{"orpha":2185,"name":"Congenital hydrocephalus","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare central nervous system malformation characterized by abnormally enlarged cerebral ventricles due to impaired cerebrospinal fluid circulation. It arises in utero and can be either acquired or inherited. The severity of the resulting brain damage depends on the duration and extent of ventriculomegaly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2185/","orphanet_url":"https://www.orpha.net/en/disease/detail/2185","names":{"fr":{"name":"Hydrocéphalie congénitale","definition":"Malformation rare du système nerveux central caractérisée par une augmentation anormale du volume des ventricules cérébraux, en raison d'une circulation altérée du liquide cérébrospinal. Elle survient <i>in utero</i> et peut être acquise ou héréditaire. La sévérité des dommages cérébraux qui en résultent dépend de la durée et de l'ampleur de la ventriculomégalie."},"de":{"name":"Hydrozephalus, kongenitaler","definition":"Eine seltene Fehlbildung des Zentralnervensystems, die durch eine abnorme Vergrößerung der Hirnventrikel infolge einer Störung des Liquorflusses gekennzeichnet ist. Sie entsteht <i>in utero</i> und kann erworben oder vererbt sein. Der Schweregrad der daraus resultierenden Hirnschädigung hängt von der Dauer und dem Ausmaß der Ventrikulomegalie ab."},"es":{"name":"Hidrocefalia congénita","definition":"Es una malformación poco frecuente del sistema nervioso central caracterizada por el agrandamiento anómalo de los ventrículos cerebrales debido a una alteración en la circulación del líquido cefalorraquídeo. Se inicia en el periodo intrauterino y puede ser adquirida o heredada. La gravedad del daño cerebral resultante depende de la duración y de la extensión de la ventriculomegalia."},"it":{"name":"Idrocefalo congenito","definition":"Si tratta di una malformazione rara del sistema nervoso centrale, caratterizzata da una dilatazione anomala dei ventricoli cerebrali causata dalla compromissione della circolazione del liquido cerebrospinale. La malattia esordisce in utero, oppure è acquisita o ereditaria. La gravità del conseguente danno cerebrale dipende dalla durata e dall'ampiezza della ventricolomegalia."},"nl":{"name":"Congenitale hydrocefalie","synonyms":["Aangeboren waterhoofd","Congenitale hydrocefalus"],"definition":"Een zeldzame malformatie van centraal zenuwstelsel, gekarakteriseerd door abnormaal grote hersenventrikels als gevolg van verstoorde circulatie van cerebrospinaal vocht. Het ontstaat <i>in utero</i> en kan verworven zijn of overgeërfd worden. De ernst van de resulterende hersenschade hangt af van de duur en mate van ventriculomegalie."},"pt":{"name":"Hidrocefalia congénita"},"pl":{"name":"Wodogłowie wrodzone"},"cs":{"name":"Vrozený hydrocefalus"},"uk":{"name":"Вроджена гідроцефалія","definition":"A rare central nervous system malformation characterized by abnormally enlarged cerebral ventricles due to impaired cerebrospinal fluid circulation. It arises in utero and can be either acquired or inherited. The severity of the resulting brain damage depends on the duration and extent of ventriculomegaly."},"zh":{"name":"先天性脑积水"},"tr":{"name":"Doğumsal hidrosefali"}},"xrefs":[{"source":"OMIM","code":"236600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615219","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617967","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618570","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q03.0","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q03.1","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q03.8","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q03.9","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA04","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1878746673"},{"source":"MONDO","code":"0016349","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0020256","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6682","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10010506","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98044,"name":"Central nervous system malformation","classifications":[147,181]},{"orpha":183506,"name":"Genetic central nervous system malformation","classifications":[156]}],"children":[{"orpha":269505,"name":"Congenital communicating hydrocephalus","type":"Clinical subtype"},{"orpha":269510,"name":"Congenital non-communicating hydrocephalus","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"CCDC88C","name":"coiled-coil and HOOK domain protein 88C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21031079[PMID]_23042809[PMID]","hgnc":"19967","ensembl":"ENSG00000015133","omim":"611204","loci":["14q32.11-q32.12"],"via":{"orpha":269510,"name":"Congenital non-communicating hydrocephalus"}},{"symbol":"MPDZ","name":"multiple PDZ domain crumbs cell polarity complex component","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23240096[PMID]","hgnc":"7208","ensembl":"ENSG00000107186","omim":"603785","loci":["9p23"],"via":{"orpha":269505,"name":"Congenital communicating hydrocephalus"}},{"symbol":"TRIM71","name":"tripartite motif containing 71","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29983323[PMID]","hgnc":"32669","ensembl":"ENSG00000206557","omim":"618570","loci":["3p22.3"],"via":{"orpha":269505,"name":"Congenital communicating hydrocephalus"}},{"symbol":"WDR81","name":"WD repeat domain 81","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28556411[PMID]","hgnc":"26600","ensembl":"ENSG00000167716","omim":"614218","loci":["17p13.3"],"via":{"orpha":269505,"name":"Congenital communicating hydrocephalus"}},{"symbol":"WDR81","name":"WD repeat domain 81","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28556411[PMID]","hgnc":"26600","ensembl":"ENSG00000167716","omim":"614218","loci":["17p13.3"],"via":{"orpha":269510,"name":"Congenital non-communicating hydrocephalus"}}],"inheritance":["Not applicable"],"onset":["Antenatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":59.0,"area":"United States","status":"Validated","source":"21763944[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":46.5,"area":"Europe","status":"Validated","source":"19410489[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-12","source":"29225145[PMID]_28556411[PMID]_23240096[PMID]","terms":[{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002536","label":"Abnormal cortical gyration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030048","label":"Colpocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002472","label":"Small cerebral cortex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001339","label":"Lissencephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001104","label":"Macular hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very rare (<4-1%)","criteria":null}]}}