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Obstetrics
Diagnosis
Musculoskeletal
Extremity Malformations
Syndactyly
Syndactyly
Janice L. B. Byrne, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          TERMINOLOGY

          • Definitions

            • Syndactyly: Greek for digits grown together
            • Partial or incomplete syndactyly: Affects only proximal segments of digits
            • Complete syndactyly: Affects length of digits to level of nails
            • Polysyndactyly/synpolydactyly: Combination of duplicated and fused digits
            • Symphalangism: Synostosis of joints of digits
            • Zygodactyly: Shallow, membranous webbing of 2nd-3rd toes, most prominent on plantar surface
            • Acrosyndactyly: Soft tissue attachment of distal digits with nonattached proximal segments

          IMAGING

          • General Features

            • Imaging Recommendations

              DIFFERENTIAL DIAGNOSIS

                PATHOLOGY

                • General Features

                  CLINICAL ISSUES

                  • Presentation

                    • Demographics

                      • Natural History & Prognosis

                        • Treatment

                          DIAGNOSTIC CHECKLIST

                          • Image Interpretation Pearls

                            Selected References

                            1. Hines EA et al: Syndactyly in a novel Fras1<sup>rdf</sup> mutant results from interruption of signals for interdigital apoptosis. Dev Dyn. ePub, 2016
                            2. Ibrahim DM et al: A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation. Am J Med Genet A. 170(3):615-21, 2016
                            3. Kaltcheva MM et al: BMPs are direct triggers of interdigital programmed cell death. Dev Biol. 411(2):266-76, 2016
                            4. Little KJ et al: Congenital anomalies of the hand-principles of management. Orthop Clin North Am. 47(1):153-68, 2016
                            5. Wall LB et al: Synpolydactyly of the hand: a radiographic classification. J Hand Surg Eur Vol. 41(3):301-7, 2016
                            6. Deng H et al: Advances in the molecular genetics of non-syndromic syndactyly. Curr Genomics. 16(3):183-93, 2015
                            7. Faust KC et al: Polydactyly of the hand. Am J Orthop (Belle Mead NJ). 44(5):E127-34, 2015
                            8. Kozin SH et al: Common pediatric congenital conditions of the hand. Plast Reconstr Surg. 136(2):241e-257e, 2015
                            9. Mandarano-Filho LG et al: Congenital syndactyly: case by case analysis of 47 patients. Acta Ortop Bras. 21(6):333-5, 2013
                            10. Jose RM et al: Syndactyly correction: an aesthetic reconstruction. J Hand Surg Eur Vol. 35(6):446-50, 2010
                            11. Montero JA et al: Sculpturing digit shape by cell death. Apoptosis. 15(3):365-75, 2010
                            12. Timor-Tritsch IE et al: Greig cephalopolysyndactyly syndrome: diagnosis based on prenatal sonographic features coupled with comparative genomic hybridization. J Ultrasound Med. 28(12):1735-42, 2009
                            13. Johnston JJ et al: Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet. 76(4):609-22, 2005
                            14. Omi M et al: Studies on epidermal growth factor receptor signaling in vertebrate limb patterning. Dev Dyn. 2005
                            15. Dao KD et al: Surgical treatment of congenital syndactyly of the hand. J Am Acad Orthop Surg. 12(1):39-48, 2004
                            16. Wang CK et al: Function of BMPs in the apical ectoderm of the developing mouse limb. Dev Biol. 269(1):109-22, 2004
                            17. van Bokhoven H et al: p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet. 69(3):481-92, 2001
                            18. Winter RM et al: Syndactylies and polydactylies: embryological overview and suggested classification. Eur J Hum Genet. 1(1):96-104, 1993
                            19. Upton J: Apert syndrome. Classification and pathologic anatomy of limb anomalies. Clin Plast Surg. 18(2):321-55, 1991
                            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

                                      • Syndactyly: Greek for digits grown together
                                      • Partial or incomplete syndactyly: Affects only proximal segments of digits
                                      • Complete syndactyly: Affects length of digits to level of nails
                                      • Polysyndactyly/synpolydactyly: Combination of duplicated and fused digits
                                      • Symphalangism: Synostosis of joints of digits
                                      • Zygodactyly: Shallow, membranous webbing of 2nd-3rd toes, most prominent on plantar surface
                                      • Acrosyndactyly: Soft tissue attachment of distal digits with nonattached proximal segments

                                    IMAGING

                                    • General Features

                                      • Imaging Recommendations

                                        DIFFERENTIAL DIAGNOSIS

                                          PATHOLOGY

                                          • General Features

                                            CLINICAL ISSUES

                                            • Presentation

                                              • Demographics

                                                • Natural History & Prognosis

                                                  • Treatment

                                                    DIAGNOSTIC CHECKLIST

                                                    • Image Interpretation Pearls

                                                      Selected References

                                                      1. Hines EA et al: Syndactyly in a novel Fras1<sup>rdf</sup> mutant results from interruption of signals for interdigital apoptosis. Dev Dyn. ePub, 2016
                                                      2. Ibrahim DM et al: A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation. Am J Med Genet A. 170(3):615-21, 2016
                                                      3. Kaltcheva MM et al: BMPs are direct triggers of interdigital programmed cell death. Dev Biol. 411(2):266-76, 2016
                                                      4. Little KJ et al: Congenital anomalies of the hand-principles of management. Orthop Clin North Am. 47(1):153-68, 2016
                                                      5. Wall LB et al: Synpolydactyly of the hand: a radiographic classification. J Hand Surg Eur Vol. 41(3):301-7, 2016
                                                      6. Deng H et al: Advances in the molecular genetics of non-syndromic syndactyly. Curr Genomics. 16(3):183-93, 2015
                                                      7. Faust KC et al: Polydactyly of the hand. Am J Orthop (Belle Mead NJ). 44(5):E127-34, 2015
                                                      8. Kozin SH et al: Common pediatric congenital conditions of the hand. Plast Reconstr Surg. 136(2):241e-257e, 2015
                                                      9. Mandarano-Filho LG et al: Congenital syndactyly: case by case analysis of 47 patients. Acta Ortop Bras. 21(6):333-5, 2013
                                                      10. Jose RM et al: Syndactyly correction: an aesthetic reconstruction. J Hand Surg Eur Vol. 35(6):446-50, 2010
                                                      11. Montero JA et al: Sculpturing digit shape by cell death. Apoptosis. 15(3):365-75, 2010
                                                      12. Timor-Tritsch IE et al: Greig cephalopolysyndactyly syndrome: diagnosis based on prenatal sonographic features coupled with comparative genomic hybridization. J Ultrasound Med. 28(12):1735-42, 2009
                                                      13. Johnston JJ et al: Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet. 76(4):609-22, 2005
                                                      14. Omi M et al: Studies on epidermal growth factor receptor signaling in vertebrate limb patterning. Dev Dyn. 2005
                                                      15. Dao KD et al: Surgical treatment of congenital syndactyly of the hand. J Am Acad Orthop Surg. 12(1):39-48, 2004
                                                      16. Wang CK et al: Function of BMPs in the apical ectoderm of the developing mouse limb. Dev Biol. 269(1):109-22, 2004
                                                      17. van Bokhoven H et al: p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet. 69(3):481-92, 2001
                                                      18. Winter RM et al: Syndactylies and polydactylies: embryological overview and suggested classification. Eur J Hum Genet. 1(1):96-104, 1993
                                                      19. Upton J: Apert syndrome. Classification and pathologic anatomy of limb anomalies. Clin Plast Surg. 18(2):321-55, 1991
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