Hirschsprung’s Disease Synopsis

Hirschsprung's disease is a condition that affects the large intestine (colon) and causes problems with passing stool. The condition is present at birth (congenital) as a result of missing nerve cells in the muscles of the baby's colon. Without these nerve cells stimulating gut muscles to help move contents through the colon, the contents can back up and cause blockages in the bowel.

A newborn who has Hirschsprung's disease usually can't have a bowel movement in the days after birth. In mild cases, the condition might not be detected until later in childhood. Uncommonly, Hirschsprung's disease is first diagnosed in adults.

Signs and symptoms of Hirschsprung's disease vary with the severity of the condition. Usually signs and symptoms appear shortly after birth, but sometimes they're not apparent until later in life.

Typically, the most obvious sign is a newborn's failure to have a bowel movement within 48 hours after birth.

Other signs and symptoms in newborns may include:

  • Swollen belly
  • Vomiting, including vomiting a green or brown substance
  • Constipation or gas, which might make a newborn fussy
  • Diarrhea
  • Delayed passage of meconium — a newborn's first bowel movement

In older children, signs and symptoms can include:

  • Swollen belly
  • Chronic constipation
  • Gas
  • Failure to thrive
  • Fatigue

Treatment is surgery to bypass or remove the diseased part of the colon.