{"orpha":2771,"name":"Bruck syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Osteogenesis imperfecta-congenital joint contractures syndrome"],"definition":"A rare genetic bone disease characterized by the association of osteogenesis imperfecta and congenital joint contractures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2771/","orphanet_url":"https://www.orpha.net/en/disease/detail/2771","names":{"fr":{"name":"Syndrome de Bruck","synonyms":["Syndrome d'ostéogenèse imparfaite-contractures articulaires"],"definition":"Maladie osseuse génétique rare caractérisée par l'association d'une ostéogenèse imparfaite et de contractures articulaires congénitales."},"de":{"name":"Bruck-Syndrom","synonyms":["Osteogenesis imperfecta - kongenitale Gelenkkontrakturen"],"definition":"Eine seltene Knochenkrankheit, die durch die Verbindung von Osteogenesis imperfecta und angeborenen Gelenkkontrakturen gekennzeichnet ist."},"es":{"name":"Síndrome de Bruck","synonyms":["Fragilidad ósea-contracturas articulares"],"definition":"Es una enfermedad ósea de origen genético poco frecuente caracterizada por la asociación de osteogénesis imperfecta y contracturas articulares congénitas."},"it":{"name":"Sindrome di Bruck","synonyms":["Osteogenesi imperfetta - contratture congenite delle articolazioni"]},"nl":{"name":"Syndroom van Bruck","synonyms":["Osteogenesis imperfecta - congenitale gewrichtscontracturen-syndroom"],"definition":"Een zeldzame genetische botziekte, gekenmerkt door de associatie van osteogenesis imperfecta en congenitale gewrichtscontracturen."},"pt":{"name":"Síndrome Bruck","synonyms":["Osteogénse imperfeita com artrogripose congénita"],"definition":"A síndrome de Bruck é caracterizado pela associação de osteogénese imperfeita e contraturas articulares congénitas."},"pl":{"name":"Zespół Brucka","synonyms":["Wrodzona łamliwość kości - wrodzone przykurcze stawów"]},"cs":{"name":"Bruckův syndrom","synonyms":["Syndrom zahrnující osteogenesis imperfecta a vrozené kontraktury kloubů"]},"uk":{"name":"Синдром Брука","synonyms":["Синдром недосконалого остеогенезу - вроджені контрактури суглобів"],"definition":"Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures."},"zh":{"name":"布鲁克综合征","synonyms":["成骨不全-先天性关节挛缩综合征"]},"tr":{"name":"Bruck sendromu","synonyms":["Osteogenezis imperfekta-doğumsal eklem kontraktür sendromu"]}},"xrefs":[{"source":"OMIM","code":"259450","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"609220","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.KY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1783996418"},{"source":"MONDO","code":"0017195","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432253","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1029","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10063718","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93446,"name":"Primary bone dysplasia with decreased bone density","classifications":[147,156,199]},{"orpha":167762,"name":"Rare disease with dentinogenesis imperfecta","classifications":[156,197]}],"children":[],"genes":[{"symbol":"FKBP10","name":"FKBP prolyl isomerase 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22085994[PMID]_22949511[PMID]_22689593[PMID]","hgnc":"18169","ensembl":"ENSG00000141756","omim":"607063","loci":["17q21.2"]},{"symbol":"PLOD2","name":"procollagen-lysine,2-oxoglutarate 5-dioxygenase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"15523624[PMID]_22689593[PMID]","hgnc":"9082","ensembl":"ENSG00000152952","omim":"601865","loci":["3q24"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"25238597[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25238597[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001059","label":"Pterygium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Occasional (29-5%)","criteria":null}]}}