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VACTERL Association
Janice L. B. Byrne, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          TERMINOLOGY

          • Synonyms

            • VATER/VACTERL association
          • Definitions

            • Nonrandom association of 6 core abnormalities
              • Vertebral defects
              • Anal atresia
              • Cardiac anomalies
              • Tracheoesophageal (TE) fistula, esophageal atresia
              • Renal anomalies
              • Limb defects (primarily radial ray)
            • VATER is subset, including vertebral defects, anal atresia, TE fistula/esophageal atresia, renal/radial defects
            • Diagnosis of exclusion: At least 3 features should be present to consider diagnosis

          IMAGING

          • General Features

            • Ultrasonographic Findings

              • Imaging Recommendations

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    • Staging, Grading, & Classification

                      CLINICAL ISSUES

                      • Presentation

                        • Demographics

                          • Natural History & Prognosis

                            • Treatment

                              DIAGNOSTIC CHECKLIST

                              • Image Interpretation Pearls

                                Selected References

                                1. van de Putte R et al: Maternal risk factors for the VACTERL association: a EUROCAT case-control study. Birth Defects Res. 112(9):688-98, 2020
                                2. van de Putte R et al: Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study. Pediatr Res. 87(3):541-9, 2020
                                3. Guptha S et al: Likelihood of meeting defined VATER/VACTERL phenotype in infants with esophageal atresia with or without tracheoesophageal fistula. Am J Med Genet A. 179(11):2202-6, 2019
                                4. Holmquist A et al: Closer location of the tracheoesophageal fistula to the carina in newborns with esophageal atresia and VACTERL association. J Pediatr Surg. 54(7):1312-5, 2019
                                5. Husain M et al: Phenotypic diversity of patients diagnosed with VACTERL association. Am J Med Genet A. 176(9):1830-7, 2018
                                6. Solomon BD: The etiology of VACTERL association: current knowledge and hypotheses. Am J Med Genet C Semin Med Genet. 178(4):440-6, 2018
                                7. Reutter H et al: Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "renal" phenotype. Pediatr Nephrol. 31(11):2025-33, 2016
                                8. Basude S et al: Fetal hemivertebra: associations and perinatal outcome. Ultrasound Obstet Gynecol. 45(4):434-8, 2015
                                9. Brosens E et al: VACTERL association etiology: the impact of de novo and rare copy number variations. Mol Syndromol. 4(1-2):20-6, 2013
                                10. Cunningham BK et al: Analysis of cardiac anomalies in VACTERL association. Birth Defects Res A Clin Mol Teratol. 97(12):792-7, 2013
                                11. Solomon BD et al: Clinical geneticists' views of VACTERL/VATER association. Am J Med Genet A. 158A(12):3087-100, 2012
                                12. Raam MS et al: Long-term outcomes of adults with features of VACTERL association. Eur J Med Genet. 54(1):34-41, 2011
                                13. Solomon BD et al: Analysis of component findings in 79 patients diagnosed with VACTERL association. Am J Med Genet A. 152A(9):2236-44, 2010
                                Related Anatomy
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                                Related Differential Diagnoses
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                                References
                                Tables

                                Tables

                                KEY FACTS

                                • Terminology

                                  • Imaging

                                    • Top Differential Diagnoses

                                      • Pathology

                                        TERMINOLOGY

                                        • Synonyms

                                          • VATER/VACTERL association
                                        • Definitions

                                          • Nonrandom association of 6 core abnormalities
                                            • Vertebral defects
                                            • Anal atresia
                                            • Cardiac anomalies
                                            • Tracheoesophageal (TE) fistula, esophageal atresia
                                            • Renal anomalies
                                            • Limb defects (primarily radial ray)
                                          • VATER is subset, including vertebral defects, anal atresia, TE fistula/esophageal atresia, renal/radial defects
                                          • Diagnosis of exclusion: At least 3 features should be present to consider diagnosis

                                        IMAGING

                                        • General Features

                                          • Ultrasonographic Findings

                                            • Imaging Recommendations

                                              DIFFERENTIAL DIAGNOSIS

                                                PATHOLOGY

                                                • General Features

                                                  • Staging, Grading, & Classification

                                                    CLINICAL ISSUES

                                                    • Presentation

                                                      • Demographics

                                                        • Natural History & Prognosis

                                                          • Treatment

                                                            DIAGNOSTIC CHECKLIST

                                                            • Image Interpretation Pearls

                                                              Selected References

                                                              1. van de Putte R et al: Maternal risk factors for the VACTERL association: a EUROCAT case-control study. Birth Defects Res. 112(9):688-98, 2020
                                                              2. van de Putte R et al: Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study. Pediatr Res. 87(3):541-9, 2020
                                                              3. Guptha S et al: Likelihood of meeting defined VATER/VACTERL phenotype in infants with esophageal atresia with or without tracheoesophageal fistula. Am J Med Genet A. 179(11):2202-6, 2019
                                                              4. Holmquist A et al: Closer location of the tracheoesophageal fistula to the carina in newborns with esophageal atresia and VACTERL association. J Pediatr Surg. 54(7):1312-5, 2019
                                                              5. Husain M et al: Phenotypic diversity of patients diagnosed with VACTERL association. Am J Med Genet A. 176(9):1830-7, 2018
                                                              6. Solomon BD: The etiology of VACTERL association: current knowledge and hypotheses. Am J Med Genet C Semin Med Genet. 178(4):440-6, 2018
                                                              7. Reutter H et al: Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "renal" phenotype. Pediatr Nephrol. 31(11):2025-33, 2016
                                                              8. Basude S et al: Fetal hemivertebra: associations and perinatal outcome. Ultrasound Obstet Gynecol. 45(4):434-8, 2015
                                                              9. Brosens E et al: VACTERL association etiology: the impact of de novo and rare copy number variations. Mol Syndromol. 4(1-2):20-6, 2013
                                                              10. Cunningham BK et al: Analysis of cardiac anomalies in VACTERL association. Birth Defects Res A Clin Mol Teratol. 97(12):792-7, 2013
                                                              11. Solomon BD et al: Clinical geneticists' views of VACTERL/VATER association. Am J Med Genet A. 158A(12):3087-100, 2012
                                                              12. Raam MS et al: Long-term outcomes of adults with features of VACTERL association. Eur J Med Genet. 54(1):34-41, 2011
                                                              13. Solomon BD et al: Analysis of component findings in 79 patients diagnosed with VACTERL association. Am J Med Genet A. 152A(9):2236-44, 2010