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# Hirschsprung disease

Hirschsprung disease is a birth defect in which nerve cells are missing from the end of the bowel, so stool cannot pass. It is treated with surgery.

Updated 2026-11-01

## Structures involved

Tap one to see what it is and open it in 3D.

- [Rectum](https://durgical.com/en/anatomy/rectum/)
- [Sigmoid colon](https://durgical.com/en/anatomy/sigmoid-colon/)
- [Descending colon](https://durgical.com/en/anatomy/descending-colon/)
- [External anal sphincter](https://durgical.com/en/anatomy/external-anal-sphincter/)

## In embryology

- [Germ-layer derivatives: ectoderm, mesoderm, endoderm](https://durgical.com/en/embryology/germ-layer-derivatives-ectoderm-mesoderm-endoderm/)
- [Neural crest cells and their derivatives](https://durgical.com/en/embryology/neural-crest-cells-and-their-derivatives/)
- [Hirschsprung disease (congenital aganglionic megacolon)](https://durgical.com/en/embryology/hirschsprung-disease/)

## Why it happens

- [Trisomies 21, 18 and 13, and the 22q11.2 deletion](https://durgical.com/en/general-pathology/trisomies-21-18-and-13-and-the-22q11-2-deletion/)
- [The enteric nervous system, slow waves and GI control](https://durgical.com/en/physiology/the-enteric-nervous-system-slow-waves-and-gi-control/)
- [Small bowel and colon motility](https://durgical.com/en/physiology/small-bowel-and-colon-motility/)
- [The GI tract wall: mucosa, submucosa, muscularis, serosa; enteric plexuses](https://durgical.com/en/histology/the-gi-tract-wall-mucosa-submucosa-muscularis-serosa-enteric-plexuses/)

## What it is

A congenital disorder in which ganglion cells are absent from the wall of the distal bowel, so the affected segment cannot relax and causes a functional obstruction. It always starts at the internal anal sphincter and extends upwards for a variable length; it is also called congenital aganglionic megacolon.

## Who gets it

Affects about 1 in 5,000 newborns, more often boys (about 4:1 in short-segment disease). Around 1 in 10 children with the disease have Down syndrome.

## Causes

- Failure of neural crest cells to migrate down the bowel during weeks 5–12 of gestation
- Mutations in RET (most common), EDNRB, EDN3 and other genes; complex inheritance

## Risk factors

- Male sex
- Down syndrome
- Family history (a sibling or parent with the disease)
- Syndromes such as Waardenburg type IV, Mowat-Wilson and congenital central hypoventilation syndrome; MEN2A (RET)

## Pathophysiology

Without myenteric (Auerbach) and submucosal (Meissner) plexuses, the aganglionic segment stays tonically contracted and lacks peristalsis and the rectoanal inhibitory reflex. Stool builds up above it, and the normal proximal colon dilates (megacolon). Stasis allows bacterial overgrowth and Hirschsprung-associated enterocolitis.

## Classification

- Short-segment (rectosigmoid), about 80%
- Long-segment (beyond the sigmoid)
- Total colonic aganglionosis
- Rare total intestinal aganglionosis
- Ultra-short segment

## Symptoms and signs

- Failure to pass meconium in the first 48 hours of life (classic presentation)
- Abdominal distension and bilious vomiting in the newborn
- Explosive release of gas and stool after rectal examination (squirt sign)
- In older children: chronic severe constipation since birth, distension, poor growth
- Empty rectal ampulla on digital examination, unlike functional constipation

## Red flags

- Fever, foul-smelling explosive diarrhoea, distension and lethargy (Hirschsprung-associated enterocolitis, a life-threatening emergency)
- Signs of perforation or sepsis
- Bilious vomiting in a newborn

## Diagnosis

**Clinical**
Suspected in a term newborn who does not pass meconium within 48 hours, or a child with lifelong constipation, distension and an empty [rectum](https://durgical.com/en/anatomy/rectum/).

**Tests**
Rectal suction biopsy is the gold standard: absent ganglion cells and hypertrophied nerve fibres with increased acetylcholinesterase staining and absent calretinin. Anorectal manometry shows an absent rectoanal inhibitory reflex.

**Imaging**
Abdominal X-ray shows dilated bowel loops and an empty rectum. Contrast enema shows a narrow distal segment, a [transition zone](https://durgical.com/en/anatomy/transition-zone-of-prostate/) and dilated proximal colon, with delayed evacuation of contrast.

## Differential diagnosis

- Meconium ileus (cystic fibrosis) and meconium plug syndrome
- Intestinal atresia or anorectal malformation
- Functional constipation in older children
- Hypothyroidism and electrolyte disturbances

## Goal of treatment

Decompress the bowel and prevent enterocolitis, then remove the aganglionic segment and bring normally innervated bowel down to the anus while preserving continence.

## Treatment

**Acute**
Initial stabilisation: fluids, nasogastric decompression and rectal irrigations; broad-spectrum antibiotics for enterocolitis.

**Surgical**
Pull-through surgery (e.g. transanal, Swenson, Soave or Duhamel techniques), often in one stage, sometimes after a temporary stoma in sick infants or long-segment disease.

**Follow-up**
Nursing priorities: abdominal girth and stool monitoring, fluid balance, perioperative stoma or wound care, recognition of enterocolitis and family education; long-term follow-up of bowel function and continence.

## Complications

- Hirschsprung-associated enterocolitis, before or after surgery
- Bowel perforation and sepsis
- Persistent constipation or soiling after surgery
- Anastomotic stricture or leak
- Malnutrition and growth failure

## Prognosis

Most children do well after pull-through surgery, although bowel problems such as constipation, soiling or enterocolitis may persist for years. Outlook is worse with long-segment disease and associated syndromes.

## Test yourself

Think of the answer, then tap the question to see it.

## What is the classic neonatal presentation of Hirschsprung disease?

Failure to pass meconium within 48 hours, with abdominal distension and bilious vomiting.

## What is the gold-standard test for Hirschsprung disease?

Rectal suction biopsy showing absent ganglion cells.

## Which embryological process fails in Hirschsprung disease?

Migration of neural crest cells to form the enteric (myenteric and submucosal) plexuses in the distal bowel.

## Which syndrome is most often associated with Hirschsprung disease?

Down syndrome (trisomy 21).

## What is the most feared complication of Hirschsprung disease?

Hirschsprung-associated enterocolitis, with fever, distension and explosive diarrhoea.

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## Related conditions

- [Large bowel obstruction](https://durgical.com/en/conditions/large-bowel-obstruction/)
- [Infantile hypertrophic pyloric stenosis](https://durgical.com/en/conditions/infantile-hypertrophic-pyloric-stenosis/)
- [Intussusception (children)](https://durgical.com/en/conditions/intussusception/)
- [Sepsis and septic shock](https://durgical.com/en/conditions/sepsis-and-septic-shock/)

Educational information, not medical advice. For any symptom, see a health professional.

Sources: [Hirschsprung disease: MedlinePlus Genetics](https://medlineplus.gov/genetics/condition/hirschsprung-disease/) (MedlinePlus, US National Library of Medicine, 2026).

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Source: https://durgical.com/en/conditions/hirschsprung-disease/
License: CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Cite as: DurgiPedia (durgical.com), https://durgical.com/en/conditions/hirschsprung-disease/