{"orpha":217008,"name":"Segmental venous malformation","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Bockenheimer syndrome","Extensive venous malformation","Genuine diffuse phlebectasia"],"definition":"A rare vascular anomaly characterized by congenital, progressive, circumscribed venous malformations (phlebectasias) primarily involving the upper and/or lower extremities, either on one side or bilaterally. The malformed vessels are visible beneath the skin. Veins of all sizes are affected. Pain, swelling, muscle wasting, and ulceration may occur.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-217008/","orphanet_url":"https://www.orpha.net/en/disease/detail/217008","names":{"fr":{"name":"Malformation veineuse segmentaire","synonyms":["Syndrome de Bockenheimer"],"definition":"Anomalie vasculaire rare caractérisée par des malformations veineuses congénitales, progressives et circonscrites (phlébectasies) touchant principalement les membres supérieures et/ou inférieures, d'un seul ou des deux côtés. Les vaisseaux malformés sont visibles sous la peau. L'anomalie touche tous types de veines. On peut voir apparaître des douleurs, des gonflements, une fonte musculaire et des ulcérations."},"de":{"name":"Segmentale Fehlbildung der Venen","synonyms":["Bockenheimer-Syndrom","Extensive venöse Malformation","Phlebektasie, diffuse genuine"],"definition":"Eine seltene Gefäßanomalie, die durch angeborene, fortschreitende, umschriebene venöse Fehlbildungen (Phlebektasien) gekennzeichnet ist, die hauptsächlich die oberen und/oder unteren Extremitäten betreffen, entweder auf einer Seite oder beidseitig. Die fehlgebildeten Gefäße sind unter der Haut sichtbar. Es sind Venen aller Größen betroffen. Es kann zu Schmerzen, Schwellungen, Muskelschwund und Ulzerationen kommen."},"es":{"name":"Malformación venosa segmentaria","synonyms":["Flebectasia difusa genuina","Malformación venosa extensa","Síndrome de Bockenheimer"],"definition":"Es una anomalía vascular poco frecuente caracterizada por malformaciones venosas congénitas progresivas y circunscritas (flebectasias) que afectan principalmente a las extremidades superiores y/o inferiores, ya sea uni o bilateralmente. Los vasos malformados son visibles debajo de la piel. Afecta a venas de todos los calibres. Puede ocasionar dolor, hinchazón, atrofia muscular y ulceración."},"it":{"name":"Malformazione venosa segmentale","synonyms":["Malformazione venosa estesa","Flebectasia diffusa pura","Sindrome di Bockenheimer"],"definition":"Si tratta di un'anomalia vascolare rara, caratterizzata da malformazioni venose congenite progressive e circoscritte (flebectasie), mono- o bilaterali, che interessano per lo più gli arti superiori e/o inferiori. I vasi malformati sono visibili sotto la cute. La malattia interessa le vene di tutte le dimensioni. I pazienti possono presentare dolore, gonfiore, atrofia muscolare e ulcere."},"nl":{"name":"Segmentale veneuze malformatie","synonyms":["Uitgebreide veneuze malformatie","Authentieke diffuse flebectasie","Syndroom van Bockenheimer"],"definition":"Een zeldzame vasculaire anomalie, gekarakteriseerd door congenitale, progressieve, begrensde veneuze malformaties (flebectasie) met voornamelijk betrokkenheid van bovenste en/of onderste ledematen, hetzij eenzijdig of bilateraal. De misvormde bloedvaten zijn zichtbaar onder de huid. Zowel kleine als middelgrote en grote aderen worden aangetast. Pijn, zwelling, spieratrofie, en ulceratie kunnen voorkomen."},"pt":{"name":"Malformação venosa segmentar","synonyms":["Síndrome Bockenheimer","Malformação venosa extensa","Flebectasia difusa genuína"]},"pl":{"name":"Odcinkowa malformacja żylna","synonyms":["Prawdziwe rozlane rozszerzenie żył"]},"cs":{"name":"Bockenheimerův syndrom","synonyms":["Difuzní flebektazie"]},"uk":{"name":"Синдром Бокенгаймера","synonyms":["Справжня дифузна флебектазія"],"definition":"A rare vascular anomaly characterized by congenital, progressive, circumscribed venous malformations (phlebectasias) primarily involving the upper and/or lower extremities, either on one side or bilaterally. The malformed vessels are visible beneath the skin. Veins of all sizes are affected. Pain, swelling, muscle wasting, and ulceration may occur."},"zh":{"name":"Bockenheimer综合征","synonyms":["真性弥漫性静脉曲张"]},"tr":{"name":"Bockenheimer sendromu","synonyms":["Gerçek yaygın flebektazi"]}},"xrefs":[{"source":"ICD-10","code":"Q27.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LC51","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1659229633"},{"source":"MONDO","code":"0016311","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679814","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13063","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":75508,"name":"Angioosteohypotrophic syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79379,"name":"Skin vascular disease","classifications":[187]},{"orpha":715334,"name":"Unifocal peripheral venous malformation","classifications":[147,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"ISBN-13: 978-0323073677[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_ISBN-13: 978-0323073677[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-10-14","source":"30482106[PMID]_33912256[PM","terms":[{"hpo":"HP:0040064","label":"Abnormality of limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006496","label":"Aplasia/hypoplasia involving bones of the upper limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100555","label":"Asymmetric growth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025104","label":"Capillary malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001528","label":"Hemihypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001015","label":"Prominent superficial veins","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012721","label":"Venous malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011804","label":"Abnormal muscle physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100671","label":"Abnormal trabecular bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010484","label":"Hypertrophy of the upper limb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002984","label":"Hypoplasia of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003022","label":"Hypoplasia of the ulna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005792","label":"Short humerus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002753","label":"Thin bony cortex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009824","label":"Upper limb undergrowth","frequency":"Occasional (29-5%)","criteria":null}]}}