Current concepts in the embryology of anorectal malformations

Abstract

Today, the normal and abnormal development of the hindgut is still a matter of speculation. However, owing to recent studies in appropriate animal models, most embryological events that finally lead to abnormal hindgut development are better known than in the past: (1) The process of maldevelopment starts early in the embryo. (2) The cloacal membrane always is too short in its dorsal part. Thus the dorsal cloaca is missing too. (3) As a result, the hindgut remains attached to the sinus urogenitalis, thus forming the recto-urethral fistula. In the past, an impaired process of septation was believed to be the main cause of abnormal hindgut development. In contrast to this, our results indicate that the development of the septum is more passive than active. Further results of our studies in normal and abnormal development indicate that (1) the embryonic cloaca never passes through a stage that is similar to any form of anorectal malformation in neonates, including the so-called "cloacas" in females, and (2) to explain abnormal development, studies in abnormal embryos are mandatory.