U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Polydactyly of a triphalangeal thumb(PPD2)

MedGen UID:
357423
Concept ID:
C1868114
Congenital Abnormality
Synonyms: POLYDACTYLY OF TRIPHALANGEAL THUMB; Polydactyly, preaxial II; TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME
SNOMED CT: Polydactyly of triphalangeal thumb (715710001)
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.
 
Gene (location): ZRS (7q36.3)
 
Monarch Initiative: MONDO:0008270
OMIM®: 174500
Orphanet: ORPHA93336

Definition

Preaxial polydactyly II (PPD2) is a limb malformation in which duplication, full or partial, of the first digital ray of hands or feet results in extra digits. Triphalangeal thumb is characterized by the presence of 3 phalanges within the thumb. The extra middle phalanx may be fully formed, trapezoidal, or a small triangular 'delta' phalanx; the thumb may be opposable or nonopposable. Preaxial polydactyly and triphalangeal thumb may cosegregate, or each occur in isolation, within families with mutation in the zone of polarizing activity (ZPA) regulatory sequence (ZRS), a regulatory element for the SHH gene (600725) that is contained within intron 5 of the LMBR1 gene (Heutink et al., 1994; Furniss et al., 2008; VanderMeer et al., 2014). [from OMIM]

Clinical features

From HPO
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".
Postaxial hand polydactyly
MedGen UID:
609221
Concept ID:
C0431904
Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Preaxial hand polydactyly
MedGen UID:
237235
Concept ID:
C1395852
Congenital Abnormality
Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.
Duplication of phalanx of hallux
MedGen UID:
395424
Concept ID:
C1860164
Congenital Abnormality
Partial or complete duplication of one or more phalanx of big toe.
Postaxial foot polydactyly
MedGen UID:
384489
Concept ID:
C2112129
Finding
Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.
Preaxial foot polydactyly
MedGen UID:
389171
Concept ID:
C2112942
Finding
Duplication of all or part of the first ray.
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.
Complete duplication of distal phalanx of the thumb
MedGen UID:
867069
Concept ID:
C4021427
Anatomical Abnormality
Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side.
Opposable triphalangeal thumb
MedGen UID:
870668
Concept ID:
C4025122
Anatomical Abnormality
A form of triphalangeal thumb that can be placed opposite the fingers of the same hand.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPolydactyly of a triphalangeal thumb
Follow this link to review classifications for Polydactyly of a triphalangeal thumb in Orphanet.

Recent clinical studies

Etiology

Shin YH, Yoon JO, Kim SS, Joo HS, Al-Dhafer BAA, Kim JK
J Plast Reconstr Aesthet Surg 2022 Aug;75(8):2658-2663. Epub 2022 Apr 22 doi: 10.1016/j.bjps.2022.04.015. PMID: 35570116
Nguyen JL, Ho CA
JBJS Rev 2022 Mar 1;10(3) doi: 10.2106/JBJS.RVW.21.00147. PMID: 35230999
Bae DS, Canizares MF, Miller PE, Roberts S, Vuillermin C, Wall LB, Waters PM, Goldfarb CA
J Pediatr Orthop 2018 Jan;38(1):69-74. doi: 10.1097/BPO.0000000000000732. PMID: 26840275
Zuidam JM, Selles RW, de Kraker M, Hovius SE
J Hand Surg Eur Vol 2016 Mar;41(3):253-7. Epub 2015 Mar 20 doi: 10.1177/1753193415576459. PMID: 25794887
König R, Schick U, Fuchs S
Eur J Pediatr 1990 Dec;150(2):100-3. doi: 10.1007/BF02072048. PMID: 2279502

