Hirschsprung disease: current perspectives

: Hirschsprung disease is a complex congenital condition of the intestine, which is recognized as being of genetic origin and results from a disturbance of the normal development of the enteric nervous system. As a result, aganglionosis of the distal bowel occurs. It is the most common cause of a low intestinal obstruction in the neonate as well as older children. Occurring as an isolated condition in 70% of cases, it may be associated with other associated congenital abnormalities as well as a number of syndromic phenotypes. A number of distinct genetic sites have been identified in these syndromic phenotypes, which identify potential underlying genetic associations of the disease and indicate the probable gene–gene interaction in its pathogenesis. This review