Definition & Facts for Hirschsprung Disease

In this section:

• What is Hirschsprung disease?
• Are there different types of Hirschsprung disease?
• How common is Hirschsprung disease?
• Who is more likely to have Hirschsprung disease?
• What other conditions do people with Hirschsprung disease have?
• What are the complications of Hirschsprung disease?

What is Hirschsprung disease?

Hirschsprung disease is a birth defect in which some nerve cells are missing in the large intestine, so a child’s intestine can’t move stool normally and becomes blocked.

Are there different types of Hirschsprung disease?

The major types of Hirschsprung disease are

• short-segment Hirschsprung disease, in which nerve cells are missing from the rectum and sometimes the lower part of the colon, called the sigmoid colon.
• long-segment Hirschsprung disease, in which nerve cells are missing from the rectum and a longer part of the colon than in short-segment Hirschsprung disease, but nerve cells are present in at least part of the colon.
• total colonic Hirschsprung disease, in which nerve cells are missing from the rectum and the entire colon, but are present in the end of the small intestine.
• small intestinal Hirschsprung disease, in which nerve cells are missing from the rectum, colon, and the end of the small intestine, but are present in the rest of the small intestine.
• total intestinal Hirschsprung disease, in which nerve cells are missing from the rectum, colon, and all, or nearly all, of the small intestine.
  

In a child with Hirschsprung disease, stool moves through the intestines until it reaches the part lacking nerve cells. At that point, the stool moves slowly or stops.

About 80% of children with Hirschsprung disease have the short-segment type.¹ In about 5% to 10% of children with Hirschsprung disease, nerve cells are missing from all of the large intestine and sometimes from part of the small intestine.²

How common is Hirschsprung disease?

About 1 in 5,000 newborns has Hirschsprung disease.³

Who is more likely to have Hirschsprung disease?

Hirschsprung disease is more likely to affect

• boys. Hirschsprung disease is about 3 to 4 times more common in boys than in girls.^1,4
• children who have a sibling or parent with Hirschsprung disease.
• infants and young children. Hirschsprung disease is present at birth. Some children develop signs and symptoms and are diagnosed shortly after birth. However, others may develop symptoms and be diagnosed later in infancy or early childhood. About half of all children with Hirschsprung disease are diagnosed in the first year of life.^1,5 About 80% are diagnosed by age 7.^1,5

Hirschsprung disease may occur in children of any race or ethnicity.

What other conditions do people with Hirschsprung disease have?

About 30% of children born with Hirschsprung disease also have other conditions, such as^1,6

• birth defects that affect other parts of the body, such as the heart, head or face, hands, or digestive tract
• Down syndrome and certain other chromosomal disorders
  

What are the complications of Hirschsprung disease?

Hirschsprung disease may lead to Hirschsprung-associated enterocolitis and other complications.

Hirschsprung-associated enterocolitis

The most common complication of Hirschsprung disease is Hirschsprung-associated enterocolitis, a condition in which the intestines become inflamed. This complication may occur before or after a child has surgery to treat Hirschsprung disease.

Symptoms of Hirschsprung-associated enterocolitis may include

• swelling of the abdomen
• fever
• diarrhea
• vomiting
• lack of energy
• rectal bleeding
• shock

Anyone with Hirschsprung disease who has symptoms of Hirschsprung-associated enterocolitis needs to go to the hospital right away. This condition can be life-threatening.

Anyone with Hirschsprung disease who has symptoms of Hirschsprung-associated enterocolitis needs to go to the hospital right away.

Other complications

Other possible complications of Hirschsprung disease include

• soiling, or when a child has accidental bowel movements in their underwear
• megacolon, or severe constipation and swelling of the intestine
• malnutrition, or when a child doesn’t get enough vitamins, minerals, and other nutrients to grow and be healthy
• perforation, or a hole in the wall of the intestine, which is more common in newborns than in older children

References