先天性巨结肠

在 5% 的病例中发现此畸形。[8]Graivier L, Sieber WK. Hirschsprung's disease and mongolism. Surgery. 1966;60:458-461.http://www.ncbi.nlm.nih.gov/pubmed/4223811?tool=bestpractice.com[9]Black CT, Sherman JO. The association of low imperforate anus and Down's syndrome. J Pediatr Surg. 1989;24:92-94.http://www.ncbi.nlm.nih.gov/pubmed/2524563?tool=bestpractice.com

这与转染 (RET) 期间重新排列的原癌基因缺失相关，也已知其与先天性巨结肠相关。

男性稍占多数。[1]Peña A, Levitt MA. Pediatric Surgical Problems. In: Corman ML, ed. Colon and Rectal Surgery. 5th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2005:555-603.

出现遗传联系，其中在染色体 10 的长臂中出现缺失而此变异的位置在 10Qll.2 与 Q21.2 2 之间。[11]Martucciello G, Biocchi M, Dodero P, et al. Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10. Pediatr Surg Int. 1992;7:308-310.[12]Luo Y, Ceccherini I, Pasini B, et al. Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease. Hum Mol Genet. 1993;2:1803-1808.http://www.ncbi.nlm.nih.gov/pubmed/7904208?tool=bestpractice.com[13]Fewtrell MS. Tam PK, Thomson AH, et al. Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies? J Med Genet. 1994;31:325-327.http://www.ncbi.nlm.nih.gov/pubmed/7915329?tool=bestpractice.com此突变与 RET 原癌基因的区域重叠，后者与多发性内分泌发育异常（IIA 型）相关。