{"orpha":718,"name":"Isolated Pierre Robin sequence","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["PRS"],"definition":"A rare, congenital head and neck malformation characterized by the association of retrognathia and glossoptosis, with or without cleft palate, and respiratory obstruction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-718/","orphanet_url":"https://www.orpha.net/en/disease/detail/718","names":{"fr":{"name":"Syndrome de Pierre Robin isolé","synonyms":["PRS"],"definition":"Malformation congénitale rare de la tête et du cou caractérisée par l'association de rétrognathie et de glossoptose, accompagnée dans certains cas d'une fente palatine et d'une obstruction respiratoire."},"de":{"name":"Pierre-Robin-Sequenz, isolierte","synonyms":["Isoliertes Pierre-Robin-Syndrom","PRS"],"definition":"Eine seltene angeborene Fehlbildung im Kopf- und Halsbereich, die durch die Kombination von Retrognathie und Glossoptose mit oder ohne Gaumenspalte und Atemwegsobstruktion gekennzeichnet ist."},"es":{"name":"Secuencia de Pierre Robin aislada","synonyms":["SPR"],"definition":"Es una malformación congénita de la cabeza y el cuello poco frecuente caracterizada por la asociación de retrognatia y glosoptosis, con o sin fisura palatina, y obstrucción respiratoria."},"it":{"name":"Sindrome di Pierre Robin isolata","synonyms":["Sequenza isolata di Pierre Robin","PRS"],"definition":"La sequenza di Pierre Robin (PRS) isolata è una malformazione congenita rara della testa e del collo, caratterizzata da retrognazia e glossoptosi, con o senza palatoschisi, e dall'ostruzione delle vie aeree."},"nl":{"name":"Geïsoleerde Pierre Robin sequentie","synonyms":["PRS"],"definition":"Een zeldzame congenitale malformatie van hoofd en nek, gekarakteriseerd door de associatie van retrognathie en glossoptose, met of zonder gespleten verhemelte, en luchtwegobstructie."},"pt":{"name":"Síndrome Pierre-Robin isolado","synonyms":["PRS","Sequência de Pierre-Robin isolada"]},"pl":{"name":"Izolowany zespół Pierre'a Robina","synonyms":["Izolowana sekwencja Pierre'a Robina"]},"cs":{"name":"Izolovaný Pierre Robinův syndrom","synonyms":["Izolovaná Pierre Robinova sekvence"]},"uk":{"name":"Ізольований синдром Пєра Робена","synonyms":["Ізольована послідовність Пєра Робена"],"definition":"A rare, congenital head and neck malformation characterized by the association of retrognathia and glossoptosis, with or without cleft palate, and respiratory obstruction."},"zh":{"name":"孤立型Pierre Robin综合征","synonyms":["孤立型Pierre Robin序列征"]},"tr":{"name":"İzole Pierre Robin sendromu","synonyms":["İzole Pierre Robin dizisi"]}},"xrefs":[{"source":"OMIM","code":"261800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA56","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"136361299"},{"source":"MONDO","code":"0009869","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D010855","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0031900","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4347","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","classifications":[156]},{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]}],"children":[],"genes":[{"symbol":"SOX9","name":"SRY-box transcription factor 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24934569[PMID]_19234473[PMID]","hgnc":"11204","ensembl":"ENSG00000125398","omim":"608160","loci":["17q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Multigenic/multifactorial","Not applicable","Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"United Kingdom","status":"Not yet validated","source":"6626822[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":8.0,"area":"France","status":"Validated","source":"22925539[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"France","status":"Validated","source":"22925539[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":12.4,"area":"Germany","status":"Validated","source":"24433508[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.5,"area":"Denmark","status":"Validated","source":"14697070[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Denmark","status":"Not yet validated","source":"14697070[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.5,"area":"Sweden","status":"Validated","source":"8897214[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Sweden","status":"Not yet validated","source":"8897214[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.9,"area":"United Kingdom","status":"Validated","source":"6626822[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.9,"area":"United States","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"United States","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.4,"area":"Netherlands","status":"Validated","source":"25994858[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":18.8,"area":"Australia","status":"Validated","source":"34626670[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-06-04","source":"30851756[PMID]_32965884[PMID]","terms":[{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000162","label":"Glossoptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002781","label":"Upper airway obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002780","label":"Bronchomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001648","label":"Cor pulmonale","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004890","label":"Elevated pulmonary artery pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010307","label":"Stridor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001607","label":"Subglottic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002777","label":"Tracheal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002779","label":"Tracheomalacia","frequency":"Occasional (29-5%)","criteria":null}]}}