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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
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
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
Kaltcheva MM et al: BMPs are direct triggers of interdigital programmed cell death. Dev Biol. 411(2):266-76, 2016
Little KJ et al: Congenital anomalies of the hand-principles of management. Orthop Clin North Am. 47(1):153-68, 2016
Wall LB et al: Synpolydactyly of the hand: a radiographic classification. J Hand Surg Eur Vol. 41(3):301-7, 2016
Deng H et al: Advances in the molecular genetics of non-syndromic syndactyly. Curr Genomics. 16(3):183-93, 2015
Faust KC et al: Polydactyly of the hand. Am J Orthop (Belle Mead NJ). 44(5):E127-34, 2015
Kozin SH et al: Common pediatric congenital conditions of the hand. Plast Reconstr Surg. 136(2):241e-257e, 2015
Mandarano-Filho LG et al: Congenital syndactyly: case by case analysis of 47 patients. Acta Ortop Bras. 21(6):333-5, 2013
Jose RM et al: Syndactyly correction: an aesthetic reconstruction. J Hand Surg Eur Vol. 35(6):446-50, 2010
Montero JA et al: Sculpturing digit shape by cell death. Apoptosis. 15(3):365-75, 2010
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
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
Omi M et al: Studies on epidermal growth factor receptor signaling in vertebrate limb patterning. Dev Dyn. 2005
Dao KD et al: Surgical treatment of congenital syndactyly of the hand. J Am Acad Orthop Surg. 12(1):39-48, 2004
Wang CK et al: Function of BMPs in the apical ectoderm of the developing mouse limb. Dev Biol. 269(1):109-22, 2004
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
Winter RM et al: Syndactylies and polydactylies: embryological overview and suggested classification. Eur J Hum Genet. 1(1):96-104, 1993
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
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
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
Kaltcheva MM et al: BMPs are direct triggers of interdigital programmed cell death. Dev Biol. 411(2):266-76, 2016
Little KJ et al: Congenital anomalies of the hand-principles of management. Orthop Clin North Am. 47(1):153-68, 2016
Wall LB et al: Synpolydactyly of the hand: a radiographic classification. J Hand Surg Eur Vol. 41(3):301-7, 2016
Deng H et al: Advances in the molecular genetics of non-syndromic syndactyly. Curr Genomics. 16(3):183-93, 2015
Faust KC et al: Polydactyly of the hand. Am J Orthop (Belle Mead NJ). 44(5):E127-34, 2015
Kozin SH et al: Common pediatric congenital conditions of the hand. Plast Reconstr Surg. 136(2):241e-257e, 2015
Mandarano-Filho LG et al: Congenital syndactyly: case by case analysis of 47 patients. Acta Ortop Bras. 21(6):333-5, 2013
Jose RM et al: Syndactyly correction: an aesthetic reconstruction. J Hand Surg Eur Vol. 35(6):446-50, 2010
Montero JA et al: Sculpturing digit shape by cell death. Apoptosis. 15(3):365-75, 2010
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
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
Omi M et al: Studies on epidermal growth factor receptor signaling in vertebrate limb patterning. Dev Dyn. 2005
Dao KD et al: Surgical treatment of congenital syndactyly of the hand. J Am Acad Orthop Surg. 12(1):39-48, 2004
Wang CK et al: Function of BMPs in the apical ectoderm of the developing mouse limb. Dev Biol. 269(1):109-22, 2004
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
Winter RM et al: Syndactylies and polydactylies: embryological overview and suggested classification. Eur J Hum Genet. 1(1):96-104, 1993
Upton J: Apert syndrome. Classification and pathologic anatomy of limb anomalies. Clin Plast Surg. 18(2):321-55, 1991
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