{"orpha":217,"name":"Isolated Dandy-Walker malformation","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare non-syndromic central nervous system malformation characterized by the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-217/","orphanet_url":"https://www.orpha.net/en/disease/detail/217","names":{"fr":{"name":"Malformation de Dandy-Walker isolée","synonyms":["Syndrome de Dandy-Walker isolé"],"definition":"Une entité caractérisée par l'association de trois signes : une hydrocéphalie, l'absence partielle ou complète du vermis cérébelleux et un kyste de la fosse postérieure contigu au quatrième ventricule. Elle se manifeste précocement par une hydrocéphalie, un occiput renflé et des signes de la fosse postérieure, tels que des paralysies nerveuses crâniennes, un nystagmus et une ataxie."},"de":{"name":"Dandy-Walker-Fehlbildung, isolierte","definition":"Eine seltene nicht-syndromale Fehlbildung des Zentralnervensystems, die durch das Zusammentreffen von drei Merkmalen gekennzeichnet ist: Hydrozephalus, teilweises oder vollständiges Fehlen des Kleinhirns und eine Zyste in der hinteren Schädelgrube, die an den vierten Ventrikel angrenzt. Sie manifestiert sich im Säuglingsalter mit Hydrozephalus, vorgewölbtem Hinterhaupt und Zeichen der hinteren Schädelgrube wie Hirnnervenlähmung, Nystagmus und Ataxie."},"es":{"name":"Malformación de Dandy-Walker aislada","definition":"Es una malformación poco frecuente y no-sindrómica del sistema nervioso central caracterizada por la asociación de tres signos: hidrocefalia, ausencia parcial o total del vermis cerebeloso y quiste de la fosa posterior con comunicación con el cuarto ventrículo. Se presenta a una edad temprana con hidrocefalia, occipucio abombado y síntomas de afectación de la fosa posterior, tales como parálisis de los nervios craneales, nistagmus y ataxia."},"it":{"name":"Malformazione isolata di Dandy-Walker","definition":"La malformazione isolata di Dandy-Walker (DWM) consiste nell'associazione tra tre segni clinici: l'idrocefalo, l'assenza parziale o completa del verme cerebellare e le cisti della fossa cranica posteriore adiacente al quarto ventricolo. La malattia esordisce precocemente con idrocefalo, occipite prominente e segni della fossa posteriore, come la paralisi dei nervi cranici, il nistagmo e l'atassia."},"nl":{"name":"Geïsoleerde Dandy-Walker malformatie","definition":"Een zeldzame niet-syndromale malformatie van centraal zenuwstelsel, gekenmerkt door de associatie van drie verschijnselen: hydrocefalie, gedeeltelijke of volledige afwezigheid van vermis cerebelli, en cyste van posterieure fossa grenzend aan vierde ventrikel; de aandoening presenteert zich reeds op jonge leeftijd met hydrocefalie, uitpuilend achterhoofd en verschijnselen van posterieure fossa zoals hersenzenuwverlammingen, nystagmus en ataxie."},"pt":{"name":"Malformação de Dandy-Walker isolada"},"pl":{"name":"Izolowana malformacja Dandy'ego i Walkera","definition":"Rzadka niesyndromiczna wada rozwojowa ośrodkowego układu nerwowego, która charakteryzuje się występowaniem trzech objawów: wodogłowia, częściowego lub całkowitego braku robaka móżdżku oraz torbieli dołu tylnego przylegającej do komory czwartej, oraz związanym z tym porażeniem nerwów czaszkowych, oczopląsem i ataksją."},"cs":{"name":"Izolovaná Dandyho-Walkerova malformace","synonyms":["Izolovaná Dandy-Walkerova malformace"]},"uk":{"name":"Ізольована мальформація Денді-Уокера","definition":"A rare non-syndromic central nervous system malformation characterized by the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia."},"zh":{"name":"孤立型丹迪-沃克畸形"},"tr":{"name":"İzole Dandy-Walker malformasyonu"}},"xrefs":[{"source":"OMIM","code":"220200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q03.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA06.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"993088960"},{"source":"MONDO","code":"0009072","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931867","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6242","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":269212,"name":"OBSOLETE: Isolated Dandy-Walker malformation with hydrocephalus","status":"inactive"},{"type":"Referred to","orpha":269215,"name":"OBSOLETE: Isolated Dandy-Walker malformation without hydrocephalus","status":"inactive"}],"preferential_parent":{"orpha":730393,"name":"Genetic isolated posterior fossa cystic malformation"},"parents":[{"orpha":730393,"name":"Genetic isolated posterior fossa cystic malformation","classifications":[156]},{"orpha":729563,"name":"Isolated posterior fossa cystic malformation","classifications":[147,181]}],"children":[],"genes":[{"symbol":"ZIC1","name":"Zic family zinc finger 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"15338008[PMID]_15733262[PMID]_21204220[PMID]_21307096[PMID]","hgnc":"12872","ensembl":"ENSG00000152977","omim":"600470","loci":["3q24"]},{"symbol":"ZIC4","name":"Zic family zinc finger 4","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"15338008[PMID]_15733262[PMID]_21204220[PMID]_21307096[PMID]","hgnc":"20393","ensembl":"ENSG00000174963","omim":"608948","loci":["3q24"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"[EXPERT]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.1,"area":"Europe","status":"Validated","source":"[EXPERT]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-06-03","source":"33168220[PMID]_30855785[PMID]_24132069[PMID]","terms":[{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002691","label":"Platybasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006817","label":"Aplasia/Hypoplasia of the cerebellar vermis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002198","label":"Dilated fourth ventricle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011427","label":"Enlarged fetal cisterna magna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005445","label":"Enlarged posterior fossa","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010952","label":"Mild fetal ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","frequency":"Very rare (<4-1%)","criteria":null}]}}