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Sirenomelia
Janice L. B. Byrne, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Sirenomelia sequence
              • Symelia apus (absent feet)/dipus (rudimentary feet)
              • Mermaid syndrome, originally described in 1542
              • Note: Online Mendelian Inheritance in Man (OMIM) includes sirenomelia with caudal dysgenesis/regression, sacral agenesis, and sacral defect with anterior meningocele under single entry #600145
            • Definitions

              • Rare, usually lethal malformation characterized by varying degrees of lower extremity fusion and other skeletal, gastrointestinal, and genitourinary abnormalities

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • MR Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Gross Pathologic & Surgical Features

                          CLINICAL ISSUES

                          • Presentation

                            • Demographics

                              • Natural History & Prognosis

                                • Treatment

                                  DIAGNOSTIC CHECKLIST

                                  • Consider

                                    • Image Interpretation Pearls

                                      Selected References

                                      1. Singh C et al: Diagnosis of sirenomelia in the first trimester. J Clin Ultrasound. 42(6):355-9, 2014
                                      2. López-Valdez JA et al: A fetus with hemifacial microsomia and sirenomelia. The same mesodermal defect spectrum? Fetal Pediatr Pathol. 32(2):152-7, 2013
                                      3. Clemente CM et al: Sirenomelia with oligodactylia: early ultrasonographic and hysteroscopic embryoscopic diagnosis during the first trimester of gestation. Fetal Diagn Ther. 28(1):43-5, 2010
                                      4. Thottungal AD et al: Caudal dysgenesis and sirenomelia-single centre experience suggests common pathogenic basis. Am J Med Genet A. 152A(10):2578-87, 2010
                                      5. Basbug M et al: Prenatal sonographic findings in a fetus with splenogonadal fusion limb defect syndrome. J Clin Ultrasound. 37(5):298-301, 2009
                                      6. Akbayir O et al: First trimester diagnosis of sirenomelia: a case report and review of the literature. Arch Gynecol Obstet. 278(6):589-92, 2008
                                      7. Charlier P et al: [Sirenomelia as a part of VACTERL association: a study of three cases.] Ann Pathol. 28(3):176-81, 2008
                                      8. Rougemont AL et al: Caudal dysgenesis, sirenomelia, and situs inversus totalis: a primitive defect in blastogenesis. Am J Med Genet A. 146A(11):1470-6, 2008
                                      9. Nisenblat V et al: Dizygotic twin pregnancy discordant for sirenomelia. J Ultrasound Med. 26(1):97-103, 2007
                                      10. Zanforlin Filho SM et al: Sirenomelia sequence: early prenatal diagnosis of one rare case associated with acardiac malformation. Arch Gynecol Obstet. 275(4):315-6, 2007
                                      11. Van Keirsbilck J et al: First trimester diagnosis of sirenomelia. Prenat Diagn. 26(8):684-8, 2006
                                      12. Sepulveda W et al: Sirenomelia (symelia dipus). Pediatr Radiol. 35(9):931-3, 2005
                                      13. Drossou-Agakidou V et al: Rare manifestations of sirenomelia syndrome: a report of five cases. Am J Perinatol. 21(7):395-401, 2004
                                      14. Patel S et al: The role of color and power Doppler ultrasound in the prenatal diagnosis of sirenomelia. Ultrasound Obstet Gynecol. 24(6):684-91, 2004
                                      15. Kjaer KW et al: Sirenomelia sequence according to the distance between the first sacral vertebra and the ilia. Am J Med Genet A. 120(4):503-8, 2003
                                      16. Schiesser M et al: Sirenomelia, the mermaid syndrome--detection in the first trimester. Prenat Diagn. 23(6):493-5, 2003
                                      17. Stanton MP et al: A surviving infant with sirenomelia (Mermaid syndrome) associated with absent bladder. J Pediatr Surg. 38(8):1266-8, 2003
                                      18. Gamzu R et al: Type II single umbilical artery (persistent vitelline artery) in an otherwise normal fetus. Prenat Diagn. 22(11):1040-3, 2002
                                      19. Opitz JM et al: Defects of blastogenesis. Am J Med Genet. 115(4):269-86, 2002
                                      20. Sepulveda W et al: Sirenomelia sequence versus renal agenesis: prenatal differentiation with power Doppler ultrasound. Ultrasound Obstet Gynecol. 11(6):445-9, 1998
                                      21. Twickler D et al: Caudal regression versus sirenomelia: sonographic clues. J Ultrasound Med. 12(6):323-30, 1993
                                      22. Stevenson RE et al: Vascular steal: the pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues. Pediatrics. 78(3):451-7, 1986
                                      Related Anatomy
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                                      Related Differential Diagnoses
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                                      References
                                      Tables

