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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

Prenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods.
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
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
Deformational plagiocephaly and craniosynostosis: trends in diagnosis and treatment after the "back to sleep" campaign.
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

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
Nectinopathies: an emerging group of ectodermal dysplasia syndromes.
Brancati F, Agolini E, Fortugno P
G Ital Dermatol Venereol 2013 Feb;148(1):59-64. PMID: 23407077
Familial Poland anomaly revisited.
Baban A, Torre M, Costanzo S, Gimelli S, Bianca S, Divizia MT, Sénès FM, Garavelli L, Rivieri F, Lerone M, Valle M, Ravazzolo R, Calevo MG
Am J Med Genet A 2012 Jan;158A(1):140-9. Epub 2011 Nov 22 doi: 10.1002/ajmg.a.34370. PMID: 22110015
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
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

Hypothesis: Symbrachydactyly.
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
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
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

Long-term Management of a Patient with Apert Syndrome.
Horiuchi S, Sato H, Iwasa A, Ichihara A, Tenshin H, Watanabe K, Hiasa M, Hashimoto I, Tanaka E
J Contemp Dent Pract 2021 Oct 1;22(10):1184-1190. PMID: 35197388
Trends in congenital anomalies in Europe from 1980 to 2012.
Morris JK, Springett AL, Greenlees R, Loane M, Addor MC, Arriola L, Barisic I, Bergman JEH, Csaky-Szunyogh M, Dias C, Draper ES, Garne E, Gatt M, Khoshnood B, Klungsoyr K, Lynch C, McDonnell R, Nelen V, Neville AJ, O'Mahony M, Pierini A, Queisser-Luft A, Randrianaivo H, Rankin J, Rissmann A, Kurinczuk J, Tucker D, Verellen-Dumoulin C, Wellesley D, Dolk H
PLoS One 2018;13(4):e0194986. Epub 2018 Apr 5 doi: 10.1371/journal.pone.0194986. PMID: 29621304Free PMC Article
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
Breast deformities and mastopexy.
Nahabedian MY
Plast Reconstr Surg 2011 Apr;127(4):91e-102e. doi: 10.1097/PRS.0b013e31820a7fa7. PMID: 21460647
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

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
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
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

Clinical and genetic approach in the characterization of newborns with anorectal malformation.
Schierz IAM, Piro E, Giuffrè M, Pinello G, Angelini A, Antona V, Cimador M, Corsello G
J Matern Fetal Neonatal Med 2022 Dec;35(23):4513-4520. Epub 2020 Dec 1 doi: 10.1080/14767058.2020.1854213. PMID: 36062518
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
The newborn foot.
Gore AI, Spencer JP
Am Fam Physician 2004 Feb 15;69(4):865-72. PMID: 14989573
Hydrocephalus and craniosynostosis.
Cinalli G, Sainte-Rose C, Kollar EM, Zerah M, Brunelle F, Chumas P, Arnaud E, Marchac D, Pierre-Kahn A, Renier D
J Neurosurg 1998 Feb;88(2):209-14. doi: 10.3171/jns.1998.88.2.0209. PMID: 9452225
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

Supplemental Content

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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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