{"orpha":2177,"name":"Hydranencephaly","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare cerebral malformation characterized by an almost or complete lack of cortex, specifically the cerebral hemispheres, with the cranium and meninges completely intact. In most cases, death occurs in utero or in the first weeks of life. Developmental delay, drug-resistant seizures, spastic diplegia, severe growth failure, deafness and blindness are typical.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2177/","orphanet_url":"https://www.orpha.net/en/disease/detail/2177","names":{"fr":{"name":"Hydranencéphalie","definition":"Malformation cérébrale rare caractérisée par l'absence quasi complète ou complète du cortex, notamment des hémisphères cérébraux, épargnant le crâne et les méninges. Dans la plupart des cas, le décès survient <i>in utero</i> ou au cours des premières semaines de vie. Un retard de développement, des convulsions pharmacorésistantes, une diplégie spastique, un retard de croissance sévère, une surdité et une cécité sont des signes typiques."},"de":{"name":"Hydranenzephalie","definition":"Eine seltene zerebrale Fehlbildung, die durch ein fast oder vollständiges Fehlen der Großhirnrinde, insbesondere der Großhirnhemisphären, gekennzeichnet ist, wobei der Schädel und die Hirnhäute völlig intakt sind. In den meisten Fällen tritt der Tod bereits im Mutterleib oder in den ersten Lebenswochen ein. Typisch sind Entwicklungsverzögerungen, arzneimittelresistente Krampfanfälle, spastische Diplegie, schwere Wachstumsstörungen, Taubheit und Blindheit."},"es":{"name":"Hidranencefalia","definition":"Es una malformación cerebral poco frecuente caracterizada por la ausencia cerebral total o parcial de corteza que afecta específicamente a los hemisferios cerebrales, quedando el cráneo y las meninges completamente intactos. En la mayoría de los casos, la muerte ocurre en el útero o durante las primeras semanas de vida. Típicamente la enfermedad se presenta con retraso del desarrollo, crisis epilépticas fármacorresistentes, diplejía espástica, déficit grave de crecimiento, sordera y ceguera."},"it":{"name":"Idranencefalia","definition":"È una malformazione cerebrale rara, caratterizzata dall'aplasia completa o pressoché completa della corteccia degli emisferi cerebrali, con cranio e meningi completamente intatti. Nella maggior parte dei pazienti, la morte avviene in utero o nelle prime settimane di vita. Sono caratteristici il ritardo dello sviluppo, le crisi epilettiche resistenti ai farmaci, la diplegia spastica, il grave ritardo della crescita, la sordità e la cecità."},"nl":{"name":"Hydranencefalie","definition":"Een zeldzame cerebrale malformatie die gekarakteriseerd wordt door een bijna volledig of volledig gebrek aan cortex, vooral de cerebrale hemisferen, en een volledig intacte schedel en volledig intacte hersenvliezen. In de meeste gevallen vindt overlijden in utero of tijdens de eerste levensweken plaats. