The embryology of anorectal malformations (ARMs) remains largely speculative. While some authors suggest that ARMs arise from abnormal development of the cloaca, the embryonic cloaca never undergoes a stage that resembles any form of ARMs observed in neonates. In fact, certain claims made by clinicians contradict established scientific data.
The aim of this study, based on our own X-ray functional studies of the anorectal zone in both healthy individuals and those with ARMs, as well as an analysis of existing literature, is to propose a hypothesis of embryonic development for ARMs that aligns with reliable scientific data.
Results: The presence of a functioning anal canal in most patients, both with low and high types of ARMs, can be explained by the internal anal sphincter (IAS) migrating in a craniocaudal direction, creating an anal canal up to the subcutaneous layer opposite the anal fossa. When the IAS does not encounter the ectodermal rudiment, as evidenced by the absence of the anus, it deviates forward and upward, forming a narrow, rigid fistula. This process leads to the ectopic positioning of the anus on the perineum, vestibule, urethra, or vagina. What surgeons typically remove during the pull-through procedure, under the guise of excising a fistula, is actually a functioning anal canal. A short, rigid fistula forms in the wall of the organ through which the IAS penetrates. A thin, long, rigid fistula occurs when the IAS is displaced towards the root of the scrotum.
Unlike a true cloaca, a persistent cloaca develops due to the penetration of the IAS through the vaginal wall before a cavity has formed within the vagina. As a result, the IAS creates a narrow long fistula that, in some cases, obstructs the emptying of the upper part of the vagina, leading to hydrocolpos. These patients typically have a normally functioning bladder and urethra, and in some cases, a functioning anal canal has been documented. Poor outcomes are the result of unnecessary and mutilating surgeries.
It has also been demonstrated that what is often referred to as rectal atresia or stenosis is in the anal canal, approximately 1 cm from the anal verge. This anomaly likely arises from a failure in the breakdown of the membrane between the endodermal and ectodermal anal canal primordia in embryos with a length of 13.5-135 cm. The membrane can be excised via an anal approach, thereby preserving the anal canal. Embryology and anatomy of the so-called H-type ARM are presented. A classification of ARM has been proposed.
Conclusion: This hypothesis is presented for scientific discussion.