{"orpha":1531,"name":"Craniosynostosis","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1531/","orphanet_url":"https://www.orpha.net/en/disease/detail/1531","names":{"fr":{"name":"Craniosynostose","definition":"La craniosynostose se définit par la fusion prématurée d'une (ou plusieurs) suture(s) crâniale(s), ce qui conduit à une distorsion secondaire de la forme du crâne et à des déformations crâniennes avec une présentation variable. La craniosynostose peut survenir de manière isolée ou faire partie d'un syndrome."},"de":{"name":"Kraniosynostose"},"es":{"name":"Craneosinostosis","definition":"La craneosinostosis se define como la fusión prematura de una o más suturas craneales que conducen a una distorsión secundaria de la forma del cráneo que resulta en deformidades del cráneo con una presentación variable. La craneosinostosis puede ocurrir de forma aislada o como parte de un síndrome."},"it":{"name":"Craniosinostosi"},"nl":{"name":"Craniosynostose","definition":"Craniosynostose wordt gedefinieerd als de premature vergroeiing van een of meer schedelnaden, wat leidt tot secundaire vervorming van de schedelvorm met een variatie aan schedelmisvormingen tot gevolg. Craniosynostose kan geïsoleerd of als onderdeel van een syndroom voorkomen."},"pt":{"name":"Craniossinostose"},"pl":{"name":"Kraniosynostoza"},"cs":{"name":"Kraniosynostóza"},"uk":{"name":"Краніосиностоз","definition":"Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome."},"zh":{"name":"颅缝早闭"},"tr":{"name":"Kraniyosinostoz"}},"xrefs":[{"source":"ICD-10","code":"Q75.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB70.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"458033798"},{"source":"MONDO","code":"0015469","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15469","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D003398","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0010278","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6209","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10049889","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98038,"name":"Cranial malformation","classifications":[147]},{"orpha":364559,"name":"Dysostosis","classifications":[147,199]},{"orpha":404568,"name":"Dysostosis of genetic origin","classifications":[156]},{"orpha":183542,"name":"Genetic cranial malformation","classifications":[156]}],"children":[{"orpha":139390,"name":"Non-syndromic craniosynostosis","type":"Clinical group"},{"orpha":139393,"name":"Syndromic craniosynostosis","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable","Unknown","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":24.3,"area":"Europe","status":"Not yet validated","source":"EUROCAT European surveillance of congenital anomalies 2012[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":47.6,"area":"France","status":"Validated","source":"7762595[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":49.4,"area":"Australia","status":"Validated","source":"34626670[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":43.0,"area":"United States","status":"Validated","source":"18344207[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}