Hirschsprung disease is a blockage in the large intestine. It is caused by an lack of nerve cells in a portion of the intestine. A person is born with this condition.

What is going on in the body?

A person with this disease is missing the nerve cells known as ganglia in part or all of the large bowel. These cells are absent at birth. The normal function of these cells is to enable the bowel muscle to contract. This motion pushes the stool through the intestine. Stool cannot pass through the segment of the bowel where the nerves are missing. As a result, stool collects at that point causing an intestinal blockage.

What are the causes and risks of the disease?

This disease is present at birth. It occurs because some nerve cells fail to develop in portions of the large bowel while the fetus is growing in the uterus. This disease may be inherited. Most of the time, however, the cause is unknown. It is more common in boys than girls. This disease may also be associated with other conditions that are present at birth such as Down syndrome.