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Polydactyly of an index finger(PPD3)

MedGen UID:
357422
•Concept ID:
C1868113
•
Disease or Syndrome
Synonyms: INDEX FINGER POLYDACTYLY; Polydactyly, preaxial III
SNOMED CT: Polydactyly of index finger (723446006); Preaxial polydactyly type 3 (723446006); PPD3- preaxial polydactyly type 3 (723446006)
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)
 
Monarch Initiative: MONDO:0008271
OMIM®: 174600
Orphanet: ORPHA93337

Definition

A limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been described, unilateral and bilateral. There have been no further descriptions in the literature since 1962. [from SNOMEDCT_US]

Clinical features

From HPO
Triphalangeal thumb
MedGen UID:
66029
•Concept ID:
C0241397
•
Congenital Abnormality
A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.
See: Feature record | Search on this feature
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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPolydactyly of an index finger
Follow this link to review classifications for Polydactyly of an index finger in Orphanet.

Recent clinical studies

Etiology

Prediction of Surgical Outcomes of Radial Polydactyly From the Wassel-Flatt Type and Symmetry of Duplication.
Chen PA, Sun WC, Chen BPR, Lee WC, Kao HK, Yang WE, Chang CH
J Pediatr Orthop 2023 Apr 1;43(4):e305-e309. Epub 2023 Jan 10 doi: 10.1097/BPO.0000000000002349. PMID: 36728384
Congenital Disorders of the Pediatric Thumb.
Nguyen JL, Ho CA
JBJS Rev 2022 Mar 1;10(3) doi: 10.2106/JBJS.RVW.21.00147. PMID: 35230999
Distal Dorsal Dimelia: A Disturbance of Dorsal-Ventral Digit Development.
Habenicht R, Mann M, Guéro S, Ezaki M, Oberg KC
J Hand Surg Am 2019 May;44(5):421.e1-421.e8. Epub 2018 Oct 3 doi: 10.1016/j.jhsa.2018.07.011. PMID: 30292712
Postoperative Growth in Radial Polydactyly: A Clinical Study.
Wang L, Tao X, Gao W, Ding J, Zhou Z, Feng X
J Hand Surg Am 2016 Sep;41(9):e273-8. Epub 2016 Jul 27 doi: 10.1016/j.jhsa.2016.06.012. PMID: 27475961
Thumb size and appearance following reconstruction of radial polydactyly.
Goldfarb CA, Patterson JM, Maender A, Manske PR
J Hand Surg Am 2008 Oct;33(8):1348-53. doi: 10.1016/j.jhsa.2008.03.011. PMID: 18929199

Diagnosis

Congenital Palmar Duplication of the Index Finger: Ventral Polydactyly With Ventral Dimelia.
Shintani K, Hidaka N, Sato M
J Hand Surg Am 2023 Mar;48(3):315.e1-315.e6. Epub 2022 Mar 12 doi: 10.1016/j.jhsa.2022.01.010. PMID: 35292177
Bardet-Biedl syndrome: a case series.
Elawad OAMA, Dafallah MA, Ahmed MMM, Albashir AAD, Abdalla SMA, Yousif HHM, Daw Elbait AAE, Mohammed ME, Ali HIH, Ahmed MMM, Mohammed NFN, Osman FHM, Mohammed MAY, Abu Shama EAE
J Med Case Rep 2022 Apr 29;16(1):169. doi: 10.1186/s13256-022-03396-6. PMID: 35484558Free PMC Article
TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy.
Boschann F, Stuurman KE, de Bruin C, van Slegtenhorst M, van Duyvenvoorde HA, Kant SG, Ehmke N
Am J Med Genet A 2020 Mar;182(3):431-436. Epub 2019 Nov 25 doi: 10.1002/ajmg.a.61419. PMID: 31769200
Distal Dorsal Dimelia: A Disturbance of Dorsal-Ventral Digit Development.
Habenicht R, Mann M, Guéro S, Ezaki M, Oberg KC
J Hand Surg Am 2019 May;44(5):421.e1-421.e8. Epub 2018 Oct 3 doi: 10.1016/j.jhsa.2018.07.011. PMID: 30292712
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

