{"orpha":699683,"name":"Fibro-adipose vascular anomaly","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FAVA","Fibro-fatty vascular anomaly","Fibroadipose vascular anomaly"],"definition":"A rare vascular malformation characterized by fibro-adipose and venous tissue with diffuse muscle infiltration and extension along fascial planes, most often affecting the calf and forearm. Major clinical features include severe and persistent pain, phlebectasia, contractures, joint deformity as well as muscle atrophy. The skin is usually unremarkable.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-699683/","orphanet_url":"https://www.orpha.net/en/disease/detail/699683","names":{"fr":{"name":"Anomalie vasculaire fibro-adipeuse","synonyms":["FAVA"],"definition":"Malformation vasculaire rare caractérisée par la présence de tissu fibro-adipeux et veineux intramusculaire diffus s'étendant le long des plans fasciaux, touchant le plus souvent le mollet et l'avant-bras. Les principales caractéristiques cliniques sont une douleur intense et persistante, une phlébectasie, des contractures, une déformation articulaire ainsi qu'une atrophie musculaire. La peau n'est généralement pas affectée."},"de":{"name":"Fibro-adipöse vaskuläre Anomalie","synonyms":["FAVA"],"definition":"Eine seltene vaskuläre Fehlbildung, die durch fibro-adipöses und venöses Gewebe mit diffuser Muskelinfiltration und Ausdehnung entlang der Faszienebenen gekennzeichnet ist und am häufigsten die Wade und den Unterarm betrifft. Zu den wichtigsten klinischen Merkmalen zählen starke und anhaltende Schmerzen, Phlebektasie, Kontrakturen, Gelenkfehlbildungen sowie Muskelatrophie. Die Haut ist in der Regel unauffällig."},"es":{"name":"Anomalía vascular fibroadiposa","synonyms":["AVFA","FAVA"],"definition":"Es una malformación vascular poco frecuente caracterizada por tejido fibroadiposo y venoso con infiltración muscular difusa y extensión a lo largo de los planos fasciales, afectando con mayor frecuencia a la pantorrilla y al antebrazo. Las principales características clínicas incluyen dolor intenso y persistente, flebectasia, contracturas, deformidad articular y atrofia muscular. La piel no suele presentar alteraciones notables."},"it":{"name":"Anomalia vascolare fibro-adiposa","synonyms":["FAVA","Anomalia vascolare fibro-adiposa","Anomalia vascolare fibroadiposa"]},"nl":{"name":"Fibroadipeuze vasculaire anomalie","synonyms":["FAVA"],"definition":"Een zeldzame vasculaire malformatie, gekenmerkt door fibroadipeus en veneus weefsel met diffuse infiltratie van spier en extensie langs bindweefsellagen, doorgaans met aantasting van kuit en onderarm. Voorname klinische kenmerken zijn ernstige en aanhoudende pijn, flebectasie, contracturen, misvorming van gewrichten en spieratrofie. De huid is meestal normaal."},"pt":{"name":"Fibro-adipose vascular anomaly"},"pl":{"name":"Fibro-adipose vascular anomaly","synonyms":["FAVA","Fibro-fatty vascular anomaly","Fibroadipose vascular anomaly"]},"cs":{"name":"Fibro-adipose vascular anomaly","synonyms":["FAVA","Fibro-fatty vascular anomaly","Fibroadipose vascular anomaly"]}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":715334,"name":"Unifocal peripheral venous malformation","classifications":[147,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}