Background Hirschsprung's disease is the commonest congenital gut motility disorder, characterised by the absence of the enteric ganglion cells along the distal gut, which causes intestinal obstruction. Few studies report its prevalence and temporal trends.

Objective To investigate the epidemiology of Hirschsprung's disease including prevalence, temporal trends, associations with other congenital anomalies, pregnancy outcomes and survival.

Methods Cases delivered during 1990-2008 in the North of England notified to the Northern Congenital Abnormality Survey (NorCAS) formed this population-based case-series.

Results In total, 105 cases with a confirmed diagnosis of Hirschsprung's disease were notified to NorCAS. Excluding one diabetic and four multiple pregnancies, the live birth prevalence was 1.59 (95% CI 1.29-1.93) per 10,000 live births. The prevalence of Hirschsprung's disease increased significantly from 1.23 (95% CI 0.78-1.85) in 1990-1994 to 2.20 (95% CI 1.49-3.19) in 2005-2008 (p=0.022). The ratio of male to female cases was 2:1. Ten (10.0%) cases occurred with Down syndrome, one with Smith-Lemli-Opitz syndrome, six (6.0%) with multiple anomalies of other organ systems and 83 (83.0%) were isolated. All cases were live born, but nine (9.0%) died in infancy and four (4.0%) after the first year of life. No Hirschsprung's disease cases were suspected prenatally. Median age at diagnosis was five days postpartum, ranging from birth to five years of age.

Conclusion This study confirmed a male predominance and an association with Down syndrome but also found a temporal increase in Hirschsprung's disease prevalence. No cases were suspected prenatally but median age at detection was five days postpartum.