Absent humeral epiphyseal ossification

MedGen UID:: 867349
•Concept ID:: C4021713
•: Anatomical Abnormality

Synonyms:	Absent maturation of end part of long bone in upper arm; Absent ossification of the humeral epiphyses

HPO:	HP:0003892

Definition

Lack of formation of bone in the epiphysis of the humerus. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbsent humeral epiphyseal ossification

Abnormality of the skeletal system
- Abnormal skeletal morphology
  - Abnormal bone structure
    - Abnormal bone ossification
      - Abnormal enchondral ossification
        Abnormal humeral ossification
        Absent humeral epiphyseal ossification

Recent clinical studies

Etiology

Targeted expression of SHH affects chondrocyte differentiation, growth plate organization, and Sox9 expression.

Tavella S, Biticchi R, Schito A, Minina E, Di Martino D, Pagano A, Vortkamp A, Horton WA, Cancedda R, Garofalo S
J Bone Miner Res 2004 Oct;19(10):1678-88. Epub 2004 Jul 12 doi: 10.1359/JBMR.040706. PMID: 15355563

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Clinical prediction guides

Skeletal abnormalities in the Apert syndrome.

Cohen MM Jr, Kreiborg S
Am J Med Genet 1993 Oct 1;47(5):624-32. doi: 10.1002/ajmg.1320470509. PMID: 8266987

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Absent humeral epiphyseal ossification

Definition

Term Hierarchy

Recent clinical studies

Etiology

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

Recent activity