The eye as a window: Early diagnosis of Waardenburg-Shah syndrome in a neonate

Waardenburg-Shah syndrome (Waardenburg syndrome type 4/ WS4), a subtype of Waardenburg syndrome (WS), is a rare neurocristopathy characterized by a constellation of pigmentary anomalies, sensorineural hearing loss and Hirschsprung disease. Ocular manifestations such as iris hypochromia and choroidal hypopigmentation may serve as important early diagnostic clues in neonates. We report a rare case of a 3-day-old neonate presenting with classical features of WS type 4, where ocular findings significantly contributed to early clinical diagnosis. Prompt multidisciplinary intervention facilitated timely surgical management.