Enlarged thumb epiphysis

MedGen UID:: 867048
•Concept ID:: C4021406
•: Anatomical Abnormality

Synonyms:	Enlarged end part of thumb long bone; Enlarged epiphyses of the thumb

HPO:	HP:0009689

Definition

Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVEnlarged thumb epiphysis

Abnormal skeletal morphology
- Abnormal appendicular skeleton morphology
  - Abnormal long bone morphology
    - Abnormal epiphysis morphology
      - Enlarged epiphyses
        Enlarged epiphyses of the phalanges of the hand
        Enlarged thumb epiphysis

Recent clinical studies

Etiology

Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations.

Faivre L, Cormier-Daire V, Eliott AM, Field F, Munnich A, Maroteaux P, Le Merrer M, Lachman R
Am J Med Genet A 2004 Jan 1;124A(1):48-53. doi: 10.1002/ajmg.a.20440. PMID: 14679586

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Diagnosis

Analysis of Causes for Congenital Ulnar Deviated Thumbs at the Distal Phalanx Level in 157 Thumbs.

Tian X, Chan P, Li A, Xiao J, Chen W, Chim H
J Hand Surg Am 2019 Oct;44(10):860-867. Epub 2019 Jun 17 doi: 10.1016/j.jhsa.2019.04.013. PMID: 31221518

Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations.

Faivre L, Cormier-Daire V, Eliott AM, Field F, Munnich A, Maroteaux P, Le Merrer M, Lachman R
Am J Med Genet A 2004 Jan 1;124A(1):48-53. doi: 10.1002/ajmg.a.20440. PMID: 14679586

Desbuquois syndrome: clinical, radiographic, and morphologic characterization.

Shohat M, Lachman R, Gruber HE, Hsia YE, Golbus MS, Witt DR, Bodell A, Bryke CR, Hogge WA, Rimoin DL
Am J Med Genet 1994 Aug 1;52(1):9-18. doi: 10.1002/ajmg.1320520104. PMID: 7977470

See all (3)