KEGG   DISEASE: Congenital clubfoot
Entry
H00903                      Disease                                
Name
Congenital clubfoot;
Congenital talipes equinovarus
Description
Congenital clubfoot is an idiopathic deformity of the lower limb that consists of malalignment of the bones and joints of the foot and ankle. It is defined as a fixation of the foot in a hand-like orientation. The calcaneus, navicular and cuboid bones are medially rotated in relation to talus. PITX1 haploinsufficiency accounts for the disease by causing developmental field defect during embryogenesis.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the skeleton
    LB98  Congenital deformities of feet
     H00903  Congenital clubfoot
Gene
PITX1 [HSA:5307] [KO:K09356]
Other DBs
ICD-11: LB98.00
MeSH: D003025
OMIM: 119800
Reference
PMID:21775501
  Authors
Alvarado DM, McCall K, Aferol H, Silva MJ, Garbow JR, Spees WM, Patel T, Siegel M, Dobbs MB, Gurnett CA
  Title
Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice.
  Journal
Hum Mol Genet 20:3943-52 (2011)
DOI:10.1093/hmg/ddr313
Reference
PMID:21817922
  Authors
Dobbs MB, Gurnett CA
  Title
Genetics of clubfoot.
  Journal
J Pediatr Orthop B 21:7-9 (2012)
DOI:10.1097/BPB.0b013e328349927c
Reference
PMID:12151881
  Authors
Dietz F
  Title
The genetics of idiopathic clubfoot.
  Journal
Clin Orthop Relat Res 39-48 (2002)
DOI:10.1097/00003086-200208000-00007
Reference
PMID:12587918
  Authors
Miedzybrodzka Z
  Title
Congenital talipes equinovarus (clubfoot): a disorder of the foot but not the hand.
  Journal
J Anat 202:37-42 (2003)
DOI:10.1046/j.1469-7580.2003.00147.x

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Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (4)   
   PubMed (4)   
All databases (7)   

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