| H00458 | |
| H number | H00458 |
| Name | Syndromic craniosynostoses |
| Description | Craniosynostosis is the premature fusion of the cranial sutures and secondary distortion of skull shape. Syndromic craniosynostosis typically involves cranial sutures plus central nervous system and extracranial skeletal changes. The genes most frequently mutated are FGFRs. |
| Category | Congenital malformation |
| Network | - |
| Gene | (Pfeiffer) FGFR1 [HSA:2260] [KO:K04362] (Apert, Pfeiffer, Crouzon, Jackson-Weiss, Beare-Stevenson, Antley-Bixler) FGFR2 [HSA:2263] [KO:K05093] (Muenke) FGFR3 [HSA:2261] [KO:K05094] (Saethre-Chotzen) TWIST1 [HSA:7291] [KO:K09069] (Antley-Bixler) POR [HSA:5447] [KO:K00327] (Carpenter) RAB23 [HSA:51715] [KO:K06234] (Craniofrontonasal) EFNB1 [HSA:1947] [KO:K05463] (Noonan) KRAS [HSA:3845] [KO:K07827] (Baller-Gerold) RECQL4 [HSA:9401] [KO:K10730] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.G ICD-10: Q87 MeSH: D000168 D003398 D054882 OMIM: 101600 101200 123500 123150 123790 602849 612247 101400 207410 201750 201000 304110 609942 218600 123150 207410 |
| Reference | PMID:21248745 AUTHORS Johnson D, Wilkie AO TITLE Craniosynostosis. JOURNAL Eur J Hum Genet 19:369-76 (2011) DOI:10.1038/ejhg.2010.235 PMID:15828709 AUTHORS Aleck K TITLE Craniosynostosis syndromes in the genomic era. JOURNAL Semin Pediatr Neurol 11:256-61 (2004) DOI:10.1016/j.spen.2004.10.005 PMID:23438589 AUTHORS Fitzpatrick DR TITLE Filling in the gaps in cranial suture biology. JOURNAL Nat Genet 45:231-2 (2013) DOI:10.1038/ng.2557 PMID:26340333 AUTHORS Twigg SR, Forecki J, Goos JA, Richardson IC, Hoogeboom AJ, van den Ouweland AM, Swagemakers SM, Lequin MH, Van Antwerp D, McGowan SJ, Westbury I, Miller KA, Wall SA, van der Spek PJ, Mathijssen IM, Pauws E, Merzdorf CS, Wilkie AO TITLE Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability. JOURNAL Am J Hum Genet 97:378-88 (2015) DOI:10.1016/j.ajhg.2015.07.007 |