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Cloacal Malformation/Urogenital Sinus
Paula J. Woodward, MD; Nicole S. Winkler, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Clinical Issues

        • Diagnostic Checklist

          TERMINOLOGY

          • Synonyms

            • Persistent cloaca
            • Urogenital sinus malformation
            • Urorectal septum malformation sequence
            • Cloacal dysgenesis
            • Cloaca variant
            • Urorectal malformation
          • Definitions

            • Complex malformation encompassing spectrum of congenital hindgut and genitourinary anomalies resulting from failure of cloacal division early in embryogenesis
              • Urogenital sinus
                • Common channel draining urethra and vagina (urogenital sinus) at expected location of normal urethra with normally positioned anus
              • Posterior cloaca
                • Urogenital sinus posteriorly deviates, draining into anterior wall of rectum
              • Cloacal variant
                • Urogenital sinus with anteriorly displaced anus
              • Classic cloaca
                • Convergence of urinary, genital, and hindgut structures into single common channel
              • Cloacal dysgenesis
                • Most severe form with complete absence of perineal openings
            • Cloaca is Latin for sewer

          IMAGING

          • General Features

            • Ultrasonographic Findings

              • MR Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Staging, Grading, & Classification

                        • Gross Pathologic & Surgical Features

                          CLINICAL ISSUES

                          • Presentation

                            • Demographics

                              • Natural History & Prognosis

                                • Treatment

                                  DIAGNOSTIC CHECKLIST

                                  • Image Interpretation Pearls

                                    • Reporting Tips

                                      Selected References

                                      1. Acién P et al: The presentation and management of complex female genital malformations. Hum Reprod Update. 22(1):48-69, 2016
                                      2. Versteegh HP et al: Cloacal malformation patients report similar quality of life as female patients with less complex anorectal malformations. J Pediatr Surg. 3468(15)00450-9, 2015
                                      3. Wang C et al: A new approach for persistent cloaca: Laparoscopically assisted anorectoplasty and modified repair of urogenital sinus. J Pediatr Surg. 50(7):1236-40, 2015
                                      4. Arlen AM et al: Disorders of the bladder and cloacal anomaly. Clin Perinatol. 41(3):695-707, 2014
                                      5. Gupta A et al: The great divide: septation and malformation of the cloaca, and its implications for surgeons. Pediatr Surg Int. 30(11):1089-95, 2014
                                      6. Livingston JC et al: Persistent cloaca: a 10-year review of prenatal diagnosis. J Ultrasound Med. 31(3):403-7, 2012
                                      7. Winkler NS et al: Cloacal malformation: embryology, anatomy, and prenatal imaging features. J Ultrasound Med. 31(11):1843-55, 2012
                                      8. Bischoff A et al: Hydrocolpos in cloacal malformations. J Pediatr Surg. 45(6):1241-5, 2010
                                      9. Bischoff A et al: Prenatal diagnosis of cloacal malformations. Pediatr Surg Int. 26(11):1071-5, 2010
                                      10. Levitt MA et al: Cloacal malformations: lessons learned from 490 cases. Semin Pediatr Surg. 19(2):128-38, 2010
                                      11. Peña A et al: Posterior cloaca--further experience and guidelines for the treatment of an unusual anorectal malformation. J Pediatr Surg. 45(6):1234-40, 2010
                                      12. Bargaje A et al: Cloacal dysgenesis sequence. Ann Diagn Pathol. 12(1):62-6, 2008
                                      13. Peña A et al: Surgical management of cloacal malformations: a review of 339 patients. J Pediatr Surg. 39(3):470-9; discussion 470-9, 2004
                                      14. Warne S et al: Prenatal diagnosis of cloacal anomalies. BJU Int. 89(1):78-81, 2002
                                      15. Wheeler PG et al: Partial urorectal septum malformation sequence: a report of 25 cases. Am J Med Genet. 103(2):99-105, 2001
                                      16. Peña A et al: Advances in the management of anorectal malformations. Am J Surg. 180(5):370-6, 2000
                                      17. Paidas CN et al: Septation and differentiation of the embryonic human cloaca. J Pediatr Surg. 34(5):877-84, 1999
                                      18. Qureshi F et al: Prenatal diagnosis of cloacal dysgenesis sequence: differential diagnosis from other forms of fetal obstructive uropathy. Fetal Diagn Ther. 13(2):69-74, 1998
                                      Related Anatomy
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                                      Related Differential Diagnoses
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                                      References
                                      Tables

