Hirschsprung disease

Overview

What is Hirschsprung disease?

Hirschsprung disease is a condition of the colon usually diagnosed in infancy. 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. In Hirschsprung disease the affected person is unable to use muscles in the large intestine, so stool, or fecal matter, cannot be pushed out. This disease usually requires surgery to remove the affected part of the colon. Without surgery, Hirschsprung disease can be life-threatening.

Before surgery, infants with Hirschsprung disease may be unable to pass stool, including the meconium (the baby's first stool, which is a dark green color). They can also have liquid stool (diarrhea) and green vomit. Later, the baby may grow slowly, gain less weight than peers, and have a swollen belly.

After it is treated, there may be constipation, inability to pass stool, or inability to control stool so it is released unexpectedly, called incontinence.

Hirschsprung disease can occur on it's own or as part of a larger genetic syndrome. A genetic syndrome is a group of signs and symptoms that occur together and characterize a particular abnormality. For example Hirschsprung disease can be seen in people diagnosed with Down syndrome, also called Trisomy 21.

Hirschsprung disease is usually first diagnosed by an infant or child's family physician or pediatrician. If you are concerned that your child may have Hirschsprung disease speak with their physician about how to diagnose this condition.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/hirschsprung-disease-8067/overview/3060 • DATE UPDATED: 2016-06-15

References

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

Wesson, David. "Congenital aganglionic megacolon (Hirschsprung disease)" UpToDate. May 2016. Web. 14 Jun. 2016. http://www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease?source=search_result&search=Hirschsprung%E2%80%99s+Disease&selectedTitle=1~66

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