{"orpha":1190,"name":"Atelosteogenesis type I","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["AO1","AOI","Atelosteogenesis type 1","Giant cell chondrodysplasia","Spondylo-humero-femoral dysplasia"],"definition":"A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1190/","orphanet_url":"https://www.orpha.net/en/disease/detail/1190","names":{"fr":{"name":"Atélostéogenèse type I","synonyms":["AO1","AOI","Atélostéogenèse type 1","Chondrodysplasie à cellules géantes","Dysplasie spondylo-huméro-fémorale"],"definition":"Syndrome de Pierre Robin associé à une maladie osseuse caractérisée par une forme sévère de petite taille avec membres courts, des luxations articulaires, des pieds bots, ainsi qu'une dysmorphie faciale et des radiographies mettant en évidence des signes caractéristiques."},"de":{"name":"Atelosteogenesis Typ I","synonyms":["AO1","AOI","Atelosteogenesis Typ 1","Dysplasie, spondylo-humero-femorale","Riesenzellchondrodysplasie"],"definition":"Ein Pierre-Robin-Syndrom, das mit einer Knochenerkrankung einhergeht. Es ist gekennzeichnet durch schweren Kleinwuchs, Gelenkdislokationen und Klumpfüße in Verbindung mit einem spezifischen Gesichtsausdruck und auffälligen Röntgenbefunden."},"es":{"name":"Atelosteogénesis tipo I","synonyms":["AO1","Atelosteogénesis tipo 1","Condrodisplasia de células gigantes","Displasia espondilo-húmero-femoral"],"definition":"Es un síndrome de Pierre Robin asociado a enfermedad ósea caracterizado por talla baja grave de extremidades cortas, luxaciones articulares, pie zambo junto con facies y hallazgos radiográficos característicos."},"it":{"name":"Atelosteogenesi tipo 1","synonyms":["AO1","AOI","Condrodisplasia a cellule giganti","Displasia spondilo-omero-femorale"],"definition":"L'atelosteogenesi tipo 1 (AO1) è una sindrome di Pierre Robin associata a displasia scheletrica; è caratterizzata da grave nanismo con arti corti, dislocazione delle articolazioni, piede equino, dismorfismi facciali caratteristici e anomalie radiologiche."},"nl":{"name":"Atelosteogenese type I","synonyms":["AO1","AOI","Atelosteogenese type 1","Reuscelchondrodysplasie","Spondylo-humero-femorale dysplasie"],"definition":"Een syndroom van Pierre Robin geassocieerd met botziekte, gekarakteriseerd door ernstige dwerggroei met korte ledematen, gewrichtsdislocaties, en klompvoeten, samen met kenmerkende gelaatstrekken en radiografische bevindingen."},"pt":{"name":"Atelosteogénese tipo I","synonyms":["Condrodisplasia de células gigantes","Displasia espondilo-úmero-femoral"]},"pl":{"name":"Atelosteogeneza typu I","synonyms":["AO1","AOI","Chondrodysplazja wielkokomórkowa","Dysplazja kręgowo-ramienno-udowa"]},"cs":{"name":"Atelosteogeneze, typ I","synonyms":["AO1","AOI","Atelosteogeneze, typ 1","Spondylohumerofemorální dysplázie","Obrovskobuněčná chondrodysplázie"]},"uk":{"name":"Ателостеогенез, тип I","synonyms":["AO1","AOI","Ателостеогенез типу 1","Гігантоклітинна хондродисплазія","Спондило-гумеро-стегнова дисплазія"],"definition":"A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings."},"zh":{"name":"骨发育不全症1型","synonyms":["脊柱-肱骨-股骨发育不良"]},"tr":{"name":"Atelosteogenez tip I","synonyms":["AO1","AOI","Atelosteogenez tip 1","Dev hücreli kondrodisplazi","Spondilo-humero-femoral displazi"]}},"xrefs":[{"source":"OMIM","code":"108720","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":"449799342"},{"source":"MONDO","code":"0007167","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535396","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265283","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9287","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":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) (gain of function) in","status":"Assessed","source":"20301736[PMID]","hgnc":"3755","ensembl":"ENSG00000136068","omim":"603381","loci":["3p14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-24","source":"12454961[PMID]_23401428[PMID]_21985323[PMID]_20301736[PMID]","terms":[{"hpo":"HP:0002991","label":"Abnormal fibula morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009107","label":"Abnormal ossification involving the femoral head and neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004599","label":"Absent or minimally ossified vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003417","label":"Coronal cleft vertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003097","label":"Short femur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005257","label":"Thoracic hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030992","label":"Abnormal pancreatic duct morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002280","label":"Enlarged cisterna magna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001602","label":"Laryngeal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004894","label":"Laryngotracheal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004785","label":"Malrotation of colon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005562","label":"Multiple renal cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008857","label":"Neonatal short-trunk short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007973","label":"Retinal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Occasional (29-5%)","criteria":null}]}}