{"orpha":59315,"name":"Isolated rhombencephalosynapsis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare cerebellar malformation characterized by congenital complete or partial fusion of the cerebellar hemispheres, dentate nuclei, and middle cerebellar peduncles, and complete or partial absence of the vermis. It may occur as an isolated anomaly or with other malformations of the brain.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-59315/","orphanet_url":"https://www.orpha.net/en/disease/detail/59315","names":{"fr":{"name":"Rhombencéphalosynapsis isolée","definition":"Malformation cérébelleuse rare caractérisée par une fusion partielle ou complète congénitale des hémisphères cérébelleux, des noyaux dentelés et des pédoncules cérébelleux, ainsi que par une absence partielle ou complète du vermis. Elle peut survenir sous forme d'anomalie isolée ou avec d'autres malformations cérébrales."},"de":{"name":"Rhombencephalosynapsis, isolierte","definition":"Eine seltene Fehlbildung des Kleinhirns, die durch eine angeborene vollständige oder teilweise Verschmelzung der Kleinhirnhemisphären, der dentaten Kerne und der mittleren Kleinhirnstiele sowie durch das vollständige oder teilweise Fehlen des Kleinhirnwurms gekennzeichnet ist. Sie kann als isolierte Anomalie oder zusammen mit anderen Fehlbildungen des Gehirns auftreten."},"es":{"name":"Romboencefalosinapsis aislada","definition":"Es una malformación cerebelosa poco frecuente caracterizada por fusión congénita completa o parcial de los hemisferios cerebelosos, núcleos dentados y pedúnculos cerebelosos medios, y ausencia total o parcial del vermis. Puede ocurrir como una anomalía aislada o junto con otras malformaciones cerebrales."},"it":{"name":"Rombencefalosinapsi isolata"},"nl":{"name":"Geïsoleerde rombencefalosynapsis","definition":"Een zeldzame malformatie van cerebellum, gekenmerkt door congenitale volledige of gedeeltelijke fusie van cerebellaire hemisferen, nuclei dentati en middelste pedunculus cerebellaris, en volledige of gedeeltelijke afwezigheid van vermis. Het kan optreden als een geïsoleerde anomalie of met andere malformaties van de hersenen."},"pt":{"name":"Rhombencefalossinapsis","synonyms":["Rombencefalossinapse"],"definition":"Malformação cerebelar rara caracterizada por fusão congénita completa ou parcial dos hemisférios cerebelares, núcleos dentados e pedúnculos cerebelares médios, e ausência completa ou parcial do vermis. Pode ocorrer como uma anomalia isolada ou com outras malformações do cérebro."},"pl":{"name":"Rhombencephalosynapsis - aplazja robaka z połączeniem półkul móżdżku"},"cs":{"name":"Rhombencefalosynapse"},"uk":{"name":"Ромбенцефалосинапсис","definition":"A rare cerebellar malformation characterized by congenital complete or partial fusion of the cerebellar hemispheres, dentate nuclei, and middle cerebellar peduncles, and complete or partial absence of the vermis. It may occur as an isolated anomaly or with other malformations of the brain."},"zh":{"name":"菱脑融合"},"tr":{"name":"Rombensefalosinapsis"}},"xrefs":[{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA06.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2112180041"},{"source":"MONDO","code":"0018946","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866130","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10090354","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":729527,"name":"Isolated cerebellar malformation","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"25816977[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25816977[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"819057916[PMID]","terms":[{"hpo":"HP:0100321","label":"Abnormality of the dentate nucleus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002335","label":"Agenesis of cerebellar vermis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006899","label":"Fusion of the cerebellar hemispheres","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010664","label":"Fusion of the left and right thalami","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100842","label":"Septo-optic dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012210","label":"Abnormal renal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000130","label":"Abnormality of the uterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009943","label":"Complete duplication of thumb phalanx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002032","label":"Esophageal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010442","label":"Polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009803","label":"Short phalanx of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Occasional (29-5%)","criteria":null}]}}