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“Children experience tummy troubles occasionally. Sometimes they eat something and other times they don’t feel well. From time to time, everything from scurvy to occasional scurvy can be typical parts of life.”

Sometimes tummy pains or difficult bathroom trips are a sign that something is more serious. If your child has trouble emptying their bowels, they might have a disease.

If a child is diagnosed with this condition, parents can make informed decisions by defining it and detailing how it is treated.

Hirschsprung disease is a birth defect that affects the large intestines. Typically, nerve cells found in the intestines aid in fully emptying the bowels.

The intestines are not functioning properly because some of the nerve cells are missing. The stool should move until it reaches the part of the intestines that does not have nerve cells. The stool stops moving at that point, which leads to obstruction.

There are multiple types of Hirschsprung disease, but the most common type, which is present in roughly 80% of all children with the disease, is short-segment Hirschsprung disease. In this condition, nerve cells are missing in the rectum and also potentially in the lower part of the colon.

Other types of the disease can be included.

  • Long-segment Hirschsprung disease: nerve cells are missing from the rectum as well as the longer part of the colon.
  • Total colonic Hirschsprung disease: nerve cells are missing from the rectum and the entire colon. But nerve cells are present in the small intestines.
  • Small intestinal Hirschsprung disease: nerve cells are missing from the rectum, colon, and the end of the small intestines.
  • Total intestinal Hirschsprung disease: nerve cells are missing from both the rectum and colon and potentially all or nearly all of the small intestine.

About 1 in 5,000 newborns is born with Hirschsprung disease. Some people are more likely to be affected by the condition than others. Boys are three to four times more likely to have the condition than girls, according to National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).

There is a chance that a child will be born with a condition called Hirschsprung disease if there is a family history of it.

Sometimes, Hirschsprung disease is present with other conditions.

In particular, 30% of children who have Hirschsprung disease at birth are born with other atypical conditions that affect another part of the body, such as the head, face, heart, or hands. Sometimes the disease is present in babies born with Down syndrome or another chromosomal conditions.

When nerve cells in the intestines do not develop properly before birth, Hirschsprung disease can occur. Currently, there’s no clear understanding of what causes this condition, but some experts have suggested that certain genes could determine whether a child develops Hirschsprung disease.

Symptoms of Hirschsprung disease can sometimes appear within hours of birth, according to the NIDDK. The most obvious sign that this condition might be present is if a baby has not had a bowel movement within the first 48 hours after being born. However, symptoms can vary slightly depending on when the disease begins to progress.

Hirschsprung disease symptoms in newborns

  • There is vomit.
  • The belly is swollen.
  • Difficult to eat
  • The baby had a finger in his rectum.

Hirschsprung disease symptoms in older babies, children, and adults

Some people with the disease are not diagnosed until later in life. Older babies and children have some common symptoms.

  • Taking oral laxatives does not improve chronic constipation.
  • The belly is swollen.
  • It is also known as failure to thrive for infants or children who are less than expected weight.
  • enterocolitis is a disease.

The above symptoms can be caused by other conditions for older children. healthcare professionals may not assume that the cause is the disease The same symptoms are seen in older babies and children as they are in adults.

According to the National Organization for Rare Diseases (NORD), usually 85% to 90% of people are diagnosed with Hirschsprung disease in early infancy because of a failure to pass the first stool, or meconium.

A rectum biopsy is the most common diagnostic tool used to determine if there is a disease.

“Doctors use this test to screen tissue for the presence of nerve cells. If the cells are missing, it’s likely that there is a disease present. Further screenings can include abdominal X-rays to determine if there is an obstruction in the ile and how pervasive it is.”

Other testing can include an anorectal manometry to determine if the rectum is functioning properly, and a contrast or barium enema to determine the health and function of the large intestines.

A person with a disease may have other cases of atypical development. A geneticist might be brought in to determine the underlying diagnosis.

Most people with the disease will have surgery. Different procedures might be used for the type of disease.

Pull-through procedure and ostomy surgery are the two main types of surgery for Hirschsprung disease.

Pull-through procedure

During a pull-through procedure, a surgeon removes the part of the large intestines that’s missing nerve cells. Then the remaining intestines are surgically connected to the rectum. This surgery is done either laparoscopically or via open surgery.


This surgery is usually recommended for people who have more serious complications like perforations, megacolon, or Hirschsprung-associated enterocolitis is a disease.. An ostomy essentially allows the intestines time to heal. The procedure may sometimes be recommended before performing a pull-through procedure.

An ostomy is a surgery that involves the creation of a small or large sputum to connect the large and small sputums. The waste will pass through the stooge and into the rectum.

Until the intestines have healed enough to complete a pull-through procedure, this is a temporary situation.

Stool appearance can vary depending on the type of Hirschsprung disease. For people with the short-segment type, stool may be small or watery. For those who develop enterocolitis is a disease., explosive diarrhea also commonly occurs.

What is the life expectancy for someone with Hirschsprung disease?

Scientific advances have made it less likely that a fatal condition is a Hirschsprung disease. Babies can live full lives if they are diagnosed early.

But it’s important to know that even after surgery, it’s not uncommon for some people to still experience complications such as digestive upset, constipation, or even enterocolitis is a disease..

What are the three clinical manifestations of Hirschsprung disease in an infant?

The first stool can be a sign of a baby having a disease. vomiting and a swollen abdomen can be additional signs.

Can Hirschsprung disease be cured?

The only cure for the disease is surgery. Pull-through surgery to remove the affected portions of the intestines can be used to create a ostomy to divert waste from the body.

What is the main cause of Hirschsprung disease?

Most experts believe that several different genetic mutations linked to incomplete nerve cell development in the intestines causes Hirschsprung disease. According to research, roughly 50% of people that were diagnosed have one of those genetic abnormalities.

Most people are caught with hirssprung disease very early in life because they fail to pass the first stool within 48 hours of birth. This is the most common symptom of the condition.

In extreme cases, Hirschsprung disease can lead to death. Most people go on to live full lives when the condition is treated.