Non-syndromic complex polydactyly

MedGen UID:: 1842379
•Concept ID:: C5681241
•: Congenital Abnormality

Orphanet:

ORPHA498470

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVNon-syndromic complex polydactyly

Non-syndromic complex polydactyly
- Central polydactyly of fingers
  - Mesoaxial foot polydactyly
  - Mesoaxial hand polydactyly

Recent clinical studies

Etiology

Genetic analysis of preaxial polydactyly: identification of novel variants and the role of ZRS duplications in a Chinese cohort of 102 cases.

Pu S, Wang Z, Tang X, Wang D, Yang X, Jiang J, Deng Y, Xiang B, Yang J, Wang X, Guo X, Sun M, Wang B, Chen J
Hum Genet 2024 Dec;143(12):1433-1444. Epub 2024 Oct 24 doi: 10.1007/s00439-024-02709-7. PMID: 39446226

Syndactylies and polydactylies: embryological overview and suggested classification.

Winter RM, Tickle C
Eur J Hum Genet 1993;1(1):96-104. doi: 10.1159/000472392. PMID: 7915184

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Diagnosis

Advances in the molecular genetics of non-syndromic polydactyly.

Deng H, Tan T, Yuan L
Expert Rev Mol Med 2015 Oct 30;17:e18. doi: 10.1017/erm.2015.18. PMID: 26515020

Two Indian families with Greig cephalopolysyndactyly with non-syndromic phenotype.

Sethi SK, Goyal D, Khalil S, Yadav DK
Eur J Pediatr 2013 Aug;172(8):1131-5. Epub 2013 Jan 19 doi: 10.1007/s00431-013-1938-2. PMID: 23334564

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Clinical prediction guides

A novel frame-shift mutation of GLI3 causes non-syndromic and complex digital anomalies in a Chinese family.

Cheng F, Ke X, Lv M, Zhang F, Li C, Zhang X, Zhang Y, Zhao X, Wang X, Liu B, Han J, Li Y, Zeng C, Li S
Clin Chim Acta 2011 May 12;412(11-12):1012-7. Epub 2011 Feb 12 doi: 10.1016/j.cca.2011.02.007. PMID: 21320477

Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36.

Zguricas J, Heus H, Morales-Peralta E, Breedveld G, Kuyt B, Mumcu EF, Bakker W, Akarsu N, Kay SP, Hovius SE, Heredero-Baute L, Oostra BA, Heutink P
J Med Genet 1999 Jan;36(1):32-40. PMID: 9950363 Free PMC Article

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Non-syndromic complex polydactyly

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Clinical prediction guides

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Clinical resources

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Reviews

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