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 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 intellectual disability, orofacial clefts, 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
Umair M et al: Nonsyndromic split-hand/foot malformation: recent classification. Mol Syndromol. 10(5):243-54, 2020
Guero S et al: Insights into the pathogenesis and treatment of split/hand foot malformation (cleft hand/foot). J Hand Surg Eur Vol. 44(1):80-7, 2019
Kantaputra PN et al: Genetic regulatory pathways of split-hand/foot malformation. Clin Genet. 95(1):132-9, 2019
Soares E et al: Single-cell RNA-seq identifies a reversible mesodermal activation in abnormally specified epithelia of p63 EEC syndrome. Proc Natl Acad Sci U S A. 116(35):17361-70, 2019
Ashi M et al: Bilateral split hand foot malformation in siblings: case series. Int J Surg Case Rep. 44:114-7, 2018
Rosa RFM et al: SIblings affected by ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome presenting normal parents: germline mosaicism? Rev Paul Pediatr. 35(2):234-8, 2017
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
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
Paranaiba L et al: Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome associated with p63 mutation and an uncommon phenotype. Cleft Palate Craniofac J. 47(5):544-7, 2010
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
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
Bell SM et al: Shh signaling in limb bud ectoderm: potential role in teratogen-induced postaxial ectrodactyly. Dev Dyn. 233(2):313-25, 2005
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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 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 intellectual disability, orofacial clefts, 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
Umair M et al: Nonsyndromic split-hand/foot malformation: recent classification. Mol Syndromol. 10(5):243-54, 2020
Guero S et al: Insights into the pathogenesis and treatment of split/hand foot malformation (cleft hand/foot). J Hand Surg Eur Vol. 44(1):80-7, 2019
Kantaputra PN et al: Genetic regulatory pathways of split-hand/foot malformation. Clin Genet. 95(1):132-9, 2019
Soares E et al: Single-cell RNA-seq identifies a reversible mesodermal activation in abnormally specified epithelia of p63 EEC syndrome. Proc Natl Acad Sci U S A. 116(35):17361-70, 2019
Ashi M et al: Bilateral split hand foot malformation in siblings: case series. Int J Surg Case Rep. 44:114-7, 2018
Rosa RFM et al: SIblings affected by ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome presenting normal parents: germline mosaicism? Rev Paul Pediatr. 35(2):234-8, 2017
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
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
Paranaiba L et al: Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome associated with p63 mutation and an uncommon phenotype. Cleft Palate Craniofac J. 47(5):544-7, 2010
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
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
Bell SM et al: Shh signaling in limb bud ectoderm: potential role in teratogen-induced postaxial ectrodactyly. Dev Dyn. 233(2):313-25, 2005
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