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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:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): 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
Preaxial polydactyly
MedGen UID:
87498
•Concept ID:
C0345354
•
Congenital Abnormality
A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.
See: Feature record | Search on this feature
1-5 toe syndactyly
MedGen UID:
866880
•Concept ID:
C4021235
•
Congenital Abnormality
Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot).
See: Feature record | Search on this feature
Duplication of thumb phalanx
MedGen UID:
892306
•Concept ID:
C4021370
•
Anatomical Abnormality
Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
See: Feature record | Search on this feature
3-4 finger cutaneous syndactyly
MedGen UID:
868712
•Concept ID:
C4023115
•
Congenital Abnormality
A soft tissue continuity in the A/P axis between fingers 3 and 4.
See: Feature record | Search on this feature
Dysplastic distal thumb phalanges with a central hole
MedGen UID:
870699
•Concept ID:
C4025153
•
Anatomical Abnormality
See: Feature record | Search on this feature

Term Hierarchy

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

Professional guidelines

PubMed

Surgical treatment in child's congenital toe syndactyly: Risk factor of recurrence, complication and poor clinical outcomes.
Langlais T, Rougereau G, Marty-Diloy T, Bachy M, Barret H, Vialle R, Fitoussi F
Foot Ankle Surg 2022 Jan;28(1):107-113. Epub 2021 Feb 19 doi: 10.1016/j.fas.2021.02.006. PMID: 33642221
Prevention and management of hearing loss in syndromic craniosynostosis: A case series.
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
Congenital hand problems. Terminology, etiology, and management.
Netscher DT
Clin Plast Surg 1998 Oct;25(4):537-52. PMID: 9917973

Recent clinical studies

Etiology

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
Omentum for Mammary Disorders: A 30-Year Systematic Review.
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
Progressive Postnatal Pansynostosis.
Rogers GF, Greene AK, Proctor MR, Mulliken JB, Goobie SM, Stoler JM
Cleft Palate Craniofac J 2015 Nov;52(6):751-7. Epub 2014 Oct 28 doi: 10.1597/14-092. PMID: 25350344
Toe syndactyly revisited.
Marsh DJ, Floyd D
J Plast Reconstr Aesthet Surg 2011 Apr;64(4):535-40. Epub 2010 Aug 14 doi: 10.1016/j.bjps.2010.07.016. PMID: 20708986
Macrodactyly.
Kotwal PP, Farooque M
J Bone Joint Surg Br 1998 Jul;80(4):651-3. doi: 10.1302/0301-620x.80b4.8489. PMID: 9699830

Diagnosis

Presentation and Treatment of Poland Anomaly.
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
Infantile digital fibromatosis.
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
The newborn foot.
Gore AI, Spencer JP
Am Fam Physician 2004 Feb 15;69(4):865-72. PMID: 14989573
Poland's syndrome.
Urschel HC Jr
Chest Surg Clin N Am 2000 May;10(2):393-403, viii. PMID: 10803341
Fraser syndrome.
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

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
Osteomyelitis in limb amputated by amniotic band sequence.
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
Aberrant facial flushing following monobloc fronto-facial distraction.
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
Omentum for Mammary Disorders: A 30-Year Systematic Review.
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
Infantile digital fibromatosis.
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

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
Congenital hand anomalies and reconstruction.
Smith GD
Br J Hosp Med (Lond) 2012 Apr;73(4):203-9. doi: 10.12968/hmed.2012.73.4.203. PMID: 22585196
Toe syndactyly revisited.
Marsh DJ, Floyd D
J Plast Reconstr Aesthet Surg 2011 Apr;64(4):535-40. Epub 2010 Aug 14 doi: 10.1016/j.bjps.2010.07.016. PMID: 20708986
Macrodactyly.
Kotwal PP, Farooque M
J Bone Joint Surg Br 1998 Jul;80(4):651-3. doi: 10.1302/0301-620x.80b4.8489. PMID: 9699830
Syndactyly.
Eaton CJ, Lister GD
Hand Clin 1990 Nov;6(4):555-75. PMID: 2176654

Clinical prediction guides

Toe syndactyly revisited.
Marsh DJ, Floyd D
J Plast Reconstr Aesthet Surg 2011 Apr;64(4):535-40. Epub 2010 Aug 14 doi: 10.1016/j.bjps.2010.07.016. PMID: 20708986
Apert syndrome.
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
The newborn foot.
Gore AI, Spencer JP
Am Fam Physician 2004 Feb 15;69(4):865-72. PMID: 14989573
Opitz trigonocephaly syndrome.
Haaf T, Hofmann R, Schmid M
Am J Med Genet 1991 Sep 15;40(4):444-6. doi: 10.1002/ajmg.1320400413. PMID: 1746609
Cleft hand.
Ogino T
Hand Clin 1990 Nov;6(4):661-71. PMID: 2176655

Recent systematic reviews

A Systematic Review of Vascularized and Nonvascularized Toe Transfer for Reconstruction of Congenital Hand Differences.
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
Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review.
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
Omentum for Mammary Disorders: A 30-Year Systematic Review.
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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    • ClinVar
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      Clinical tests in GTR
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    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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