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Polydactyly
Arthur B. Meyers, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Diagnostic Checklist

          TERMINOLOGY

          • Synonyms

            • Supernumerary digit
            • Hyperdactyly
            • Hyperphalangism
          • Definitions

            • Polydactyly: Extra digits of hands or feet
              • Preaxial: Radial side of hand, tibial side of foot
              • Postaxial: Ulnar side of hand, fibular side of foot
              • Central (mesoaxial): Involves central digits
              • Mirror-image polydactyly: Central thumb/great toe-like digit with complete or partial duplication of 2nd-5th digits
            • Syndactyly: Fusion of digits
              • Simple (soft tissue fusion) vs. complex (osseous fusion)
              • Complete (entire digit) vs. incomplete (spares distal digit)
            • Polysyndactyly: Polydactyly + syndactyly (soft tissue ± osseous fusion of digits)

          IMAGING

          • General Features

            • Radiographic Findings

              • MR Findings

                • Ultrasonographic Findings

                  • Imaging Recommendations

                    PATHOLOGY

                    • General Features

                      • Staging, Grading, & Classification

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Image Interpretation Pearls

                                  • Reporting Tips

                                    Selected References

                                    1. Malik S: Polydactyly: phenotypes, genetics and classification. Clin Genet. 85(3):203-12, 2014
                                    2. Guo B et al: Polydactyly: a review. Bull Hosp Jt Dis (2013). 71(1):17-23, 2013
                                    3. Klopocki E et al: Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. Eur J Hum Genet. 20(6):705-8, 2012
                                    4. Bianchi DW et al: Fetology: Diagnosis and Management of the Fetal Patient. 2nd ed. New York: McGraw-Hill Medical Pub. Division. 714-25, 2010
                                    5. Rypens F et al: Obstetric US: watch the fetal hands. Radiographics. 26(3):811-29; discussion 830-1, 2006
                                    6. Castilla EE et al: Associated anomalies in individuals with polydactyly. Am J Med Genet. 80(5):459-65, 1998
                                    Related Anatomy
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                                    Related Differential Diagnoses
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                                    References
                                    Tables

                                    Tables

                                    KEY FACTS

                                    • Terminology

                                      • Imaging

                                        • Pathology

                                          • Diagnostic Checklist

                                            TERMINOLOGY

                                            • Synonyms

                                              • Supernumerary digit
                                              • Hyperdactyly
                                              • Hyperphalangism
                                            • Definitions

                                              • Polydactyly: Extra digits of hands or feet
                                                • Preaxial: Radial side of hand, tibial side of foot
                                                • Postaxial: Ulnar side of hand, fibular side of foot
                                                • Central (mesoaxial): Involves central digits
                                                • Mirror-image polydactyly: Central thumb/great toe-like digit with complete or partial duplication of 2nd-5th digits
                                              • Syndactyly: Fusion of digits
                                                • Simple (soft tissue fusion) vs. complex (osseous fusion)
                                                • Complete (entire digit) vs. incomplete (spares distal digit)
                                              • Polysyndactyly: Polydactyly + syndactyly (soft tissue ± osseous fusion of digits)

                                            IMAGING

                                            • General Features

                                              • Radiographic Findings

                                                • MR Findings

                                                  • Ultrasonographic Findings

                                                    • Imaging Recommendations

                                                      PATHOLOGY

                                                      • General Features

                                                        • Staging, Grading, & Classification

                                                          CLINICAL ISSUES

                                                          • Presentation

                                                            • Demographics

                                                              • Natural History & Prognosis

                                                                • Treatment

                                                                  DIAGNOSTIC CHECKLIST

                                                                  • Image Interpretation Pearls

                                                                    • Reporting Tips

                                                                      Selected References

                                                                      1. Malik S: Polydactyly: phenotypes, genetics and classification. Clin Genet. 85(3):203-12, 2014
                                                                      2. Guo B et al: Polydactyly: a review. Bull Hosp Jt Dis (2013). 71(1):17-23, 2013
                                                                      3. Klopocki E et al: Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. Eur J Hum Genet. 20(6):705-8, 2012
                                                                      4. Bianchi DW et al: Fetology: Diagnosis and Management of the Fetal Patient. 2nd ed. New York: McGraw-Hill Medical Pub. Division. 714-25, 2010
                                                                      5. Rypens F et al: Obstetric US: watch the fetal hands. Radiographics. 26(3):811-29; discussion 830-1, 2006
                                                                      6. Castilla EE et al: Associated anomalies in individuals with polydactyly. Am J Med Genet. 80(5):459-65, 1998