Waardenburg syndrome type 2C

Synonyms: Waardenburg Syndrome Type IIC

Summary

Waardenburg syndrome type II (WS2) 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 (Selicorni et al., 2002). WS type 2C (WS2C) maps to chromosome 8p. 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). [from OMIM]

Available tests

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Clinical tests (1 available)

Molecular Genetics Tests

Sequence analysis of the entire coding region (1)

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Coriell Institute for Medical Research

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