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先天性巨结肠病是先天性部分消化道肠神经丛的神经节细胞发育不全所致的消化道功能紊乱。简言之,为先天性肠神经节细胞缺乏。该病的严重程度是以肠肛门括约肌、小肠、直肠、乙状结肠涉及神经节细胞缺乏的范围而定。群体发病率为1/5,000在有阳性家膜史的家庭中受累儿童为3.6～7%,如果神经节细胞缺乏涉及到盲肠,有阳性家族史的家庭其发病率升至21%。该病与多种综合征相关联,对非综合征性病例的遗传分析表明为性修饰的多基因遗传。
Hirschsprung disease is congenital part of the gastrointestinal gland plexus ganglion cell dysplasia caused by gastrointestinal disorders. Briefly, there is a lack of congenital enteric ganglion cells. The severity of the disease depends on the range of intestinal anal sphincter, small intestine, rectum, and sigmoid colon involved in lack of ganglion cells. Population incidence was 1 in 5,000 Children in families with a history of a positive family history of 3.6-7% of children had a positive family history of up to 21% if ganglion cells lacked the cecum. The disease is associated with multiple syndromes, and genetic analysis of nonsyndromic cases indicates polygenic inheritance of sexual modification.