{"orpha":268861,"name":"Primary tethered cord syndrome","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Primary tethered spinal cord syndrome"],"definition":"Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-268861/","orphanet_url":"https://www.orpha.net/en/disease/detail/268861","names":{"fr":{"name":"Syndrome de la moelle attachée primaire","synonyms":["Fibrolipome du filum","Filum court et épais","Filum lipomateux","Syndrome de traction du cône terminal, forme primaire"],"definition":"Une malformation génétique congénitale du canal neurentérique, de la colonne vertébrale et de la moelle épinière, non syndromique. Elle se caractérise par une détérioration neurologique progressive (douleur, troubles sensorimoteurs, démarche anormale, diminution du tonus ou réflexes anormaux), des changements musculo-squelettiques (déformations et asymétrie des pieds, atrophie musculaire, faiblesse et engourdissement des membres, troubles de la marche, scoliose), et/ou des manifestations génito-urinaires (dysfonction intestinale et vésicale). Les stigmates cutanés de la région lombosacrée médiane sont fréquents dans la région lombosacrée médiane, et incluent des touffes de poils, des appendices cutanés, des fossettes, un lipome sous-cutané, une décoloration cutanée ou un hémangiome."},"de":{"name":"Tethered-Cord-Syndrom, primäres","synonyms":["Primäres Tethered-Spinal-Cord Syndrom"],"definition":"Das primäre Tethered-Cord-Syndrom ist eine genetisch bedingte, nicht-syndromale angeborene Fehlbildung des Nervenkanals, des Rückenmarks und der Wirbelsäule. Das Syndrom manifestiert sich durch eine fortschreitende neurologische Beeinträchtigung (Schmerzen, sensomotorische Defizite, abnormes Gangbild, verminderter Tonus oder abnorme Reflexe), muskuloskelettale Veränderungen (Fußdeformitäten und Asymmetrie, Muskelschwund, Gliedmaßenschwäche und Taubheit, Gangstörungen, Skoliose) und/oder urogenitale Manifestationen (Blasen- und Darmfunktionsstörungen). Kutane Stigmata der Mittellinie im lumbosakralen Bereich, wie Haartüpfel, Hautanhängsel, Grübchen, subkutane Lipome, Hautverfärbungen oder Hämangiome, sind häufig assoziiert."},"es":{"name":"Síndrome de médula anclada primario","synonyms":["Síndrome primario de médula espinal anclada"],"definition":"El síndrome primario de médula anclada es una malformación genética congénita no sindrómica del canal neurentérico, la médula espinal y la columna caracterizado por un deterioro neurológico progresivo (dolor, déficits sensitivomotores, alteración de la marcha, disminución del tono o reflejos alterados), cambios musculoesqueléticos (malformaciones y asimetría de los pies, atrofia muscular, debilidad y adormecimiento de las extremidades, escoliosis) y/o manifestaciones genitourinarias (disfunción vesical e intestinal). Se asocian con frecuencia lesiones cutáneas de la línea media en la región lumbosacra, tales como mechones de pelo, apéndices cutáneos, hoyuelos, lipomas subcutáneos, decoloración de la piel o hemangiomas."},"it":{"name":"Sindrome primitiva del midollo ancorato","synonyms":["Sindrome primitiva del midollo spinale ancorato"],"definition":"La sindrome primitiva del midollo ancorato è una malformazione congenita non sindromica, di origine genetica, del canale neuroenterico, del midollo spinale e della colonna. È caratterizzata dal progressivo deterioramento neurologico (dolore, deficit sensitivo-motorio, anomalie della deambulazione, riduzione del tono o riflessi anomali), alterazioni muscolo-scheletriche (deformità e asimmetria dei piedi, atrofia muscolare, debolezza e insensibilità agli arti, anomalie della deambulazione, scoliosi) e/o sintomi a livello dell'apparato genito-urinario (disfunzioni vescicali e intestinali). Spesso sono presenti segni clinici a carico della cute sulla linea mediana nella regione lombo-sacrale (ciuffi di peli, appendici cutanee, avvallamenti, lipomi sottocutanei, depigmentazione cutanea, emangiomi)."},"nl":{"name":"Primaire gekluisterde conus-syndroom","synonyms":["Primair 'tethered cord'-syndroom","Primair gekluisterd ruggenmerg-syndroom"],"definition":"Primaire gekluisterde conus-syndroom is een genetische, niet-syndromale congenitale malformatie van het neurenterisch kanaal, het ruggenmerg en de wervelkolom, en wordt gekarakteriseerd door progressieve neurologische aftakeling (pijn, sensomotorische beperkingen, abnormale gang, verminderde tonus of abnormale reflexen), musculoskeletale veranderingen (misvormingen en asymmetrie van de voeten, spieratrofie, zwakte en gevoelloosheid van de ledematen, gangstoornissen, scoliose) en/of genito-urinaire manifestaties (blaas- en darmdisfunctie). Cutane stigmata langs de middellijn in de lumbosacrale regio, zoals plukjes haar, huidaanhangsels, kuiltjes, onderhuidse lipomen, verkleuring van de huid of hemangiomen, zijn frequent geassocieerd."},"pt":{"name":"Síndrome da medula ancorada, primário","synonyms":["Síndrome da medula espinhal ancorado, primário"]},"pl":{"name":"Pierwotny zespół zakotwiczenia rdzenia kręgowego","synonyms":["Primary tethered spinal cord syndrome"]},"cs":{"name":"Primární tethered cord syndrom","synonyms":["Primární tethered spinal cord syndrom","Primární syndrom fixované míchy"]},"uk":{"name":"Первинний синдром привязаного канатика","synonyms":["Первинний синдром привязаного спинного мозку"],"definition":"Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated."},"zh":{"name":"原发性脊髓栓系综合征","synonyms":["原发性脊髓栓系综合征"],"definition":"原发性脊髓栓系综合征是一种神经肠管、脊髓和脊柱的遗传性、非综合征性先天性畸形，其特征为进行性神经功能恶化(疼痛、感觉运动缺陷、步态异常、紧张度降低或反射异常)、肌肉骨骼变化(足部畸形和不对称、肌肉萎缩、四肢无力和麻木、步态障碍、脊柱侧凸)和/或泌尿生殖系统表现(膀胱和肠道功能障碍)。腰骶部的中线皮肤红斑，如发束、皮肤附件、酒窝、皮下脂肪瘤、皮肤变色或血管瘤，经常与此相关。"},"tr":{"name":"Primer bağlı kord sendromu","synonyms":["Primer gergin omurilik sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q06.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA07.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"66705662"},{"source":"MONDO","code":"0017086","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4708602","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4018","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}