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Imaging
Top Differential Diagnoses
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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
- Central ray defect characteristics
- 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
- 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
- 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
- Sowińska-Seidler A et al: Split-hand/foot malformation - molecular cause and implications in genetic counseling. J Appl Genet. 55(1):105-15, 2014
- 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
- 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
- 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
- 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
- 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
- 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
- Allen LM et al: Three-dimensional sonographic findings associated with ectrodactyly ectodermal dysplasia clefting syndrome. J Ultrasound Med. 27(1):149-54, 2008
- 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
- Friedli M et al: Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3. Mamm Genome. 19(4):272-8, 2008
- 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
- 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
- Menke LA et al: Ectrodactyly with fibular aplasia: a separate entity? Eur J Med Genet. 51(5):488-96, 2008
- 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
- Basel D et al: The expanding panorama of split hand foot malformation. Am J Med Genet A. 140(13):1359-65, 2006
- 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
- 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
- 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
- Bell SM et al: Shh signaling in limb bud ectoderm: potential role in teratogen-induced postaxial ectrodactyly. Dev Dyn. 233(2):313-25, 2005
- Brunner HG et al: P63 gene mutations and human developmental syndromes. Am J Med Genet. 112(3):284-90, 2002
- 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
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References
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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
- Central ray defect characteristics
- 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
- 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
- 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
- Sowińska-Seidler A et al: Split-hand/foot malformation - molecular cause and implications in genetic counseling. J Appl Genet. 55(1):105-15, 2014
- 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
- 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
- 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
- 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
- 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
- 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
- Allen LM et al: Three-dimensional sonographic findings associated with ectrodactyly ectodermal dysplasia clefting syndrome. J Ultrasound Med. 27(1):149-54, 2008
- 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
- Friedli M et al: Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3. Mamm Genome. 19(4):272-8, 2008
- 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
- 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
- Menke LA et al: Ectrodactyly with fibular aplasia: a separate entity? Eur J Med Genet. 51(5):488-96, 2008
- 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
- Basel D et al: The expanding panorama of split hand foot malformation. Am J Med Genet A. 140(13):1359-65, 2006
- 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
- 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
- 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
- Bell SM et al: Shh signaling in limb bud ectoderm: potential role in teratogen-induced postaxial ectrodactyly. Dev Dyn. 233(2):313-25, 2005
- Brunner HG et al: P63 gene mutations and human developmental syndromes. Am J Med Genet. 112(3):284-90, 2002
- 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
