Hirschsprung Disease: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Hirschsprung Disease?
A pediatric surgeon, a surgeon who operates on babies and children, treats Hirschsprung disease. A pediatrician, a children's doctor, or a pediatric gastroenterologist, a children's digestive doctor, often helps with diagnosis and follow-up. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Hirschsprung disease?
Hirschsprung disease is a condition that a baby is born with. Nerves are missing from part of the bowel, also called the large intestine. Nerves between the muscle layers trigger the squeezes that move waste along. Areas without these nerves cannot push material through, which causes a blockage. Waste builds up behind the blockage, and the bowel and belly swell. Hirschsprung disease causes about 25% of all newborn intestinal blockages.
Symptoms
Some babies have signs of a blocked bowel soon after birth. These can include:
- Not having a first bowel movement within 48 hours after birth.
- Green or brown vomit.
- A swollen belly.
- Problems feeding.
- Explosive stools or diarrhea after a doctor puts a finger into the baby's rectum.
- Jaundice, which is yellow skin, and poor weight gain.
Some children are diagnosed when they are older. In older infants and children, common symptoms include constipation that does not get better with laxatives taken by mouth, and a swollen belly. Other signs are poor nutrition and failure to thrive, which means gaining less weight than expected. Constipation can look like other conditions. Doctors may not suspect Hirschsprung disease right away. In rare cases, it is not found until adulthood.
Causes and who gets it
Hirschsprung disease happens when nerve cells in the intestines do not develop normally before a baby is born. Experts are still studying what affects how these nerve cells grow. Certain genes increase the chance that a child will have it. It is sometimes linked to other inherited or congenital conditions, such as Down syndrome. It occurs 3 to 4 times more often in males than in females.
How doctors diagnose it
Milder cases may not be found until the baby is older. During an exam, the provider may feel loops of bowel in the swollen belly. A rectal exam may show tight muscle tone in the rectal muscles. Tests that help diagnose it may include:
- An abdominal x-ray, a picture of the belly.
- Anal manometry, where a balloon is inflated in the rectum to measure pressure.
- A barium enema, a special x-ray of the bowel.
- A rectal biopsy, which studies a small tissue sample from the rectum.
Treatment
The abnormal section of bowel must be taken out with surgery. Doctors typically use an operation called a pull-through procedure. A surgeon removes the part of the large intestine that is missing nerve cells. The surgeon then connects the healthy part of the large intestine to the anus. Some children first have ostomy surgery. A surgeon makes an opening called a stoma on the belly, and waste leaves the body through it. The stoma is usually temporary. Children with Hirschsprung disease most often feel better after surgery. About half of children may have ongoing problems after surgery. These include constipation, bowel control problems, enterocolitis, or failure to thrive. Children treated early, or with a shorter segment of bowel involved, have a better outcome.
When to see a doctor
Contact your child's provider if your child has symptoms of Hirschsprung disease. Also call if your child has belly pain or other new symptoms after treatment. Enterocolitis is an infection and swelling of the intestines. Go to the hospital right away, or call 911, if your child has signs of it. These signs are severe and include a swollen belly, foul-smelling watery diarrhea, lethargy (being very sleepy and weak), and poor feeding. Call 911 or go to the emergency room if your newborn vomits green or brown fluid, which can mean a blocked bowel. Also call 911 or go to the emergency room if your child has trouble breathing or bluish or grey skin.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. A direct primary care doctor can review a child's symptoms and refer the family to a specialist. After surgery, they can help with follow-up, since your child's doctor may recommend more tests and treatments if problems continue.
Common questions
Does surgery fix Hirschsprung disease?
Surgery removes the part of the large intestine that is missing nerve cells, and children most often feel better afterward. About half of children may have ongoing problems, such as constipation or bowel control problems.
Do genes cause Hirschsprung disease?
Genes can play a role. Experts think that several different genes may play a role.
Can adults have Hirschsprung disease?
Yes, but it is rare. Adults typically have a history of belly swelling and constipation that does not get better with laxatives taken by mouth.
What is enterocolitis?
Enterocolitis is inflammation and infection of the intestines. It can happen before surgery and sometimes in the first 1 to 2 years afterward. It can be life-threatening, so go to the hospital right away if symptoms appear.
Sources
- MedlinePlus - Hirschsprung disease
- National Institute of Diabetes and Digestive and Kidney Diseases - Symptoms & Causes of Hirschsprung Disease
- National Institute of Diabetes and Digestive and Kidney Diseases - Treatment for Hirschsprung Disease
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
