{"orpha":620146,"name":"Non-syndromic unisquamosal craniosynostosis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated unisquamosal craniosynostosis","Non-syndromic unilateral squamosal suture synostosis"],"definition":"A form of non-syndromic unisutural craniosynostosis characterized by premature fusion of one of the two squamosal sutures. Most cases of isolated unilateral squamosal craniosynostosis are normocephalic. The risk of increased intracranial pressure is low.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-620146/","orphanet_url":"https://www.orpha.net/en/disease/detail/620146","names":{"fr":{"name":"Craniosynostose squameuse unilatérale non syndromique","synonyms":["Craniosynostose squameuse unilatérale isolée"],"definition":"Forme de craniosynostose unisuturaire non syndromique caractérisée par une fusion prématurée de l'une des deux sutures squameuses. La plupart des cas de craniosynostose squameuse unilatérale isolée sont normocéphaliques. Le risque d'augmentation de la pression intracrânienne est faible."},"de":{"name":"Kraniosynostose, unisquamosale, nicht-syndromale","synonyms":["Isolierte unisquamosale Kraniosynostose","Squamosalnahtsynostose, unilaterale, nicht-syndromale"],"definition":"Eine Form der nicht-syndromalen unisuturalen Kraniosynostose, die durch die vorzeitige Verschmelzung einer der beiden Squamosalnähte gekennzeichnet ist. Die meisten Fälle von isolierter unilateraler Squamosal-Kraniosynostose sind normozephal. Das Risiko eines erhöhten intrakraniellen Drucks ist gering."},"es":{"name":"Craneosinostosis uniescamosa no sindrómica","synonyms":["Craneosinostosis monoescamosa aislada","Sinostosis de sutura escamosa unilateral no sindrómica"],"definition":"Es una forma de craneosinostosis unisutural no sindrómica caracterizada por la fusión prematura de una de las dos suturas escamosas. La mayoría de los casos de craneosinostosis escamosa unilateral aislada son normocefálicos. El riesgo de aumento de la presión intracraneal es bajo."},"it":{"name":"Craniosinostosi unisquamosanon sindromica","synonyms":["Craniosinostosi isolata unisquamosa","Sinostosi monolaterale della sutura squamosa non sindromica"]},"nl":{"name":"Niet-syndromale unilaterale synostose van sutura squamosa","synonyms":["Geïsoleerde unilaterale craniosynostose van sutura squamosa"],"definition":"Een vorm van niet-syndromale unisuturale craniosynostose, gekenmerkt door premature fusie van een van de twee schubnaden (sutura squamosa). De meeste gevallen van geïsoleerde unilaterale craniosynostose van sutura squamosa hebben een normaal gevormd hoofd (normocefalie). Het risico op verhoogde intracraniële druk is laag."},"pt":{"name":"Craniossinostose uniescamosa não-sindromática","synonyms":["Craniossinostose uniesquamosa isolada","Sinostose da sutura escamosa unilateral não-sindromática"]},"pl":{"name":"Niesyndromiczna kraniosynostoza obejmująca szew łuskowy","synonyms":["Isolated unisquamosal craniosynostosis","Non-syndromic unilateral squamosal suture synostosis"],"definition":"Forma niesyndromicznej kraniosynostozy charakteryzująca się przedwczesnym zrośnięciem jednego z dwóch szwów łuskowych. U większości pacjentów występuje normocefalia. Ryzyko wzrostu ciśnienia wewnątrzczaszkowego jest niskie."},"cs":{"name":"Nesyndromická uniskvamózní kraniosynostóza","synonyms":["Isolated unisquamosal craniosynostosis","Non-syndromic unilateral squamosal suture synostosis"]},"uk":{"name":"Несиндромальний унісквамозний краніосиностоз","synonyms":["Ізольований унісквамозний краніосиностоз","Несиндромний односторонній синостоз сквамозного шва"]}},"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":"0850076","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680400","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":620096,"name":"Non-syndromic unisutural 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}