{"orpha":2759,"name":"Imperforate oropharynx-costovertebral anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Seghers syndrome"],"definition":"Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2759/","orphanet_url":"https://www.orpha.net/en/disease/detail/2759","names":{"fr":{"name":"Syndrome d'imperforation de l'oropharynx-anomalies costovertébrales","synonyms":["Syndrome de Seghers"],"definition":"Dysostose vertébrale ou costale caractérisée par une atrésie oropharyngée, une légère dysostose mandibulo-faciale, des malformations auriculaires et des malformations costales et vertébrales (hémivertèbres, bloc vertébral, fusion partielle des côtes, côtes absentes). Aucun cas n'a été décrit dans la littérature depuis 1989."},"de":{"name":"Oropharynx imperforatus - costovertebrale Fehlbildungen","synonyms":["Seghers-Syndrom"]},"es":{"name":"Síndrome de imperforación orofaríngea-anomalías costovertebrales","synonyms":["Síndrome de Seghers"],"definition":"El síndrome de imperforación orofaríngea - anomalías costo-vertebrales, es una disostosis con afectación predominantemente vertebral y costal caracterizada por atresia orofaríngea, disostosis mandibulofacial leve, malformaciones auriculares y anomalías costo vertebrales (hemivértebras, bloque vertebral, fusión costal parcial, costillas ausentes). No ha habido más casos descritos en la literatura desde 1989."},"it":{"name":"Sindrome da orofaringe imperforato ed anomalie costovertebrali","synonyms":["Sindrome di Seghers"],"definition":"La sindrome che associa l'imperforazione dell'orofaringe e le anomalie costovertebrali è una disostosi con prevalente interessamento delle vertebre e delle costole, caratterizzata da atresia orofaringea, lieve disostosi mandibolo-facciale, malformazioni dell'orecchio ed anomalie costovertebrali (emivertebre, blocco vertebrale e fusione parziale o aplasia delle costole). Non sono stati descritti nuovi casi dopo il 1989."},"nl":{"name":"Ongeperforeerde orofarynx - costovertebrale anomalieën-syndroom","synonyms":["Syndroom van Seghers"],"definition":"Ongeperforeerde orofarynx - costovertebrale anomalieën-syndroom is een dysostose met betrokkenheid van voornamelijk wervels en ribben, en wordt gekarakteriseerd door atresie van de orofarynx, milde mandibulofaciale dysostose, oormalformaties, en costovertebrale anomalieën (hemivertebrae, blokwervels, partiële fusie van de ribben, afwezige ribben). Sinds 1989 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome orofaringe imperfurada-anomalias costo-vertebrais","synonyms":["Síndrome Seghers"]},"pl":{"name":"Zespół zarośnięcia ustnej części gardła z wadami żeber i kręgów","synonyms":["Zespół Seghersa"],"definition":"*Zespół zarośnięcia ustnej części gardła z wadami żeber i kręgów to dysostoza z dominującym zajęciem kręgów i żeber. Charakteryzuje się zarośnięciem ustnej części gardła, łagodną dyzostozą żuchwowo-twarzową, wadami małżowiny usznej i anomaliami żebrowo-kręgowymi (półkręgi, blok kręgów, częściowe zrośnięcie żeber, brak żeber). Od 1989 roku nie ma nowych opisów w literaturze.inf brsup inf brsup"},"cs":{"name":"Syndrom zahrnující neperforovaný orofarynx a kosto-vertebrální anomálie","synonyms":["Seghersův syndrom"]},"uk":{"name":"Синдром неперфорованих ротоглотково-реберно-вертебральних аномалій","synonyms":["Синдром Сегерса"],"definition":"Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989."},"zh":{"name":"口咽闭锁-肋椎骨异常综合征","synonyms":["Seghers综合征"]},"tr":{"name":"İmperforat orofarinks-kostovertebral anomaliler sendromu","synonyms":["Seghers sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017162","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749770","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2989","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"2929659[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2929659[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-07","source":null,"terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000159","label":"Abnormal lip morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000153","label":"Abnormality of the mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000600","label":"Abnormality of the pharynx","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000288","label":"Abnormality of the philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000921","label":"Missing ribs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009896","label":"Abnormality of the antitragus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010295","label":"Aplasia/Hypoplasia of the tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011302","label":"Long palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null}]}}