Case report shows early diagnosis importance of Waardenburg syndrome in a 13-year-old male with notable features, indicating early intervention benefits.
Waardenburg syndrome (WS) is a rare genetic disorder with autosomal dominant inheritance and an incidence of 1 in 40,000. We report a rare case of WS which was diagnosed incidentally to emphasize the importance of early diagnosis and management in cases of WS. A 13-year-old male with synophrys, dystopia canthorum, a striking bright blue iris in the left eye, and sensorineural hearing loss with PAX-3 mutation.
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Rawat et al. (2026) studied this question.
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