Hirschsprung disease (HD) is when an area of the colon (large intestine) cannot push stool through as it should. This can lead to a partial or full blockage.
HD is present at birth. It is caused by missing nerve cells in the muscles of the colon. The nerve cells are needed to control muscle contractions that help move waste out of the body. It is not known why this happens. In some people, it may be due to a faulty gene.
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HD is more common in boys. The risk of HD is also higher in children who have:
Symptoms often show soon after birth. HD that is less serious may not be noticed until later in life.
In newborns, problems may be:
Problems found in older infants and children are:
HD is often diagnosed when an infant fails to have a bowel movement within 24 hours of birth. In older children, the doctor will ask about your child's symptoms and health history. A physical exam will be done.
The colon may need to be viewed. This can be done using an x-ray and special contrast material.
The bowel tissue may need to be tested. This can be done with a biopsy.
HD needs to be treated with surgery. The earlier it is done, the better the results may be.
The goal of surgery is to remove the part of the colon that does not work the right way. Choices are:
There are no known guidelines to prevent this health problem.
International Foundation for Functional Gastrointestinal Disorders
National Institute of Diabetes and Digestive and Kidney Diseases
About Kids Health—The Hospital for Sick Children
Burkardt DD, Graham JM Jr, et al. Advances in Hirschsprung disease genetics and treatment strategies: an update for the primary care pediatrician. Clin Pediatr (Phila). 2014 Jan;53(1):71-81.
Hirschsprung disease. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/hirschsprung-disease. Accessed November 5, 2020.
Hirschsprung disease. Family Doctor—American Academy of Family Physicians website. Available at: https://familydoctor.org/condition/hirschsprungs-disease. Accessed November 5, 2020.
Hirschsprung’s disease treatment. UCSF Benioff Children's Hospital website. Available at: https://www.ucsfbenioffchildrens.org/conditions/hirschsprungs_disease/treatment.html. Accessed November 5, 2020.
What I need to know about Hirschsprung disease. National Institute of Diabetes and Digestive and Kidney Diseases website. Available at:
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Accessed November 5, 2020.
Last reviewed September 2020 by EBSCO Medical Review Board Kari Kassir, MD