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Macrodactyly of finger

MedGen UID:
510642
•Concept ID:
C0158763
•
Congenital Abnormality
Synonyms: Macrodactylia of fingers; Macrodactyly of fingers; Macrodactyly of hands
SNOMED CT: Macrodactylia of fingers (69381005); Macrodactyly of fingers (69381005)
 
HPO: HP:0100746

Definition

A type of Macrodactyly affecting one or several fingers. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMacrodactyly of finger

Professional guidelines

PubMed

Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association.
Gazzin A, Leoni C, Viscogliosi G, Borgini F, Perri L, Iacoviello M, Piglionica M, De Pellegrin M, Ferrero GB, Bartuli A, Zampino G, Buonuomo PS, Resta N, Mussa A; Italian Macrodactyly and PROS Association
Genes (Basel) 2023 Nov 27;14(12) doi: 10.3390/genes14122134. PMID: 38136956Free PMC Article
Presentation and treatment of macrodactyly in children.
Cerrato F, Eberlin KR, Waters P, Upton J, Taghinia A, Labow BI
J Hand Surg Am 2013 Nov;38(11):2112-23. Epub 2013 Sep 20 doi: 10.1016/j.jhsa.2013.08.095. PMID: 24060511
Lipofibromatous hamartoma: review of early diagnosis and treatment.
Razzaghi A, Anastakis DJ
Can J Surg 2005 Oct;48(5):394-9. PMID: 16248139Free PMC Article

Recent clinical studies

Diagnosis

Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092).
Biesecker LG, Edwards M, O'Donnell S, Doherty P, MacDougall T, Tith K, Kazakin J, Schwartz B
Cold Spring Harb Mol Case Stud 2020 Feb;6(1) Epub 2020 Feb 3 doi: 10.1101/mcs.a004549. PMID: 32014856Free PMC Article

Therapy

Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092).
Biesecker LG, Edwards M, O'Donnell S, Doherty P, MacDougall T, Tith K, Kazakin J, Schwartz B
Cold Spring Harb Mol Case Stud 2020 Feb;6(1) Epub 2020 Feb 3 doi: 10.1101/mcs.a004549. PMID: 32014856Free PMC Article

Supplemental Content

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    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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