Absent epiphysis of the distal phalanx of the thumb

MedGen UID:: 869812
•Concept ID:: C4024242
•: Anatomical Abnormality

Synonym:	Absent end part of thumb outermost long bone

HPO:	HP:0009675

Definition

Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbsent 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
        Absent epiphyses of the distal phalanges of the hand
        Absent 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

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)

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Absent epiphysis of the distal phalanx of the thumb

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

Recent activity