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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

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
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
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.
Zhao X, Sun M, Zhao J, Leyva JA, Zhu H, Yang W, Zeng X, Ao Y, Liu Q, Liu G, Lo WH, Jabs EW, Amzel LM, Shan X, Zhang X
Am J Hum Genet 2007 Feb;80(2):361-71. Epub 2007 Jan 3 doi: 10.1086/511387. PMID: 17236141Free PMC Article
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

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