{"orpha":2476,"name":"Dysraphism-cleft lip/palate-limb reduction defects syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Medeira-Dennis-Donnai syndrome"],"definition":"A rare developmental defect during embryogenesis disorder characterized by spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. There have been no further descriptions in the literature since 1994.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2476/","orphanet_url":"https://www.orpha.net/en/disease/detail/2476","names":{"fr":{"name":"Syndrome de dysraphie-fente labiopalatine-anomalie des membres","synonyms":["Syndrome de Medeira-Dennis-Donnai"],"definition":"Anomalie rare du développement embryonnaire caractérisée par un dysraphisme spinal, une fente labiale et palatine, des membres anormalement courts et une anencéphalie. Aucun cas n'a été décrit dans la littérature depuis 1994."},"de":{"name":"Dysraphie mit Lippen-Kiefer-Gaumen-Spalte und Reduktionsdefekt der Extremitäten","synonyms":["Medeira-Dennis-Donnai-Syndrom"],"definition":"Eine seltene Entwicklungsstörung während der Embryogenese, die durch Wirbelsäulendysraphie, Lippen-Kiefer-Gaumenspalte, Gliedmaßenreduktionsfehler und Anenzephalie gekennzeichnet ist. Seit 1994 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de disrafismo-fisura labiopalatina-defectos por reducción de extremidades","synonyms":["Síndrome de Medeira-Dennis-Donnai"],"definition":"Es un defecto del desarrollo embrionario poco frecuente, caracterizado por disrafia espinal, labio y paladar hendidos, defectos de reducción de las extremidades y anencefalia. No ha habido más casos descritos en la literatura desde 1994."},"it":{"name":"Sindrome da disrafia-labio/palatoschisi-difetti in riduzione degli arti","synonyms":["Sindrome di Medeira-Dennis-Donnai"],"definition":"Si tratta di un difetto raro dello sviluppo dell'embrione, caratterizzato da disrafismo spinale, labio- e palatoschisi, difetti in riduzione degli arti e anencefalia. Non sono stati descritti nuovi casi dopo il 1994."},"nl":{"name":"Dysrafie - gespleten lip/verhemelte - reductiedefect van ledemaat-syndroom","synonyms":["Syndroom van Medeira-Dennis-Donnai"],"definition":"Een zeldzaam ontwikkelingsdefect tijdens de embryogenese gekarakteriseerd door spinale dysrafie, gespleten lip en verhemelte, ledemaatreductiedefecten en anencefalie. Sinds 1994 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Sindrome de disrafismo-fenda do lábio/palato-defeitos de redução dos membros","synonyms":["Síndrome Medeira-Dennis-Donnai"]},"pl":{"name":"Zespół Medeira, Dennisa i Donnai","synonyms":["Dysrafizm - rozszczep wargi/podniebienia - wady redukcji/amputacji kończyn"]},"cs":{"name":"Medeirové-Dennisův-Donnaiové syndrom","synonyms":["Syndrom zahrnující dysrafismus, rozštěp rtu/patra a redukční defekty končetin","Medeira-Dennis-Donnaiové syndrom"]},"uk":{"name":"Синдром дисрафізму-розщілини губи/піднебіння-редукції кінцівок","synonyms":["Синдром Медейри-Денніса-Доннаї"],"definition":"A rare developmental defect during embryogenesis disorder characterized by spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. There have been no further descriptions in the literature since 1994."},"zh":{"name":"唇裂/腭裂肢体复位缺损综合征","synonyms":["Medeira-Dennis-Donnai综合征"]},"tr":{"name":"Disrafizm-yarık dudak / damak-ekstremite redüksiyon defektleri sendromu","synonyms":["Medeira-Dennis-Donnai sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q00.0","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016604","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679624","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3438","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":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"7981865[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7981865[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002323","label":"Anencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004397","label":"Ectopic anus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001543","label":"Gastroschisis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very frequent (99-80%)","criteria":null}]}}