Normal and abnormal embryonic development of the anorectum in human embryos

In the literature, some controversy still exists about the normal and abnormal development of the human anorectum. Therefore, a three-dimensional and histological study was performed on human embryos. In early anorectal development (< or = 49 days postfertilization), the cloaca plays a crucial role, separated from the amniotic cavity by its cloacal membrane. In the cloaca, the yolk sac/primitive hindgut and allantois/primitive urogenital sinus enter. During the embryonic caudal folding process, incorporation of these structures occurs, including their surrounding extraembryonic mesoderm, which fuses to form the urorectal septum. Consequently, this septum does not grow in the direction of the cloacal membrane, and fusion of these structures is likewise never observed. The cloaca remains as such until the cloacal membrane ruptures by apoptotic cell death. The dorsal part of the cloaca then becomes part of the amniotic cavity, and is by no means involved in the development of the anorectum. The tip of the urorectal septum will become the perineal area. Soon after rupture of the cloacal membrane, during late anorectal development (> or = 49 days postfertilization), a secondary occlusion of the anorectal canal occurs, first due to adhesion, followed by formation of an epithelial "plug" at the level of the anal orifice. Recanalization, by apoptotic cell death, of this secondary occluded anal orifice occurs later during development. Based on these embryological observations, congenital anorectal malformations with an abnormal communication to the exterior are best explained as early embryonic defects. The abnormal communications, usually called fistulae, should be regarded as ectopic anal orifices. Anorectal malformations with the anus in normal position are best explained as late embryonic defects.