| H00903 | |
| H number | H00903 |
| 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 |
| Network | - |
| Gene | PITX1 [HSA:5307] [KO:K09356] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LB98.00 ICD-10: Q66.0 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 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 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 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 |