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Fragmentation of the epiphyses of the hallux

MedGen UID:
869614
•Concept ID:
C4024042
•
Anatomical Abnormality
Synonym: Fragmentation of the end part of the big toe bone
 
HPO: HP:0010117

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFragmentation of the epiphyses of the hallux

Recent clinical studies

Etiology

The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.
Girisha KM, von Elsner L, Neethukrishna K, Muranjan M, Shukla A, Bhavani GS, Nishimura G, Kutsche K, Mortier G
Hum Mutat 2019 Mar;40(3):299-309. Epub 2018 Dec 21 doi: 10.1002/humu.23693. PMID: 30488656

Diagnosis

Thompson and Hamilton type IV Freiberg's disease with involvement of multiple epiphyses of both feet.
Lui TH
BMJ Case Rep 2015 Feb 26;2015 doi: 10.1136/bcr-2014-206909. PMID: 25721826Free PMC Article
Osteochondrosis of the proximal phalanx of the hallux in adolescent footballers.
Lakshmana Das B, Zenios M, Prem H
J Pediatr Orthop B 2010 Jul;19(4):379-81. doi: 10.1097/bpb.0b013e3283378ec9. PMID: 20549853

Therapy

Thompson and Hamilton type IV Freiberg's disease with involvement of multiple epiphyses of both feet.
Lui TH
BMJ Case Rep 2015 Feb 26;2015 doi: 10.1136/bcr-2014-206909. PMID: 25721826Free PMC Article

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