Enlarged epiphysis of the distal phalanx of the thumb

MedGen UID:: 867050
•Concept ID:: C4021408
•: Anatomical Abnormality

Synonyms:	Enlarged end part of thumb outermost long bone; Large terminal thumb phalanx epiphysis

HPO:	HP:0009678

Definition

Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVEnlarged epiphysis of the distal phalanx of the thumb

Abnormal digit morphology
- Abnormal finger morphology
  - Abnormal finger phalanx morphology
    - Abnormal distal phalanx morphology of finger
      - Abnormality of the epiphyses of the distal phalanx of finger
        Enlarged epiphyses of the distal phalanges of the hand
        Enlarged epiphysis of the distal phalanx of the thumb

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

See all (1)

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

See all (2)

Clinical prediction guides

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

See all (1)

MedGen

National Center for Biotechnology Information

Send to:

Enlarged epiphysis of the distal phalanx of the thumb

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

Recent activity