| H00903 | |
| H番号 | H00903 |
| 名称 | 先天内反足 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | PITX1 [HSA:5307] [KO:K09356] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LB98.00 ICD-10: Q66.0 MeSH: D003025 OMIM: 119800 |
| 文献 | PMID:21775501 著者 Alvarado DM, McCall K, Aferol H, Silva MJ, Garbow JR, Spees WM, Patel T, Siegel M, Dobbs MB, Gurnett CA タイトル Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice. 雑誌 Hum Mol Genet 20:3943-52 (2011) DOI:10.1093/hmg/ddr313 PMID:21817922 著者 Dobbs MB, Gurnett CA タイトル Genetics of clubfoot. 雑誌 J Pediatr Orthop B 21:7-9 (2012) DOI:10.1097/BPB.0b013e328349927c PMID:12151881 著者 Dietz F タイトル The genetics of idiopathic clubfoot. 雑誌 Clin Orthop Relat Res 39-48 (2002) DOI:10.1097/00003086-200208000-00007 PMID:12587918 著者 Miedzybrodzka Z タイトル Congenital talipes equinovarus (clubfoot): a disorder of the foot but not the hand. 雑誌 J Anat 202:37-42 (2003) DOI:10.1046/j.1469-7580.2003.00147.x |