| H01207 | |
| H number | H01207 |
| Name | Trigonocephaly |
| Description | Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. It has been reported that mutations in FGFR1 and FREM1 can be associated with trigonocephaly. |
| Category | Congenital malformation |
| Network | - |
| Gene | (TRIGNO1) FGFR1 [HSA:2260] [KO:K04362] (TRIGNO2) FREM1 [HSA:158326] [KO:K23380] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LB70.0Y ICD-10: Q75.0 MeSH: D003398 OMIM: 190440 614485 |
| Reference | PMID:15185114 AUTHORS Shimoji T, Tomiyama N TITLE Mild trigonocephaly and intracranial pressure: report of 56 patients. JOURNAL Childs Nerv Syst 20:749-56 (2004) DOI:10.1007/s00381-004-0970-y PMID:11173846 (FGFR1) AUTHORS Kress W, Petersen B, Collmann H, Grimm T TITLE An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly. JOURNAL Cytogenet Cell Genet 91:138-40 (2000) DOI:10.1159/000056834 PMID:21931569 (FREM1) AUTHORS Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee F, Bertola D, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, van Bokhoven H, Marcelis C, Cunningham ML, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T TITLE Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. JOURNAL PLoS Genet 7:e1002278 (2011) DOI:10.1371/journal.pgen.1002278 |