Dictionary of Human Evolution and Biology

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Waardenburg Syndrome, Type 1

Heritable autosomal dominant defect characterized by wideset eyes, wide nose, displacement of the epicanthic fold, pigment anomalies such as eyes that differ in color, white forelock and eyelashes, and variable hearing los. Defect is in paired box gene 3 (PAX3). Homeobox genes regulate structural development in embryogenesis. Indications of a paternal age effect. There are several other forms of WS, all inherited in an autosomal dominant fashion. Rare.

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