{"orpha":1665,"name":"Sporadic fetal brain disruption sequence","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1665/","orphanet_url":"https://www.orpha.net/en/disease/detail/1665","names":{"fr":{"name":"Syndrome de destruction du cerveau foetal sporadique","definition":"Une malformation rare et non syndromique du système nerveux central, caractérisée par une microcéphalie sévère (circonférence occipito-frontale moyenne de -5,8 SD), des sutures se superposant, une proéminence de l'os occipital en forme de quille, un cuir chevelu rugueux avec des cheveux normaux, et des signes d'atteinte neurologique. L'imagerie cérébrale peut révéler une ventriculomégalie, une anomalie du tissu cortical et une hydranencéphalie."},"de":{"name":"Sporadische Fetal-brain-disruption-Sequenz","synonyms":["Hirnfehlbildung, fetale komplexe sporadische"],"definition":"Eine seltene, nicht-syndromale Fehlbildungsstörung des Zentralnervensystems, die durch schwere Mikrozephalie (durchschnittlicher okzipitofrontaler Umfang -5,8 SD), überlappende Nähte, kielartige okzipitale Knochenvorwölbung, Kopfhaut-Rugae mit normalem Haarmuster und Anzeichen neurologischer Beeinträchtigung gekennzeichnet ist. Die Bildgebung des Gehirns kann eine Ventrikulomegalie, ein kortikales Gewebedefizit und eine Hydranenzephalie zeigen."},"es":{"name":"Secuencia disruptiva del cerebro fetal esporádica","definition":"La secuencia disruptiva del cerebro fetal esporádica, es un defecto congenito del sistema nervioso central, no sindrómico, poco frecuente, y caracterizado por microcefalia severa (circunferencia occipitofrontal promedio menor de 5.8 DS), acabalgamiento de las suturas craneales, prominencia del hueso occipital en forma de ''quilla de barco'', pliegues dermicos en el cuero cabelludo con un patrón normal de distribución del cabello y signos de deterioro neurológico. Las imágenes cerebrales pueden mostrar ventriculomegalia, déficit de tejido cortical e hidranencefalia."},"it":{"name":"Sequenza sporadica da distruzione del cervello fetale","definition":"La sequenza sporadica da distruzione del cervello fetale è una malformazione rara non sindromica del sistema nervoso centrale, caratterizzata da microcefalia grave (circonferenza occipitale media -5,8 SD), sovrapposizione delle suture, prominenza dell'osso occipitale a forma di chiglia, cuoio capelluto rugoso con capelli normali e sintomi neurologici. Le immagini diagnostiche del cervello evidenziano ventricolomegalia, difetti corticali e idranencefalia."},"nl":{"name":"Sporadische foetale hersendisruptiesequentie","definition":"Sporadische foetale hersendisruptiesequentie is een zeldzame, niet-syndromale malformatie van het centrale zenuwstelsel die gekarakteriseerd wordt door ernstige microcefalie (gemiddelde occipitofrontale omtrek -5,8 SD), overlappende suturen, kielachtige uitsteeksels van het os occipitale (achterhoofdsbeen), plooien (rugae) op de hoofdhuid met een normaal haarpatroon, en tekenen van neurologische aantasting. Beeldvorming van de hersenen toont mogelijk ventriculomegalie, verlies van corticaal weefsel, en hydranencefalie."},"pt":{"name":"Sequência de disrupção cerebral fetal esporádica"},"pl":{"name":"Sporadyczna sekwencja dysrupcji mózgu u płodu"},"cs":{"name":"Sekvence sporadické fetální mozkové disrupce"},"uk":{"name":"Послідовність спорадичних порушень розвитку мозку плода","definition":"Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly."},"zh":{"name":"散发性胎儿大脑受损序列"},"tr":{"name":"Sporadik fetal beyin hasar dizisi"}},"xrefs":[{"source":"ICD-10","code":"Q02","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015660","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706553","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":199633,"name":"Non-syndromic cerebral malformation","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"11760023[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"11760023[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006887","label":"Intellectual disability, progressive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000834","label":"Abnormality of the adrenal glands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010515","label":"Aplasia/Hypoplasia of the thymus","frequency":"Occasional (29-5%)","criteria":null}]}}