Waardenburg syndrome is named after Dutch ophthalmologist Petrus Johannes Waardenburg. He found and described the syndrome in 1951, though he mostly described type 1. Swiss ophthalmologist David Klien also made contributions to the knowledge and descriptions of Waardenburg syndrome types. An episode of the TV show Bones featured a character with Waardenburg syndrome. Several novels have major characters with this syndrome including Reconstructing Amelia, Closer Than You Think, and Shock. Also, popular vlogger Stef Sanjati has Waardenburg syndrome.

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