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Hirschsprung's disease - Overview

Alternative Names

Congenital megacolon

Definition of Hirschsprung's disease:

Hirschsprung's disease is a blockage of the large intestine due to improper muscle movement in the bowel. It is a congenital condition, which means it is present from birth.

Causes, incidence, and risk factors:

Muscle contractions in the gut help digested materials move through the intestine. This is called peristalsis. Nerves in between the muscle layers trigger the contractions.

In Hirschsprung's disease, the nerves are missing from a part of the bowel. Areas without such nerves cannot push material through. This causes a blockage. Intestinal contents build up behind the blockage, causing the bowel and abdomen to become swollen.

Hirschsprung's disease causes about 25% of all newborn intestinal blockages. It occurs five times more often in males than in females. Hirschsprung's disease is sometimes associated with other inherited or congenital conditions, such as Down syndrome.

  • Reviewed last on: 11/2/2009
  • Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Kessmann J. Hirschsprung's Disease: Diagnosis and Management. Am Fam Phys. 2006;74:1319-1322.

Wyllie R. Motility disorders and Hirschsprung disease. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 329.

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