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Polysyndactyly 4(PPD4)

MedGen UID:
357420
Concept ID:
C1868111
Congenital Abnormality
Synonyms: Polysyndactyly uncomplicated; Preaxial polydactyly 4; Preaxial Polydactyly Type IV
Modes of inheritance:
 
GLI3 (7p14.1)
 
Monarch Initiative: MONDO:0008272
OMIM®: 174700
Orphanet: ORPHA93338

Definition

Although both preaxial polydactyly and syndactyly are cardinal features of this malformation, it is classified as a form of polydactyly because syndactyly does not occur in the absence of polydactyly (McClintic, 1935), the opposite not being true. On the other hand, polysyndactyly is here classified as a type of syndactyly because polydactyly (of the third or fourth fingers and fifth toes) does not occur in the absence of syndactyly. The thumb shows only the mildest degree of duplication, and syndactyly of various degrees affects fingers 3 and 4. The foot malformation is more constant and consists of duplication of part or all of the first or second toes and syndactyly affects all of the toes, especially the second and third. [from OMIM]

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPolysyndactyly 4

Professional guidelines

PubMed

Harada A, Miyashita S, Nagai R, Makino S, Murotsuki J
Congenit Anom (Kyoto) 2019 Jul;59(4):132-141. Epub 2018 Sep 5 doi: 10.1111/cga.12308. PMID: 30132994
Biamino E, Canale A, Lacilla M, Marinosci A, Dagna F, Genitori L, Peretta P, Silengo M, Albera R, Ferrero GB
Int J Pediatr Otorhinolaryngol 2016 Jun;85:95-8. Epub 2016 Apr 11 doi: 10.1016/j.ijporl.2016.03.038. PMID: 27240504
Branch LG, Kesty K, Krebs E, Wright L, Leger S, David LR
J Craniofac Surg 2015 Jan;26(1):147-50. doi: 10.1097/SCS.0000000000001401. PMID: 25569393

Recent clinical studies

Etiology

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
Barros M, Gorgal G, Machado AP, Ramalho C, Matias A, Montenegro N
Fetal Diagn Ther 2014;35(1):51-6. Epub 2013 Nov 14 doi: 10.1159/000354616. PMID: 24247024
Kotwal PP, Farooque M
J Bone Joint Surg Br 1998 Jul;80(4):651-3. doi: 10.1302/0301-620x.80b4.8489. PMID: 9699830
Askins G, Ger E
J Pediatr Orthop 1988 Jul-Aug;8(4):461-6. doi: 10.1097/01241398-198807000-00016. PMID: 2839541
Bavinck JN, Weaver DD
Am J Med Genet 1986 Apr;23(4):903-18. doi: 10.1002/ajmg.1320230405. PMID: 3008556

Diagnosis

Holmes LB, Nasri HZ
Am J Med Genet A 2022 Nov;188(11):3236-3241. Epub 2022 Sep 8 doi: 10.1002/ajmg.a.62941. PMID: 36073773
Buckwalter V JA, Shah AS
Hand (N Y) 2016 Dec;11(4):389-395. Epub 2016 Oct 10 doi: 10.1177/1558944716647355. PMID: 28149203Free PMC Article
Lee HS, Lee WC
Foot Ankle Clin 2011 Dec;16(4):659-78. doi: 10.1016/j.fcl.2011.08.011. PMID: 22118236
Gore AI, Spencer JP
Am Fam Physician 2004 Feb 15;69(4):865-72. PMID: 14989573
Chattopadhyay A, Kher AS, Udwadia AD, Sharma SV, Bharucha BA, Nicholson AD
J Postgrad Med 1993 Oct-Dec;39(4):228-30. PMID: 7996504

Therapy

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
Mantoo MR, Priyadarshi M, Verma A, Thukral A
BMJ Case Rep 2019 Apr 14;12(4) doi: 10.1136/bcr-2018-228588. PMID: 30988108Free PMC Article
Cobb AR, Vourvachis M, Ahmed J, Wyatt M, Dunaway D, Hayward R
J Craniomaxillofac Surg 2015 Oct;43(8):1511-5. Epub 2015 Jul 20 doi: 10.1016/j.jcms.2015.07.005. PMID: 26293186
Nahabedian MY
Plast Reconstr Surg 2011 Apr;127(4):91e-102e. doi: 10.1097/PRS.0b013e31820a7fa7. PMID: 21460647
Taylor HO, Gellis SE, Schmidt BA, Upton J, Rogers GF
Ann Plast Surg 2008 Oct;61(4):472-6. doi: 10.1097/SAP.0b013e31816d8236. PMID: 18812724

Prognosis

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
Dinçer T, Gümüş E, Toraman B, Er İ, Yildiz G, Yüksel Z, Kalay E
Am J Med Genet A 2021 Jun;185(6):1691-1699. Epub 2021 Mar 13 doi: 10.1002/ajmg.a.62154. PMID: 33713555
Smith GD
Br J Hosp Med (Lond) 2012 Apr;73(4):203-9. doi: 10.12968/hmed.2012.73.4.203. PMID: 22585196
Kotwal PP, Farooque M
J Bone Joint Surg Br 1998 Jul;80(4):651-3. doi: 10.1302/0301-620x.80b4.8489. PMID: 9699830
Eaton CJ, Lister GD
Hand Clin 1990 Nov;6(4):555-75. PMID: 2176654

Clinical prediction guides

Fangxing A, Gongchi L, Zhiwei L, Hanling L, Haiding Z, Yuxiong W, Jianghai C
J Plast Reconstr Aesthet Surg 2023 Sep;84:115-120. Epub 2023 May 22 doi: 10.1016/j.bjps.2023.05.043. PMID: 37329744
Premalatha, Kannan VP; Madhu
J Indian Soc Pedod Prev Dent 2010 Oct-Dec;28(4):322-5. doi: 10.4103/0970-4388.76169. PMID: 21273726
Gore AI, Spencer JP
Am Fam Physician 2004 Feb 15;69(4):865-72. PMID: 14989573
Haaf T, Hofmann R, Schmid M
Am J Med Genet 1991 Sep 15;40(4):444-6. doi: 10.1002/ajmg.1320400413. PMID: 1746609
Bavinck JN, Weaver DD
Am J Med Genet 1986 Apr;23(4):903-18. doi: 10.1002/ajmg.1320230405. PMID: 3008556

Recent systematic reviews

Meyers A, Bassiri Gharb B, Rampazzo A
Plast Reconstr Surg 2023 Jun 1;151(6):1256-1273. Epub 2022 Dec 26 doi: 10.1097/PRS.0000000000010116. PMID: 36728793
Homans JF, Tromp IN, Colo D, Schlösser TPC, Kruyt MC, Deeney VFX, Crowley TB, McDonald-McGinn DM, Castelein RM
Am J Med Genet A 2018 Oct;176(10):2104-2120. Epub 2017 Nov 21 doi: 10.1002/ajmg.a.38545. PMID: 29159873
Claro F Jr, Sarian LO, Pinto-Neto AM
Ann Surg Oncol 2015 Aug;22(8):2540-50. Epub 2015 Jan 9 doi: 10.1245/s10434-014-4328-8. PMID: 25572679

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