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Split Hand/Foot Malformation
Janice L. B. Byrne, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Split hand/foot malformation (SHFM)
            • Synonyms

              • Ectrodactyly
              • Split hand/foot deformity (although malformation is more appropriate term)
              • Term lobster claw deformity should no longer be used
            • Definitions

              • Term derived from Greek ektroma (abortion) and daktylos (finger)
              • One of the most complex distal limb abnormalities
              • Characterized by deficiency/hypoplasia of phalanges, metacarpals, metatarsals, and deep median cleft; fusion of remaining digits
                • Central ray defect characteristics
                  • Cleft hand
                  • Monodactyly type with radial deficiency, absence of cleft
                • Aplasia/hypoplasia of phalanges, metacarpals, metatarsals, nails
                • Variable syndactyly
                • May be unilateral or bilateral
                • May involve only 1 or both hands, or hands and feet
              • May occur in isolation or as part of syndrome with mental retardation, orofacial clefts, ectodermal abnormalities, other complex limb deficiencies, hearing loss
                • 40% of individuals with split hand/foot have associated abnormalities suggestive of syndrome
              • Features are highly variable
                • Subtle digital abnormalities, abnormal crease patterns or syndactyly in obligate carrier
                • Cutaneous cleft without bony deficiencies
                • Deep cleft with medial ray deficiency
                • Monodactyly with single digit remnant

            IMAGING

            • General Features

              • Imaging Recommendations

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    • Staging, Grading, & Classification

                      CLINICAL ISSUES

                      • Presentation

                        • Demographics

                          • Natural History & Prognosis

                            • Treatment

                              DIAGNOSTIC CHECKLIST

                              • Consider

                                Selected References

                                1. Klar AJ: Selective chromatid segregation mechanism proposed for the human split hand/foot malformation development by chromosome 2 translocations: A perspective. Dev Biol. 408(1):7-13, 2015
                                2. Lu J et al: Prenatally diagnosed fetal split-hand/foot malformations often accompany a spectrum of anomalies. J Ultrasound Med. 33(1):167-76, 2014
                                3. Sowińska-Seidler A et al: Split-hand/foot malformation - molecular cause and implications in genetic counseling. J Appl Genet. 55(1):105-15, 2014
                                4. Gurrieri F et al: Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update. Am J Med Genet A. 161A(11):2860-72, 2013
                                5. Clements SE et al: Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation. Br J Dermatol. 162(1):201-7, 2010
                                6. Elsaid AF et al: Sensitivity to cadmium chloride-induced forelimb ectrodactyly is independent of the p53 gene-dosage in the C57BL/6J mouse. Birth Defects Res A Clin Mol Teratol. 88(4):223-7, 2010
                                7. Paranaiba L et al: Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate Syndrome Associated with p63 Mutation and an Uncommon Phenotype. Cleft Palate Craniofac J. Epub ahead of print, 2010
                                8. Chiu YE et al: A case of ankyloblepharon, ectodermal dysplasia, and cleft lip/palate syndrome with ectrodactyly: are the p63 syndromes distinct after all? Pediatr Dermatol. Epub ahead of print, 2009
                                9. Sorasio L et al: A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting. Clin Exp Dermatol. 34(8):e726-8, 2009
                                10. Allen LM et al: Three-dimensional sonographic findings associated with ectrodactyly ectodermal dysplasia clefting syndrome. J Ultrasound Med. 27(1):149-54, 2008
                                11. Bernardini L et al: Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes. Am J Med Genet A. 146A(2):238-44, 2008
                                12. Friedli M et al: Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3. Mamm Genome. 19(4):272-8, 2008
                                13. Lezirovitz K et al: A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3. Hum Genet. 123(6):625-31, 2008
                                14. Lo Iacono N et al: Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects. Development. 135(7):1377-88, 2008
                                15. Menke LA et al: Ectrodactyly with fibular aplasia: a separate entity? Eur J Med Genet. 51(5):488-96, 2008
                                16. Babbs C et al: A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation. Hum Genet. 122(2):191-9, 2007
                                17. Basel D et al: The expanding panorama of split hand foot malformation. Am J Med Genet A. 140(13):1359-65, 2006
                                18. Everman DB et al: Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation. Am J Med Genet A. 140(13):1375-83, 2006
                                19. Gurnett CA et al: Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11-q22.3. Am J Med Genet A. 140(16):1744-8, 2006
                                20. Lyle R et al: Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region. Am J Med Genet A. 140(13):1384-95, 2006
                                21. Bell SM et al: Shh signaling in limb bud ectoderm: potential role in teratogen-induced postaxial ectrodactyly. Dev Dyn. 233(2):313-25, 2005
                                22. Brunner HG et al: P63 gene mutations and human developmental syndromes. Am J Med Genet. 112(3):284-90, 2002
                                23. 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
                                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

                                          • Abbreviations

                                            • Split hand/foot malformation (SHFM)
                                          • Synonyms