Therapy

Thalidomide and neurotrophism.
Soper JR, Bonar SF, O'Sullivan DJ, McCredie J, Willert HG
Skeletal Radiol 2019 Apr;48(4):517-525. Epub 2018 Oct 19 doi: 10.1007/s00256-018-3086-2. PMID: 30341712Free PMC Article
Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?
Baas M, Potuijt JWP, Hovius SER, Hoogeboom AJM, Galjaard RH, van Nieuwenhoven CA
Am J Med Genet A 2017 Nov;173(11):2898-2905. Epub 2017 Sep 10 doi: 10.1002/ajmg.a.38398. PMID: 28889454Free PMC Article
A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21.
Barboza-Cerda MC, Campos-Acevedo LD, Rangel R, Martínez-de-Villarreal LE, Déctor MA
Am J Med Genet A 2013 Feb;161A(2):237-43. Epub 2013 Jan 10 doi: 10.1002/ajmg.a.35743. PMID: 23307567
Simplicity and treatment of the typical cleft hand.
Upton J
Handchir Mikrochir Plast Chir 2004 Apr-Jun;36(2-3):152-60. doi: 10.1055/s-2004-817903. PMID: 15162314

Prognosis

Prediction of Surgical Outcomes of Radial Polydactyly From the Wassel-Flatt Type and Symmetry of Duplication.
Chen PA, Sun WC, Chen BPR, Lee WC, Kao HK, Yang WE, Chang CH
J Pediatr Orthop 2023 Apr 1;43(4):e305-e309. Epub 2023 Jan 10 doi: 10.1097/BPO.0000000000002349. PMID: 36728384
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
Thumb size and appearance following reconstruction of radial polydactyly.
Goldfarb CA, Patterson JM, Maender A, Manske PR
J Hand Surg Am 2008 Oct;33(8):1348-53. doi: 10.1016/j.jhsa.2008.03.011. PMID: 18929199
Simplicity and treatment of the typical cleft hand.
Upton J
Handchir Mikrochir Plast Chir 2004 Apr-Jun;36(2-3):152-60. doi: 10.1055/s-2004-817903. PMID: 15162314

Clinical prediction guides

Prediction of Surgical Outcomes of Radial Polydactyly From the Wassel-Flatt Type and Symmetry of Duplication.
Chen PA, Sun WC, Chen BPR, Lee WC, Kao HK, Yang WE, Chang CH
J Pediatr Orthop 2023 Apr 1;43(4):e305-e309. Epub 2023 Jan 10 doi: 10.1097/BPO.0000000000002349. PMID: 36728384
Thalidomide and neurotrophism.
Soper JR, Bonar SF, O'Sullivan DJ, McCredie J, Willert HG
Skeletal Radiol 2019 Apr;48(4):517-525. Epub 2018 Oct 19 doi: 10.1007/s00256-018-3086-2. PMID: 30341712Free PMC Article
Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?
Baas M, Potuijt JWP, Hovius SER, Hoogeboom AJM, Galjaard RH, van Nieuwenhoven CA
Am J Med Genet A 2017 Nov;173(11):2898-2905. Epub 2017 Sep 10 doi: 10.1002/ajmg.a.38398. PMID: 28889454Free PMC Article
Thumb size and appearance following reconstruction of radial polydactyly.
Goldfarb CA, Patterson JM, Maender A, Manske PR
J Hand Surg Am 2008 Oct;33(8):1348-53. doi: 10.1016/j.jhsa.2008.03.011. PMID: 18929199
Cleft hand.
Ogino T
Hand Clin 1990 Nov;6(4):661-71. PMID: 2176655

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