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Congenital anomalies of the gut

  • Lesion

Some babies are born with a gut that is closed off, narrowed, joined to the airway, outside the belly, or holding tissue from another organ.

Updated

What it is

Developmental errors can affect any segment of the gut. Atresia leaves a segment without a lumen, stenosis narrows it, a fistula joins it to another hollow organ, and a duplication makes an extra cystic or tubular copy. Defects of the diaphragm and abdominal wall let viscera escape their cavity, and ectopic rests place gastric or pancreatic tissue where it does not belong. Because organs form at the same time, one gut anomaly is a signal to look for others.

Structure

  • Atresia: a short blind-ended segment, often linked to the other end by a thin fibrous cord with no lumen.
  • Stenosis: a thick fibrous wall with a narrow but present lumen; congenital, or acquired after reflux, caustic injury, radiation or scleroderma.
  • Duplication: a cyst or tube with its own mucosa and muscle coat, sharing the wall of the normal gut.
  • Omphalocele sac: amnion and peritoneum with Wharton jelly between them; may contain liver.
  • Ectopic rest: normal-looking gastric or pancreatic tissue in any layer of the wall; deep rests can look like invasion.

Abdominal-wall and diaphragm defects compared

DefectCoveringUsual contentsWhat travels with it
OmphaloceleMembrane sac (amnion and peritoneum)Bowel, sometimes liverOther birth defects and chromosomal anomalies
GastroschisisNone: bowel floats freeSmall bowelMostly isolated; other gut anomalies (atresia) possible; incidence rising
Congenital diaphragmatic herniaHerniated into the chestStomach, bowel, spleen, sometimes liverPulmonary hypoplasia, the main cause of death

Clinical notes

  • Oesophageal atresia shows at birth with regurgitation of feeds; fistulas lead to aspiration pneumonia and fluid and electrolyte loss.
  • Gastric heterotopia in the small bowel or colon can bleed slowly from peptic ulceration of the neighbouring mucosa.
  • Pancreatic rest at the pylorus can scar and obstruct the gastric outlet.

Test yourself

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

What is the most common type of oesophageal atresia with tracheo-oesophageal fistula?

A blind upper oesophageal pouch with a fistula between the trachea and the lower oesophageal segment.

How do omphalocele and gastroschisis differ?

Omphalocele is covered by a membrane sac and often comes with other anomalies; gastroschisis has no sac, usually involves bowel only and is mostly isolated.

Why can an ectopic pancreatic rest be mistaken for cancer?

It can lie deep in the gastric wall, so glands within the muscle look like invasion.

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Educational content on the mechanisms of disease; not a diagnostic or treatment guide and no substitute for a health professional's advice. No doses are given.

Sources: Gastroschisis: MedlinePlus Medical Encyclopedia (MedlinePlus, US National Library of Medicine, 2025); Omphalocele: MedlinePlus Medical Encyclopedia (MedlinePlus, US National Library of Medicine, 2025).

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Representative model, for educational purposes only.