Waardenburg Syndrome Type-1 – A Rare Case Report

Waardenburg Syndrome (WS) is a rare genetic disorder characterized by auditory-pigmentary abnormalities, arising from defective neural crest cell migration. It follows an autosomal dominant inheritance pattern and has four recognized clinical subtypes. Type 1 is linked to mutations in the PAX3 gene. 3- Case Report: year-old female child with delayed speech and language milestones and bilateral profound sensorineural hearing loss. Physical examination revealed dystopia canthorum, heterochromia iridis, synophrys, and pigmentary skin changes. Genetic analysis conrmed a heterozygous PAX3 gene mutation (c.166C>T; p.Arg56Cys), consistent with Waardenburg Syndrome Type 1. Timely recognition of characteristic clinical features and genetic conrmation is crucial in the Conclusion: diagnosis of WS. Early audiological rehabilitation and multidisciplinary management, along with genetic counseling, are essential to improve functional outcomes and prevent recurrence.