{"orpha":3104,"name":"Robin sequence-oligodactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Pierre Robin sequence-oligodactyly syndrome"],"definition":"Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3104/","orphanet_url":"https://www.orpha.net/en/disease/detail/3104","names":{"fr":{"name":"Syndrome de séquence de Robin-oligodactylie","synonyms":["Syndrome de séquence de Pierre Robin-oligodactylie"],"definition":"Un syndrome génétique rare et une anomalie du développement survenant pendant l'embryogenèse. Il se caractérise par une séquence de Robin (micrognathie sévère, rétroglossie et fente du palais postérieur en forme de U) associée à une oligodactylie pré- et post-axiale. La dysmorphie faciale peut inclure un visage étroit et une arcade dentaire inférieure étroite. Une clinodactylie a aussi été rapportée, ainsi que des phalanges absentes, des métacarpes fusionnés et une hypoplasie des os carpiens. Il n'y a pas eu de description ultérieure dans la littérature depuis 1986."},"de":{"name":"Pierre-Robin-Sequenz - Oligodaktylie","synonyms":["Pierre-Robin-Syndrom- Oligodaktylie"]},"es":{"name":"Síndrome de secuencia de Robin-oligodactilia","synonyms":["Secuencia de Pierre Robin-oligodactilia"],"definition":"Es un síndrome por defectos del desarrollo embrionario, genético y poco frecuente, caracterizado por secuencia de Robin (es decir, micrognatia, retroglosia y hendidura del paladar posterior en forma de U) junto con oligodactilia pre- y postaxial. Las características faciales pueden incluir cara estrecha y arco dental inferior estrecho. También se ha descrito clinodactilia, falange ausente, fusiones metacarpianas y carpos hipoplásicos. No se han descrito más casos en la literatura desde 1986."},"it":{"name":"Sindrome da sequenza di Pierre Robin e oligodattilia","definition":"La sindrome che associa la sequenza di Pierre Robin e l'oligodattilia è un difetto genetico raro dello sviluppo dell'embrione, caratterizzato dalla sequenza di Pierre Robin (micrognazia grave, retroglossia e schisi a forma di U del palato molle) associata ad oligodattilia pre- e post-assiale. Altri segni clinici sono il viso e l'arcata dentale inferiore stretti. Sono stati descritti pazienti con clinodattilia, aplasia delle falangi, fusioni metacarpali e ipoplasia dei carpi. Non sono stati descritti nuovi casi dopo il 1986."},"nl":{"name":"Robin sequentie - oligodactylie-syndroom","synonyms":["Pierre Robin sequentie - oligodactylie-syndroom"],"definition":"Robin-sequentie - oligodactylie-syndroom is een zeldzaam, genetisch syndroom met een ontwikkelingsdefect tijdens de embryogenese, en wordt gekarakteriseerd door sequentie van Robin (i.e. ernstige micrognathie, te ver naar achter liggende tong, en U-vormig gespleten posterieur verhemelte) geassocieerd met pre- en postaxiale oligodactylie. Mogelijke gezichtskenmerken zijn onder meer een smal gelaat en smalle onderste tandboog. Clinodactylie, afwezige falanx, fusies van metacarpalen, en hypoplastische handwortelbeentjes werden ook reeds waargenomen. Sinds 1986 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de sequência de Robin-oligodactilia","synonyms":["Síndrome de sequência Pierre-Robin-oligodactilia"]},"pl":{"name":"Sekwencja Robina - oligodaktylia","synonyms":["Sekwencja Pierre'a Robina - oligodaktylia"],"definition":"*Sekwencja Robina – oligodaktylia jest rzadką, genetycznie uwarunkowaną wadą rozwojową powstałą podczas embriogenezy, która charakteryzuje się sekwencją Robina (tj. ciężką mikrognacją, retroglosją i rozszczepem tylnego podniebienia w kształcie litery U) z towarzyszącą oligodaktylią przed- i pozaosiową. Obserwuje się wąską twarz i wąski dolny łuk zębowy. Opisywano również klinodaktylię, brak palców, zrosty kości śródręcza i hipoplastyczne nadgarstki. Od 1986 roku nie ma w literaturze nowych opisów."},"cs":{"name":"Syndrom zahrnující Robinovu sekvenci a oligodaktylii","synonyms":["Syndrom zahrnující Pierre Robinovu sekvenci a oligodaktylii"]},"uk":{"name":"Синдром послідовності Пєра Робена-олігодактилії","synonyms":["Синдром послідовності Пєра Робена - олігодактилії"],"definition":"Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986."},"zh":{"name":"罗宾序列-少指畸形综合征","synonyms":["pierre Robin序列征-少指(趾)畸形综合征"]},"tr":{"name":"Robin dizi-oligodaktili sendromu","synonyms":["Pierre Robin dizisi-oligodaktili sendromu"]}},"xrefs":[{"source":"OMIM","code":"172880","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008247","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535688","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749398","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4729","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"3777025[PMID]_3425604[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3777025[PMID]_3425604[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009380","label":"Finger aplasia","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:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Occasional (29-5%)","criteria":null}]}}