{"orpha":566847,"name":"Aprosencephaly/atelencephaly spectrum","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["AP/AT spectum"],"definition":"A group of rare central nervous system malformations characterized by varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i.e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-566847/","orphanet_url":"https://www.orpha.net/en/disease/detail/566847","names":{"fr":{"name":"Spectre aprosencéphalie/atélencéphalie","synonyms":["Spectre AP/AT"],"definition":"Groupe de malformations rares du système nerveux central caractérisées par une absence ou une dysplasie de degré variable des dérivés du prosencéphale (c'est-à-dire, le télencéphale et le diencéphale), en l'absence d'anomalies de la voûte crânienne. Le spectre comprend l'aprosencéphalie, qui est la forme la moins sévère où seul le télencéphale est atteint, et l'atélencéphalie où le diencéphale est également atteint. Les malformations peuvent être isolées ou associées à d'autres anomalies."},"de":{"name":"Aprosenzephalie/Atelenzephalie-Spektrum","synonyms":["AP/AT-Spektrum"],"definition":"Eine Gruppe seltener Fehlbildungen des Zentralnervensystems, die durch ein mehr oder weniger starkes Fehlen oder eine Dysplasie der Ableitungen des Prosenzephalons (d. h. Telenzephalon und Dienzephalon) bei intaktem Schädelgewölbe gekennzeichnet sind. Das Spektrum umfasst die Atelenzephalie, die weniger schwere Form, bei der nur das Telenzephalon betroffen ist, und die Aprosenzephalie, bei der auch das Zwischenhirn betroffen ist. Die Fehlbildungen können in isolierter Form oder in Verbindung mit anderen Anomalien auftreten."},"es":{"name":"Espectro aprosencefalia/atelencefalia","definition":"Es un grupo de malformaciones poco frecuentes del sistema nervioso central caracterizado por un grado variable de ausencia o de displasia de los derivados del prosencéfalo (es decir, el telencéfalo y el diencéfalo), con una bóveda craneal intacta. El espectro comprende la atelencefalia, la forma menos grave, en la que sólo está afectado el telencéfalo, y la aprosencefalia, que afecta también al diencéfalo. Las malformaciones pueden presentarse de forma aislada o asociadas a otras anomalías."},"it":{"name":"Spettro dell'aprosencefalia/atelencefalia","synonyms":["Spettro AP/AT"],"definition":"Si tratta di un gruppo di malformazioni rare del sistema nervoso centrale, caratterizzate da agenesia o displasia di grado variabile dei derivati del prosencefalo (ovvero il telencefalo e diencefalo), con volta cranica intatta. Lo spettro comprende l'atelenencefalia, la forma meno grave, in cui è interessato solo il telencefalo, e l'aprosencefalia, in cui è coinvolto anche il diencefalo. Le malformazioni possono essere isolate o associarsi ad altre anomalie."},"nl":{"name":"Aprosencefalie/atelencefalie-spectrum","synonyms":["AP/AT-spectum"],"definition":"Een groep van zeldzame malformaties van centraal zenuwstelsel, gekarakteriseerd door variabele gradaties van afwezigheid of dysplasie van structuren afgeleid van het prosencephalon (i.e. telencephalon en diencephalon), met een intact schedeldak. Het spectrum omvat atelencefalie, de minder ernstige vorm, waarbij enkel het telencephalon is aangetast, en aprosencefalie, waarbij ook het diencephalon betrokken is. De malformaties kunnen geïsoleerd voorkomen, of geassocieerd zijn met andere anomalieën."},"pt":{"name":"Espectro clínico de aprosencefalia/atelencefalia"},"pl":{"name":"Aprosencefalia/atelencefalia spektrum","synonyms":["AP/AT spectum"]},"cs":{"name":"Spektrum aprosencefalie/atelencefalie","synonyms":["AP/AT spectum"]},"uk":{"name":"Спектр апросенцефалії/ателенцефалії","synonyms":["Спектр AP/AT"],"definition":"A group of rare central nervous system malformations characterized by varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i. e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies."},"zh":{"name":"脑前部缺无/脑发育不全谱系","synonyms":["AP/AT spectum"]},"tr":{"name":"Aprosensefali / atelensefali spektrumu","synonyms":["AP/AT spektrumu"]}},"xrefs":[{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA05.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1740361952"},{"source":"MONDO","code":"0035448","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680135","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":459787,"name":"Lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[147]},{"orpha":268926,"name":"Midline cerebral malformation","classifications":[147,181]}],"children":[{"orpha":566857,"name":"Aprosencephaly","type":"Clinical subtype"},{"orpha":566852,"name":"Atelencephaly","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}