{"orpha":823,"name":"Spina bifida and other spinal dysraphisms","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Isolated spina bifida","Isolated spinal dysraphism"],"definition":"A group of rare neural tube defect disorders characterized by improper closure of the spinal column during embryonal development that is usually not associated with other major congenital malformations but may include ventriculomegaly. The extent of the closure defect may vary, ranging from spina bifida occulta, in which the site of the lesion is not exposed (e.g. an isolated posterior vertebral arch defect), to spina bifida aperta, in which the lesion may be conformed of proturding spinal cord and meninges (myelomeningocele) or meninges exposure only (meningocele), with or without a proturding sac at the site of the lesion, to the most severe defect which includes total exposure of the spinal cord along its full length (rachischisis). Depending on the type, size and site of the defect, severe morbidity, typically inlcuding motor, sensory and sphincter dysfunction, and mortality may be associated. Spina bifida occulta may be asymptomatic.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-823/","orphanet_url":"https://www.orpha.net/en/disease/detail/823","names":{"fr":{"name":"Spina bifida et autres dysraphismes spinaux","synonyms":["Dysraphisme spinal isolé","Spina bifida isolé"],"definition":"Un groupe d'anomalies rares du tube neural caractérisées par une fermeture inadéquate de la colonne vertébrale pendant le développement embryonnaire, habituellement non associées à d'autres malformations congénitales majeures, mais pouvant comporter une ventriculomégalie. L'étendue de l'anomalie de fermeture peut varier, allant du spina bifida occulta, dans lequel le site de la lésion n'est pas exposé (par exemple un défaut isolé de l'arc vertébral postérieur), au spina bifida aperta, dans lequel la lésion peut être constituée d'une protubérance de la moelle épinière et de méninges (myéloméningocèle) ou d'une exposition des méninges seulement (méningocèle), avec ou sans sac de protubérance au site de la lésion, jusqu'au défaut le plus grave qui comprend une exposition totale de la moelle épinière sur toute sa longueur (rachischisis). Selon le type, la taille et le site de l'anomalie, une morbidité grave, comprenant généralement un dysfonctionnement moteur, sensoriel et sphinctérien, et une mortalité peuvent être associées. La maladie peut être asymptomatique."},"de":{"name":"Spina bifida und weitere spinale Dysraphien","definition":"Eine Gruppe seltener Neuralrohrdefekte, die durch einen unzureichenden Verschluss der Wirbelsäule während der Embryonalentwicklung gekennzeichnet sind und in der Regel nicht mit anderen schwerwiegenden angeborenen Fehlbildungen einhergehen, aber eine Ventrikulomegalie umfassen können. Das Ausmaß des Verschlussdefekts kann variieren und reicht von Spina bifida occulta, bei der die Stelle der Läsion nicht freigelegt ist (z. B. ein isolierter posteriorer Wirbelbogendefekt), bis hin zu Spina bifida aperta, bei der die Läsion aus einem vorfallenden Rückenmarks und der Hirnhäute (Myelomeningozele) oder nur der freiliegenden Hirnhäute (Meningozele) mit oder ohne einen vorstehenden Sack an der Stelle der Läsion bis hin zum schwersten Defekt, der die vollständige Freilegung des Rückenmarks über seine gesamte Länge (Rachischisis) umfasst. Je nach Art, Größe und Lage des Defekts kann es zu schwerer Morbidität, typischerweise einschließlich motorischer, sensorischer und Schließmuskelstörungen, und Mortalität kommen. Spina bifida occulta kann asymptomatisch sein."},"es":{"name":"Espina bífida aislada","definition":"Es un grupo de trastornos poco frecuentes por defectos del tubo neural caracterizados por un cierre inadecuado de la columna vertebral durante el desarrollo embrionario, no asociado a otras malformaciones congénitas importantes ni a ventriculomegalia. La extensión del defecto del cierre puede variar desde espina bífida oculta, en la cual la lesión no está expuesta (p. ej. un defecto aislado del arco vertebral posterior), hasta la espina bífida abierta, en la cual la lesión puede estar formada por una protuberancia de la médula espinal y las meninges (mielomeningocele) o por una exposición única de las meninges (meningocele), con o sin la presencia de un saco sobresaliente en la zona de la lesión, o hasta el defecto más grave que incluye la exposición total de la médula espinal en toda su longitud (raquisquisis). Según el tipo, tamaño y localización del defecto, se puede asociar una morbilidad grave que incluye, típicamente, disfunción motora, sensitiva y esfinteriana, así como mortalidad. La espina bífida oculta puede ser asintomática."