Orphanet Journal of Rare Diseases volume 2, Article number: 33 (2007)
Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex, difficult to manage, are often associated with other anomalies, and have a poor functional prognosis. The surgical approach to repairing these defects changed dramatically in 1980 with the introduction of the posterior sagittal approach, which allowed surgeons to view the anatomy of these defects clearly, to repair them under direct vision, and to learn about the complex anatomic arrangement of the junction of rectum and genitourinary tract. Better imaging techniques, and a better knowledge of the anatomy and physiology of the pelvic structures at birth have refined diagnosis and initial management, and the analysis of large series of patients allows better prediction of associated anomalies and functional prognosis. The main concerns for the surgeon in correcting these anomalies are bowel control, urinary control, and sexual function. With early diagnosis, management of associated anomalies and efficient meticulous surgical repair, patients have the best chance for a good functional outcome. Fecal and urinary incontinence can occur even with an excellent anatomic repair, due mainly to associated problems such as a poorly developed sacrum, deficient nerve supply, and spinal cord anomalies. For these patients, an effective bowel management program, including enema and dietary restrictions has been devised to improve their quality of life.
Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex, difficult to manage, are often associated with other anomalies, and have a poor functional prognosis.
Anorectal malformations are congenital anomalies that occur in approximately 1 in 5000 live births.
Imperforate anus has been a well-known condition since antiquity. For many centuries, physicians, as well as individuals who practiced medicine, created an orifice in the perineum of children with imperforate anus. Those that survived most likely suffered from a type of defect that would now be recognized as "low". Those with a "high" defect did not survive that treatment. Amussat, in 1835 was the first individual who sutured the rectal wall to the skin edges, which could be considered the first anoplasty. During the first 60 years of the 20th century, surgeons performed a perineal operation without a colostomy for the so-called low malformations. High imperforate anus was usually treated with a colostomy performed in the newborn period, followed by an abdomino-perineal pull-through some time later in life, but surgeons lacked objective anatomic guidelines. Unfortunately this left many patients incontinent and was not an appropriate solution to the spectrum of malformations. The surgical approach to repairing these defects changed dramatically in 1980 with the introduction of the posterior sagittal approach, which allowed surgeons to view the anatomy of these defects clearly, to repair them under direct vision, and to learn about the complex anatomic arrangement of the junction of rectum and genitourinary tract [1–6]. It has become the predominant surgical method for anorectal anomalies. In cases when the rectum or the vagina are very high and an abdominal approach as well is needed, laparoscopy can be used in combination with the posterior sagittal approach.
Comparing the results of reported series has always been a problem with anorectal malformations because different surgeons use different terminology when referring to types of imperforate anus. The clearest fact is that there is a sp