Hirschsprung disease and anorectal malformation

Early Hum Dev. 2014 Dec;90(12):927-32. doi: 10.1016/j.earlhumdev.2014.09.016. Epub 2014 Oct 22.


Hirschsprung disease and Anorectal Malformations are congenital disorders presenting in neonates with distal intestinal obstruction. Hirschsprung disease is associated with a functional distal bowel obstruction resulting from the abnormal development of the enteric nervous system and ensuing aganglionosis of the distal gut. Anorectal Malformations comprise a spectrum of anatomical anomalies causing a mechanical bowel obstruction. Both conditions are frequently associated with congenital abnormalities/syndromes, which require careful assessment and evaluation. Surgical intervention is usually required for both conditions with careful preparation and meticulous technique. Long-term follow-up allows early identification and treatment of potentially debilitating symptoms, which include faecal incontinence.

Keywords: Anorectal malformation; Congenital abnormalities; Hirschsprung disease; Neonatal intestinal obstruction.

Publication types

  • Review

MeSH terms

  • Anorectal Malformations
  • Anus, Imperforate / complications
  • Anus, Imperforate / diagnostic imaging
  • Anus, Imperforate / surgery*
  • Guidelines as Topic
  • Hirschsprung Disease / complications
  • Hirschsprung Disease / diagnostic imaging
  • Hirschsprung Disease / surgery*
  • Humans
  • Infant, Newborn
  • Intestinal Obstruction / complications
  • Intestinal Obstruction / diagnostic imaging
  • Intestinal Obstruction / surgery*
  • Radiography