Enlarged metacarpal epiphyses

MedGen UID:: 355896
•Concept ID:: C1865035
•: Finding

Synonym:	Enlarged end part of long bone of hand

HPO:	HP:0006134

Definition

Abnormally large size of one or more growth plates (epiphyses) of the metacarpal bones (i.e., the tubular bones of the hand between the carpus and the phalanges). [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVEnlarged metacarpal epiphyses

Abnormality of the skeletal system
- Abnormal skeletal morphology
  - Abnormal appendicular skeleton morphology
    - Abnormal long bone morphology
      - Abnormal epiphysis morphology
        Enlarged epiphyses
        Enlarged metacarpal epiphyses

Conditions with this feature

Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness

MedGen UID:: 355893
•Concept ID:: C1865022
•: Disease or Syndrome

See: Condition Record

Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness

Recent clinical studies

Etiology

Orthopaedic aspects of mucopolysaccharidoses.

White KK
Rheumatology (Oxford) 2011 Dec;50 Suppl 5:v26-33. doi: 10.1093/rheumatology/ker393. PMID: 22210667

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)

Diagnosis

Orthopaedic aspects of mucopolysaccharidoses.

White KK
Rheumatology (Oxford) 2011 Dec;50 Suppl 5:v26-33. doi: 10.1093/rheumatology/ker393. PMID: 22210667

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

Epiphyseal hypertrophy of first metacarpal simulating pseudoarthrosis in Fanconi's anemia.

Demirci A, Okten A, Gumele HR
Pediatr Radiol 1992;22(7):547. doi: 10.1007/BF02013012. PMID: 1491922

See all (4)