Hirschsprung's Disease and Waardenburg Syndrome

Posted by duck14 @duck14, Nov 21, 2011

I’m interested in learning if there’s a relationship between Hirschsprung’s Disease and Waardenburg Syndrome. I was born with Hirschsprung’s Disease. Is it possible it is a symptom of Waardenburg? It appears to me I may have fairly uncommon traits one could attribute to Waardenburg – the dual colored iris and wide nose bridge. There’s also a history of hearing loss in my family – that’s the issue; am I susceptible to hearing loss too? Any and all thoughts are appreciated.

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Yes, Waardenburg is a related condition to Hirschsprungs. Please visit http://chakravarti.igm.jhmi.edu/pro_site/AravindaChakravartiLab/Disease_Genetics.html to read about it.


Hi! yes HD and Waardenburg syndrome are related. It is called Shah-Waardenburg syndrome. I have a section on it in the book I wrote on HD. You can visit my website to read our story: http://www.hirschsprungsdiseasehelp.org/

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