Hirschsprung’s Disease

At a Glance

  • Hirschsprung’s disease is a rare condition that people are born with
  • Symptoms usually appear in newborns, but may also appear in childhood or adulthood
  • Diagnosis is usually made within the first few months or years of life
  • Sometimes diagnosis is made in adulthood
  • Tests confirm the diagnosis
  • Treatment is surgical
  • Some symptoms may persist after surgery and need medical management

There are two anal sphincter muscles: an internal anal sphincter that is part of the intestines, and an external anal sphincter that is part of the pelvic floor muscles.

The internal anal sphincter normally stays closed to prevent the leakage of gas or liquid from the rectum, but when the rectum fills up with gas or fecal material, a reflex causes it to open to allow the bowel movement to pass through.

The nerves that this reflex depends on are sometimes missing at birth, with the result that the internal anal sphincter stays tightly closed and bowel movements cannot occur. This congenital (birth) defect is called Hirschsprung’s disease.

Learn more about Hirschsprung’s disease

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IFFGD is a nonprofit education and research organization. Our mission is to inform, assist, and support people affected by gastrointestinal disorders.

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