Waardenburg syndrome (WS) is a rare genetic disorder that is further divided into four subtypes with distinguishing clinical manifestations, categorized by phenotypic variations based on activation or deactivation of six specific gene types. The criteria for clinical diagnosis are established based on these phenotypic variants. While key clinical features may cause suspicion of WS, genetic testing confirms the diagnosis. Pigmentary defects are one of the hallmark features of WS while some individuals may exhibit sensorineural hearing loss, which can be progressive. Audiological treatment is essential to mitigate hearing loss and to minimize speech and language deficits as well as behavior and socioemotional development. Associated complications include musculoskeletal abnormalities and Hirschsprung disease. This article aims to discuss the role of the pediatric nurse practitioner in the early identification, diagnosis, treatment, and long-term management of affected children in the primary care setting.
Keywords: Waardenburg syndrome; autosomal dominant; genetic mutation; pigmentary defects; sensorineural hearing loss.
Copyright © 2019 National Association of Pediatric Nurse Practitioners. Published by Elsevier Inc. All rights reserved.