{"orpha":63260,"name":"Craniorachischisis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-63260/","orphanet_url":"https://www.orpha.net/en/disease/detail/63260","names":{"fr":{"name":"Craniorachischisis","definition":"Le craniorachischisis est la forme la plus sévère des anomalies de fermeture du tube neural. C'est une malformation congénitale grave du système nerveux central."},"de":{"name":"Kraniorhachischisis","definition":"Die Kraniorachischisis ist die schwerste Form eines Neuralrohrdefektes, bei der Gehirn und Rückenmark in unterschiedlichem Ausmaß offen liegen."},"es":{"name":"Craneorraquisquisis","definition":"Es la forma más grave de las anomalías del tubo neural, en la que tanto el cerebro como la médula espinal permanecen abiertos en grado variable. Es una malformación congénita muy poco frecuente del sistema nervioso central."},"it":{"name":"Craniorachischisi"},"nl":{"name":"Craniorachischisis","definition":"Craniorachischisis is de meest ernstige vorm van neuralebuisdefect, waarbij zowel hersenen als ruggenmerg in variabele mate open blijven. Het is een zeer zeldzame congenitale malformatie van centraal zenuwstelsel."},"pt":{"name":"Cranioraquisquisis","definition":"A cranioraquisquisis é a forma mais grave de defeito de tubo neural em que tanto o cérebro como a medula espinhal permanecem abertos em graus variáveis. É uma malformação congénita muito rara do sistema nervoso central."},"pl":{"name":"Rozszczep czaszki i kręgosłupa"},"cs":{"name":"Kraniorachischíza","synonyms":["Vrozený rozštěp lebečního krytu a páteře"]},"uk":{"name":"Краніорахішизис","definition":"Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system."},"zh":{"name":"颅脊柱裂"},"tr":{"name":"Kraniyorakiz"}},"xrefs":[{"source":"ICD-10","code":"Q00.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA00.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"675690362"},{"source":"MONDO","code":"0018969","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0152426","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10504","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10011321","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":268843,"name":"Malformation of the neurenteric canal, spinal cord and column","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"DACT1","name":"dishevelled binding antagonist of beta catenin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22610794[PMID]","hgnc":"17748","ensembl":"ENSG00000165617","omim":"607861","loci":["14q23.1"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"21799625[PMID]","terms":[{"hpo":"HP:0002323","label":"Anencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005857","label":"Cervical spina bifida","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002475","label":"Myelomeningocele","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010301","label":"Spinal dysraphism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010309","label":"Bifid sternum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010497","label":"Sirenomelia","frequency":"Occasional (29-5%)","criteria":null}]}}