KEGG   DISEASE: Syndromic craniosynostosesHelp
Entry
H00458                      Disease                                

Name
Syndromic craniosynostoses
  Subgroup
Pfeiffer syndrome [DS:H01756]
Apert syndrome [DS:H01755]
Crouzon syndrome [DS:H01754]
Jackson-Weiss syndrome [DS:H01988]
Beare-Stevenson syndrome [DS:H01989]
Muenke syndrome [DS:H01990]
Saethre-Chotzen syndrome [DS:H01991]
Antley-Bixler syndrome [DS:H01753]
Carpenter syndrome [DS:H01888]
Craniofrontonasal syndrome [DS:H01992]
Noonan syndrome [DS:H01738]
Baller-Gerold syndrome [DS:H01993]
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
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00458  Syndromic craniosynostoses
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H00458  Syndromic craniosynostoses
BRITE hierarchy
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]
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
  Authors
Johnson D, Wilkie AO
  Title
Craniosynostosis.
  Journal
Eur J Hum Genet 19:369-76 (2011)
DOI:10.1038/ejhg.2010.235
Reference
  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
Reference
  Authors
Fitzpatrick DR
  Title
Filling in the gaps in cranial suture biology.
  Journal
Nat Genet 45:231-2 (2013)
DOI:10.1038/ng.2557
Reference
  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

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