Hirschsprung’s disease is a birth defect in which certain nerve cells in a part of the large intestine are missing, and the muscles in that area can’t relax. Because the muscle contractions that normally push food and digestive waste through that area can’t occur, stool gets trapped, and inflammation and constipation develop.

Hirschsprung’s disease may be a sudden, life-threatening condition, or it may be a long-term problem that is less serious but harder to diagnose. Symptoms of Hirschsprung’s disease include intermittent vomiting, diarrhea, fever, and a severely swollen belly. It is usually diagnosed in infancy. If it is not diagnosed until later in life, other symptoms may appear, such as loss of appetite, lack of the urge to pass stools, and poor overall health.

Hirschsprung’s disease is treated with surgery to remove the affected part of the intestine.