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Waardenburg syndrome type 4B

Synonyms
WAARDENBURG SYNDROME, TYPE 4B, WITH HIRSCHSPRUNG DISEASE; Waardenburg Syndrome Type IVB

Summary

Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by Read and Newton, 1997). WS type 4B is caused by mutation in the EDN3 gene (131242). WS type 4 is genetically heterogeneous (see WS4A; 277580). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS2 (193510), and WS3 (148820). [from OMIM]

Available tests

44 tests are in the database for this condition.

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Clinical tests (43 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: ET-3, ET3, HSCR4, PPET3, WS4B, EDN3
    Summary: endothelin 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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