Revisiting the W-Index and Waardenburg Syndrome: A Retrospective Review of Waardenburg Syndrome Diagnoses at a Single Site Hearing Loss Clinic and the Sensitivity, Specificity, and Genotype-Phenotype Correlations of an Elevated W-Index.

Abstract excerpt

Waardenburg syndrome (WS) is a genetically heterogenous condition characterized by variable clinical features including congenital sensorineural hearing loss, pigmentation differences, dysmorphic features including dystopia canthorum, and other manifestations. Pathogenic variants in WS genes, including PAX3, MITF, SOX10, EDNRB, EDN3, and KITLG, account for approximately 3% of congenital hearing loss cases. The...

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