{"orpha":83628,"name":"LUMBAR syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome","PELVIS syndrome","Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome","SACRAL syndrome"],"definition":"A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-83628/","orphanet_url":"https://www.orpha.net/en/disease/detail/83628","names":{"fr":{"name":"Syndrome LUMBAR","synonyms":["Syndrome PELVIS","Syndrome SACRAL","Syndrome d'hémangiome périnéal-malformations génitales externes-lipomyéloméningocèle-anomalies vésicorénales-imperforation anale-acrochordon"],"definition":"PELVIS est un acronyme désignant l'association d'un hémangiome du Périnée, de malformations génitales Externes, d'un Lipomyéloméningocèle, d'anomalies Vésico-rénales, d'une Imperforation anale, et d'anomalies dermatologiques (Skin en anglais). 11 cas ont été publiés à ce jour."},"de":{"name":"LUMBAR-Syndrom","synonyms":["Hämangiom des unteren Körpers-urogenitale Anomalien-Myelopathie-knöcherne Fehlbildungen-anorektale und arterielle Fehlbildungen-Nierenanomalien-Syndrom","PELVIS-Syndrom","Perineale Hämangiome-externe genitale Fehlbildungen-Lipomyelomeningozele-vesikorenale Fehlbildungen-Analatresie-Stielwarzen","SACRAL-Syndrom"],"definition":"Das Akronym PELVIS steht für <u>p</u>erineale Hämangiome, Fehlbildung der <u>e</u>xternen Genitalien, <u>L</u>ipo-Myelomeningozele, <u>v</u>esiko-renale Fehlbildungen, Anus <u>i</u>mperforatus und Haut ('<u>s</u>kin')-Anhängsel."},"es":{"name":"Síndrome LUMBAR","synonyms":["Síndrome PELVIS","Síndrome SACRAL","Síndrome de hemangioma en la mitad inferior del cuerpo - anomalías urogenitales-renales - mielopatía - malformaciones óseas-anorrectales-arteriales","Síndrome de hemangioma en la mitad inferior del cuerpo-anomalías urogenitales-renales-mielopatía-malformaciones óseas-anorrectales-arteriales","Síndrome de hemangioma perineal-malformaciones genitales externas-lipomielomeningocele-anomalías vésico-renales-ano imperforado-apéndice cutáneo"],"definition":"Es un trastorno caracterizado por la asociación de hemangioma perineal, malformaciones de los genitales externos, lipomielomeningocele, anomalías vesicorrenales, ano imperforado y apéndice cutáneo. Hasta la fecha se han descrito once casos en la literatura."},"it":{"name":"Sindrome PELVIS","synonyms":["Emangioma perineale - malformazioni dei genitali esterni - lipomielomeningocele - anomalie vescicorenali - ano imperforato","Sequenza malformativa del setto urorettale"]},"nl":{"name":"LUMBAR-syndroom","synonyms":["Hemangioom van onderlichaam - urogenitale anomalieën - myelopathie - botmisvormingen - anorectale en arteriële malformaties - renale anomalieën-syndroom","PELVIS-syndroom","Perineaal hemangioom - malformaties van externe genitaliën - lipomyelomeningocele - vesicorenale afwijkingen - anusatresie - huidaanhangsel-syndroom","SACRAL-syndroom"],"definition":"Een aandoening gedefinieerd door de associatie van perineaal hemangioom, malformaties van uitwendige geslachtsorganen, lipomyelomeningocele, vesicorenale afwijkingen, anusatresie, en huidaanhangsel. Er werden elf gevallen gerapporteerd."},"pt":{"name":"Síndrome LUMBAR","synonyms":["Síndrome de hemangioma perineal-malformações genitais externas-lipomielomeningocelo-anomalias vesico-renais-ânus imperfurado-apêndice cutâneo","Síndrome PELVIS"]},"pl":{"name":"Zespół PELVIS","synonyms":["Naczyniaki krocza - wady zewnętrznych narządów wewnętrznych - lipomyelomeningocele - wady pęcherza moczowego i nerek - niedrożność odbytu","Sekwencja malformacyjna przegrody moczowo-płciowej"]},"cs":{"name":"PELVIS syndrom","synonyms":["Syndrom zahrnující perineální hemangiom, malformaci zevního genitálu, lipomyelomeningokélu, vezikorenální abnormality a atrézii anu","Malformační sekvence urorektálního septa"]},"uk":{"name":"Синдром LUMBAR","synonyms":["Синдром гемангіоми нижньої частини тіла - урогенітальних аномалій - мієлопатіяї- кісткових деформацій - аноректальних та артеріальних мальформацій - ниркових аномалій","Синдром PELVIS","Синдром гемангіоми промежини - вади розвитку зовнішніх статевих органів - ліпомієломенінгоцеле - везикоренальних аномалій - імперфорації заднього проходу - шкірної мітки","Синдром SACRAL"],"definition":"A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported."},"zh":{"name":"LUMBAR综合征","synonyms":["SACRAL综合征"]},"tr":{"name":"LUMBAR sendromu","synonyms":["Alt vücut hemanjiyomu-ürogenital anomaliler-miyelopati-kemik deformiteleri-anorektal ve arteriyel malformasyonlar-renal anomaliler sendromu","Perineal hemanjiyom-eksternal genital malformasyonlar-lipomiyelomeningosel-vezikorenal anormallikler-imperforat anüs-deri etiket sendromu","PELVIS sendromu","SACRAL sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1311821224"},{"source":"MONDO","code":"0019388","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510867","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10082949","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2125,"name":"Sacral hemangiomas-multiple congenital abnormalities syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]},{"orpha":210589,"name":"Rare infantile hemangioma","classifications":[147,198,202]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]},{"orpha":79385,"name":"Unclassified genetic skin disorder","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":54.0,"area":"Worldwide","status":"Validated","source":"24259379[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"16847205[PMID]_23278237[PMID]","terms":[{"hpo":"HP:0001028","label":"Hemangioma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000136","label":"Bifid uterus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002836","label":"Bladder exstrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004397","label":"Ectopic anus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000059","label":"Hypoplastic labia majora","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000075","label":"Renal duplication","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010609","label":"Skin tags","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002475","label":"Myelomeningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Occasional (29-5%)","criteria":null}]}}