{"orpha":268369,"name":"Open spinal dysraphism","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Open spina bifida","Spina bifida aperta"],"definition":"A rare neural tube closure defect characterized by a skin defect with exposed neural tissue in the area of the spinal column, with or without a protruding sac at the location of the defect. Signs and symptoms are variable depending on the content (only meninges or also spinal cord tissue), location, and severity of the lesion, but may include motor, sensory, and/or sphincter dysfunction, hydrocephalus, and/or skeletal anomalies (e. g. scoliosis, hemivertebrae), among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-268369/","orphanet_url":"https://www.orpha.net/en/disease/detail/268369","names":{"fr":{"name":"Dysraphisme spinal ouvert","synonyms":["Spina bifida aperta","Spina bifida ouvert"],"definition":"Défaut rare de fermeture du tube neural caractérisé par une anomalie cutanée avec exposition du tissu neural dans la région de la colonne vertébrale, avec ou sans sac de protubérance au site de la lésion. Les signes et les symptômes varient en fonction de la constitution de la protubérance (englobant seules les méninges ou incluant aussi le tissu de la moelle épinière), de la localisation et de la gravité de la lésion, mais peuvent inclure un dysfonctionnement moteur, sensoriel et/ou sphinctérien, une hydrocéphalie et/ou des anomalies squelettiques (par exemple, une scoliose, une hémivertèbre), entre autres."},"de":{"name":"Spinale Dysraphie, offene","synonyms":["Spina bifida aperta"],"definition":"Ein seltener Neuralrohrverschlussdefekt, der durch einen Hautdefekt mit freiliegendem Nervengewebe im Bereich der Wirbelsäule gekennzeichnet ist, mit oder ohne vorstehende Aussackung an der Stelle des Defekts. Anzeichen und Symptome sind je nach Inhalt (nur Hirnhaut oder auch Rückenmarksgewebe), Lage und Schwere der Läsion variabel, können aber u. a. motorische, sensorische und/oder Sphinkter-Funktionsstörungen, Hydrozephalus und/oder Skelettanomalien (z. B. Skoliose, Halbwirbel) umfassen."},"es":{"name":"Espina bífida abierta","definition":"Es un defecto poco frecuente de cierre del tubo neural caracterizado por un defecto cutáneo con exposición del tejido neural en el área de la lesión en la columna vertebral con o sin un saco prominente. Los signos y síntomas varían según el contenido (sólo meninges o también tejido de la médula espinal), la localización y la gravedad de la lesión, aunque pueden incluir disfunción motora, sensitiva y/o esfinteriana, hidrocefalia y/o anomalías esqueléticas (p. ej. escoliosis, hemivértebras), entre otros."},"it":{"name":"Spina bifida aperta","definition":"Si tratta di un difetto raro di chiusura del tubo neurale, caratterizzato da un difetto cutaneo con esposizione del tessuto neurale nella zona della colonna vertebrale, con o senza un sacco che protrude in corrispondenza del difetto. I segni clinici sono variabili e dipendono dal contenuto (solo meningi o anche tessuto del midollo spinale), dalla localizzazione e dalla gravità della lesione e possono comprendere la disfunzione motoria, sensoriale e/o degli sfinteri, l'idrocefalo e/o le anomalie scheletriche (ad es. scoliosi ed emivertebre)."},"nl":{"name":"Spina bifida aperta","definition":"Een zeldzaam sluitingsdefect van de neurale buis gekarakteriseerd door een huiddefect met blootgesteld neuraal weefsel ter hoogte van de wervelkolom, met of zonder een uitpuilende zak op de plaats van het defect. Tekenen en symptomen zijn variabel afhankelijk van de inhoud (enkel hersenvliezen of ook ruggenmergweefsel), locatie, en ernst van het letsel, maar omvat mogelijk onder meer motorische, sensorische, en/of sfincterdisfunctie, hydrocefalie, en/of skeletanomalieën (e.g. scoliose, hemivertebrae)."},"pt":{"name":"Espinha bífida aberta"},"pl":{"name":"Otwarty rozszczep kręgosłupa","synonyms":["Open spina bifida","Spina bifida aperta"]},"cs":{"name":"Spina bifida aperta","synonyms":["Open spina bifida","Spina bifida aperta"]},"uk":{"name":"Відкритий спінальний дизрафізм","synonyms":["Відкрита spina bifida","Spina bifida aperta"],"definition":"A rare neural tube closure defect characterized by a skin defect with exposed neural tissue in the area of the spinal column, with or without a protruding sac at the location of the defect. Signs and symptoms are variable depending on the content (only meninges or also spinal cord tissue), location, and severity of the lesion, but may include motor, sensory, and/or sphincter dysfunction, hydrocephalus, and/or skeletal anomalies (e. g. scoliosis, hemivertebrae), among others."},"zh":{"name":"开放性脊柱裂","definition":"一种罕见的神经管闭合缺损，其特征是脊柱区域有伴随神经组织暴露的皮肤缺损，在缺损部位有或没有突出的囊。体征和症状根据病变的内容(仅脑膜或脊髓组织)、位置和严重程度而不同，但可能包括运动、感觉和/或括约肌功能障碍、脑积水和/或骨骼异常(如脊柱侧凸、半椎体)等。"},"tr":{"name":"Spina bifida aperta"}},"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":"E","icd_relation":"specific","validated":true,"icd11_uri":"187581000"},{"source":"MONDO","code":"0017062","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17062","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0917813","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":268377,"name":"OBSOLETE: Total spina bifida aperta","status":"inactive"},{"type":"Referred to","orpha":268384,"name":"OBSOLETE: Thoracolumbosacral spina bifida aperta","status":"inactive"},{"type":"Referred to","orpha":268388,"name":"OBSOLETE: Lumbosacral spina bifida aperta","status":"inactive"},{"type":"Referred to","orpha":268392,"name":"OBSOLETE: Cervical spina bifida aperta","status":"inactive"},{"type":"Referred to","orpha":268397,"name":"OBSOLETE: Cervicothoracic spina bifida aperta","status":"inactive"},{"type":"Referred to","orpha":268740,"name":"OBSOLETE: Upper thoracic spina bifida aperta","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":823,"name":"Spina bifida and other spinal dysraphisms","classifications":[147,156,181]}],"children":[{"orpha":645398,"name":"Myeloschisis","type":"Morphological anomaly"},{"orpha":645270,"name":"Open 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":51.5,"area":"Germany","status":"Validated","source":"2785614[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":50.0,"area":"France","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":400.0,"area":"Ireland","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":62.0,"area":"Latin America","status":"Validated","source":"3907353[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":">1 / 1000","value":400.0,"area":"United Kingdom","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}