                                      Tables

                                      KEY FACTS

                                      • Terminology

                                        • Imaging

                                          • Clinical Issues

                                            • Diagnostic Checklist

                                              TERMINOLOGY

                                              • Synonyms

                                                • Persistent cloaca
                                                • Urogenital sinus malformation
                                                • Urorectal septum malformation sequence
                                                • Cloacal dysgenesis
                                                • Cloaca variant
                                                • Urorectal malformation
                                              • Definitions

                                                • Complex malformation encompassing spectrum of congenital hindgut and genitourinary anomalies resulting from failure of cloacal division early in embryogenesis
                                                  • Urogenital sinus
                                                    • Common channel draining urethra and vagina (urogenital sinus) at expected location of normal urethra with normally positioned anus
                                                  • Posterior cloaca
                                                    • Urogenital sinus posteriorly deviates, draining into anterior wall of rectum
                                                  • Cloacal variant
                                                    • Urogenital sinus with anteriorly displaced anus
                                                  • Classic cloaca
                                                    • Convergence of urinary, genital, and hindgut structures into single common channel
                                                  • Cloacal dysgenesis
                                                    • Most severe form with complete absence of perineal openings
                                                • Cloaca is Latin for sewer

                                              IMAGING

                                              • General Features

                                                • Ultrasonographic Findings

                                                  • MR Findings

                                                    • Imaging Recommendations

                                                      DIFFERENTIAL DIAGNOSIS

                                                        PATHOLOGY

                                                        • General Features

                                                          • Staging, Grading, & Classification

                                                            • Gross Pathologic & Surgical Features

                                                              CLINICAL ISSUES

                                                              • Presentation

                                                                • Demographics

                                                                  • Natural History & Prognosis

                                                                    • Treatment

                                                                      DIAGNOSTIC CHECKLIST

                                                                      • Image Interpretation Pearls

                                                                        • Reporting Tips

                                                                          Selected References

                                                                          1. Acién P et al: The presentation and management of complex female genital malformations. Hum Reprod Update. 22(1):48-69, 2016
                                                                          2. Versteegh HP et al: Cloacal malformation patients report similar quality of life as female patients with less complex anorectal malformations. J Pediatr Surg. 3468(15)00450-9, 2015
                                                                          3. Wang C et al: A new approach for persistent cloaca: Laparoscopically assisted anorectoplasty and modified repair of urogenital sinus. J Pediatr Surg. 50(7):1236-40, 2015
                                                                          4. Arlen AM et al: Disorders of the bladder and cloacal anomaly. Clin Perinatol. 41(3):695-707, 2014
                                                                          5. Gupta A et al: The great divide: septation and malformation of the cloaca, and its implications for surgeons. Pediatr Surg Int. 30(11):1089-95, 2014
                                                                          6. Livingston JC et al: Persistent cloaca: a 10-year review of prenatal diagnosis. J Ultrasound Med. 31(3):403-7, 2012
                                                                          7. Winkler NS et al: Cloacal malformation: embryology, anatomy, and prenatal imaging features. J Ultrasound Med. 31(11):1843-55, 2012
                                                                          8. Bischoff A et al: Hydrocolpos in cloacal malformations. J Pediatr Surg. 45(6):1241-5, 2010
                                                                          9. Bischoff A et al: Prenatal diagnosis of cloacal malformations. Pediatr Surg Int. 26(11):1071-5, 2010
                                                                          10. Levitt MA et al: Cloacal malformations: lessons learned from 490 cases. Semin Pediatr Surg. 19(2):128-38, 2010
                                                                          11. Peña A et al: Posterior cloaca--further experience and guidelines for the treatment of an unusual anorectal malformation. J Pediatr Surg. 45(6):1234-40, 2010
                                                                          12. Bargaje A et al: Cloacal dysgenesis sequence. Ann Diagn Pathol. 12(1):62-6, 2008
                                                                          13. Peña A et al: Surgical management of cloacal malformations: a review of 339 patients. J Pediatr Surg. 39(3):470-9; discussion 470-9, 2004
                                                                          14. Warne S et al: Prenatal diagnosis of cloacal anomalies. BJU Int. 89(1):78-81, 2002
                                                                          15. Wheeler PG et al: Partial urorectal septum malformation sequence: a report of 25 cases. Am J Med Genet. 103(2):99-105, 2001
                                                                          16. Peña A et al: Advances in the management of anorectal malformations. Am J Surg. 180(5):370-6, 2000
                                                                          17. Paidas CN et al: Septation and differentiation of the embryonic human cloaca. J Pediatr Surg. 34(5):877-84, 1999
                                                                          18. Qureshi F et al: Prenatal diagnosis of cloacal dysgenesis sequence: differential diagnosis from other forms of fetal obstructive uropathy. Fetal Diagn Ther. 13(2):69-74, 1998