{"orpha":93969,"name":"Open spinal dysraphism with a myelomeningocele","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["MMC","Myelomeningocele"],"definition":"A rare form of spina bifida cystica (saccular, open neural tube defect (NTD)) characterized by a non-neurulated spinal cord (neural placode) on the surface of the cystic extension of dysplastic meninges (non-epidermised posterior meningocele). The spinal cord extends through a spina bifida (posterior vertebral defect) with typically everted or parallel laminae. Nerve roots are connected to the borders of the neural placode and are visible inside the sac. Myelomeningocele is characteristically associated with a Chiari II malformation. It can be either isolated or associated with split cord malformation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93969/","orphanet_url":"https://www.orpha.net/en/disease/detail/93969","names":{"fr":{"name":"Dysraphisme spinal ouvert associé à une myéloméningocèle","synonyms":["MMC","Myéloméningocèle"],"definition":"Forme rare de spina bifida cystica (anomalie sacculaire et ouverte du tube neural) caractérisée par une placode neurale (défaut de neurulation de la moelle épinière) à la surface d'une méningocèle postérieure non épidermisée (extension kystique de méninges dysplasiques). La moelle épinière s'étend à travers un spina bifida (anomalie vertébrale postérieure) avec des lames typiquement éversées ou parallèles. Les racines nerveuses sont connectées aux bords de la placode neurale et sont visibles à l'intérieur du sac. La myéloméningocèle est typiquement associée à une malformation de Chiari II. Elle peut être soit isolée, soit associée à un dédoublement de la moelle épinière."},"de":{"name":"Offene spinale Dysraphie mit Myelomeningozele","synonyms":["MMC","Myelomeningozele"],"definition":"Seltene Form der zystischen Spina bifida (sakkuläre und offene Anomalie des Neuralrohrs), die durch eine Neuralplakode (Neurulationsdefekt des Rückenmarks) auf der Oberfläche einer nicht epidermisierten hinteren Meningozele (zystische Ausdehnung dysplastischer Meningen) gekennzeichnet ist. Das Rückenmark verläuft durch eine Spina bifida (posteriorer Wirbeldefekt) mit typischerweise evertierten oder parallelen Laminae. Die Nervenwurzeln sind mit den Rändern der Neuralplatte verbunden und sind im Inneren des Sacks sichtbar. Die Myelomeningozele ist typischerweise mit einer Chiari-II-Malformation verbunden. Sie kann entweder isoliert oder mit einer Aufspaltung des Rückenmarks verbunden sein."},"es":{"name":"Disrafismo espinal abierto con mielomeningocele","synonyms":["MMC","Mielomeningocele"],"definition":"Es una forma poco frecuente de espina bífida quística (defecto del tubo neural (DTN) abierto sacular) caracterizada por una médula espinal no neurulada (placoda neural) en la superficie de la extensión quística de las meninges displásicas (meningocele posterior no epidermizado). La médula espinal se extiende a través de una espina bífida (defecto vertebral posterior) con láminas típicamente evertidas o paralelas. Las raíces nerviosas están conectadas a los bordes de la placoda neural y son visibles dentro del saco. El mielomeningocele se asocia característicamente con una malformación de Chiari II. Puede estar aislado o asociado a una malformación del cordón umbilical."},"it":{"name":"Disrafismo spinale aperto con mielomeningocele","synonyms":["MMC","Mielomeningocele"],"definition":"Si tratta di una forma rara di spina bifida aperta, caratterizzata dalla protrusione del midollo spinale e delle meningi dalla colonna vertebrale in un sacco contenente liquido, localizzato in corrispondenza del difetto, che esita nella chiusura incompleta del tubo neurale primitivo. I segni clinici sono variabili e dipendono dalla localizzazione e dalla gravità della lesione, e comprendono la disfunzione dell'intestino e della vescica, l'idrocefalo e/o la paralisi parziale o completa degli arti inferiori."