{"orpha":620158,"name":"Non-syndromic non-specific multisutural craniosynostosis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated non-specific multisutural craniosynostosis","Non-syndromic non-specific multiple suture synostosis"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-620158/","orphanet_url":"https://www.orpha.net/en/disease/detail/620158","names":{"fr":{"name":"Craniosynostose multisuturaire non syndromique non spécifique","synonyms":["Craniosynostose multisuturaire isolée non spécifique"]},"de":{"name":"Kraniosynostose, multisuturale unspezifische, nicht-syndromale","synonyms":["Isolierte unspezifische multisuturale Kraniosynostose","Multiple Nahtsynostose, unspezifische, nicht-syndromale"]},"es":{"name":"Craneosinostosis multisutural inespecífica no sindrómica","synonyms":["Craneosinostosis multisutural inespecífica aislada","Sinostosis de múltiples suturas inespecífica no sindrómica"]},"it":{"name":"Craniosinostosi aspecifica multisuturale non sindromica","synonyms":["Craniosinostosi isolata multisuturale aspecifica","Sinostosi aspecifica di diverse suture non sindromica"]},"nl":{"name":"Niet-syndromale aspecifieke multisuturale craniosynostose","synonyms":["Geïsoleerde aspecifieke multisuturale craniosynostose","Niet-syndromale aspecifieke synostose van meerdere schedelnaden"]},"pt":{"name":"Craniossinostose multissutural não-específica não-sindromática","synonyms":["Craniossinostose multissutural não-específica isolada","Sinostose de múltiplas suturas não-específica não-sindromática"]},"pl":{"name":"Niesyndromiczna niespecyficzna kraniosynostoza obejmująca wiele szwów","synonyms":["Isolated non-specific multisutural craniosynostosis","Non-syndromic non-specific multiple suture synostosis"]},"cs":{"name":"Nesyndromická nespecifikovaná multisuturální kraniosynostóza","synonyms":["Isolated non-specific multisutural craniosynostosis","Non-syndromic non-specific multiple suture synostosis"]},"uk":{"name":"Несиндромальний неспецифічний краніосиностоз декількох швів","synonyms":["Ізольований неспецифічний мультисуглобовий краніосиностоз","Несиндромний неспецифічний синостоз множинних швів"]}},"xrefs":[{"source":"ICD-10","code":"Q75.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB70.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0850078","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680398","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":2343,"name":"OBSOLETE: Isolated cloverleaf skull syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":620152,"name":"Non-syndromic multisutural craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"FUZ","name":"fuzzy planar cell polarity protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34719684[PMID]","hgnc":"26219","ensembl":"ENSG00000010361","omim":"610622","loci":["19q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}