{"orpha":2010,"name":"Cleft palate-stapes fixation-oligodontia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2010/","orphanet_url":"https://www.orpha.net/en/disease/detail/2010","names":{"fr":{"name":"Syndrome de fente palatine-anomalies carpo-tarsales-oligodontie","definition":"Syndrome rare de malformation congénitale, caractérisé par une fente du palais mou, une oligodontie sévère affectant les dents de lait, une absence de dentition définitive, une surdité bilatérale de conduction liée à une fixité de la platine de l'étrier, des halluces courts avec un écartement augmenté avec les deuxièmes orteils, et une fusion des os carpiens et tarsiens. Il n'y a pas eu de description ultérieure du syndrome dans la littérature depuis 1971."},"de":{"name":"Gaumenspalte-Stapes-Fixation-Oligodontie-Syndrom","definition":"Ein seltenes angeborenes Fehlbildungssyndrom, das gekennzeichnet ist durch eine Spalte des weichen Gaumens, schwere Oligodontie des Milchgebisses, fehlendes permanentes Gebiss, beidseitige Schallleitungs-Schwerhörigkeit, verursacht durch Fixation der Stapes-Fußplatte, kurze Großzehen mit großem Abstand zwischen Zehe I. und II. und eine Fusion der Handwurzel- und Fußwurzelknochen. Seit 1971 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de paladar hendido-fijación del estribo-oligodoncia","definition":"Es un síndrome malformativo congénito poco frecuente caracterizado por paladar blando hendido, oligodoncia grave de los dientes temporales, ausencia de dentición permanente, sordera conductiva bilateral debida a la fijación de la platina del estribo, dedos cortos con un amplio espacio entre el primer y el segundo dedo del pie, y fusión de los huesos del carpo y del tarso. No ha habido más descripciones en la literatura desde 1971."},"it":{"name":"Schisi palatina - anomalie carpotarsali - oligodontia"},"nl":{"name":"Gespleten gehemelte - stijgbeugelfixatie - oligodontie-syndroom","definition":"Een zeldzaam congenitaal malformatiesyndroom, gekenmerkt door gespleten zachte gehemelte, ernstige oligodontie van melktanden, afwezigheid van permanente tanden, bilaterale conductieve doofheid door fixatie van voetplaat van stijgbeugel, korte halluces met brede ruimte tussen eerste en tweede tenen, en fusie van carpalen en tarsalen. Sinds 1971 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de fenda palatina-fixação do estribo-oligodontia"},"pl":{"name":"Rozszczep podniebienia - unieruchomienie strzemiączka - oligodoncja","definition":"Rzadki zespół wrodzonych wad rozwojowych charakteryzujący się rozszczepem podniebienia miękkiego, znacznym oligodoncją dotyczącą zębów mlecznych, brakiem uzębienia stałego, obustronnym niedosłuchem przewodzeniowym wskutek unieruchomienia podstawy strzemiączka, krótkimi paluchami z przerwą sandałową oraz zespoleniem kości nadgarstka i stępu. Od 1971 roku nie było dalszych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující rozštěp patra, fixaci třmínku a oligodoncii"},"uk":{"name":"Синдром розщілини піднебіння-фіксації стремінця-олігодонтії","definition":"A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971."},"zh":{"name":"腭裂-镫骨固定-少牙畸形综合征"},"tr":{"name":"Yarık damak-üzengi kemiği fiksasyonu-oligodonti sendromu"}},"xrefs":[{"source":"OMIM","code":"216300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008993","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304738","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1393","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"5173249[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5173249[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003028","label":"Abnormality of the ankles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008513","label":"Bilateral conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012225","label":"Oligodontia of primary teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009702","label":"Carpal synostosis","frequency":"Frequent (79-30%)","criteria":null}]}}