Congenital abnormalities of the gastrointestinal tract

Congenital abnormalities of the gastrointestinal tract can be divided into macroscopic anatomical abnormalities and monogenically determined, high-penetrance functional defects that present either directly postnatally or during the first few months of life. On occasion, symptoms may be delayed for months or years even in patients with substantial anatomical defects. Anatomical and structural abnormalities can affect any part of the gut. These include 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, congenital short intestine syndrome, colonic atresia, Hirschsprung’s disease, and imperforate anus. Meconium ileus is an intestinal obstruction that develops in utero, often associated with subsequent structural abnormalities. The widespread use of ultrasonography allows many abnormalities to be recognized prenatally. Presentation of structural congenital abnormalities of the gastrointestinal tract in adult life is uncommon, but small intestinal lymphangiectasia, Meckel’s diverticulum, or small intestinal obstruction can present beyond childhood. Functional congenital abnormalities include multiple genetic defects that cause congenital diarrhoea due to malabsorption and maldigestion, defects in enterocyte and enterochromaffin cell development, and autoimmune enteropathies. In addition, there is a group of genetic defects that predispose to development of extreme early infantile onset of inflammatory bowel disease. An interdisciplinary approach is required for the optimal management of children with complex congenital abnormalities.