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Polydactyly
Janice L. B. Byrne, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          TERMINOLOGY

          • Definitions

            • 1 or more extra digits or parts of digits
            • Most common varieties are postaxial (ulnar, fibular side) and preaxial (radial, tibial side)
              • Postaxial (a.k.a. posterior) polydactyly
                • Type A: Extra digit well formed, articulates with 5th or extra metacarpal
                • Type B: Pedunculated postminimi, extra digit not well formed, skin tag
                • Synpolydactyly: Postaxial polydactyly with syndactyly often involving digits 3-4 (hands), 4-5 (toes)
              • Preaxial (a.k.a. anterior) polydactyly
                • Type I: Thumb polydactyly
                • Type II: Polydactyly of triphalangeal thumb
                • Type III: Polydactyly of index finger
                • Type IV: Polysyndactyly (preaxial polydactyly with syndactyly)
            • Crossed polydactyly: Coexistence of preaxial and postaxial polydactyly with discrepancy between axes of polydactyly between hands and feet
            • Rare polydactylys: Higher order polydactylys

          IMAGING

          • General Features

            • Ultrasonographic Findings

              • Imaging Recommendations

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    • Gross Pathologic & Surgical Features

                      CLINICAL ISSUES

                      • Demographics

                        • Natural History & Prognosis

                          • Treatment

                            DIAGNOSTIC CHECKLIST

                            • Consider

                              Selected References

                              1. Kelly DM et al: Polydactyly of the foot: a review. J Am Acad Orthop Surg. 29(9):361-9, 2021
                              2. Comer GC et al: Polydactyly of the hand. J Am Acad Orthop Surg. 26(3):75-82, 2018
                              3. Holmes LB et al: Polydactyly, postaxial, type B. Birth Defects Res. 110(2):134-41, 2018
                              4. Lange A et al: A threshold model for polydactyly. Prog Biophys Mol Biol. 137:1-11, 2018
                              5. Umair M et al: Clinical genetics of polydactyly: an updated review. Front Genet. 9:447, 2018
                              6. Costa Gde A et al: Investigation of possible teratogenic effects in the offspring of mice exposed to methylphenidate during pregnancy. Reprod Biomed Online. 32(2):170-7, 2016
                              7. Khan AO et al: C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. Ophthalmic Genet. 1-4, 2016
                              8. Little KJ et al: Congenital anomalies of the hand-principles of management. Orthop Clin North Am. 47(1):153-68, 2016
                              9. Galli A et al: Distinct roles of Hand2 in initiating polarity and posterior Shh expression during the onset of mouse limb bud development. PLoS Genet. 6(4):e1000901, 2010
                              10. Slee J et al: Further evidence for preaxial hallucal polydactyly as a marker of diabetic embryopathy. J Med Genet. 34(3):261-3, 1997
                              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

                                      • Definitions

                                        • 1 or more extra digits or parts of digits
                                        • Most common varieties are postaxial (ulnar, fibular side) and preaxial (radial, tibial side)
                                          • Postaxial (a.k.a. posterior) polydactyly
                                            • Type A: Extra digit well formed, articulates with 5th or extra metacarpal
                                            • Type B: Pedunculated postminimi, extra digit not well formed, skin tag
                                            • Synpolydactyly: Postaxial polydactyly with syndactyly often involving digits 3-4 (hands), 4-5 (toes)
                                          • Preaxial (a.k.a. anterior) polydactyly
                                            • Type I: Thumb polydactyly
                                            • Type II: Polydactyly of triphalangeal thumb
                                            • Type III: Polydactyly of index finger
                                            • Type IV: Polysyndactyly (preaxial polydactyly with syndactyly)
                                        • Crossed polydactyly: Coexistence of preaxial and postaxial polydactyly with discrepancy between axes of polydactyly between hands and feet
                                        • Rare polydactylys: Higher order polydactylys

                                      IMAGING

                                      • General Features

                                        • Ultrasonographic Findings

                                          • Imaging Recommendations

                                            DIFFERENTIAL DIAGNOSIS

                                              PATHOLOGY

                                              • General Features

                                                • Gross Pathologic & Surgical Features

                                                  CLINICAL ISSUES

                                                  • Demographics

                                                    • Natural History & Prognosis

                                                      • Treatment

                                                        DIAGNOSTIC CHECKLIST

                                                        • Consider

                                                          Selected References

                                                          1. Kelly DM et al: Polydactyly of the foot: a review. J Am Acad Orthop Surg. 29(9):361-9, 2021
                                                          2. Comer GC et al: Polydactyly of the hand. J Am Acad Orthop Surg. 26(3):75-82, 2018
                                                          3. Holmes LB et al: Polydactyly, postaxial, type B. Birth Defects Res. 110(2):134-41, 2018
                                                          4. Lange A et al: A threshold model for polydactyly. Prog Biophys Mol Biol. 137:1-11, 2018
                                                          5. Umair M et al: Clinical genetics of polydactyly: an updated review. Front Genet. 9:447, 2018
                                                          6. Costa Gde A et al: Investigation of possible teratogenic effects in the offspring of mice exposed to methylphenidate during pregnancy. Reprod Biomed Online. 32(2):170-7, 2016
                                                          7. Khan AO et al: C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. Ophthalmic Genet. 1-4, 2016
                                                          8. Little KJ et al: Congenital anomalies of the hand-principles of management. Orthop Clin North Am. 47(1):153-68, 2016
                                                          9. Galli A et al: Distinct roles of Hand2 in initiating polarity and posterior Shh expression during the onset of mouse limb bud development. PLoS Genet. 6(4):e1000901, 2010
                                                          10. Slee J et al: Further evidence for preaxial hallucal polydactyly as a marker of diabetic embryopathy. J Med Genet. 34(3):261-3, 1997