                                      Tables

                                      KEY FACTS

                                      • Terminology

                                        • Imaging

                                          • Top Differential Diagnoses

                                            • Pathology

                                              • Clinical Issues

                                                TERMINOLOGY

                                                • Synonyms

                                                  • Sirenomelia sequence
                                                  • Symelia apus (absent feet)/dipus (rudimentary feet)
                                                  • Mermaid syndrome, originally described in 1542
                                                  • Note: Online Mendelian Inheritance in Man (OMIM) includes sirenomelia with caudal dysgenesis/regression, sacral agenesis, and sacral defect with anterior meningocele under single entry #600145
                                                • Definitions

                                                  • Rare, usually lethal malformation characterized by varying degrees of lower extremity fusion and other skeletal, gastrointestinal, and genitourinary abnormalities

                                                IMAGING

                                                • General Features

                                                  • Ultrasonographic Findings

                                                    • MR Findings

                                                      • Imaging Recommendations

                                                        DIFFERENTIAL DIAGNOSIS

                                                          PATHOLOGY

                                                          • General Features

                                                            • Gross Pathologic & Surgical Features

                                                              CLINICAL ISSUES

                                                              • Presentation

                                                                • Demographics

                                                                  • Natural History & Prognosis

                                                                    • Treatment

                                                                      DIAGNOSTIC CHECKLIST

                                                                      • Consider

                                                                        • Image Interpretation Pearls

                                                                          Selected References

                                                                          1. Singh C et al: Diagnosis of sirenomelia in the first trimester. J Clin Ultrasound. 42(6):355-9, 2014
                                                                          2. López-Valdez JA et al: A fetus with hemifacial microsomia and sirenomelia. The same mesodermal defect spectrum? Fetal Pediatr Pathol. 32(2):152-7, 2013
                                                                          3. Clemente CM et al: Sirenomelia with oligodactylia: early ultrasonographic and hysteroscopic embryoscopic diagnosis during the first trimester of gestation. Fetal Diagn Ther. 28(1):43-5, 2010
                                                                          4. Thottungal AD et al: Caudal dysgenesis and sirenomelia-single centre experience suggests common pathogenic basis. Am J Med Genet A. 152A(10):2578-87, 2010
                                                                          5. Basbug M et al: Prenatal sonographic findings in a fetus with splenogonadal fusion limb defect syndrome. J Clin Ultrasound. 37(5):298-301, 2009
                                                                          6. Akbayir O et al: First trimester diagnosis of sirenomelia: a case report and review of the literature. Arch Gynecol Obstet. 278(6):589-92, 2008
                                                                          7. Charlier P et al: [Sirenomelia as a part of VACTERL association: a study of three cases.] Ann Pathol. 28(3):176-81, 2008
                                                                          8. Rougemont AL et al: Caudal dysgenesis, sirenomelia, and situs inversus totalis: a primitive defect in blastogenesis. Am J Med Genet A. 146A(11):1470-6, 2008
                                                                          9. Nisenblat V et al: Dizygotic twin pregnancy discordant for sirenomelia. J Ultrasound Med. 26(1):97-103, 2007
                                                                          10. Zanforlin Filho SM et al: Sirenomelia sequence: early prenatal diagnosis of one rare case associated with acardiac malformation. Arch Gynecol Obstet. 275(4):315-6, 2007
                                                                          11. Van Keirsbilck J et al: First trimester diagnosis of sirenomelia. Prenat Diagn. 26(8):684-8, 2006
                                                                          12. Sepulveda W et al: Sirenomelia (symelia dipus). Pediatr Radiol. 35(9):931-3, 2005
                                                                          13. Drossou-Agakidou V et al: Rare manifestations of sirenomelia syndrome: a report of five cases. Am J Perinatol. 21(7):395-401, 2004
                                                                          14. Patel S et al: The role of color and power Doppler ultrasound in the prenatal diagnosis of sirenomelia. Ultrasound Obstet Gynecol. 24(6):684-91, 2004
                                                                          15. Kjaer KW et al: Sirenomelia sequence according to the distance between the first sacral vertebra and the ilia. Am J Med Genet A. 120(4):503-8, 2003
                                                                          16. Schiesser M et al: Sirenomelia, the mermaid syndrome--detection in the first trimester. Prenat Diagn. 23(6):493-5, 2003
                                                                          17. Stanton MP et al: A surviving infant with sirenomelia (Mermaid syndrome) associated with absent bladder. J Pediatr Surg. 38(8):1266-8, 2003
                                                                          18. Gamzu R et al: Type II single umbilical artery (persistent vitelline artery) in an otherwise normal fetus. Prenat Diagn. 22(11):1040-3, 2002
                                                                          19. Opitz JM et al: Defects of blastogenesis. Am J Med Genet. 115(4):269-86, 2002
                                                                          20. Sepulveda W et al: Sirenomelia sequence versus renal agenesis: prenatal differentiation with power Doppler ultrasound. Ultrasound Obstet Gynecol. 11(6):445-9, 1998
                                                                          21. Twickler D et al: Caudal regression versus sirenomelia: sonographic clues. J Ultrasound Med. 12(6):323-30, 1993
                                                                          22. Stevenson RE et al: Vascular steal: the pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues. Pediatrics. 78(3):451-7, 1986