saudigastro.com/patients/hirschsprung-disease
Category
Serious
Red flags
4
This article is educational and does not replace your doctor's advice. Seek urgent care for any red-flag symptoms.
What is it?
In Hirschsprung disease (say "HIRSH-sprung"), the nerve cells (ganglion cells) that make the bowel muscles squeeze in a coordinated way are missing from the last part of the large bowel, and sometimes further. That section cannot relax and push stool along, so stool builds up behind it and the bowel above becomes widened. The condition is present from birth. Most babies are diagnosed in the newborn period, but milder forms can be found later in childhood.
How common is it?
Hirschsprung disease is rare. It is more common in boys, and it can occur together with some other conditions such as Down syndrome. It sometimes runs in families.
Why does it happen?
During early pregnancy, nerve cells normally grow along the whole bowel from top to bottom. In Hirschsprung disease this process stops early, leaving the last section without nerve cells. Genes play a role in many cases. It is not caused by anything the mother did during pregnancy.
Symptoms
- Not passing the first stool (meconium) within 48 hours of birth
- Swollen, tight belly
- Vomiting, which may be green
- Poor feeding and poor weight gain
- Severe constipation from birth that does not respond to usual treatment
- Ribbon-like stools or explosive loose stools after a rectal examination
Red flags — seek urgent medical care
A newborn who has not passed stool in the first 48 hours, with a swollen belly or vomiting
Needs urgent assessment in hospital. Do not wait at home.
Green (bile) vomiting
A sign of bowel blockage. Go to the emergency department immediately.
Fever, bloody or foul-smelling watery diarrhoea, a very swollen belly, or a baby who is lethargic or floppy
May be enterocolitis, a serious bowel infection and inflammation that can be life-threatening. This is an emergency; a baby needing urgent care should be seen immediately. It can occur before and after surgery.
Poor growth, or constipation since the first weeks of life with a swollen belly
Should be reviewed by a paediatric specialist to rule out Hirschsprung disease.
How is it diagnosed?
Diagnosis involves a specialist paediatric team. An abdominal X-ray and a contrast enema (a test where a safe dye is given through the bottom and X-rays are taken) can suggest the condition. The definitive test is a rectal biopsy: a very small sample of the bowel lining is taken, usually without needing a major operation, and examined for the absence of nerve cells. Other tests may be used in some cases.
Outlook — what to expect
Surgery works well for most children and allows normal growth. After surgery, many children have good bowel control over time, but some have ongoing constipation, soiling, or episodes of enterocolitis, so long-term follow-up with the surgical and gastroenterology team is important. Outcomes depend on how long the affected section is and on other health conditions.
Treatment
Habits & Lifestyle
Care after diagnosis is led by the surgical team; families play a key role.
- Learn the warning signs of enterocolitis and have a plan to reach hospital quickly, day or night.
- Keep a record of stools, feeding, and any soiling to share at clinic visits.
- Take your child's temperature if they seem unwell and call the team promptly if there is a fever.
- Follow the nurse's instructions exactly if rectal washouts or dilatations are advised after surgery.
- Support toilet training with patience, as it may take longer.
Diet
Most children eat a normal diet, and the aim is healthy growth.
- Breastfeeding or normal formula can usually continue unless the team advises otherwise.
- After surgery, a balanced diet with fibre and fluids helps keep stools soft.
- A dietitian can help if growth is slow or feeding is difficult.
- Do not give laxatives, enemas or home remedies unless the surgical team has advised them.
Medications
Surgery treats the underlying problem; medicines only support care.
- Antibiotics and fluids are given in hospital for enterocolitis.
- After surgery, some children need medicines for constipation or to help with bowel control. The team will choose them.
- The doctor decides every medicine and dose. Do not give your own treatment.
Procedures & Surgery
Surgery is the standard treatment.
- The operation (a "pull-through") removes the section of bowel without nerve cells and joins healthy bowel to the anus.
- Sometimes a temporary stoma (an opening of the bowel on the belly) is made first, particularly in unwell babies, and closed later.
- The surgical team will explain the timing and type of surgery, and what recovery involves.
Living with the condition
- Many families feel overwhelmed at first. A specialist nurse or support group can help.
- Keep a short summary of your child's history to show any doctor in an emergency.
Questions to ask your doctor
Save this list or print it before your appointment — doctors appreciate prepared patients.
- How long is the affected part of my child's bowel?
- What type of surgery is planned and when?
- What are the signs of enterocolitis, and where should we go if they appear?
- What can we expect for bowel control and toilet training?
- How often will follow-up be needed?
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Status: Approved for publication by SGA; individual clinician review is ongoing · Published 24/04/2026
For general education only; it does not replace your doctor’s advice. Individual clinician review of this guide is ongoing. SGA clinician? Review this guide