Gastrointestinal Tract: Congenital Abnormalities


The gastrointestinal tract may be subject to a variety of congenital abnormalities (i.e. those present at birth) that arise during embryological development. Specific patterns of malformations of the gastrointestinal tract include abnormal lumenisation (stenoses and atresias), duplications, abnormal rotation and fixation, abdominal defects and a variety of others associated with persistence of embryonic structures (e.g. Meckel's diverticulum), or abnormal formation of specific regions of the gastrointestinal tract (e.g. microgastria) or its cellular components (e.g. nerves in Hirschsprung's disease). These disorders primarily result in symptoms of intestinal obstruction, effects on surrounding structures or of associated anomalies. Early recognition is vital and management consists of timely resuscitation and stabilisation of the patients before institution of definitive surgical therapies.

Key Concepts:

  • The gastrointestinal tract is composed of anatomically and functionally distinct regions.

  • The structure of gastrointestinal tract is formed by a complex series of processes that occur to the initial simple gut tube including elongation, herniation out of the abdominal cavity, rotation and fixation.

  • A variety of genes working in isolation or in concert orchestrate the various facets of gut development.

  • A failure in any of the various embryological processes that form the gut can lead to congenital abnormalities, which range from extremely rare to relatively common.

  • Many of these abnormalities are associated with other congenital anomalies.

  • Clinically, most present soon after birth with symptoms of intestinal obstruction or of associated anomalies.

  • Early clinical recognition of these disorders is essential to minimise complications and allow the early institution of appropriate therapies.

  • Although surgery is the commonest intervention early treatment must include adequate resuscitation and stabilisation of the child prior to definitive surgery.

Keywords: embryology of gastrointestinal tract; clinical features of congenital abnormalities; management of congenital abnormalities

Figure 1.

Diagrams of rotation and fixation of the gut, viewed obliquelyfrom the left side. The foregut is shown in pink, the midgut in blue and the hindgutin red. Reproduced with permission from Walker‐Smith and Wright (1985).

Figure 2.

Anatomical variations of oesophageal atresia and tracheo‐oesophageal fistula, indicating relative frequency. Reproduced with permission from Wright and Walker‐Smith (1996).

Figure 3.

Atresias range in severity from a segmental narrowing or stenosis of the intestine to much more severe defects where there is an absence of a segment of the intestine and its blood supply.



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Further Reading

Ashcraft KW, Holcomb G and Murphy J (2009) Ashcraft's Pediatric Surgery, 5th edn. Philadelphia: WB Saunders.

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Spitz LA and Coran AG (2007) Operative Pediatric Surgery, 6th edn. London: Hodder.

Walker‐Smith JA and Murch SH (1999) Diseases of the Small Intestine, 4th edn. Oxford: ISIS Press.

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Fotis, Lampros, Burns, Alan J, and Thapar, Nikhil(Aug 2012) Gastrointestinal Tract: Congenital Abnormalities. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0002138.pub2]