| H00872 | |
| H number | H00872 |
| Name | Trismus-pseudocamptodactyly syndrome; Hecht-Beals syndrome; Dutch-Kentucky syndrome |
| Description | 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). |
| Category | Congenital malformation |
| Network | - |
| Gene | MYH8 [HSA:4626] [KO:K24220] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD26.4Y ICD-10: Q68.8 MeSH: C535857 OMIM: 158300 |
| Reference | PMID:17041932 AUTHORS Toydemir RM, Chen H, Proud VK, Martin R, van Bokhoven H, Hamel BC, Tuerlings JH, Stratakis CA, Jorde LB, Bamshad MJ TITLE Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. JOURNAL Am J Med Genet A 140:2387-93 (2006) DOI:10.1002/ajmg.a.31495 PMID:15888111 AUTHORS Carlos R, Contreras E, Cabrera J TITLE Trismus-pseudocamptodactyly syndrome (Hecht-Beals' syndrome): case report and literature review. JOURNAL Oral Dis 11:186-9 (2005) DOI:10.1111/j.1601-0825.2005.01005.x |