{"orpha":2956,"name":"Acrodysplasia scoliosis","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Brachydactyly-scoliosis-carpal fusion syndrome","Prata-Liberal-Goncalves syndrome"],"definition":"A rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2956/","orphanet_url":"https://www.orpha.net/en/disease/detail/2956","names":{"fr":{"name":"Syndrome d'acrodysplasie-scoliose","synonyms":["Syndrome de Prata-Liberal-Goncalves","Syndrome de brachydactylie-scoliose-fusion des carpes"],"definition":"Dysostose génétique rare caractérisée par une brachydactylie et d'autres anomalies des doigts et des orteils (métacarpiens courts et/ou larges, métatarsiens anormaux ou absents, gros orteils larges), une synostose des os du carpe, une fusion des vertèbres cervicales, une scoliose et un spina bifida occulta. Aucun cas n'a été décrit dans la littérature depuis 1984."},"de":{"name":"Akrodysplasie - Skoliose","synonyms":["Brachydaktylie - Skoliose - karpale Fusion","Prata-Liberal-Goncalves-Syndrom"]},"es":{"name":"Acrodisplasia-escoliosis","synonyms":["Síndrome de Prata-Liberal-Goncalves","Síndrome de braquidactilia-escoliosis-fusión del carpo"],"definition":"Es un trastorno genético poco frecuente, caracterizado por braquidactilia y otras anomalías en los dedos de manos/ pies (metacarpianos cortos y/o anchos, metatarsianos anómalos o ausentes, halluces anchos), sinostosis de los huesos del carpo, fusión de vértebras cervicales, escoliosis y espina bífida oculta. No se han descrito más casos en la literatura desde 1984."},"it":{"name":"Acrodisplasia - scoliosi","synonyms":["Acrodisplasia - scoliosi","Brachidattilia - scoliosi - fusione dei carpi"],"definition":"L'acrodisplasia associata alla scoliosi è una disostosi genetica rara caratterizzata da brachidattilia ed altre anomalie delle dita delle mani e dei piedi (metacarpi corti e/o larghi, anomalie o agenesia dei metatarsi, alluci larghi), sinostosi carpale, fusione delle vertebre cervicali, scoliosi e spina bifida occulta. Non sono stati descritti nuovi casi dopo il 1984."},"nl":{"name":"Acrodysplasia scoliosis","synonyms":["Brachydactylie - scoliose - carpale fusie-syndroom","Syndroom van Prata-Liberal-Goncalves"],"definition":"Een zeldzame, genetische dysostose, gekarakteriseerd door brachydactylie en andere anomalieën van vingers/tenen (korte en/of brede metacarpalen, abnormale of afwezige metatarsalen, brede grote tenen), carpale synostose, fusie van nekwervels, scoliose en spina bifida occulta. Sinds 1984 verschenen er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Acrodisplasia-escoliose","synonyms":["Síndrome Prata-Liberal-Goncalves","Síndrome de braquidactilia-escoliose-sinostose do carpo"]},"pl":{"name":"Zespół Prata, Liberala i Goncalvesa","synonyms":["Brachydaktylia - skolioza - fuzja kości nadgarstka","Dysplazja kończyn - skolioza"],"definition":"*Zespół Prata, Liberala i Goncalvesa jest rzadkim, genetycznie uwarunkowaną dyzostozą, która charakteryzuje się brachydaktylią i innymi wadami palców dłoni/stóp (krótkie i/lub szerokie kości śródręcza, nieprawidłowości lub brak kości śródręcza, szerokie paluchy), synostozą (zrośnięciem) kości nadgarstka, zrośniętymi kręgami szyjnymi, skoliozą i zamkniętym rozszczepem kręgosłupa. W literaturze od 1984 roku nie było nowych opisów."},"cs":{"name":"Prataův-Liberalův-Goncalvesův syndrom","synonyms":["Acrodysplasia scoliosis","Syndrom zahrnující brachydaktylii, skoliózu a karpální fúzi","Prata-Liberal-Goncalvesův syndrom"]},"uk":{"name":"Акродисплазійний сколіоз","synonyms":["Синдром брахідактилії-сколіозу-зрощення запястка","Синдром Прата-Ліберала-Гонкальвеса"],"definition":"A rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984."},"zh":{"name":"尖头并指脊柱侧凸","synonyms":["短指（趾）畸形-脊柱侧弯-腕骨融合综合征"]},"tr":{"name":"Akrodisplazi skolyoz","synonyms":["Prata-Liberal-Goncalves sendromu","Brakidaktili-skolyoz-karpal füzyon sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017568","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538180","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931761","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"491","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498454,"name":"Dysostosis with brachydactyly with extraskeletal manifestations","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"6335370[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6335370[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Frequent (79-30%)","criteria":null}]}}