Waardenburg syndrome type 3

Common Name(s)

Waardenburg syndrome type 3, Klein-Waardenberg's syndrome

Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by {16:Read and Newton, 1997} and {15:Pingault et al., 2010}). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' ({5:Gorlin et al., 1976}). Clinical Variability of Waardenburg Syndrome Types 1-4 Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1; {193500}) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4; {277580}), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by {16:Read and Newton, 1997} and {15:Pingault et al., 2010}).
 

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Condition Specific Organizations

Following organizations serve the condition "Waardenburg syndrome type 3" 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 type 3" returned 1 free, full-text research articles on human participants. First 3 results:

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

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The terms "Waardenburg syndrome type 3" returned 0 free, full-text review articles on human participants.

 
 
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