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Congenital abnormalities of the gastrointestinal tract 

Congenital abnormalities of the gastrointestinal tract

Congenital abnormalities of the gastrointestinal tract

V.M. Wright

, J.A. Walker-Smith

, and I.R. Sanderson


February 27, 2014: This chapter has been re-evaluated and remains up-to-date. No changes have been necessary.


Small intestinal lymphangiectasia—use of capsule endoscopy in diagnosis.

Meconium ileus—use of water-soluble contrast media other than Gastrografin.

Further reading—substantially updated.

Updated on 28 Nov 2012. The previous version of this content can be found here.
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date: 28 April 2017

Congenital abnormalities of the gastrointestinal tract usually manifest shortly after birth, but on occasion symptoms may be delayed for months or even years. Any part of the gut can be affected, with problems including oesophageal atresia and tracheo-oesophageal fistula, anterior abdominal wall defects, congenital pyloric stenosis, atresia and stenosis of the small intestine, duplication of the gastrointestinal tract, small-intestinal malrotation with or without volvulus, small-intestinal lymphangiectasia, Meckel’s diverticulum, meconium ileus, congenital short intestine, colonic atresia, Hirschprung’s disease, and imperforate anus.

The widespread use of ultrasonography to assess the fetus allows many of these abnormalities to be recognized prenatally, and associated anomalies (e.g. cardiac lesions) may indicate a major chromosomal abnormality. This allows parental choice to continue with or terminate the pregnancy.

Presentation of congenital abnormalities of the gastrointestinal tract in adult life is uncommon, but small intestinal lymphangiectasia can present in adults with a picture mimicking coeliac disease, and Meckel’s diverticulum—a vestigial remnant of the vitellointestinal duct on the antimesenteric surface of the distal ileum—can cause rectal bleeding or small-intestinal obstruction in young adults.

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