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Anorectal malformations (ARMs) are congenital anomalies affecting the distal rectum and anal canal, occurring in approximately 1 in 5,000 births. These complex developmental defects range from simple anal stenosis to complex cloacal malformations, requiring multidisciplinary management and often multiple staged surgical procedures.
ARMs result from abnormal development of the caudal portion of the embryo during weeks 4-8 of gestation, involving failure of proper separation of the urogenital and intestinal tracts. The severity depends on the timing and extent of developmental arrest, leading to various configurations where the rectum may end blindly or communicate abnormally with the urogenital system.
Management requires systematic evaluation including assessment of sacral anatomy, spinal cord anomalies, and associated VACTERL sequence components before determining surgical approach. The choice between primary repair versus staged procedures depends on the specific anatomy, presence of associated anomalies, and the infant's overall clinical condition at presentation.