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Fibular duplication

MedGen UID:
478372
Concept ID:
C3276742
Finding
Synonym: Duplicated calf bone
 
HPO: HP:0010503

Definition

Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFibular duplication

Conditions with this feature

Laurin-Sandrow syndrome
MedGen UID:
340697
Concept ID:
C1851100
Disease or Syndrome
Laurin-Sandrow syndrome (LSS) is an autosomal dominant disorder characterized by polysyndactyly of hands and feet, mirror image duplication of feet, and nasal defects (hypoplastic alae nasi, short columella), in connection with absent patella and duplicated fibula (summary by Lohan et al., 2014).
Tibia, hypoplasia or aplasia of, with polydactyly
MedGen UID:
348786
Concept ID:
C1861098
Disease or Syndrome
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.

Professional guidelines

PubMed

Sirkin M, Sanders R, DiPasquale T, Herscovici D Jr
J Orthop Trauma 2004 Sep;18(8 Suppl):S32-8. doi: 10.1097/00005131-200409001-00005. PMID: 15472563
Jackson JL, O'Malley PG, Kroenke K
Ann Intern Med 2003 Oct 7;139(7):575-88. doi: 10.7326/0003-4819-139-7-200310070-00010. PMID: 14530229
Sirkin M, Sanders R, DiPasquale T, Herscovici D Jr
J Orthop Trauma 1999 Feb;13(2):78-84. doi: 10.1097/00005131-199902000-00002. PMID: 10052780

Recent clinical studies

Diagnosis

Buzea C, Boulanger N
Clin Dysmorphol 2022 Jul 1;31(3):109-112. Epub 2022 Mar 7 doi: 10.1097/MCD.0000000000000420. PMID: 35256564
Chawathe VS, Gaur AK, Athani BD, Gupta S
J Pediatr Orthop B 2017 Jul;26(4):358-361. doi: 10.1097/BPB.0000000000000396. PMID: 27782934
Hunter AG
Am J Med Genet A 2011 Apr;155A(4):792-804. Epub 2011 Mar 17 doi: 10.1002/ajmg.a.33910. PMID: 21416595

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