This condition occurs in 1 out of every 5,000 live births.

This condition occurs more frequently in boys than in girls, with as many as four boys affected for every girl. Also, children with Down syndrome have a substantially higher risk of having Hirschsprung disease.

Some cases of Hirschsprung disease can be related to a genetic (inherited) cause. There is an increased chance that a couple will have a child with Hirschsprung disease if one of the parents has the condition, and the chance is higher if it is the mother who has the condition.

If a family has a child with Hirschsprung disease, there is a 3 percent to 12 percent chance that another baby will also have it.

Eighty percent of children with Hirschsprung disease show symptoms in the first 6 weeks of life. Infants suffering from the disease usually become symptomatic during the first 24 to 48 hours of life.

However, children with only a short segment of intestine that lacks normal nerve cells may not show symptoms for several months or even years.

While most children experience a range of symptoms, the following are the most common:

• Not having a bowel movement in the first 48 hours of life
• Gradual marked swelling of the abdomen
• Gradual onset of vomiting
• Fever

Children who do not have early symptoms may have the following symptoms:

• Sepsis (overwhelming infection)
• Constipation that worsens over time
• Small, watery stool
• Loss of appetite
• Delayed growth

Diagnostic tests and a careful physical examination are required to diagnose Hirschsprung disease. These include the following:

Abdominal X-ray. An abdominal x-ray may indicate a bowel blockage. This study will allow your doctor to suspect the diagnosis, but does not definitively diagnose it.

Contrast enema. This test uses X-rays that allow your doctor to examine the large intestine (colon) for abnormalities. A contrast dye is placed into the baby’s rectum so that the intestine will show up on an X-ray.

Rectal biopsy. This procedure will establish the diagnosis of Hirschsprung disease. A sample of the cells in the rectum are taken and then looked at under a microscope. Confirmation of Hirschsprung is based on the absence of nerve cells, called ganglion cells, and the presence of nonmyelinated nerves in the biopsy segment.

In infants, a suction rectal biopsy can be done at the bedside. Since there are no sensory nerves at the site of biopsy, this is not painful. When a suction biopsy is inconclusive, surgical biopsy is performed under general anesthesia in the operating room.

Anorectal manometry. This determines whether normal reflexes involving the rectum and the anus are present. Used only in older children, the test can be performed at the bedside.

All children with Hirschsprung disease require surgical treatment. You can read more about our treatments here.

Even after surgery, children with Hirschsprung disease may experience constipation, fecal incontinence or enterocolitis (inflammation or infection of the intestine), which affect their long-term outcomes. However, after a successful surgery and long-term follow-up care with the clinical team, most children are able to achieve normal bowel habits.

Patients who suffer from constipation, fecal incontinence or enterocolitis may need a multidisciplinary evaluation to overcome these challenges. This typically includes a combined evaluation by colorectal surgeons and specialists in motility (motion of the digestive system). When necessary, the care plan may include pelvic floor therapy and nutritional support. A number of new treatment options are available when appropriate, and include motility testing, sacral nerve stimulation, and biofeedback (therapy to help improve the strength and coordination of pelvic floor muscles that are responsible for bowel and bladder control). The collaborative care team will work with you to determine the best treatment options to help your child overcome whatever challenges he or she faces, and achieve the best quality of life possible.