},"it":{"name":"Spina bifida isolata","definition":"Si tratta di un gruppo di difetti rari del tubo neurale, caratterizzati da anomalie della chiusura della colonna vertebrale durante lo sviluppo dell'embrione, non associati ad altre gravi malformazioni congenite o a ventricolomegalia. L'ampiezza del difetto di chiusura è variabile, e comprende la spina bifida occulta, nella quale l'area della lesione non è esposta (ad es. un difetto isolato dell'arco vertebrale posteriore), la spina bifida aperta, nella quale la lesione può consistere in una protrusione del midollo spinale e delle meningi (mielomeningocele) o solo delle meningi (meningocele), con o senza un sacco che protrude in corrispondenza della lesione, fino al difetto più grave che consiste nella completa esposizione del midollo spinale per tutta la sua lunghezza (rachischisi). A seconda del tipo, delle dimensioni e della localizzazione del difetto, la malattia si associa a grave morbilità (di solito disfunzioni motorie, sensoriali e degli sfinteri) e a mortalità. La spina bifida occulta può essere asintomatica."},"nl":{"name":"Geïsoleerde spina bifida","definition":"Een groep van zeldzame neuralebuisdefecten, gekenmerkt door onjuiste sluiting van de wervelkolom tijdens de embryonale ontwikkeling, meestal niet geassocieerd met andere grote congenitale malformaties maar mogelijk met ventriculomegalie. De omvang van het sluitingsdefect kan variëren, gaande van spina bifida occulta, waarbij de plaats van de laesie niet is blootgesteld (bijvoorbeeld een geïsoleerd defect van een achterste wervelboog), tot spina bifida aperta, waarbij de laesie kan bestaan uit uitpuilend ruggenmerg en hersenvliezen (myelomeningocele) of blootstelling van enkel hersenvliezen (meningocele), met of zonder uitpuilende zak ter hoogte van de laesie, tot het meest ernstige defect met volledige blootstelling van ruggenmerg over de volledige lengte (rachischisis). Afhankelijk van het type, de omvang en de plaats van het defect, kunnen ernstige morbiditeit, doorgaans onder meer motorische en sensorische disfunctie en disfunctie van de sluitspier, en mortaliteit geassocieerd zijn. Spina bifida occulta kan asymptomatisch zijn."},"pt":{"name":"Espinha bífida","definition":"Grupo de anomalias raras de defeitos do tubo neural caracterizado pelo encerramento inadequado da coluna vertebral durante o desenvolvimento embrionário, geralmente não associado a outras malformações congénitas importantes, mas pode incluir ventriculomegalia. A extensão do defeito de encerramento pode variar, desde a espinha bífida oculta, na qual o local da lesão não está exposto (por exemplo, um defeito isolado do arco vertebral posterior), a espinha bífida aberta, na qual a lesão pode ser formada por medula espinal e meninges salientes (mielomeningocelo) ou exposição apenas das meninges (meningocelo), com ou sem saco saliente no local da lesão, até ao defeito mais grave, que inclui a exposição total da espinal medula em todo o seu comprimento (raquisquise). Dependendo do tipo, tamanho e local do defeito, podem coexistir graves morbilidades, que habitualmente inclui disfunção motora, sensorial e esfincteriana, e mortalidade. A espinha bífida oculta pode ser assintomática."},"pl":{"name":"Izolowany rozszczep kręgosłupa","synonyms":["Isolated spina bifida","Isolated spinal dysraphism"],"definition":"Grupa rzadkich wad cewy nerwowej charakteryzujących się nieprawidłowym zamknięciem kręgosłupa w czasie rozwoju embrionalnego, które zwykle nie są związane z innymi poważnymi wadami wrodzonymi, ale mogą obejmować powiększenie komór serca. Stopień nieprawidłowego zamknięcia może być różny, od utajonego rozszczepu kręgosłupa, w którym miejsce wady nie jest odsłonięte (np. izolowany ubytek tylnego łuku kręgowego), do otwartego rozszczepu kręgosłupa, w którym zmiana może mieć postać wystającego fragmentu rdzenia kręgowego i opon mózgowo-rdzeniowych (myelomeningocele) lub samych tylko opon mózgowo-rdzeniowych (meningocele), z workowatą wypustką w chorobowo zmienionym miejscu aż do najcięższej wady, która obejmuje całkowite odsłonięcie rdzenia kręgowego na całej jego długości. W zależności od rodzaju, wielkości i umiejscowienia wady, może wiązać się ona z poważnymi powikłaniami, zazwyczaj obejmującymi zaburzenia ruchowe, czuciowe oraz dysfunkcję, zmiana może być śmiertelna. Utajony rozszczep kręgosłupa może nie dawać objawów."