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Dystelephalangy

MedGen UID:
343690
Concept ID:
C1851955
Disease or Syndrome
Synonyms: Congenital bilateral metadiaphyseal acrodysplasia of the little finger; Kirner deformity
 
Monarch Initiative: MONDO:0007491
OMIM®: 128000

Definition

Kirner deformity, or dystelephalangy, is a rare malformation of the fifth finger that consists of radial bowing of the terminal phalanx, with the tip of the finger pointing toward the thenar eminence. The deformity is usually bilateral (summary by Temtamy and McKusick, 1978). [from OMIM]

Clinical features

From HPO
Curved distal phalanx of the 5th finger
MedGen UID:
867309
Concept ID:
C4021672
Anatomical Abnormality
Curved appearance of the distal phalanx of the 5th (little) finger.

Recent clinical studies

Etiology

Fairbank SM, Rozen WM, Coombs CJ
J Hand Surg Eur Vol 2015 Jul;40(6):633-7. Epub 2014 Sep 30 doi: 10.1177/1753193414551911. PMID: 25274771

Diagnosis

Tianxiao M, Wang D, Song L
Medicine (Baltimore) 2020 Sep 25;99(39):e22294. doi: 10.1097/MD.0000000000022294. PMID: 32991433Free PMC Article
Viswanathan V, Mhapankar AV
Indian Pediatr 2018 Jul 15;55(7):625. PMID: 30129560
Adeb M, Hayashi D, Kumar Y
BMC Musculoskelet Disord 2016 Oct 21;17(1):440. doi: 10.1186/s12891-016-1300-8. PMID: 27769216Free PMC Article
Fairbank SM, Rozen WM, Coombs CJ
J Hand Surg Eur Vol 2015 Jul;40(6):633-7. Epub 2014 Sep 30 doi: 10.1177/1753193414551911. PMID: 25274771

Clinical prediction guides

Fairbank SM, Rozen WM, Coombs CJ
J Hand Surg Eur Vol 2015 Jul;40(6):633-7. Epub 2014 Sep 30 doi: 10.1177/1753193414551911. PMID: 25274771

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