Imperforate anus occurs when the rectum does not appropriately connect to the anus or skin. In some children, connections (also known as fistulas) may form between the rectum and another area of skin, the urethra or bladder, or the vagina. The location of the connection to the rectum determines the type of imperforate anus.
Children with imperforate anus are at high-risk of having other congenital anomalies. The grouping of anomalies that often occur together are known as the VACTERL [Vertebrae (spine), Anus, Cardiac (heart), TracheoEsophageal, Renal (kidney) and Limbs (most commonly the arms)] association. Due to the high frequency of these associated anomalies, it is important that children with imperforate anus receive holistic and comprehensive care from a multidisciplinary team of specially-trained experts.