Congenital anomalies of the tubular gastrointestinal tract

Pathologica. 2022 Feb;114(1):40-54. doi: 10.32074/1591-951X-553.


Congenital anomalies of the tubular gastrointestinal tract are an important cause of morbidity not only in infants, but also in children and adults.

The gastrointestinal (GI) tract, composed of all three primitive germ layers, develops early during embryogenesis. Two major steps in its development are the formation of the gut tube (giving rise to the foregut, the midgut and the hindgut), and the formation of individual organs with specialized cell types.

Formation of an intact and functioning GI tract is under strict control from various molecular pathways. Disruption of any of these crucial mechanisms involved in the cell-fate decision along the dorsoventral, anteroposterior, left-right and radial axes, can lead to numerous congenital anomalies, most of which occur and present in infancy. However, they may run undetected during childhood.

Therapy is surgical, which in some cases must be performed urgently, and prognosis depends on early diagnosis and suitable treatment.

A precise pathologic macroscopic or microscopic diagnosis is important, not only for the immediate treatment and management of affected individuals, but also for future counselling of the affected individual and their family. This is even more true in cases of multiple anomalies or syndromic patterns.

We discuss some of the more frequent or clinically important congenital anomalies of the tubular GI, including atresia's, duplications, intestinal malrotation, Meckel's diverticulum and Hirschsprung's Disease.

Keywords: Hirschsprung Disease; gastrointestinal malformations; gastrointestinal tract; intestinal atresia; intestinal duplication.

Publication types

  • Review

MeSH terms

  • Digestive System Abnormalities* / diagnosis
  • Digestive System Abnormalities* / surgery
  • Humans
  • Intestinal Volvulus*
  • Meckel Diverticulum* / diagnosis
  • Meckel Diverticulum* / surgery
  • Prognosis