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Central polydactyly of fingers

MedGen UID:
609220
•Concept ID:
C0431903
•
Congenital Abnormality
Synonym: Mesoaxial polydactyly
SNOMED CT: Central polydactyly of fingers (205130008); Mesoaxial polydactyly of fingers (205130008)
 
HPO: HP:0100260
Monarch Initiative: MONDO:0017456
Orphanet: ORPHA295004

Definition

The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCentral polydactyly of fingers
Follow this link to review classifications for Central polydactyly of fingers in Orphanet.

Conditions with this feature

Bardet-Biedl syndrome 17
MedGen UID:
811538
•Concept ID:
C3714980
•
Disease or Syndrome
Bardet-Biedl syndrome-17 (BBS17) is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17, mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).
See: Condition Record
Bardet-Biedl syndrome 17

Professional guidelines

PubMed

Bardet-Biedl Syndrome-Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype-Phenotype Correlations.
Florea L, Caba L, Gorduza EV
Genes (Basel) 2021 Aug 29;12(9) doi: 10.3390/genes12091353. PMID: 34573333Free PMC Article
New insights into genotype-phenotype correlation for GLI3 mutations.
Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue MA, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, André G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont ML, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet ML, Cormier-Daire V, Devisme L, Geneviève D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T
Eur J Hum Genet 2015 Jan;23(1):92-102. Epub 2014 Apr 16 doi: 10.1038/ejhg.2014.62. PMID: 24736735Free PMC Article
Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
Chen CP
Taiwan J Obstet Gynecol 2007 Mar;46(1):9-14. doi: 10.1016/S1028-4559(08)60100-X. PMID: 17389183

Recent clinical studies

Etiology

Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism.
Corder ML, Berland S, Førsvoll JA, Banerjee I, Murray P, Bratland E, Gokhale D, Houge G, Douzgou S
Am J Med Genet A 2022 Apr;188(4):1065-1074. Epub 2021 Dec 17 doi: 10.1002/ajmg.a.62611. PMID: 34921505
Clinical Characteristics and Distribution of Thumb Polydactyly in South China: A Retrospective Analysis of 483 Hands.
Lin S, Tong K, Zhang G, Cao S, Zhong Z, Wang G
J Hand Surg Am 2020 Oct;45(10):938-946. Epub 2020 May 28 doi: 10.1016/j.jhsa.2020.04.003. PMID: 32473835
Polydactyly: a review.
Guo B, Lee SK, Paksima N
Bull Hosp Jt Dis (2013) 2013;71(1):17-23. PMID: 24032579
The Greig cephalopolysyndactyly syndrome.
Biesecker LG
Orphanet J Rare Dis 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. PMID: 18435847Free PMC Article
Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
Chen CP
Taiwan J Obstet Gynecol 2007 Mar;46(1):9-14. doi: 10.1016/S1028-4559(08)60100-X. PMID: 17389183

Diagnosis

Update of surgical treatment of polydactyly.
Tawfeeq Y, Hendry JM, Wood KS
Curr Opin Pediatr 2023 Feb 1;35(1):124-130. Epub 2022 Nov 22 doi: 10.1097/MOP.0000000000001204. PMID: 36412268
Polydactyly: A Review.
Farrugia MC, Calleja-Agius J
Neonatal Netw 2016;35(3):135-42. doi: 10.1891/0730-0832.35.3.135. PMID: 27194607
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
Polydactyly: a review.
Guo B, Lee SK, Paksima N
Bull Hosp Jt Dis (2013) 2013;71(1):17-23. PMID: 24032579
Bardet-Biedl syndrome.
Keith CG
Aust J Ophthalmol 1984 May;12(2):143-8. PMID: 6487184

Therapy

Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome.
Galasso C, Scirè G, Fabbri F, Spadoni GL, Killoran CE, Biesecker LG, Boscherini B
Am J Med Genet 2001 Mar 1;99(2):128-31. doi: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1128>3.0.co;2-s. PMID: 11241471
Defects of the central nervous system in Finland: V. Multivariate analysis of risk indicators.
Granroth G, Haapakoski J, Saxén L
Int J Epidemiol 1978 Dec;7(4):301-8. doi: 10.1093/ije/7.4.301. PMID: 744666
Defects of the central nervous system in Finland: III. Disease and drugs in pregnancy.
Granroth G
Early Hum Dev 1978 Jul;2(2):147-62. doi: 10.1016/0378-3782(78)90007-5. PMID: 569047

Prognosis

Targeted exome sequencing reveals a novel GLI3 mutation in a Chinese family with nonsyndromic polydactyly.
Zhao X, Xu H, Liu X, Li L
Dev Dyn 2019 Oct;248(10):942-947. Epub 2019 Jul 24 doi: 10.1002/dvdy.89. PMID: 31306531
Clinical Presentation, Surgical Treatment, and Outcome in Radial Polydactyly.
Dijkman RR, van Nieuwenhoven CA, Hovius SE, Hülsemann W
Handchir Mikrochir Plast Chir 2016 Feb;48(1):10-7. Epub 2016 Feb 19 doi: 10.1055/s-0042-100460. PMID: 26895514
"At fingers' ends": risk factors and perinatal outcome of pregnancies complicated by digital malformations.
Tzur T, Sheiner E, Weintraub AY, Mazor M, Wiznitzer A, Silberstein E, Holcberg G, Silberstein T
Arch Gynecol Obstet 2011 Jan;283(1):47-52. Epub 2009 Nov 5 doi: 10.1007/s00404-009-1275-x. PMID: 19890655
The Greig cephalopolysyndactyly syndrome.
Biesecker LG
Orphanet J Rare Dis 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. PMID: 18435847Free PMC Article
Congenital duplication of the thumb.
Cooney WP, Wolf J, Holtkamp K, Dobyns JH
Handchir Mikrochir Plast Chir 2004 Apr-Jun;36(2-3):126-36. doi: 10.1055/s-2004-817941. PMID: 15162310

Clinical prediction guides

GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third.
Sczakiel HL, Hülsemann W, Holtgrewe M, Abad-Perez AT, Elsner J, Schwartzmann S, Horn D, Spielmann M, Mundlos S, Mensah MA
Clin Genet 2021 Dec;100(6):758-765. Epub 2021 Sep 16 doi: 10.1111/cge.14059. PMID: 34482537
Clinical Characteristics and Distribution of Thumb Polydactyly in South China: A Retrospective Analysis of 483 Hands.
Lin S, Tong K, Zhang G, Cao S, Zhong Z, Wang G
J Hand Surg Am 2020 Oct;45(10):938-946. Epub 2020 May 28 doi: 10.1016/j.jhsa.2020.04.003. PMID: 32473835
Targeted exome sequencing reveals a novel GLI3 mutation in a Chinese family with nonsyndromic polydactyly.
Zhao X, Xu H, Liu X, Li L
Dev Dyn 2019 Oct;248(10):942-947. Epub 2019 Jul 24 doi: 10.1002/dvdy.89. PMID: 31306531
New insights into genotype-phenotype correlation for GLI3 mutations.
Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue MA, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, André G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont ML, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet ML, Cormier-Daire V, Devisme L, Geneviève D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T
Eur J Hum Genet 2015 Jan;23(1):92-102. Epub 2014 Apr 16 doi: 10.1038/ejhg.2014.62. PMID: 24736735Free PMC Article
Cleft hand.
Ogino T
Hand Clin 1990 Nov;6(4):661-71. PMID: 2176655

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