Cone-shaped epiphysis of the 1st metacarpal

MedGen UID:: 869678
•Concept ID:: C4024106
•: Anatomical Abnormality

Synonym:	Cone-shaped end part of the 1st long bone of hand

HPO:	HP:0010017

Definition

A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCone-shaped epiphysis of the 1st metacarpal

Abnormal digit morphology
- Abnormal finger morphology
  - Abnormal finger phalanx morphology
    - Abnormal proximal phalanx morphology of the hand
      - Abnormality of the epiphyses of the proximal phalanges of the hand
        Cone-shaped epiphyses of the proximal phalanges of the hand
        Cone-shaped epiphysis of the 1st metacarpal

Conditions with this feature

Acrocapitofemoral dysplasia

MedGen UID:: 334681
•Concept ID:: C1843096
•: Disease or Syndrome

Acrocapitofemoral dysplasia (ACFD) is an autosomal recessive skeletal dysplasia characterized by postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails (Ozyavuz Cubuk and Duz, 2021).

See: Condition Record

Acrocapitofemoral dysplasia

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Cone-shaped epiphysis of the 1st metacarpal

Definition

Term Hierarchy

Conditions with this feature

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