{"orpha":2062,"name":"Progressive non-infectious anterior vertebral fusion","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Copenhagen syndrome","PAVF"],"definition":"Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2062/","orphanet_url":"https://www.orpha.net/en/disease/detail/2062","names":{"fr":{"name":"Fusion des vertèbres progressive non infectieuse","synonyms":["FVAP","Fusion vertébrale antérieure progressive","Syndrome de Copenhague"],"definition":"Anomalie rachidienne de la petite enfance caractérisée par l'apparition progressive d'une ankylose de la colonne thoracique et/ou lombaire souvent associée à une cyphose avec des signes radiologiques caractéristiques."},"de":{"name":"Progrediente nicht-infektiöse anteriore Wirbelfusion","synonyms":["Copenhagen-Syndrom","PAVF"]},"es":{"name":"Fusión vertebral anterior progresiva no infecciosa","synonyms":["PAVF","Síndrome de Copenhague"],"definition":"La fusión vertebral anterior progresiva no infecciosa (FAVP) es un trastorno espinal de la primera infancia caracterizado por la aparición gradual de anquilosis de la columna torácica y/o lumbar, a menudo junto con cifosis con características radiológicas distintivas."},"it":{"name":"Fusione vertebrale anteriore progressiva non infettiva","synonyms":["PAVF","Sindrome di Copenhagen"]},"nl":{"name":"Progressieve niet-infectieuze anterieure vertebrale fusie","synonyms":["Kopenhagen-syndroom","PAVF"],"definition":"Progressieve niet-infectieuze anterieure vertebrale fusie (PAVF) is een aandoening van de wervelkolom in de vroege kindertijd, gekenmerkt door geleidelijk optredende ankylose van thoracale en/of lumbale wervelkolom, vaak in combinatie met kyfose met typische radiologische kenmerken."},"pt":{"name":"Fusão vertebral anterior progressiva não infeciosa","synonyms":["PAVF","Síndrome Copenhaga"]},"pl":{"name":"Postępujący nieinfekcyjny zrost kręgów przednich","synonyms":["Zespół Copenhagen"]},"cs":{"name":"Progresivní neinfekční přední fúze obratlů","synonyms":["Kodaňský syndrom"]},"uk":{"name":"Прогресуючий неінфекційний передній хребетний спондилодез","synonyms":["Копенгагенський синдром","PAVF"],"definition":"Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features."},"zh":{"name":"进行性非感染性前椎骨融合","synonyms":["哥本哈根综合征"]},"tr":{"name":"İlerleyici enfeksiyöz olmayan anterior vertebral füzyon","synonyms":["Kopenhag sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.H","qualifier":"BTNT","icd_relation":"index","validated":true,"icd11_uri":"324488322"},{"source":"MONDO","code":"0016087","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304839","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93454,"name":"Dysostosis with predominant vertebral and costal involvement","classifications":[147,156,199]},{"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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":67.0,"area":"Worldwide","status":"Validated","source":"25485486[PMID]_28235247[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"25485486[PMID]_28235247[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-02-15","source":"22277711[PMID]_16328382[PMID]","terms":[{"hpo":"HP:0005108","label":"Abnormal intervertebral disk morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000925","label":"Abnormality of the vertebral column","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003363","label":"Abdominal situs inversus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100777","label":"Exostoses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002011","label":"Morphological central nervous system abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005037","label":"Proximal radio-ulnar synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003306","label":"Spinal rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Occasional (29-5%)","criteria":null}]}}