Epidemiology

The disease occurs in approximately 1 in 5000 births, making it a relatively common congenital condition.[16]​​[17]​ In one retrospective comparative cohort study from California, the risk was highest among African-American children (with an incidence of 4.1/10,000 births compared with 2.2/10,000 overall).[17] Short-segment Hirschsprung disease affects boys much more frequently than girls, with a male-to-female ratio ranging from 2.8:1 to 4.0:1.[1]​ Syndromic and long-segment Hirschsprung disease affects boys and girls equally.[1]

Inheritance patterns are complex; the risk for a sister of a male patient is 0.6%, whereas the risk for a brother of a female patient with long-segment disease is 18%.[18] The majority of cases occur sporadically, typically as short-segment Hirschsprung disease with a multifactorial inheritance pattern. However, some cases are familial and are more often long-segment Hirschsprung disease or total colonic aganglionosis (TCA) with an autosomal dominant inheritance pattern.[19][20]​​

Approximately 5% to 32% of all individuals affected with the disease have an associated congenital anomaly.[21] Down syndrome is the most common association, with an overall incidence of 7.3% in children with Hirschsprung disease.[22]​ Other associated syndromes include Shah-Waardenburg syndrome and Mowat-Wilson syndrome.[1][17][23]​​[24]​​ Anorectal malformations are rarely associated with the disease; approximately 2% of children with anorectal malformation also had Hirschsprung disease in one systematic review.[25]

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