                                            • Ectrodactyly
                                            • Split hand/foot deformity (although malformation is more appropriate term)
                                            • Term lobster claw deformity should no longer be used
                                          • Definitions

                                            • Term derived from Greek ektroma (abortion) and daktylos (finger)
                                            • One of the most complex distal limb abnormalities
                                            • Characterized by deficiency/hypoplasia of phalanges, metacarpals, metatarsals, and deep median cleft; fusion of remaining digits
                                              • Central ray defect characteristics
                                                • Cleft hand
                                                • Monodactyly type with radial deficiency, absence of cleft
                                              • Aplasia/hypoplasia of phalanges, metacarpals, metatarsals, nails
                                              • Variable syndactyly
                                              • May be unilateral or bilateral
                                              • May involve only 1 or both hands, or hands and feet
                                            • May occur in isolation or as part of syndrome with mental retardation, orofacial clefts, ectodermal abnormalities, other complex limb deficiencies, hearing loss
                                              • 40% of individuals with split hand/foot have associated abnormalities suggestive of syndrome
                                            • Features are highly variable
                                              • Subtle digital abnormalities, abnormal crease patterns or syndactyly in obligate carrier
                                              • Cutaneous cleft without bony deficiencies
                                              • Deep cleft with medial ray deficiency
                                              • Monodactyly with single digit remnant

                                          IMAGING

                                          • General Features

                                            • Imaging Recommendations

                                              DIFFERENTIAL DIAGNOSIS

                                                PATHOLOGY

                                                • General Features

                                                  • Staging, Grading, & Classification

                                                    CLINICAL ISSUES

                                                    • Presentation

                                                      • Demographics

                                                        • Natural History & Prognosis

                                                          • Treatment

                                                            DIAGNOSTIC CHECKLIST

                                                            • Consider

                                                              Selected References

                                                              1. Klar AJ: Selective chromatid segregation mechanism proposed for the human split hand/foot malformation development by chromosome 2 translocations: A perspective. Dev Biol. 408(1):7-13, 2015
                                                              2. Lu J et al: Prenatally diagnosed fetal split-hand/foot malformations often accompany a spectrum of anomalies. J Ultrasound Med. 33(1):167-76, 2014
                                                              3. Sowińska-Seidler A et al: Split-hand/foot malformation - molecular cause and implications in genetic counseling. J Appl Genet. 55(1):105-15, 2014
                                                              4. Gurrieri F et al: Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update. Am J Med Genet A. 161A(11):2860-72, 2013
                                                              5. Clements SE et al: Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation. Br J Dermatol. 162(1):201-7, 2010
                                                              6. Elsaid AF et al: Sensitivity to cadmium chloride-induced forelimb ectrodactyly is independent of the p53 gene-dosage in the C57BL/6J mouse. Birth Defects Res A Clin Mol Teratol. 88(4):223-7, 2010
                                                              7. Paranaiba L et al: Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate Syndrome Associated with p63 Mutation and an Uncommon Phenotype. Cleft Palate Craniofac J. Epub ahead of print, 2010
                                                              8. Chiu YE et al: A case of ankyloblepharon, ectodermal dysplasia, and cleft lip/palate syndrome with ectrodactyly: are the p63 syndromes distinct after all? Pediatr Dermatol. Epub ahead of print, 2009
                                                              9. Sorasio L et al: A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting. Clin Exp Dermatol. 34(8):e726-8, 2009
                                                              10. Allen LM et al: Three-dimensional sonographic findings associated with ectrodactyly ectodermal dysplasia clefting syndrome. J Ultrasound Med. 27(1):149-54, 2008
                                                              11. Bernardini L et al: Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes. Am J Med Genet A. 146A(2):238-44, 2008
                                                              12. Friedli M et al: Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3. Mamm Genome. 19(4):272-8, 2008
                                                              13. Lezirovitz K et al: A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3. Hum Genet. 123(6):625-31, 2008
                                                              14. Lo Iacono N et al: Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects. Development. 135(7):1377-88, 2008
                                                              15. Menke LA et al: Ectrodactyly with fibular aplasia: a separate entity? Eur J Med Genet. 51(5):488-96, 2008
                                                              16. Babbs C et al: A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation. Hum Genet. 122(2):191-9, 2007
                                                              17. Basel D et al: The expanding panorama of split hand foot malformation. Am J Med Genet A. 140(13):1359-65, 2006
                                                              18. Everman DB et al: Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation. Am J Med Genet A. 140(13):1375-83, 2006
                                                              19. Gurnett CA et al: Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11-q22.3. Am J Med Genet A. 140(16):1744-8, 2006
                                                              20. Lyle R et al: Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region. Am J Med Genet A. 140(13):1384-95, 2006
                                                              21. Bell SM et al: Shh signaling in limb bud ectoderm: potential role in teratogen-induced postaxial ectrodactyly. Dev Dyn. 233(2):313-25, 2005
                                                              22. Brunner HG et al: P63 gene mutations and human developmental syndromes. Am J Med Genet. 112(3):284-90, 2002
                                                              23. 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