s): Li Wang, Litao Qin, Tao Li, Hongjian Liu, Lingcao Ma, Wan Li, Dong Wu, Hongdan Wang, Qiannan Guo, Liangjie Guo, Shixiu Liao

Journal: Mol Med Rep. 2018 Jan;17(1):172-178.

 

Waardenburg syndrome (WS) is an auditory‑pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. The present study aimed to investigate the underlying molecular pathology and provide a method of prenatal diagnosis of WS in Chinese families. ...

Last Updated: 31 Dec 1969

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Waardenburg Syndrome: An Unusual Indication of Cochlear Implantation Experienced in 11 Patients.
 

Author(s): Feda Bayrak, Tolgahan Çatlı, Görkem Atsal, Taşkın Tokat, Levent Olgun

Journal: J Int Adv Otol. 2017 Aug;13(2):230-232.

 

The aim of this study was to present the surgical findings of children with Waardenburg syndrome (WS) and investigate speech development after cochlear implantation in this unique group of patients.

Last Updated: 31 Dec 1969

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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 5 free, full-text review articles on human participants. First 3 results:

Review and update of mutations causing Waardenburg syndrome.
 

Author(s): Véronique Pingault, Dorothée Ente, Florence Dastot-Le Moal, Michel Goossens, Sandrine Marlin, Nadège Bondurand

Journal: Hum. Mutat.. 2010 Apr;31(4):391-406.

 

Waardenburg syndrome (WS) is characterized by the association of pigmentation abnormalities, including depigmented patches of the skin and hair, vivid blue eyes or heterochromia irides, and sensorineural hearing loss. However, other features such as dystopia canthorum, musculoskeletal ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.