Rare Case of Waardenburg Syndrome WS Type 2 With Squint(Congenital Esotropia) Superior Rectus Right Eye in a 8-Year-Old Child in Pakistan

Abstract

Waardenburg syndrome (WS) is a rare autosomal dominant disorder accounting for over 2% of congenital deafness cases. It is characterized by sensorineural hearing loss, pigmentary abnormalities of the hair, skin, and eyes, and anomalies in neural crest-derived tissues. We report the first documented case in Pakistan of an 8-year-old girl with WS type 2, presenting with bilateral profound sensorineural hearing loss, a white forelock, synophrys, and broad nasal root, fulfilling clinical diagnostic criteria established by the Waardenburg Consortium. Uniquely, she also exhibited superior rectus squint causing congenital esotropia, surgically corrected at age 6, along with seizures and global developmental delay. Early referral for speech rehabilitation and specialized schooling resulted in marked improvement, allowing integration into mainstream education. This case highlights the importance of recognizing atypical features, implementing early multidisciplinary intervention, and providing genetic counseling in managing WS and related neurocristopathies.