{"orpha":945,"name":"Acalvaria","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Primary acalvaria"],"definition":"A rare congenital malformation characterized by the absence of calvarial bones, dura mater and associated muscles while skull base, facial bones and brain structures are normal. Central nervous system is usually unaffected, however some neuropathological abnormalities such as holoprosencephaly, hydrocephalus, micropolygyria and gyration anomalies can be present. Prenatal diagnosis by ultrasonography is usually confirmed by magnetic resonance imaging as it can be confused with anencephaly or encephalocele.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-945/","orphanet_url":"https://www.orpha.net/en/disease/detail/945","names":{"fr":{"name":"Absence de voûte crânienne","definition":"Malformation congénitale rare caractérisée par l'absence d'os de la voûte crânienne, de la dure-mère et des muscles associés, alors que la base du crâne, les os de la face et les structures cérébrales sont normaux. Le système nerveux central est en principe intact, mais certaines anomalies cérébrales, telles que l'holoprosencéphalie, l'hydrocéphalie, la micropolygyrie et les anomalies de gyration peuvent être présentes. Le diagnostic prénatal par échographie est généralement confirmé par l'imagerie par résonance magnétique, car la malformation peut être confondue avec l'anencéphalie ou l'encéphalocèle."},"de":{"name":"Akranie","synonyms":["Akranie, primäre"],"definition":"Eine seltene angeborene Fehlbildung, die durch das Fehlen der Schädelknochen, der Dura mater und der zugehörigen Muskeln gekennzeichnet ist, während die Schädelbasis, die Gesichtsknochen und die Hirnstrukturen normal ausgebildet sind. Das zentrale Nervensystem ist in der Regel nicht betroffen, jedoch können einige neuropathologische Anomalien wie Holoprosenzephalie, Hydrozephalus, Mikropolygyrie und abnorme Gyrierung vorliegen. Die pränatale Diagnose mittels Ultraschall wird in der Regel durch Magnetresonanztomographie bestätigt, da sie mit Anenzephalie oder Enzephalozele verwechselt werden kann."},"es":{"name":"Acalvaria","synonyms":["Acalvaria primaria"],"definition":"Es una malformación congénita poco frecuente caracterizada por la ausencia de los huesos de la bóveda craneal, duramadre y músculos asociados, mientras que la base del cráneo, los huesos faciales y las estructuras cerebrales son normales. Por lo general, no afecta al sistema nervioso central, aunque los pacientes pueden presentar algunas alteraciones neuropatológicas como holoprosencefalia, hidrocefalia, micropoligiria y anomalías del giro. El diagnóstico prenatal ecográfico puede confundirse con anencefalia o encefalocele, por lo que suele confirmarse mediante resonancia magnética."},"it":{"name":"Acrania","synonyms":["Agenesia della volta cranica"]},"nl":{"name":"Acalvaria","synonyms":["Primaire acalvaria"],"definition":"Een zeldzame congenitale malformatie, gekenmerkt door afwezigheid botten van het schedeldak, dura mater en geassocieerde spieren, terwijl schedelbasis, aangezichtsbeenderen en hersenstructuren normaal zijn. Centraal zenuwstelsel is meestal niet aangetast, hoewel sommige neuropathologische afwijkingen zoals holoprosencefalie, hydrocefalie, polymicrogyrie en anomalieën van gyratie aanwezig kunnen zijn. Prenatale diagnose door echografie wordt meestal bevestigd met beeldvorming met magnetische resonantie aangezien verwarring mogelijk is met anencefalie of encefalocele."},"pt":{"name":"Acalvaria","synonyms":["Acrania"],"definition":"Malformação congénita rara caracterizada pela ausência de ossos calvários, dura-máter e músculos associados, enquanto a base do crânio, ossos faciais e estruturas cerebrais são normais. O sistema nervoso central geralmente não é afetado, no entanto, algumas anomalias neuropatológicas, como holoprosencefalia, hidrocefalia, micropoligiria e anomalias de giro, podem estar presentes. O diagnóstico pré-natal por ultrassonografia geralmente é confirmado por ressonância magnética, pois pode ser confundido com anencefalia ou encefalocele."},"pl":{"name":"Brak sklepienia czaszki","synonyms":["Bezczaszkowie"],"definition":"Rzadka wrodzona wada charakteryzująca się brakiem kości sklepienia czaszki, opony twardej i powiązanych mięśni, podczas gdy podstawa czaszki, kości twarzy i struktury mózgu są prawidłowe. Ośrodkowy układ nerwowy jest zwykle nienaruszony, jednak mogą występować pewne nieprawidłowości neuropatologiczne, takie jak holoprozencefalia, wodogłowie, mikropoligyria i nieprawidłowy kształt zakrętów mózgu. Prenatalna diagnoza stawiana na podstawie ultrasonografii wymaga potwierdzenia w obrazowaniu rezonansem magnetycznym, ponieważ wada ta może być mylona z bezmózgowiem lub przepukliną mózgową."},"cs":{"name":"Akranie","synonyms":["Primary acalvaria"]},"uk":{"name":"Акальварія","synonyms":["Первинна акальварія"],"definition":"A rare congenital malformation characterized by the absence of calvarial bones, dura mater and associated muscles while skull base, facial bones and brain structures are normal. Central nervous system is usually unaffected, however some neuropathological abnormalities such as holoprosencephaly, hydrocephalus, micropolygyria and gyration anomalies can be present. Prenatal diagnosis by ultrasonography is usually confirmed by magnetic resonance imaging as it can be confused with anencephaly or encephalocele."},"zh":{"name":"无颅骨症","synonyms":["原发性无颅骨症"]},"tr":{"name":"Akalvaria","synonyms":["Primer akalvaria"]}},"xrefs":[{"source":"ICD-10","code":"Q00.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA00.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1719021696"},{"source":"MONDO","code":"0019795","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535570","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2930936","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"361","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98038,"name":"Cranial malformation","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001362","label":"Skull defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002101","label":"Abnormal lung lobation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Occasional (29-5%)","criteria":null}]}}