Hirschsprung disease


Are there any other diseases that look a lot like Hirschsprung disease?

Hirschsprung disease can be confused with neuronal intestinal dysplasia, chronic intestinal pseudoobstruction, duodenal atresia, duodenal stenosis, Crohn's disease, diverticulitis, or irritable bowel. All of these diseases involve abnormalities of the colon similar to Hirschsprung disease.

In some cases Hirschsprung disease can also happen as part of a genetic syndrome. A genetic syndrome is a group of signs and symptoms that occur together and characterize a particular abnormality. When Hirschsprung disease occurs as part of a syndrome this is called "syndromic" Hirschsprung disease. Some syndromes known to cause Hirschsprung disease are Waardenburg syndrome, Mowat-Wilson syndrome, Down Syndrome or congenital central hypoventilation syndrome.

If you are concerned that you or your child may have Hirschsprung disease has part of a syndrome ask your doctor for a referral to a genetic counselor or locate a genetic counselor near you using the Find a Genetic Counselor tool on the National Society of Genetic Counselors website.

"Hirschsprung Disease" Genetics Home Reference. Aug. 2012. https://ghr.nlm.nih.gov/condition/hirschsprung-disease#genes

"Hirschsprung’s Disease" National Organization for Rare Disorders. 2005. https://rarediseases.org/rare-diseases/hirschsprungs-disease/#standard-therapies

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