Advances in Hirschsprung Disease Genetics and Treatment Strategies: An Update for the Primary Care Pediatrician

Hirschsprung disease (HSCR) is a multigenic condition with variable presentation. Most commonly, it presents in the neonatal period as a functional intestinal obstruction secondary to failure of caudal migration of the enteric nervous system. Classically, this manifests as dilated proximal bowel and constricted distal bowel with absent ganglia and hypertrophic nerve trunks. When recognized early, medical and surgical therapies can be instituted to minimize associated morbidity and mortality. This article reviews current understanding of the etiology of HSCR, its multigenic associations, the historical evolution of HSCR diagnosis and treatment, and current HSCR therapies.