{"orpha":620186,"name":"Non-syndromic unicoronal and sagittal craniosynostosis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated unicoronal and sagittal craniosynostosis","Non-syndromic unilateral coronal and sagittal suture synostosis"],"definition":"A form of non-syndromic multisutural craniosynostosis characterized by premature fusion of the unicoronal and sagittal sutures, resulting in anterior plagiocephaly with contralateral frontal bulging and elongated head shape (turricephaly). Orbital abnormality and strabismus are associated features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-620186/","orphanet_url":"https://www.orpha.net/en/disease/detail/620186","names":{"fr":{"name":"Craniosynostose unicoronale et sagittale non syndromique","synonyms":["Craniosynostose unicoronale et sagittale isolée"],"definition":"Forme de craniosynostose multisuturaire non syndromique caractérisée par une fusion prématurée des sutures unicoronale et sagittale, entraînant une plagiocéphalie antérieure avec bombement controlatéral du front et une forme allongée de la tête (turricéphalie). Des anomalies des orbites et un strabisme sont également associés."},"de":{"name":"Kraniosynostose, unikoronale und sagittale, nicht-syndromale","synonyms":["Isolierte unikoronale und sagittale Kraniosynostose","Unilaterale koronale und sagittale Nahtsynostose, nicht-syndromale"],"definition":"Eine Form der nicht-syndromalen multisuturalen Kraniosynostose, die durch eine vorzeitige Fusion der unikoronalen und sagittalen Nähte gekennzeichnet ist und zu einer anterioren Plagiozephalie mit kontralateraler frontaler Vorwölbung und länglicher Kopfform (Turricephalie) führt. Orbitalanomalien und Strabismus sind assoziierte Merkmale."},"es":{"name":"Craneosinostosis unicoronal y sagital no sindrómica","synonyms":["Craneosinostosis unicoronal y sagital aislada","Sinostosis de sutura coronal y sagital unilateral no sindrómica"],"definition":"Es una forma de craneosinostosis multisutural no sindrómica caracterizada por la fusión prematura de las suturas unicoronal y sagital, lo que resulta en plagiocefalia anterior con un abultamiento frontal contralateral y una cabeza de forma alargada (turricefalia). La anomalía orbitaria y el estrabismo son características asociadas."},"it":{"name":"Craniosinostosi monocoronale e sagittale non sindromica","synonyms":["Craniosinostosi isolata monocoronale e sagittale","Sinostosi monolaterale della sutura sagittale e coronale non sindromica"]},"nl":{"name":"Niet-syndromale unicoronale en sagittale craniosynostose","synonyms":["Geïsoleerde unicoronale en sagittale craniosynostose","Niet-syndromale sagittale en unilaterale coronale synostose","Niet-syndromale synostose van unilaterale kroonnaad en pijlnaad","Niet-syndromale synostose van unilaterale sutura coronalis en sutura sagittalis"],"definition":"Een vorm van niet-syndromale multisuturale craniosynostose, gekenmerkt door premature fusie van één kroonnaad (sutura coronalis) en pijlnaden (sutura sagittalis), wat resulteert in anterieure plagiocefalie met contralaterale frontale uitpuiling en een langwerpig hoofd (turricefalie). Afwijking van de oogkas en strabisme zijn geassocieerde kenmerken."},"pt":{"name":"Craniossinostose sagital e unicoronal não-sindromática","synonyms":["Craniossinostose sagital e unicoronal isolada","Sinostose da sutura sagital e coronal unilateral não-sindromática"]},"pl":{"name":"Niesyndromiczna kraniosynostoza obejmująca szew węgłowy i strzałkowy","synonyms":["Isolated unicoronal and sagittal craniosynostosis","Non-syndromic unilateral coronal and sagittal suture synostosis"],"definition":"Forma niesyndromicznej kraniosynostozy charakteryzująca się przedwczesnym jednostronnym zrośnięciem szwów wieńcowych i strzałkowych, skutkująca przednią plagiocefalią z przeciwstronnym uwypukleniem czoła i wydłużonym kształtem głowy (turricefalia). Towarzyszą nieprawidłowości oczodołów i zez."},"cs":{"name":"Nesyndromická unikoronární a sagitální kraniosynostóza","synonyms":["Isolated unicoronal and sagittal craniosynostosis","Non-syndromic unilateral coronal and sagittal suture synostosis"]},"uk":{"name":"Несиндромальний унікоронарний та сагітальний краніосиностоз","synonyms":["Ізольований однокоронний та сагітальний краніосиностоз","Несиндромний односторонній коронарний та сагітальний шовний синостоз"]}},"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":"0850080","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680396","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}