{"orpha":75508,"name":"Angioosteohypotrophic syndrome","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Phlebectatic osteohypoplastic angiodysplasia","Servelle-Martorell syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Segmental venous malformation","url":"https://raremap.alftech.space/d/ORPHA-75508/","orphanet_url":"https://www.orpha.net/en/disease/detail/75508","names":{"fr":{"name":"Syndrome angio-ostéo-hypotrophique","synonyms":["Syndrome de Servelle-Martorell"]},"de":{"name":"Angio-osteo-hypotrophisches Syndrom","synonyms":["Angiodysplasie, osteohypoplastische phlebektatische","Servelle-Martorell-Syndrom"]},"es":{"name":"Síndrome angio-osteo-hipotrófico","synonyms":["Síndrome de Servelle-Martorell"]},"it":{"name":"Sindrome angio-osteoipotrofica","synonyms":["Angiodisplasia osteo-ipoplasica flebectasica","Sindrome di Servelle-Martorell"]},"nl":{"name":"Angio-osteohypotrofisch syndroom","synonyms":["Flebectatische osteohypoplastische angiodysplasie","Syndroom van Servelle-Martorell"]},"pt":{"name":"Síndrome angio-osteo-hipotrófico","synonyms":["Síndrome de Servelle-Martorell"]},"pl":{"name":"Zespół naczyniowo-osteohipotroficzny","synonyms":["Zespół Servelle'a i Martorella"],"definition":"*Zespół naczyniowo-osteohipotroficzny jest rzadką, wrodzoną anomalią układu naczyniowego, która charakteryzuje się wadami naczyń żylnych lub niekiedy tętniczych i który prowadzi do przerostu tkanek miękkich i hipoplazji kości. Chorobowo zajęta kończyna jest na ogół skrócona, mocno zdeformowana, bolesna i obrzęknięta, z widocznym niedorozwojem kości i mięśni. Zazwyczaj zmiany dotyczą izolowanych pojedynczych obszarów lub licznych, drobnych regionów na kończynach, ale opisywano także bardziej zaawansowaną postać choroby z zajęciem całej kończyny, obręczy barkowej oraz dołu pachowego."},"cs":{"name":"Angioosteohypotrofický syndrom","synonyms":["Flebektatická osteohypoplastická angiodysplázie","Servellův-Martorellův syndrom","Servelle-Martorellův syndrom"]},"uk":{"name":"Ангіоостеогіпотрофічний синдром","synonyms":["Флебектатична остеогіпопластична ангіодисплазія","Синдром Сервеля-Мартореля"],"definition":"A rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported."},"zh":{"name":"血管骨营养不良综合征","synonyms":["血管骨营养不良综合征"]},"tr":{"name":"Anjiyoosteohipotrofik sendrom","synonyms":["Servelle-Martorell sendromu","Flebektatik osteohipoplastik anjiyodisplazi"]}},"xrefs":[{"source":"MONDO","code":"0019156","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707561","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":217008,"name":"Segmental venous malformation"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}