Children's Hospital Colorado

Hirschsprung Disease

What is Hirschsprung disease?

Hirschsprung disease is a congenital defect, meaning that a person is born with it. This defect most commonly affects the lower part of the large intestine, also called the colon. Babies that are born with Hirschsprung disease do not have ganglion cells in certain portions of the intestine, which are the nerve cells in the rectum and colon that regulate bowel movements. The absence of these cells is called aganglionosis.

When a baby has Hirschsprung disease, they can't poop. This inability to poop is very uncomfortable for the baby and can cause their abdomen to expand and swell, which is known as abdominal distension. A blocked or obstructed colon can also lead to vomiting and inflammation of the colon, called colitis. If the problem is not addressed, this can cause infections and eventually lead to death.

Hirschsprung disease can vary widely between patients, and the severity of the disease often depends on how much of the colon is affected by aganglionosis. To treat Hirschsprung disease, the affected part of the colon must be removed through surgery.

What causes Hirschsprung disease in babies?

Hirschsprung disease is the result of a disorder that starts when the baby is still developing inside the mother's womb. This disorder affects the enteric nervous system, which controls the function of the gastrointestinal tract from the esophagus to the anus. The enteric nervous system helps swallowed food move into your stomach, where it is broken down and digested, then through your small and large intestine, and eventually out of your body as stool.

During the development of a baby with Hirschsprung disease, the large intestine does not fully develop, and the nerve cells that usually form on the intestine do not form. The reason for this is unknown. Without these cells, the colon cannot pass the stool and it begins to build up.

Who gets Hirschsprung disease?

Hirschsprung disease affects about 1 in every 5,000 newborns. The disease can be genetic, meaning that it can be passed down from a parent or relative. Hirschsprung disease is four times more common in boys than it is in girls.