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Cone-shaped epiphysis of the proximal phalanx of the 5th finger

MedGen UID:
892845
Concept ID:
C4020784
Anatomical Abnormality
Synonyms: Angel-shaped epiphysis of the proximal phalanx of the 5th finger; Cone-shaped end part of the innermost bone of little finger; Cone-shaped end part of the innermost bone of pinkie finger; Cone-shaped end part of the innermost bone of pinky finger; Cone-shaped epiphysis of the proximal phalanx of the little finger
 
HPO: HP:0009155

Definition

A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCone-shaped epiphysis of the proximal phalanx of the 5th finger

Recent clinical studies

Diagnosis

Mégarbané A, Mehawej C, Mahfoud D, Chouery E, Devriendt K, Hijazi M, Ryu SW, Kim J, McNeill A
Eur J Med Genet 2024 Jun;69:104944. Epub 2024 Apr 26 doi: 10.1016/j.ejmg.2024.104944. PMID: 38679370

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