{"orpha":620192,"name":"Non-syndromic metopic and sagittal craniosynostosis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated metopic and sagittal craniosynostosis","Non-syndromic metopic and sagittal suture synostosis"],"definition":"A form of non-syndromic multisutural craniosynostosis characterized by premature fusion of the metopic and sagittal sutures, resulting in trigonocephaly and scaphocephaly but with mild frontal bossing.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-620192/","orphanet_url":"https://www.orpha.net/en/disease/detail/620192","names":{"fr":{"name":"Craniosynostose métopique et sagittale non syndromique","synonyms":["Craniosynostose métopique et sagittale isolée"],"definition":"Forme de craniosynostose multisuturaire non syndromique caractérisée par une fusion prématurée des sutures métopique et sagittale, entraînant une trigonocéphalie et une scaphocéphalie, mais avec un front légèrement bombé."},"de":{"name":"Kraniosynostose, metopische und sagittale, nicht-syndromale","synonyms":["Isolierte metopische und sagittale Kraniosynostose","Metopische und sagittale Nahtsynostose, nicht-syndromale"],"definition":"Eine Form der nicht-syndromalen multisuturalen Kraniosynostose, die durch eine vorzeitige Fusion der metopischen und sagittalen Nähte gekennzeichnet ist und zu Trigonozephalie und Skaphozephalie, aber auch zu einer leichten frontalen Vorwölbung führt."},"es":{"name":"Craneosinostosis metópica y sagital no sindrómica","synonyms":["Craneosinostosis metópica y sagital aislada","Sinostosis de sutura metópica y sagital no sindrómica"],"definition":"Es una forma de craneosinostosis multisutural no sindrómica caracterizada por la fusión prematura de las suturas metópica y sagital, lo que produce trigonocefalia y escafocefalia, pero con una protuberancia frontal leve."},"it":{"name":"Craniosinostosi metopica e sagittale non sindromica","synonyms":["Craniosinostosi isolata metopica e sagittale","Sinostosi della sutura metopica e sagittale non sindromica"]},"nl":{"name":"Niet-syndromale metopische en sagittale craniosynostose","synonyms":["Geïsoleerde metopische en sagittale craniosynostose","Niet-syndromale synostose van sutura metopica en sutura sagittalis","Niet-syndromale synostose van voorhoofdsnaad en pijlnaad"],"definition":"Een vorm van niet-syndromale multisuturale craniosynostose, gekenmerkt door premature fusie van de voorhoofdsnaden (sutura metopica) en pijlnaden (sutura sagittalis), wat resulteert in trigonocefalie en scafocefalie maar met een mild boller voorhoofd."},"pt":{"name":"Craniossinostose sagital e metópica não-sindromática","synonyms":["Craniossinostose sagital e metópica isolada","Sinostose da sutura sagital e metópica não-sindromática"]},"pl":{"name":"Niesyndromiczna kraniosynostoza obejmująca szew czołowy i strzałkowy","synonyms":["Isolated metopic and sagittal craniosynostosis","Non-syndromic metopic and sagittal suture synostosis"],"definition":"Postać niesyndromicznej kraniosynostozy charakteryzująca się przedwczesnym zrośnięciem szwów czołowych i strzałkowych, co powoduje trigonocefalię i skafocefalię, ale z łagodnym uwypukleniem kości czołowej."},"cs":{"name":"Nesyndromická metopická a sagitální kraniosynostóza","synonyms":["Isolated metopic and sagittal craniosynostosis","Non-syndromic metopic and sagittal suture synostosis"]},"uk":{"name":"Несиндромальний метопічний та сагітальний краніосиностоз","synonyms":["Ізольований метопічний та сагітальний краніосиностоз","Несиндромний метопічний та сагітальний синостоз 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":"0850081","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680393","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":620152,"name":"Non-syndromic multisutural craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[],"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}