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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 variable single lower extremity 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. Lecoquierre F et al: Exome sequencing identifies the first genetic determinants of sirenomelia in humans. Hum Mutat. 41(5):926-33, 2020
                                      2. Morales-Roselló J et al: Sirenomelia, case report and review of the literature. J Matern Fetal Neonatal Med. 1-4, 2020
                                      3. Sepulveda W et al: First-trimester sonographic diagnosis of sirenomelia: a multicenter series of 12 cases and review of the literature. Prenat Diagn. 40(5):626-34, 2020
                                      4. Boer LL et al: Sirenomelia: a multi-systemic polytopic field defect with ongoing controversies. Birth Defects Res. 109(10):791-804, 2017
                                      5. Isik Kaygusuz E et al: Sirenomelia: a review of embryogenic theories and discussion of the differences from caudal regression syndrome. J Matern Fetal Neonatal Med. 29(6):949-53, 2016
                                      6. Singh C et al: Diagnosis of sirenomelia in the first trimester. J Clin Ultrasound. 42(6):355-9, 2014
                                      7. 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
                                      8. 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
                                      9. Basbug M et al: Prenatal sonographic findings in a fetus with splenogonadal fusion limb defect syndrome. J Clin Ultrasound. 37(5):298-301, 2009
                                      10. 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
                                      11. 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
                                      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 variable single lower extremity 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. Lecoquierre F et al: Exome sequencing identifies the first genetic determinants of sirenomelia in humans. Hum Mutat. 41(5):926-33, 2020
                                                                          2. Morales-Roselló J et al: Sirenomelia, case report and review of the literature. J Matern Fetal Neonatal Med. 1-4, 2020
                                                                          3. Sepulveda W et al: First-trimester sonographic diagnosis of sirenomelia: a multicenter series of 12 cases and review of the literature. Prenat Diagn. 40(5):626-34, 2020
                                                                          4. Boer LL et al: Sirenomelia: a multi-systemic polytopic field defect with ongoing controversies. Birth Defects Res. 109(10):791-804, 2017
                                                                          5. Isik Kaygusuz E et al: Sirenomelia: a review of embryogenic theories and discussion of the differences from caudal regression syndrome. J Matern Fetal Neonatal Med. 29(6):949-53, 2016
                                                                          6. Singh C et al: Diagnosis of sirenomelia in the first trimester. J Clin Ultrasound. 42(6):355-9, 2014
                                                                          7. 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
                                                                          8. 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
                                                                          9. Basbug M et al: Prenatal sonographic findings in a fetus with splenogonadal fusion limb defect syndrome. J Clin Ultrasound. 37(5):298-301, 2009
                                                                          10. 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
                                                                          11. 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