{"orpha":99856,"name":"Primary syringomyelia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital syringomyelia"],"definition":"A rare central nervous system malformation characterized by a fluid-filled longitudinally oriented cavity (syrinx) within the spinal cord, which may or may not communicate with the central canal, does not have an ependymal lining, and is either idiopathic or seen as a familial malformation. Clinical manifestations in symptomatic patients include neuropathic pain, as well as sensory and motor disturbances. Typical presentations may be cape-like loss of pain and temperature sensation along the torso and arms, or disproportionately greater motor impairment in upper compared to lower extremities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99856/","orphanet_url":"https://www.orpha.net/en/disease/detail/99856","names":{"fr":{"name":"Syringomyélie primaire","synonyms":["Syringomyélie congénitale"],"definition":"Malformation rare du système nerveux central caractérisée par une cavité remplie de liquide qui se fraie le chemin de manière longitudinale (syrinx) à l'intérieur de la moelle épinière, pouvant ou non communiquer avec le canal central, dépourvu de revêtement épendymaire. La malformation peut être soit idiopathique, soit considérée comme une malformation familiale. Les manifestations cliniques chez les patients symptomatiques sont des douleurs neuropathiques, ainsi que des troubles sensoriels et moteurs. Les présentations typiques peuvent être une perte de la sensibilité à la douleur et à la température le long du torse et des bras, ou des troubles moteurs disproportionnés dans les extrémités supérieures par rapport aux extrémités inférieures."},"de":{"name":"Syringomyelie, primäre","synonyms":["Syringomyelie, kongenitale"],"definition":"Eine seltene Fehlbildung des Zentralnervensystems, die durch einen flüssigkeitsgefüllten, längsgerichteten Hohlraum (Syrinx) innerhalb des Rückenmarks gekennzeichnet ist, der mit dem zentralen Kanal kommunizieren kann oder nicht, keine ependymale Auskleidung aufweist und entweder idiopathisch ist oder als familiäre Fehlbildung auftritt. Zu den klinischen Manifestationen bei symptomatischen Patienten gehören neuropathische Schmerzen sowie sensorische und motorische Störungen. Typisch sind ein umhangartiger Verlust des Schmerz- und Temperaturempfindens am Rumpf und an den Armen sowie eine unverhältnismäßig stärkere motorische Beeinträchtigung der oberen im Vergleich zu den unteren Extremitäten."},"es":{"name":"Siringomielia primaria","synonyms":["Siringomielia congénita"],"definition":"Es una malformación poco frecuente del sistema nervioso central caracterizada por una cavidad de orientación longitudinal llena de líquido (siringe) dentro de la médula espinal, que puede o no comunicarse con el canal central, que carece de un revestimiento ependimario y que puede ser idiopática o una malformación familiar. Las manifestaciones clínicas en pacientes sintomáticos incluyen dolor neuropático y alteraciones sensitivo-motoras. Las presentaciones típicas pueden ser una pérdida de la sensibilidad termoalgésica y al dolor distribuida en forma de capa a lo largo del torso y los brazos, o una afectación motora desproporcionadamente mayor en las extremidades superiores en relación a las inferiores."},"it":{"name":"Siringomielia primitiva","synonyms":["Siringomielia congenita"],"definition":"Si tratta di una malformazione rara del sistema nervoso centrale, caratterizzata da una cavità orientata longitudinalmente contenente liquido (siringa) all'interno del midollo spinale, che occasionalmente comunica con il canale centrale, ed è priva di rivestimento ependimale. La malformazione può essere idiopatica o familiare. I segni clinici nei pazienti sintomatici comprendono il dolore neuropatico e le alterazioni sensoriali e motorie. Di solito i pazienti perdono la sensibilità al dolore e alla temperatura con una distribuzione ''a mantello'' lungo il tronco e le braccia, oppure presentano un deficit motorio sproporzionatamente maggiore negli arti superiori rispetto a quelli inferiori."},"nl":{"name":"Primaire syringomyelie","synonyms":["Congenitale syringomyelie"],"definition":"Een zeldzame malformatie van centraal zenuwstelsel, gekarakteriseerd door een met vocht gevulde, longitudinaal georiënteerde holte (syrinx of buisvormige structuur) in ruggenmerg, die al dan niet kan communiceren met het centrale kanaal, die niet bekleed is met ependymcellen, en die ofwel idiopathisch of als familiale malformatie wordt waargenomen. Klinische manifestaties bij symptomatische patiënten zijn onder meer neuropathische pijn, alsook sensorische en motorische stoornissen. Mogelijke typische presentaties zijn verlies van pijn- en temperatuurzin ter hoogte van torso en armen, of disproportioneel ergere motorische stoornis in bovenste ledematen in vergelijking met onderste ledematen."},"pt":{"name":"Siringomielia, primária"},"pl":{"name":"Pierwotna jamistość rdzenia","synonyms":["Wrodzona jamistość rdzenia"]},"cs":{"name":"Primární syringomyelie","synonyms":["Vrozená syringomyelie"]},"uk":{"name":"Первинна сирингомієлія","synonyms":["Вроджена сирингомієлія"],"definition":"A rare central nervous system malformation characterized by a fluid-filled longitudinally oriented cavity (syrinx) within the spinal cord, which may or may not communicate with the central canal, does not have an ependymal lining, and is either idiopathic or seen as a familial malformation. Clinical manifestations in symptomatic patients include neuropathic pain, as well as sensory and motor disturbances. Typical presentations may be cape-like loss of pain and temperature sensation along the torso and arms, or disproportionately greater motor impairment in upper compared to lower extremities."},"zh":{"name":"原发性脊髓空洞症","synonyms":["先天性脊髓空洞症"],"definition":"原发性脊髓空洞症是一种罕见的中枢神经系统畸形，其特征是脊髓内有一个充满液体的纵向定向空腔(空洞)，可能与或不与中央管相通，没有室管膜衬里，特发性的或被视为家族性畸形。有症状的患者临床表现包括神经性疼痛，以及感觉和运动障碍。典型的症状可能是躯干和手臂的披肩样痛温觉丧失，或者与下肢相比，上肢的运动障碍不成比例地严重。"},"tr":{"name":"Primer siringomiyeli","synonyms":["Doğumsal siringomiyeli"]}},"xrefs":[{"source":"ICD-10","code":"Q06.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA07.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"257905685"},{"source":"MONDO","code":"0020508","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1299627","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":268871,"name":"OBSOLETE: Primary syringomyelia/hydromyelia","status":"inactive"},{"type":"Referred to","orpha":268874,"name":"OBSOLETE: Congenital hydromyelia","status":"inactive"}],"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":3280,"name":"Syringomyelia","classifications":[181]}],"children":[{"orpha":370034,"name":"Familial syringomyelia","type":"Clinical subtype"},{"orpha":99858,"name":"Idiopathic syringomyelia","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}