},"nl":{"name":"Open spinale dysrafie met myelomeningocele","synonyms":["MMC","Myelomeningocele"],"definition":"Een zeldzame vorm van spina bifida cystica (sacculair, neuralebuisdefect (NBD)), gekenmerkt door een ruggenmerg dat geen neurulatie onderging (neurale placode) op het oppervlak van de cystische extensie van dysplastische meningen (niet met epidermis beklede posterieure meningocele). Het ruggenmerg strekt zich uit door een spina bifida (posterieur vertebraal defect) met typische geëverteerde of parallelle lamellen. Zenuwwortels zijn verbonden met de randen van de neurale placode en zijn zichtbaar in de zak. Myelomeningocele is typisch geassocieerd met een Chiari II-malformatie. Het kan geïsoleerd voorkomen of geassocieerd zijn met gespleten ruggenmerg-malformatie."},"pt":{"name":"Disrafismo medular aberto com mielomeningocelo","synonyms":["MMC","Mielomeningocelo"],"definition":"Forma rara de espinha bífida quística (defeito do tubo neural (DTN) aberto, sacular) caracterizada por uma medula espinhal não neurulada (placóide neural) na superfície da extensão quística de meninges displásicas (meningocele posterior não epidermizada). A medula espinhal estende-se através de uma espinha bífida (defeito vertebral posterior) com lâminas tipicamente evertidas ou paralelas. As raízes nervosas são conectadas às bordas do placóide neural e são visíveis dentro do saco. A mielomeningocele é caracteristicamente associada a malformação de Chiari II. Pode ser isolada ou associada à malformação da medula dividida."},"pl":{"name":"Przepuklina oponowo-rdzeniowa","synonyms":["Otwarta wada dysraficzna kręgosłupa z przepukliną oponowo-rdzeniową"],"definition":"Rzadka postać torbielowatego rozszczepu kręgosłupa (workowaty, otwarty defekt cewy nerwowej) charakteryzująca się nieneurulowanym rdzeniem kręgowym (plakodem nerwowym) na powierzchni torbielowatego przedłużenia dysplastycznych opon (niepokryta naskórnej przepuklina oponowa tylna). Rdzeń kręgowy przechodzi przez rozszczep kręgosłupa (tylna wada kręgów) z typowo wywiniętymi lub równoległymi blaszkami. Korzenie nerwowe są połączone z granicami łożyska nerwowego i są widoczne wewnątrz worka. Przepuklina oponowo-rdzeniowa jest w sposób charakterystyczny powiązana z malformacją Chiariego II. Może być izolowana lub związana z wadą rozszczepową rdzenia."},"cs":{"name":"Meningomyelokéla","synonyms":["MMC","Myelomeningocele"]},"uk":{"name":"Відкрита спінальна дизрафія з мієломенінгоцеле","synonyms":["MMC","Мієломенінгоцеле"],"definition":"A rare form of spina bifida cystica (saccular, open neural tube defect (NTD)) characterized by a non-neurulated spinal cord (neural placode) on the surface of the cystic extension of dysplastic meninges (non-epidermised posterior meningocele). The spinal cord extends through a spina bifida (posterior vertebral defect) with typically everted or parallel laminae. Nerve roots are connected to the borders of the neural placode and are visible inside the sac. Myelomeningocele is characteristically associated with a Chiari II malformation. It can be either isolated or associated with split cord malformation."},"zh":{"name":"脊髓脊膜膨出","definition":"一种罕见的神经管闭合缺陷，其特征是脊髓和脑膜在缺损处从脊柱突出到一个充满液体的囊中。根据病变的部位和严重程度，临床症状各不相同，但可能包括膀胱和肠道功能障碍、脑积水和/或下肢部分性或完全性瘫痪等。"},"tr":{"name":"Miyelomeningosel"}},"xrefs":[{"source":"ICD-10","code":"Q05.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"Q05.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"Q05.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"Q05.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"Q05.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"Q05.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"Q05.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"Q05.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"Q05.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"Q05.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA02.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019773","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5781264","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3475","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1136,"name":"OBSOLETE: Arnold-Chiari malformation type II","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":645270,"name":"Open spinal dysraphism with a posterior meningocele","classifications":[147,156,181]}],"children":[{"orpha":645388,"name":"Hemi-myelomeningocele","type":"Clinical subtype"},{"orpha":645383,"name":"True myelomeningocele","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}