Hirschsprung disease

Living with

If Hirschsprung disease involves nerve cells, does that mean that a person with Hirschsprung disease will have intellectual disability?

Hirschsprung disease only affects the nerve cells in the colon, not in the brain, so people with the disease usually have normal intellectual capacity. The colon, or large intestine, is the last part of the digestive system and transports digested food and liquid from the small intestine to the rectum. The exception to this is if an individual has Hirschsprung Disease as part of a genetic syndrome that includes intellectual disability. A genetic syndrome is a group of signs and symptoms that occur together and characterize a particular abnormality. If you are concerned that you or your child may have Hirschsprung disease as part of a syndrome that includes intellectual disability speak with your or your child's physician further diagnosis.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/hirschsprung-disease/living-with/3152 • DATE UPDATED: 2016-06-15

References

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

"Hirschsprung Disease Overview" GeneReviews. 01 Oct. 2015. Web. 14 Jun. 2016. http://www.ncbi.nlm.nih.gov/books/NBK1439/

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