{"orpha":35099,"name":"Non-syndromic bicoronal craniosynostosis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Non-syndromic bilateral coronal suture synostosis","Isolated bicoronal craniosynostosis","Isolated synostotic brachycephaly"],"definition":"A form of nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-35099/","orphanet_url":"https://www.orpha.net/en/disease/detail/35099","names":{"fr":{"name":"Craniosynostose bicoronale non syndromique","synonyms":["Brachycéphalie synostotique isolée","Craniosynostose bicoronale isolée","Craniosynostose coronale unilatérale non syndromique"],"definition":"Forme de craniosynostose non syndromique consistant en une fusion prématurée des deux sutures coronales entraînant une déformation du crâne avec un front large et plat et des crêtes coronales palpables."},"de":{"name":"Kraniosynostose, bikoronale, nicht-syndromale","synonyms":["Isolierte bikoronale Kraniosynostose","Isolierte synostotische Brachyzephalie","Nicht-syndromale bilaterale Synostose der Koronarnaht"],"definition":"Eine Form der nicht-syndromalen Kraniosynostose, die aus einer vorzeitigen Verknöcherung beider Scheitelnähte besteht und zu einer Fehlbildung des Schädels mit einer breiten, flachen Stirn und tastbaren Scheitelwülsten führt."},"es":{"name":"Craneosinostosis bicoronal no sindrómica","synonyms":["Braquicefalia sinostótica aislada","Craneosinostosis bicoronal aislada","Sinostosis de la sutura coronal bilateral no sindrómica"],"definition":"Es una forma de craneosinostosis no sindrómica que consiste en la fusión prematura de ambas suturas coronales resultando en una deformidad del cráneo caracterizada por una frente ancha y aplanada y crestas coronales palpables."},"it":{"name":"Craniosinostosi bicoronale non sindromica","synonyms":["Brachicefalia isolata","Craniosinostosi bicoronale isolata","Sinostosi non sindromica bilaterale della sutura coronale"]},"nl":{"name":"Niet-syndromale bicoronale craniosynostose","synonyms":["Geïsoleerde bicoronale craniosynostose","Geïsoleerde synostotische brachycefalie","Niet-syndromale bilaterale synostose van kroonnaad","Niet-syndromale bilaterale synostose van sutura coronalis"],"definition":"Een vorm van niet-syndromale craniosynostose, gekenmerkt door premature fusie van beide kroonnaden (sutura coronalis), met als resultaat deformiteit van de schedel met een breed en plat voorhoofd en tastbare richels aan de kroonnaden."},"pt":{"name":"Craniossinostose bicoronal não-sindromática","synonyms":["Braquicefalia sinostótica isolada","Craniossinostose bicoronal isolada","Sinostose da sutura coronal bilateral não-sindromática"]},"pl":{"name":"Brachycefalia izolowana","synonyms":["Niesyndromiczna synostoza dwuwieńcowa"]},"cs":{"name":"Izolovaná brachycefalie","synonyms":["Nesyndromická bikoronární synostóza"]},"uk":{"name":"Несиндромний бікоронарний краніосиностоз","synonyms":["Ізольований бікоронарний краніосиностоз","Ізольована брахіцефалія","Несиндромний двосторонній синостоз коронарного шва"],"definition":"Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges."},"zh":{"name":"孤立型短头","synonyms":["非综合征型双头骨性结合"]},"tr":{"name":"İzole brakisefali","synonyms":["Sendromik olmayan bikoronal sinostoz"]}},"xrefs":[{"source":"OMIM","code":"123100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615314","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616602","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB70.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"69212852"},{"source":"MONDO","code":"0018114","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0221356","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98684,"name":"Craniostenosis with strabismus","classifications":[156,189]},{"orpha":620152,"name":"Non-syndromic multisutural craniosynostosis","classifications":[147,156,199]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ZIC1","name":"Zic family zinc finger 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"26340333[PMID]","hgnc":"12872","ensembl":"ENSG00000152977","omim":"600470","loci":["3q24"]},{"symbol":"TCF12","name":"transcription factor 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23354436[PMID]","hgnc":"11623","ensembl":"ENSG00000140262","omim":"600480","loci":["15q21.3"]},{"symbol":"FGFR3","name":"fibroblast growth factor receptor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10914960[PMID]","hgnc":"3690","ensembl":"ENSG00000068078","omim":"134934","loci":["4p16.3"]},{"symbol":"TWIST1","name":"twist family bHLH transcription factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17343269[PMID]","hgnc":"12428","ensembl":"ENSG00000122691","omim":"601622","loci":["7p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":77.0,"area":"Worldwide","status":"Validated","source":"23354436[PMID]_25271085[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"23354436[PMID]_25271085[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009891","label":"Underdeveloped supraorbital ridges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009701","label":"Metacarpal synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null}]}}