Waardenburg Syndrome Type 1

Watchlist

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Retrieved

2022-04-26

Source

Gard

Trials

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Genes

PAX3, MITF, SNAI2, AEBP2, WFS1, RET, EDNRB, ABO, ASS1, EYA4, FN1, GJB2, SERPINF2, SOX10, DCTN6, CISD2

Drugs

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Waardenburg syndrome type 1 is a genetic condition characterized by eyes that appear widely spaced, congenital hearing loss, and patchy pigment disturbances of the iris, hair and skin. Mutations in the PAX3 gene cause the symptoms observed in this condition. Treatment is symptomatic and supportive. Waardenburg syndrome type 1 is inherited in an autosomal dominant manner.