{"orpha":56305,"name":"Atelosteogenesis type III","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["AO3","AOIII","Atelosteogenesis type 3"],"definition":"A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-56305/","orphanet_url":"https://www.orpha.net/en/disease/detail/56305","names":{"fr":{"name":"Atélostéogenèse type III","synonyms":["AO3","AOIII","Atélostéogenèse type 3"],"definition":"L'atélostéogenèse type III (AOIII) est une dysplasie squelettique caractérisée par des membres courts, une dysmorphie faciale et une radiologie diagnostique caractéristique."},"de":{"name":"Atelosteogenesis Typ III","synonyms":["AO3","AOIII","Atelosteogenesis Typ 3"]},"es":{"name":"Atelosteogénesis tipo III","synonyms":["AO3","Atelosteogénesis tipo 3"],"definition":"Es una displasia esquelética poco frecuente caracterizada por dismorfia facial, extremidades cortas y hallazgos radiológicos diagnósticos."},"it":{"name":"Atelosteogenesi, tipo III","synonyms":["AO3","AOIII"]},"nl":{"name":"Atelosteogenese type III","synonyms":["AO3","AOIII"],"definition":"Een zeldzame skeletdysplasie, gekarakteriseerd door korte ledematen, dysmorf gelaat, en diagnostische radiografische bevindingen."},"pt":{"name":"Atelosteogénese III"},"pl":{"name":"Atelosteogeneza typu III","synonyms":["AO3","AOIII"]},"cs":{"name":"Atelosteogeneze, typ III","synonyms":["AO3","AOIII","Atelosteogeneze, typ 3"]},"uk":{"name":"Ателостеогенез, тип III","synonyms":["AO3","AOIII","Тип ателостеогенезу 3"],"definition":"A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings."},"zh":{"name":"成骨不全III型","synonyms":["骨发育不全症3型"]},"tr":{"name":"Atelosteogenez tip III","synonyms":["AO3","AOIII","Atelosteogenez tip 3"]}},"xrefs":[{"source":"OMIM","code":"108721","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.E","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1997882528"},{"source":"MONDO","code":"0007168","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C579928","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3668942","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10608","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93425,"name":"Filamin-related bone disorder","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":138055,"name":"Pierre Robin syndrome associated with bone disease","classifications":[147,156,200,209]},{"orpha":93441,"name":"Primary bone dysplasia with multiple joint dislocations","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"FLNB","name":"filamin B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3755","ensembl":"ENSG00000136068","omim":"603381","loci":["3p14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2019-03-26","source":"9133349[PMID]_16752402[PMID]_20301736[PMID]","terms":[{"hpo":"HP:0031095","label":"Abnormal humerus morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003417","label":"Coronal cleft vertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006408","label":"Distal tapering femur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004976","label":"Knee dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002999","label":"Patellar dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory 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