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Triphalangeal thumb-polysyndactyly syndrome(TPTPS)

MedGen UID:
1830424
Concept ID:
C5779878
Disease or Syndrome
Synonyms: TPT and PSD syndrome; TPT-PS SYNDROME; TPTPS; Triphalangeal thumb with polysyndactyly syndrome
SNOMED CT: Triphalangeal thumb and polysyndactyly syndrome (719950001)
 
Gene (location): LMBR1 (7q36.3)
 
Monarch Initiative: MONDO:0017454
OMIM®: 190605
Orphanet: ORPHA2950

Definition

Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly. [from MONDO]

Clinical features

From HPO
Finger syndactyly
MedGen UID:
65139
Concept ID:
C0221352
Congenital Abnormality
Webbing or fusion of the fingers, 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 in a proximo-distal axis are referred to as "Symphalangism".
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.
Broad thumb
MedGen UID:
140880
Concept ID:
C0426891
Finding
Increased thumb width without increased dorso-ventral dimension.
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).
Polydactyly of a biphalangeal thumb
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.

Recent clinical studies

Diagnosis

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
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
Kantaputra PN, Chalidapong P
Am J Med Genet 2000 Jul 17;93(2):126-31. doi: 10.1002/1096-8628(20000717)93:2<126::aid-ajmg9>3.0.co;2-s. PMID: 10869115

Clinical prediction guides

Potuijt JWP, Baas M, Sukenik-Halevy R, Douben H, Nguyen P, Venter DJ, Gallagher R, Swagemakers SM, Hovius SER, van Nieuwenhoven CA, Galjaard RH, van der Spek PJ, Ahituv N, de Klein A
Genet Med 2018 Nov;20(11):1405-1413. Epub 2018 Mar 15 doi: 10.1038/gim.2018.18. PMID: 29543231
Kantaputra PN
Am J Med Genet 2001 Jan 22;98(3):210-5. doi: 10.1002/1096-8628(20010122)98:3<210::aid-ajmg1085>3.0.co;2-7. PMID: 11169557
Radhakrishna U, Blouin JL, Solanki JV, Dhoriani GM, Antonarakis SE
Am J Med Genet 1996 Dec 11;66(2):209-15. doi: 10.1002/(SICI)1096-8628(19961211)66:2<209::AID-AJMG17>3.0.CO;2-X. PMID: 8958333

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