{"orpha":53721,"name":"Spinal arteriovenous metameric syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cobb syndrome","Cutaneomeningospinal angiomatosis","SAMS 1-31"],"definition":"Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-53721/","orphanet_url":"https://www.orpha.net/en/disease/detail/53721","names":{"fr":{"name":"Syndrome métamérique artérioveineux spinal","synonyms":["Angiomatose cutanéoméningospinale","SAMS 1-31","Syndrome de Cobb"],"definition":"Le syndrome de Cobb est défini par l'association de lésions vasculaires localisées sur le territoire cutané (lésions veinulaires ou artérioveineuses), musculaire (artérioveineuses), osseux (artérioveineuses) et médullaire (artérioveineuses) d'un même métamère ou segment rachidien. Cette disposition segmentaire peut impliquer un ou plusieurs des 31 métamères existants chez l'homme. Seulement 16% des lésions médullaires sont multiples et présentent une disposition clairement métamérique."},"de":{"name":"Spinales arteriovenöses metameres Syndrom","synonyms":["Angiomatose, kutaneomeningospinale","Cobb-Syndrom","SAMS 1-31"],"definition":"Das Cobb-Syndrom ist definiert als die Assoziation von venösen oder arterio-venösen Gefäßläsionen der Haut und arterio-venösen Läsionen der Muskeln, Knochen und Medulla, alle diese im gleichen Metamer oder spinalen Segment. Diese segmentale Verteilung kann sich auf eines oder auch mehrere der 31 beim Menschen vorhandenen Metamere erstrecken. Nur 16% der medullären Läsionen sind vielfach und haben eine klare metamere Verteilung."},"es":{"name":"Síndrome arteriovenoso metamérico espinal","synonyms":["Angiomatosis cutáneo-meningo-espinal","SAMS 1-31","Síndrome de Cobb"],"definition":"El síndrome de Cobb se define por la asociación de lesiones vasculares cutáneas (venosas o arteriovenosas), musculares (arteriovenosas), óseas (arteriovenosas) y medulares (arteriovenosas) en un mismo metámero o segmento de la médula espinal. Esta distribución segmentaria puede involucrar uno o muchos de los 31 metámeros presentes en humanos. Sólo el 16% de las lesiones medulares son múltiples y tienen una distribución claramente metamérica."},"it":{"name":"Sindrome di Cobb"},"nl":{"name":"Spinaal arterioveneus metamerisch syndroom","synonyms":["Cutaneomeningospinale angiomatose","SAMS 1-31","Syndroom van Cobb"],"definition":"Syndroom van Cobb wordt gekenmerkt door de associatie van vasculaire cutane (veneuze of arterioveneuze), musculaire (arterioveneuze), ossale (arterioveneuze) en medullaire (arterioveneuze) laesies ter hoogte van hetzelfde metameer of spinale segment. Deze segmentale verdeling kan zich uitstrekken over één tot vele van de 31 metameren die aanwezig zijn bij mensen. Slechts 16% van de medullaire laesies is meervoudig en heeft een duidelijke metamere verdeling."},"pt":{"name":"Síndrome arteriovenoso metamérico espinhal","synonyms":["Angiomatose cutaneo-meningo-espinhal","Síndrome Cobb"]},"pl":{"name":"Zespół rdzeniowy tętniczo-żylny metameryczny","synonyms":["Angiomatoza skórno-oponowo-rdzeniowa","SAMS 1-31","Zespół rdzeniowy tętniczo-żylny metameryczny"]},"cs":{"name":"Cobbův syndrom","synonyms":["Kutaneomeningospinální angiomatóza","SAMS 1-31","Spinální arteriovenózní metamerický syndrom"]},"uk":{"name":"Спінальний артеріовенозний метамерний синдром","synonyms":["Синдром Кобба","Кутанеоменінгоспінальний ангіоматоз","SAMS 1-31"],"definition":"Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution."},"zh":{"name":"脊髓动静脉节段综合征","synonyms":["皮肤脑脊膜血管瘤病"]},"tr":{"name":"Spinal arteriyovenöz metamerik sendrom","synonyms":["SAMS 1-31","Cobb sendromu","Kutanomeningospinal anjiyomatoz"]}},"xrefs":[{"source":"ICD-10","code":"Q27.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA90.3Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1451924695"},{"source":"MONDO","code":"0018893","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0346068","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11892","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10068841","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":715757,"name":"Metameric fast-flow vascular malformation","classifications":[147,181,198]},{"orpha":79379,"name":"Skin vascular disease","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":45.0,"area":"Worldwide","status":"Validated","source":"26130930[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26130930[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"20805687[PMID]_21519966[PMID]","terms":[{"hpo":"HP:0002143","label":"Abnormality of the spinal cord","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000925","label":"Abnormality of the vertebral column","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100026","label":"Arteriovenous malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001052","label":"Nevus flammeus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002385","label":"Paraparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002390","label":"Spinal arteriovenous malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002839","label":"Urinary bladder sphincter dysfunction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100761","label":"Visceral angiomatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006773","label":"Cutaneous angiolipomas","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001014","label":"Angiokeratoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100758","label":"Gangrene","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100764","label":"Lymphangioma","frequency":"Occasional (29-5%)","criteria":null}]}}