{"orpha":1048,"name":"Isolated anencephaly/exencephaly","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare neural tube defect characterized by the absence of cranial vault and brain structures. This lethal malformation is secondary to a failure to close the anterior neuropore during early embryonic development, leading to exencephaly (''open'' brain). The degeneration of the cerebral tissue is due to their exposure to the amniotic fluid and converts the exencephaly into anencephaly (absence of the brain).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1048/","orphanet_url":"https://www.orpha.net/en/disease/detail/1048","names":{"fr":{"name":"Anencéphalie/exencéphalie isolée","definition":"Anomalie rare du tube neural caractérisée par l'absence de voûte crânienne et de structures cérébrales. Cette malformation létale est due à un défaut de fermeture du neuropore antérieur au cours des premiers stades du développement embryonnaire, ce qui entraîne une exencéphalie (cerveau « ouvert »). La dégénérescence des tissus cérébraux est due à leur exposition au liquide amniotique et transforme l'exencéphalie en anencéphalie (absence de cerveau)."},"de":{"name":"Anenzephalie/Exenzephalie, isolierte","definition":"Eine seltene Neuralrohrfehlbildung, die durch das Fehlen der Schädeldecke und der Hirnstrukturen gekennzeichnet ist. Diese tödliche Fehlbildung ist eine Folge des Versagens des vorderen Neuroporus, sich während der frühen Embryonalentwicklung zu schließen, was zu einer Exenzephalie führt, bei der das Gehirn außerhalb des Schädels liegt. Die Degeneration des Hirngewebes ist auf dessen Kontakt mit dem Fruchtwasser zurückzuführen und verwandelt die Exenzephalie in eine Anenzephalie (Fehlen des Gehirns)."},"es":{"name":"Anencefalia/exencefalia aislada","definition":"Es un defecto poco frecuente del tubo neural caracterizado por la ausencia de la bóveda craneal y de estructuras cerebrales. Esta malformación letal es secundaria a un defecto de cierre del neuroporo anterior durante el desarrollo embrionario temprano, lo que resulta en exencefalia (cerebro \"abierto\"). La degeneración del tejido cerebral se debe a su exposición al líquido amniótico y con una progresión de la exencefalia a anencefalia (ausencia de cerebro)."},"it":{"name":"Anencefalia/exencefalia isolata"},"nl":{"name":"Geïsoleerde anencefalie/exencefalie","definition":"Een zeldzaam neuralebuisdefect, gekenmerkt door de afwezigheid van schedeldak en hersenstructuren. Deze letale malformatie is secundair aan gefaalde sluiting van de anterieure neuroporus tijdens de vroege embryonale ontwikkeling, wat leidt tot exencefalie (''open'' hersenen). Degeneratie van hersenweefsel is het gevolg aan blootstelling ervan aan vruchtwater, en herleidt de exencefalie tot anencefalie (afwezigheid van de hersenen)."},"pt":{"name":"Anencefalia"},"pl":{"name":"Izolowana anencefalia/eksencefalia"},"cs":{"name":"Izolovaná anencefalie/exencefalie"},"uk":{"name":"Ізольована аненцефалія/екзенцефалія","definition":"A neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days."},"zh":{"name":"孤立型无脑回畸形/露脑畸形"},"tr":{"name":"İzole anensefali / eksensefali"}},"xrefs":[{"source":"OMIM","code":"206500","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"619452","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA00.0","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"1292761836"},{"source":"ICD-11","code":"LA00.Y","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"8791","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680972","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5808","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":268843,"name":"Malformation of the neurenteric canal, spinal cord and column","classifications":[147,156,181]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[{"orpha":563609,"name":"Isolated anencephaly","type":"Clinical subtype"},{"orpha":563612,"name":"Isolated exencephaly","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"MTHFR","name":"methylenetetrahydrofolate reductase","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"31424828[PMID]","hgnc":"7436","ensembl":"ENSG00000177000","omim":"607093","loci":["1p36.22"],"via":{"orpha":563609,"name":"Isolated anencephaly"}},{"symbol":"MTHFR","name":"methylenetetrahydrofolate reductase","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"31516628[PMID]","hgnc":"7436","ensembl":"ENSG00000177000","omim":"607093","loci":["1p36.22"],"via":{"orpha":563612,"name":"Isolated exencephaly"}},{"symbol":"VANGL2","name":"VANGL planar cell polarity protein 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"31424828[PMID]","hgnc":"15511","ensembl":"ENSG00000162738","omim":"600533","loci":["1q23.2"],"via":{"orpha":563609,"name":"Isolated anencephaly"}},{"symbol":"VANGL2","name":"VANGL planar cell polarity protein 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"31516628[PMID]","hgnc":"15511","ensembl":"ENSG00000162738","omim":"600533","loci":["1q23.2"],"via":{"orpha":563612,"name":"Isolated exencephaly"}}],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":4.22,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies [OTHER] _ORPHANET_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":20.6,"area":"United States","status":"Validated","source":"20878909[PMID]_Center for Diseases Control and Prevention 2004-2006[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":210.0,"area":"India","status":"Validated","source":"23873811[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":120.0,"area":"Iran, Islamic Republic of","status":"Validated","source":"20039767[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":58.0,"area":"Singapore","status":"Validated","source":"17245510[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.1,"area":"Worldwide","status":"Validated","source":"36253858[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":1.4,"area":"Africa","status":"Validated","source":"34887455[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":8.6,"area":"Australia","status":"Validated","source":"36253858[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002323","label":"Anencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008207","label":"Primary adrenal insufficiency","frequency":"Very frequent (99-80%)","criteria":null}]}}