Waardenburg syndrome, type 2d

Common Name(s)

Waardenburg syndrome, type 2d

Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by {2:Read and Newton, 1997}). WS type 2D is caused by mutation in the SNAI2 gene ({602150}). Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; {193510}). For a description of other clinical variants of Waardenburg syndrome, see WS1 ({193500}), WS3 ({148820}), and WS4 ({277580}).
 

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Condition Specific Organizations

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Scientific Literature

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