},"cs":{"name":"Izolovaná spina bifida","synonyms":["Isolated spina bifida","Isolated spinal dysraphism"]},"uk":{"name":"Spina bifida та інші спинальні дизрафізми","synonyms":["Ізольоване розщеплення хребта","Ізольований спінальний диграфізм"],"definition":"A group of rare neural tube defect disorders characterized by improper closure of the spinal column during embryonal development that is usually not associated with other major congenital malformations but may include ventriculomegaly. The extent of the closure defect may vary, ranging from spina bifida occulta, in which the site of the lesion is not exposed (e.g. an isolated posterior vertebral arch defect), to spina bifida aperta, in which the lesion may be conformed of proturding spinal cord and meninges (myelomeningocele) or meninges exposure only (meningocele), with or without a proturding sac at the site of the lesion, to the most severe defect which includes total exposure of the spinal cord along its full length (rachischisis). Depending on the type, size and site of the defect, severe morbidity, typically inlcuding motor, sensory and sphincter dysfunction, and mortality may be associated. Spina bifida occulta may be asymptomatic."},"zh":{"name":"孤立型脊柱裂"},"tr":{"name":"İzole spina bifida"}},"xrefs":[{"source":"OMIM","code":"182940","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"301410","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601634","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-11","code":"LA02","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2036217905"},{"source":"MONDO","code":"0019351","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19351","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016135","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680973","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7673","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10041524","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":93968,"name":"Meningocele","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":268357,"name":"Neural tube closure defect","classifications":[147,156,181]}],"children":[{"orpha":645202,"name":"Closed spinal dysraphism","type":"Clinical group"},{"orpha":268369,"name":"Open spinal dysraphism","type":"Clinical group"},{"orpha":268744,"name":"Spinal dysraphism with a posterior meningocele","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":18.6,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2007-2011[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2007-2011[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":50.0,"area":"France","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":24.8,"area":"United States","status":"Validated","source":"22140002[PMID]_Center for Diseases Control and Prevention 19129744[OTHER]_ ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.8,"area":"Austria","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":17.5,"area":"Belgium","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.4,"area":"Croatia","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":21.3,"area":"Denmark","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":19.6,"area":"France","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":17.8,"area":"Germany","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":14.4,"area":"Hungary","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":50.6,"area":"Ireland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":12.7,"area":"Italy","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":24.9,"area":"Malta","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":17.5,"area":"Netherlands","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":14.7,"area":"Norway","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":24.4,"area":"Poland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":18.9,"area":"Portugal","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Spain","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":12.6,"area":"Switzerland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":13.1,"area":"United Kingdom","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":41.3,"area":"Ukraine","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"}],"phenotypes":null}