Hirschsprung disease
Nature Reviews Disease Primers, Published online: 12 October 2023; doi:10.1038/s41572-023-00465-y
Hirschsprung disease (HSCR) is a rare congenital disorder characterized by absence of ganglion cells in the bowel, leading to constipation, abdominal distension and intestinal obstruction. This Primer summarizes the epidemiology, pathophysiology, diagnosis and management of HSCR, and discusses quality of life of patients as well as novel avenues for research.