{"orpha":2920,"name":"Oliver syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Postaxial polydactyly-intellectual disability syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability and postaxial polydactyly of the hands, and sometimes of the feet. Seizures are also common and usually manifest in the first months of life or in early childhood. Other clinical signs may include cutaneous syndactyly, camptodactyly and clinodactyly of fingers and brachydactyly and syndactyly of the toes. There have been no further descriptions in the literature since 1983.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2920/","orphanet_url":"https://www.orpha.net/en/disease/detail/2920","names":{"fr":{"name":"Syndrome d'Oliver","synonyms":["Syndrome de polydactylie postaxiale-déficience intellectuelle"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par une déficience intellectuelle et une polydactylie post-axiale des mains, et parfois des pieds. Les crises convulsives sont également fréquentes et se manifestent généralement au cours des premiers mois de vie ou de la petite enfance. D'autres signes cliniques peuvent inclure une syndactylie cutanée, une camptodactylie et une clinodactylie des doigts, ainsi qu'une brachydactylie et une syndactylie des orteils. Aucun nouveau cas n'a été décrit dans la littérature depuis 1983."},"de":{"name":"Oliver-Syndrom","synonyms":["Postaxiale Polydaktylie mit Intelligenzminderung"],"definition":"Das Oliver-Syndrom ist sehr selten und gekennzeichnet durch intellektuelles Defizit, postaxiale Polydaktylie und Epilepsie."},"es":{"name":"Síndrome de Oliver","synonyms":["Síndrome de polidactilia postaxial-discapacidad intelectual"],"definition":"Es un síndrome muy poco frecuente caracterizado por: déficit intelectual, polidactilia postaxial y epilepsia."},"it":{"name":"Sindrome di Oliver","synonyms":["Sindrome polidattilia postassiale-disabilità intellettiva"]},"nl":{"name":"Syndroom van Oliver","synonyms":["Postaxiale polydactylie - intellectuele achterstand-syndroom"],"definition":"Een zeer zeldzaam syndroom, gekenmerkt door intellectuele achterstand, postaxiale polydactylie, en epilepsie."},"pt":{"name":"Síndrome Oliver","synonyms":["Síndrome de polidactilia pós-axial-perturbação do desenvolvimento intelectual"],"definition":"A síndrome de Oliver é uma síndrome muito rara caracterizada por défice cognitivo, polidactilia pós-axial e epilepsia."},"pl":{"name":"Zespół Olivera","synonyms":["Polidaktylia pozaosiowa - upośledzenie umysłowe"]},"cs":{"name":"Oliverův syndrom","synonyms":["Syndrom zahrnující postaxiální polydaktylii a mentální retardaci"]},"uk":{"name":"Синдром Олівера","synonyms":["Синдром постаксіальної полідактилії - інтелектуальної недостатності"],"definition":"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy."},"zh":{"name":"Oliver综合征","synonyms":["轴后多指（趾）-智力障碍综合征"]},"tr":{"name":"Oliver Sendromu","synonyms":["Postaksiyal polidaktili-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"258200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2072460929"},{"source":"MONDO","code":"0009777","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564931","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850320","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4069","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"16278897[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16278897[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-12","source":"16278897[PMID]","terms":[{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010554","label":"Cutaneous finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001830","label":"Postaxial foot polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000387","label":"Absent earlobe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001812","label":"Hyperconvex fingernails","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001212","label":"Prominent fingertip pads","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000385","label":"Small earlobe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002558","label":"Supernumerary nipple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null}]}}