| H00872 | |
| H番号 | H00872 |
| 名称 | 開口不全・偽屈曲指症候群; Hecht-Beals 症候群; Dutch-Kentucky 症候群 |
| 概要 | Trismus-pseudocamptodactyly syndrome is a rare autosomal dominant distal arthrogryposis characterized by the inability to open the mouth (trismus) causing difficulty with mastication, and an unusual camptodactyly of the fingers that is apparent only while attempting dorsiflexion of the wrist (pseudocamptodactyly). |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | MYH8 [HSA:4626] [KO:K24220] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD26.4Y ICD-10: Q68.8 MeSH: C535857 OMIM: 158300 |
| 文献 | PMID:17041932 著者 Toydemir RM, Chen H, Proud VK, Martin R, van Bokhoven H, Hamel BC, Tuerlings JH, Stratakis CA, Jorde LB, Bamshad MJ タイトル Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. 雑誌 Am J Med Genet A 140:2387-93 (2006) DOI:10.1002/ajmg.a.31495 PMID:15888111 著者 Carlos R, Contreras E, Cabrera J タイトル Trismus-pseudocamptodactyly syndrome (Hecht-Beals' syndrome): case report and literature review. 雑誌 Oral Dis 11:186-9 (2005) DOI:10.1111/j.1601-0825.2005.01005.x |