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The great divide: septation and malformation of the cloaca, and its implications for surgeons

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Abstract

The anorectal and urogenital systems arise from a common embryonic structure termed cloaca. Subsequent development leads to the division/septation of the cloaca into the urethra, urinary bladder, vagina, anal canal, and rectum. Defective cloacal development and the resulting anorectal and urogenital malformations are some of the most severe congenital anomalies encountered in children. In the most severe form in females, the rectum, vagina, and urethra fail to develop separately and drain via a single common channel known as a cloaca into the perineum. In this review, we summarize our current knowledge of embryonic cloaca development and malformation, and compare them to what has already been described in the literature. We describe the use of mouse models of cloaca malformation to understand which signaling pathways and cellular mechanisms are involved in the process of normal cloaca development. We also discuss the embryological correlation of the epithelial and stromal histology found in step sections of the common channel in 14 human cloaca malformations. Finally, we highlight the significance of these findings, compare them to prior studies, and discuss their implications for the pediatric surgeons. Understanding and identifying the molecular basis for cloaca malformation could provide foundation for tissue engineering efforts that in the future would reflect better surgical reconstruction and improved quality of life for patients.

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Acknowledgments

We would like to thank all our colleagues who are not part of this review but who participated in the work discussed here which include Dr. Marc Levitt, Dr. Margaret Collins, Dr. Shiva Shanmukhappa, Dr. James Wells and Anna Method. Financial support is provided part by Cincinnati Children’s Hospital Medical Center and by National Institutes of Health (NIH) Digestive Health Center P30 DK078392 (G.G).

Conflict of interest

The authors declare no competing financial interests.

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Authors and Affiliations

  1. Division of Pathology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA

    Anita Gupta

  2. Division of Pediatric General and Thoracic Surgery, The Alberto Peña, MD, Colorectal Center, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA

    Andrea Bischoff & Alberto Peña

  3. Division of Developmental Biology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA

    Laura A. Runck & Géraldine Guasch

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  1. Anita Gupta
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  2. Andrea Bischoff
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  3. Alberto Peña
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  4. Laura A. Runck
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  5. Géraldine Guasch
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Correspondence to Géraldine Guasch.

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Gupta, A., Bischoff, A., Peña, A. et al. The great divide: septation and malformation of the cloaca, and its implications for surgeons. Pediatr Surg Int 30, 1089–1095 (2014). https://doi.org/10.1007/s00383-014-3593-8

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