{"orpha":3366,"name":"Non-syndromic metopic craniosynostosis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated metopic craniosynostosis","Isolated trigonocephaly","Non-syndromic metopic suture synostosis"],"definition":"A form of nonsyndromic craniosynostosis characterized by the premature fusion of the metopic suture.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3366/","orphanet_url":"https://www.orpha.net/en/disease/detail/3366","names":{"fr":{"name":"Craniosynostose métopique non syndromique","synonyms":["Craniosynostose métopique isolée","Craniosynostose non syndromique de la suture métopique","Trigonocéphalie isolée"],"definition":"Forme de craniosynostose non syndromique caractérisée par une fusion prématurée de la suture métopique."},"de":{"name":"Kraniosynostose, metopische, nicht-syndromale","synonyms":["Isolierte metopische Kraniosynostose","Nicht-syndromale Synostose der metopischen Naht","Trigonozephalie, isolierte"],"definition":"Eine Form der nicht-syndromalen Kraniosynostose, die durch eine vorzeitige Verknöcherung der Metopica gekennzeichnet ist."},"es":{"name":"Craneosinostosis metópica no sindrómica","synonyms":["Craneosinostosis metópica aislada","Sinostosis de la sutura metópica no sindrómica","Trigonocefalia aislada"],"definition":"Es una forma de craneosinostosis no sindrómica caracterizada por la fusión prematura de la sutura metópica."},"it":{"name":"Craniosinostosi metopica non sindromica","synonyms":["Craniosinostosi metopica isolata","Sinostosi non sindromica della sutura metopica","Trigonocefalia isolata"]},"nl":{"name":"Niet-syndromale metopische craniosynostose","synonyms":["Geïsoleerde metopische craniosynostose","Geïsoleerde trigonocefalie","Niet-syndromale synostose van sutura metopica","Niet-syndromale synostose van voorhoofdsnaad"],"definition":"Een vorm van niet-syndromale craniosynostose, gekenmerkt door voortijdige fusie van sutura metopica (voorhoofdsnaad)."},"pt":{"name":"Craniossinostose metópica não-sindromática","synonyms":["Craniossinostose metópica isolada","Sinostose da sutura metópica não-sindromática","Trigonocefalia isolada"]},"pl":{"name":"Trigonocefalia izolowana","synonyms":["Niesyndromiczna kraniosynostoza czołowa","Niesyndromiczna kraniosynostoza obejmująca szew czołowy"]},"cs":{"name":"Izolovaná trigonocefalie","synonyms":["Nesyndromická metopická kraniosynostóza"]},"uk":{"name":"Несиндромний метопічний краніосиностоз","synonyms":["Ізольований метопічний краніосиностоз","Ізольована тригоноцефалія","Несиндромний синостоз метопічного шва"],"definition":"Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture."},"zh":{"name":"孤立型三角头畸形","synonyms":["非综合征性额缝早闭"]},"tr":{"name":"İzole trigonosefali","synonyms":["Sendromik olmayan metopik kraniyosinostoz"]}},"xrefs":[{"source":"OMIM","code":"190440","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614485","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LB70.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"20816218"},{"source":"MONDO","code":"0018065","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265535","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":620096,"name":"Non-syndromic unisutural craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"FGFR1","name":"fibroblast growth factor receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11173846[PMID]","hgnc":"3688","ensembl":"ENSG00000077782","omim":"136350","loci":["8p11.23"]},{"symbol":"FREM1","name":"FRAS1 related extracellular matrix 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21931569[PMID]","hgnc":"23399","ensembl":"ENSG00000164946","omim":"608944","loci":["9p22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.7,"area":"Europe","status":"Not yet validated","source":"21931569[PMID]_19326483[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.2979,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-07-03","source":"33351432[PMID]_31568780[PMID]","terms":[{"hpo":"HP:0011330","label":"Metopic synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000336","label":"Prominent supraorbital ridges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001085","label":"Papilledema","frequency":"Very rare (<4-1%)","criteria":null}]}}