{"orpha":90308,"name":"Capillary-lymphatic-venous malformation with segmental distribution","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CLVM with segmental distribution","KTS","Klippel-Trénaunay syndrome"],"definition":"A rare congenital complex vascular malformation syndrome characterized by capillary malformations manifesting as wine stains and venous varicosities typically prominent along the lateral aspect of the lower extremities, associated with overgrowth of a limb (most commonly a leg, less frequently other regions of the body), involving bone and/or soft tissues. The diagnosis is usually made in presence of at least two of these three features. Lymphatic malformations are also observed, while arteriovenous fistulas are absent. Patients present recurrent painful thrombophlebitis, venous thrombosis, and sudden venous hemorrhage.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90308/","orphanet_url":"https://www.orpha.net/en/disease/detail/90308","names":{"fr":{"name":"Malformation capillaro-lymphatico-veineuse avec distribution segmentaire","synonyms":["KTS","MCLV avec distribution segmentaire","Syndrome de Klippel-Trénaunay"],"definition":"Malformation vasculaire complexe congénitale rare caractérisée par des malformations capillaires se manifestant par des angiomes et des varicosités veineuses (généralement le long de la face latérale des extrémités inférieures), associées à une croissance excessive d'un membre (le plus souvent une jambe, moins fréquemment d'autres parties du corps), et affectant les os et/ou les tissus mous. Le diagnostic repose habituellement sur la présence d'au moins deux de ces trois manifestations. Des malformations lymphatiques sont également observées, en l'absence de fistules artérioveineuses. Les patients présentent une thrombophlébite douloureuse récurrente, une thrombose veineuse et une hémorragie veineuse soudaine."},"de":{"name":"Klippel-Trénaunay-Syndrom","synonyms":["CLVM mit segmentaler Verteilung","KTS","Kapillär-lymphatisch-venöse Malformation mit Extremitätenhyperplasie","Kombinierte kapillär-venolymphatische Fehlbildung mit Extremitätenvergrößerung"],"definition":"Ein seltenes kongenitales komplexes vaskuläres Fehlbildungssyndrom, das durch kapillare Fehlbildungen gekennzeichnet ist, die sich in Form von Portenweinflecken und venösen Varizen manifestieren, die typischerweise an der Seite der unteren Extremitäten hervortreten und mit dem Überwachsen einer Gliedmaße (meist eines Beins, seltener anderer Körperregionen) einhergehen und Knochen und/oder Weichteile betreffen. Die Diagnose wird in der Regel bei Vorliegen von mindestens zwei dieser drei Merkmale gestellt. Lymphatische Fehlbildungen werden ebenfalls beobachtet, während arteriovenöse Fisteln nicht vorkommen. Die Patienten leiden unter wiederkehrenden schmerzhaften Thrombophlebitiden, Venenthrombosen und plötzlichen Venenblutungen."},"es":{"name":"Malformación capilar-linfático-venosa con distribución segmentaria","synonyms":["CLVM con distribución segmentaria","SKT","Síndrome de Klippel-Trénaunay"],"definition":"Es un síndrome congénito poco frecuente de malformación vascular compleja caracterizado por malformaciones capilares que se manifiestan como manchas de vino y venas varicosas típicamente prominentes a lo largo de la cara lateral de las extremidades inferiores, asociadas al sobrecrecimiento de una extremidad (más comúnmente una pierna y, con menor frecuencia, de otras regiones del cuerpo), afectando a huesos y/o tejidos blandos. El diagnóstico suele realizarse en presencia de al menos dos de estas tres características. También se observan malformaciones linfáticas, pero no fístulas arteriovenosas. Los pacientes presentan tromboflebitis dolorosa recurrente, trombosis venosa y hemorragia venosa súbita."},"it":{"name":"Sindrome di Klippel-Trénaunay"},"nl":{"name":"Capillaire-lymfatische-veneuze malformatie met segmentale distributie","synonyms":["CLVM met segmentale distributie","KTS","Syndroom van Klippel-Trénaunay"],"definition":"Een zeldzaam congenitaal syndroom van complexe vasculaire malformatie, gekenmerkt door capillaire malformaties die zich manifesteren als wijnvlekken en spataders, doorgaans prominent aanwezig op het laterale deel van de onderste extremiteiten, geassocieerd met overgroei van een ledemaat (meestal een been, minder vaak andere lichaamsdelen), met betrokkenheid van bot en/of weke delen. De diagnose wordt doorgaans gesteld in aanwezigheid van minstens twee van deze drie kenmerken. Malformaties van lymfestelsel worden ook waargenomen, terwijl arterioveneuze fistels afwezig zijn. Patiënten vertonen recidiverende pijnlijke tromboflebitis, veneuze trombose, en plotse veneuze hemorragie."