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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 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 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
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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
- Central ray defect characteristics
- 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
