Irregular epiphyses of the metacarpals

MedGen UID:: 870115
•Concept ID:: C4024546
•: Anatomical Abnormality

Synonym:	Irregular end part of the long bone of hand

HPO:	HP:0009190

Definition

Irregular radiographic opacity of the epiphyses of the metacarpals. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVIrregular epiphyses of the metacarpals

Abnormality of limbs
- Abnormality of the upper limb
  - Abnormality of the hand
    - Abnormal hand morphology
      - Abnormal hand epiphysis morphology
        Abnormal metacarpal epiphysis morphology
        Irregular epiphyses of the metacarpals

Conditions with this feature

Chondrodysplasia with joint dislocations, gPAPP type

MedGen UID:: 481387
•Concept ID:: C3279757
•: Disease or Syndrome

The GPAPP-type of chondrodysplasia with joint dislocations is an autosomal recessive disorder characterized by short stature, chondrodysplasia with brachydactyly, congenital joint dislocations, cleft palate, and facial dysmorphism (Vissers et al., 2011).

See: Condition Record

Chondrodysplasia with joint dislocations, gPAPP type

Recent clinical studies

Etiology

PAPSS2 mutations cause autosomal recessive brachyolmia.

Miyake N, Elcioglu NH, Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho TJ, Kim OH, Hasegawa T, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S
J Med Genet 2012 Aug;49(8):533-8. Epub 2012 Jul 11 doi: 10.1136/jmedgenet-2012-101039. PMID: 22791835

Epiphyseal chondroblastoma of bone. Long-term effects on skeletal growth and articular function in 15 cases treated surgically.

Caterini R, Manili M, Spinelli M, Santori FS, Ippolito E
Arch Orthop Trauma Surg 1992;111(6):327-32. doi: 10.1007/BF00420060. PMID: 1449941

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Diagnosis

Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations.

Singh S, Jacob P, Patil SJ, Muranjan M, Shah H, Girisha KM, Bhavani GS
Am J Med Genet A 2024 Mar;194(3):e63422. Epub 2023 Oct 24 doi: 10.1002/ajmg.a.63422. PMID: 37876363

A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients.

Kim OH, Cho TJ, Song HR, Chung CY, Miyagawa S, Nishimura G, Superti-Furga A, Unger S
Skeletal Radiol 2009 Aug;38(8):803-11. Epub 2009 Mar 11 doi: 10.1007/s00256-009-0671-4. PMID: 19277648

Periostitis in hypertrophic osteoarthropathy: relationship to disease duration.

Pineda CJ, Martinez-Lavin M, Goobar JE, Sartoris DJ, Clopton P, Resnick D
AJR Am J Roentgenol 1987 Apr;148(4):773-8. doi: 10.2214/ajr.148.4.773. PMID: 3493663

See all (3)