Diagnosis

Swed S, Nashwan AJ, Saleh HH, Chawa Y, Baria A, Etr A
Medicine (Baltimore) 2022 Oct 21;101(42):e31237. doi: 10.1097/MD.0000000000031237. PMID: 36281136Free PMC Article
Xu J, Wu J, Teng X, Cai L, Yuan H, Chen X, Hu M, Wang X, Jiang N, Chen H
Am J Med Genet A 2020 Sep;182(9):2117-2123. Epub 2020 Jul 14 doi: 10.1002/ajmg.a.61757. PMID: 32662247
Calcia A, Gai G, Di Gregorio E, Talarico F, Naretto VG, Migone N, Pepe E, Grosso E, Brusco A
Am J Med Genet A 2013 Oct;161A(10):2656-62. Epub 2013 Aug 16 doi: 10.1002/ajmg.a.36146. PMID: 24038848
Dai L, Guo H, Meng H, Zhang K, Hu H, Yao H, Bai Y
Eur J Pediatr 2013 Nov;172(11):1467-73. Epub 2013 Jun 22 doi: 10.1007/s00431-013-2071-y. PMID: 23793141
Zuidam JM, Selles RW, Ananta M, Runia J, Hovius SE
J Hand Surg Am 2008 Mar;33(3):373-7. doi: 10.1016/j.jhsa.2007.12.012. PMID: 18343293

Therapy

Bae DS, Canizares MF, Miller PE, Roberts S, Vuillermin C, Wall LB, Waters PM, Goldfarb CA
J Pediatr Orthop 2018 Jan;38(1):69-74. doi: 10.1097/BPO.0000000000000732. PMID: 26840275
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
Zguricas J, Dijkstra PF, Gelsema ES, Snijders PJ, Wüstefeld HP, Venema HW, Hovius SE, Lindhout D
J Med Genet 1997 Jan;34(1):55-62. doi: 10.1136/jmg.34.1.55. PMID: 9032651Free PMC Article

Prognosis

Potuijt JWP, Galjaard RH, van der Spek PJ, van Nieuwenhoven CA, Ahituv N, Oberg KC, Hovius SER
J Hand Surg Eur Vol 2019 Jan;44(1):59-68. Epub 2018 Oct 14 doi: 10.1177/1753193418803521. PMID: 30318985Free PMC Article
Wu PF, Guo S, Fan XF, Fan LL, Jin JY, Tang JY, Xiang R
Cytogenet Genome Res 2016;149(3):171-175. Epub 2016 Sep 3 doi: 10.1159/000448820. PMID: 27592358
Laurell T, Vandermeer JE, Wenger AM, Grigelioniene G, Nordenskjöld A, Arner M, Ekblom AG, Bejerano G, Ahituv N, Nordgren A
Hum Mutat 2012 Jul;33(7):1063-6. Epub 2012 May 11 doi: 10.1002/humu.22097. PMID: 22495965Free PMC Article

Clinical prediction guides

Shin YH, Yoon JO, Kim SS, Joo HS, Al-Dhafer BAA, Kim JK
J Plast Reconstr Aesthet Surg 2022 Aug;75(8):2658-2663. Epub 2022 Apr 22 doi: 10.1016/j.bjps.2022.04.015. PMID: 35570116
Kim JK, Al-Dhafer BAA, Shin YH, Joo HS
J Hand Surg Eur Vol 2021 May;46(4):346-351. Epub 2021 Jan 10 doi: 10.1177/1753193420981541. PMID: 33423580
Potuijt JWP, Galjaard RH, van der Spek PJ, van Nieuwenhoven CA, Ahituv N, Oberg KC, Hovius SER
J Hand Surg Eur Vol 2019 Jan;44(1):59-68. Epub 2018 Oct 14 doi: 10.1177/1753193418803521. PMID: 30318985Free PMC Article
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
Heutink P, Zguricas J, van Oosterhout L, Breedveld GJ, Testers L, Sandkuijl LA, Snijders PJ, Weissenbach J, Lindhout D, Hovius SE
Nat Genet 1994 Mar;6(3):287-92. doi: 10.1038/ng0394-287. PMID: 8012392

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...