},"pt":{"name":"Malformação capilar-linfático-venosa com distribuição segmentar","synonyms":["CLVM com distribuição segmentar","KTS","Síndrome Klippel-Trénaunay"],"definition":"Síndrome rara de malformação vascular complexa congénita caracterizada por malformações capilares que se manifestam como manchas de vinho e varicosidades venosas tipicamente proeminentes ao longo do aspecto lateral das extremidades inferiores, associadas ao crescimento excessivo de um membro (mais comumente uma perna, menos frequentemente outras regiões do corpo), envolvendo osso e/ou tecidos moles. O diagnóstico geralmente é feito na presença de pelo menos duas dessas três características. Malformações linfáticas também são observadas, enquanto fístulas arteriovenosas estão ausentes. Os doentes apresentam tromboflebite dolorosa recorrente, trombose venosa e hemorragia venosa súbita."},"pl":{"name":"Zespół Klippla i Trénaunaya","synonyms":["CLVM with segmental distribution","KTS","Klippel-Trénaunay syndrome"],"definition":"Rzadki wrodzony zespół złożonych malformacji naczyniowych charakteryzujący się malformacjami naczyń włosowatych, które manifestują się jako naczyniaki płaskie i żylakowatość żylna, typowo widoczne wzdłuż bocznej powierzchni kończyn dolnych oraz przerostem kończyny (najczęściej dolnej), rzadziej innych okolic ciała, obejmującym kości i/lub tkanki miękkie. Diagnozę zwykle stawia się na podstawie obecności co najmniej 2 z tych 3 cech. Obserwuje się także malformacje limfatyczne, ale nie ma przetok tętniczo-żylnych. Może wystąpić nawracające bolesne zakrzepowe zapalenie żył, zakrzepica żylna lub nagły krwotok żylny."},"cs":{"name":"Klippelova-Trenaunayova nemoc","synonyms":["Klippel-Trenaunayova nemoc"]},"uk":{"name":"Синдром Кліппеля-Треноне","definition":"A rare congenital complex vascular malformation syndrome characterized by capillary malformations manifesting as wine stains and venous varicosities typically prominent along the lateral aspect of the lower extremities, associated with overgrowth of a limb (most commonly a leg, less frequently other regions of the body), involving bone and/or soft tissues. The diagnosis is usually made in presence of at least two of these three features. Lymphatic malformations are also observed, while arteriovenous fistulas are absent. Patients present recurrent painful thrombophlebitis, venous thrombosis, and sudden venous hemorrhage."},"zh":{"name":"Klippel-TrÚnaunay综合征"},"tr":{"name":"Klippel-Trènaunay sendromu"}},"xrefs":[{"source":"OMIM","code":"149000","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD26.60","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1477539224"},{"source":"UMLS","code":"C5848351","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10051452","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":329324,"name":"Inverse Klippel-Trénaunay syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":459537,"name":"Genetic complex vascular malformation with associated anomalies","classifications":[156]},{"orpha":183478,"name":"Genetic skin vascular disorder","classifications":[156]},{"orpha":98196,"name":"Malformation syndrome with hamartosis","classifications":[147,156]},{"orpha":728584,"name":"PIK3CA-related overgrowth spectrum disorder with vascular malformation","classifications":[147,198]},{"orpha":79379,"name":"Skin vascular disease","classifications":[187]},{"orpha":715460,"name":"Syndromic geographic pattern capillary malformation","classifications":[147,198]},{"orpha":723261,"name":"Syndromic venous malformation","classifications":[147,198]}],"children":[],"genes":[{"symbol":"PIK3CA","name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"26268729[PMID]","hgnc":"8975","ensembl":"ENSG00000121879","omim":"171834","loci":["3q26.32"]},{"symbol":"AGGF1","name":"angiogenic factor with G-patch and FHA domains 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"18564129[PMID]","hgnc":"24684","ensembl":"ENSG00000164252","omim":"608464","loci":["5q13.3"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.007,"area":"United States","status":"Validated","source":"20301304[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.007,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011842","label":"Abnormality of skeletal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001028","label":"Hemangioma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100560","label":"Upper limb asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005293","label":"Venous insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100658","label":"Cellulitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002204","label":"Pulmonary embolism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001702","label":"Abnormal tricuspid valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000140","label":"Abnormality of the menstrual cycle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004414","label":"Abnormality of the pulmonary artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100724","label":"Hypercoagulability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011029","label":"Internal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001935","label":"Microcytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100784","label":"Peripheral arteriovenous fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003010","label":"Prolonged bleeding time","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null}]}}