Hirschsprung Disease: Symptoms & Signs

Medically Reviewed on 9/10/2019

Hirschsprung disease is congenital disease of the intestine in newborns. In Hirschsprung disease, certain nerve cells in the large intestine (colon) are lacking, and the body is unable to expel stool from the intestine.

Signs and symptoms associated with Hirschsprung disease include a newborn who is unable to pass stool (no bowel movement within 48 hours after birth), failure to thrive, swollen abdomen, abdominal pain, and vomiting.

Cause of Hirschsprung disease

Physicians do not understand the cause of the lack of development of the nerve cells in the colon in Hirschsprung disease. Some people inherit the disease, and genetic mutations have also been described in others with the condition. However, in about 50% of people with Hirschsprung disease, the cause is not known.

Other hirschsprung disease symptoms and signs

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Kasper, D.L., et al., eds. Harrison's Principles of Internal Medicine, 19th Ed. United States: McGraw-Hill Education, 2015.