Waardenburg syndrome type 1: A case report

Waardenburg syndrome (WS) is an autosomal dominant disorder caused by mutations in genes involved in the development of neural crest cells, affecting pigmentation, hearing, and craniofacial structures. This article presents a case of a 2-year-old girl diagnosed with WS type 1, who exhibited key characteristics such as a white forelock, heterochromia iridum, and dystopia canthorum, without hearing loss or other systemic abnormalities. The absence of hearing impairment does not exclude the diagnosis as this case highlights the variability in clinical presentation, making a comprehensive approach crucial for diagnosis and management. This case emphasizes also the need for early assessment, ongoing audiological monitoring, and multidisciplinary care to improve the patient’s quality of life.