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Triphalangeal thumb with polysyndactyly syndrome(TPTPS)

MedGen UID:
Concept ID:
Disease or Syndrome
SNOMED CT: Triphalangeal thumb and polysyndactyly syndrome (719950001)
Gene (location): LMBR1 (7q36.3)
OMIM®: 190605

Clinical features

From HPO
Finger syndactyly
MedGen UID:
Concept ID:
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:
Concept ID:
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:
Concept ID:
Increased thumb width without increased dorso-ventral dimension.
Postaxial hand polydactyly
MedGen UID:
Concept ID:
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:
Concept ID:
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


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

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

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