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Synpolydactyly type 3(SPD3)

MedGen UID:
344005
•Concept ID:
C1853255
•
Disease or Syndrome
Synonym: Synpolydactyly 3
 
Monarch Initiative: MONDO:0012447
OMIM®: 610234
Orphanet: ORPHA295199

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Synpolydactyly type 3 in Orphanet.

Recent clinical studies

Etiology

Synpolydactyly of the hand: a radiographic classification.
Wall LB, Bae DS, Oishi SN, Calfee RP, Goldfarb CA
J Hand Surg Eur Vol 2016 Mar;41(3):301-7. Epub 2015 Aug 12 doi: 10.1177/1753193415598281. PMID: 26269507
Free fat graft for congenital hand differences.
Ogino T, Ishigaki D, Satake H, Iba K
Clin Orthop Surg 2012 Mar;4(1):45-57. Epub 2012 Feb 20 doi: 10.4055/cios.2012.4.1.45. PMID: 22379555Free PMC Article
Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.
Johnson D, Kan SH, Oldridge M, Trembath RC, Roche P, Esnouf RM, Giele H, Wilkie AO
Am J Hum Genet 2003 Apr;72(4):984-97. Epub 2003 Mar 14 doi: 10.1086/374721. PMID: 12649808Free PMC Article
A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data.
Sayli BS, Akarsu AN, Sayli U, Akhan O, Ceylaner S, Sarfarazi M
J Med Genet 1995 Jun;32(6):421-34. doi: 10.1136/jmg.32.6.421. PMID: 7666393Free PMC Article

Diagnosis

A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.
Ibrahim DM, Tayebi N, Knaus A, Stiege AC, Sahebzamani A, Hecht J, Mundlos S, Spielmann M
Am J Med Genet A 2016 Mar;170(3):615-21. Epub 2015 Nov 18 doi: 10.1002/ajmg.a.37464. PMID: 26581570

Prognosis

A rare TTC30B variant is identified as a candidate for synpolydactyly in a Chinese pedigree.
Du Y, Chen F, Zhang J, Lin Z, Ma Q, Xu G, Xiao D, Gui Y, Yang J, Wan S
Bone 2019 Oct;127:503-509. Epub 2019 Jul 12 doi: 10.1016/j.bone.2019.07.012. PMID: 31306809

Clinical prediction guides

Synpolydactyly of the hand: a radiographic classification.
Wall LB, Bae DS, Oishi SN, Calfee RP, Goldfarb CA
J Hand Surg Eur Vol 2016 Mar;41(3):301-7. Epub 2015 Aug 12 doi: 10.1177/1753193415598281. PMID: 26269507
Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12.
Malik S, Abbasi AA, Ansar M, Ahmad W, Koch MC, Grzeschik KH
Clin Genet 2006 Jun;69(6):518-24. doi: 10.1111/j.1399-0004.2006.00620.x. PMID: 16712704
The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly.
Debeer P, Schoenmakers EF, Twal WO, Argraves WS, De Smet L, Fryns JP, Van De Ven WJ
J Med Genet 2002 Feb;39(2):98-104. doi: 10.1136/jmg.39.2.98. PMID: 11836357Free PMC Article
Physical mapping of the t(12;22) translocation breakpoints in a family with a complex type of 3/3'/4 synpolydactyly.
Debeer P, Schoenmakers EF, Thoelen R, Fryns JP, Van de Ven WJ
Cytogenet Cell Genet 1998;81(3-4):229-34. doi: 10.1159/000015036. PMID: 9730609
A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data.
Sayli BS, Akarsu AN, Sayli U, Akhan O, Ceylaner S, Sarfarazi M
J Med Genet 1995 Jun;32(6):421-34. doi: 10.1136/jmg.32.6.421. PMID: 7666393Free PMC Article

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