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polysyndactyly

MedGen UID:
78565
•Concept ID:
C0265553
•
Congenital Abnormality
Synonym: Polysyndactyly
SNOMED CT: Polysyndactyly (84598000)

Definition

A rare anatomical malformation characterized by polydactyly (extra fingers or toes) and syndactyly (webbed fingers or toes). [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • polysyndactyly
Follow this link to review classifications for polysyndactyly in Orphanet.

Professional guidelines

PubMed

Prenatal diagnosis of Greig Cephalopolysyndactyly Syndrome. When to suspect it.
Garcia-Rodriguez R, Rodriguez-Rodriguez R, Garcia-Delgado R, Romero-Requejo A, Medina-Castellano M, Garcia Cruz L, Santana Rodriguez A, Garcia-Hernandez JA
J Matern Fetal Neonatal Med 2022 Jun;35(11):2162-2165. Epub 2020 Jun 4 doi: 10.1080/14767058.2020.1774541. PMID: 32495660
Management of Paronychia in Patients With Apert Syndrome.
Kim JS, Block LM, Zhu X, Davit AJ
Tech Hand Up Extrem Surg 2020 May 8;25(1):30-34. doi: 10.1097/BTH.0000000000000295. PMID: 32398550
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

Recent clinical studies

Etiology

Reconstruction of polysyndactyly of the fused fifth toe with the fourth toe.
Du Z, Cui Y, Jiang H, Han D
J Pediatr Orthop B 2023 Jan 1;32(1):34-38. doi: 10.1097/BPB.0000000000001020. PMID: 36445381
Single-stage Congenital Polysyndactyly Release: Outcomes and Long-term Followup.
Nazerani S, Nazerani T, Keramati MR
Tech Hand Up Extrem Surg 2022 Dec 1;26(4):276-281. doi: 10.1097/BTH.0000000000000399. PMID: 35698302
Eye development genes and known syndromes.
Slavotinek AM
Mol Genet Metab 2011 Dec;104(4):448-56. Epub 2011 Sep 29 doi: 10.1016/j.ymgme.2011.09.029. PMID: 22005280Free PMC Article
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
Ulnar polydactyly.
Rayan GM, Frey B
Plast Reconstr Surg 2001 May;107(6):1449-54; discussion 1455-7. doi: 10.1097/00006534-200105000-00021. PMID: 11335816

Diagnosis

"Laurin-Sandrow Syndrome - a review of the literature and classification system".
Buzea C, Boulanger N
Clin Dysmorphol 2022 Jul 1;31(3):109-112. Epub 2022 Mar 7 doi: 10.1097/MCD.0000000000000420. PMID: 35256564
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
Novel GLI3 pathogenic variants in complex pre- and postaxial polysyndactyly and Greig cephalopolysyndactyly syndrome.
Patel R, Singh SK, Bhattacharya V, Ali A
Am J Med Genet A 2021 Jan;185(1):97-104. Epub 2020 Oct 15 doi: 10.1002/ajmg.a.61919. PMID: 33058447
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
Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister-Hall syndrome.
Löw M, Moringlane JR, Reif J, Barbier D, Beige G, Kolles H, Kujat C, Zang KD, Henn W
Clin Genet 1995 Oct;48(4):209-12. doi: 10.1111/j.1399-0004.1995.tb04090.x. PMID: 8591673

Therapy

Measuring parent proxy-reported quality of life of 11 rare diseases in children in Zhejiang, China.
Gao Q, Wang S, Ren J, Wen X
Health Qual Life Outcomes 2020 Nov 23;18(1):372. doi: 10.1186/s12955-020-01572-0. PMID: 33225969Free PMC Article
Acute myocardial infarction and haemodynamic stroke in a young patient with Bardet-Biedl syndrome.
Alexander V, George T, Devarajan G, Zachariah A
BMJ Case Rep 2019 Apr 30;12(4) doi: 10.1136/bcr-2019-229788. PMID: 31040148Free PMC Article
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.
Schrauwen I, Giese AP, Aziz A, Lafont DT, Chakchouk I, Santos-Cortez RLP, Lee K, Acharya A, Khan FS, Ullah A, Nickerson DA, Bamshad MJ, Ali G, Riazuddin S, Ansar M, Ahmad W, Ahmed ZM, Leal SM
J Bone Miner Res 2019 Feb;34(2):375-386. Epub 2018 Nov 5 doi: 10.1002/jbmr.3594. PMID: 30395363Free PMC Article
A population-based case-control teratologic study of promethazine use during pregnancy.
Bártfai Z, Kocsis J, Puhó EH, Czeizel AE
Reprod Toxicol 2008 Feb;25(2):276-85. Epub 2007 Dec 28 doi: 10.1016/j.reprotox.2007.12.006. PMID: 18272326
Steroid contraceptive use and pregnancy outcome.
Pardthaisong T, Gray RH, McDaniel EB, Chandacham A
Teratology 1988 Jul;38(1):51-8. doi: 10.1002/tera.1420380108. PMID: 2845595

Prognosis

Single-stage Congenital Polysyndactyly Release: Outcomes and Long-term Followup.
Nazerani S, Nazerani T, Keramati MR
Tech Hand Up Extrem Surg 2022 Dec 1;26(4):276-281. doi: 10.1097/BTH.0000000000000399. PMID: 35698302
Eye development genes and known syndromes.
Slavotinek AM
Mol Genet Metab 2011 Dec;104(4):448-56. Epub 2011 Sep 29 doi: 10.1016/j.ymgme.2011.09.029. PMID: 22005280Free PMC Article
Laurin-Sandrow syndrome: review and redefinition.
Mariño-Enríquez A, Lapunzina P, Omeñaca F, Morales C, Rodríguez JI
Am J Med Genet A 2008 Oct 1;146A(19):2557-65. doi: 10.1002/ajmg.a.32393. PMID: 18792985
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
Hemihypertrophy, hemimegalencephaly, and polydactyly.
Reardon W, Harding B, Winter RM, Baraitser M
Am J Med Genet 1996 Dec 11;66(2):144-9. doi: 10.1002/(SICI)1096-8628(19961211)66:2<144::AID-AJMG4>3.0.CO;2-R. PMID: 8958320

Clinical prediction guides

Operative Management of Y-Shaped Metatarsal with Biphalangeal Sixth Toe.
Montaño-Jiménez P, Pérez-Belloso AJ, Muriel-Sánchez JM, Márquez-Reina S, Goméz-Carrión A, Coheña-Jiménez M
Adv Skin Wound Care 2024 Jun 1;37(6):1-8. doi: 10.1097/ASW.0000000000000148. PMID: 38767428
Usefulness of Intraoperative Arthrography for Postaxial Polysyndactyly of the Foot.
Sakai Y, Kawamura D, Endo T, Iwasaki N
J Pediatr Orthop 2023 Mar 1;43(3):e244-e248. Epub 2022 Dec 8 doi: 10.1097/BPO.0000000000002323. PMID: 36476945
Reconstruction of polysyndactyly of the fused fifth toe with the fourth toe.
Du Z, Cui Y, Jiang H, Han D
J Pediatr Orthop B 2023 Jan 1;32(1):34-38. doi: 10.1097/BPB.0000000000001020. PMID: 36445381
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
Aesthetic and Anatomic Reconstruction of Polysyndactyly of the Fifth Toe Fused With the Fourth Toe.
Chen W, Chen L, Huang W, Tian X
Ann Plast Surg 2021 Mar 1;86(3):323-328. doi: 10.1097/SAP.0000000000002437. PMID: 32568755

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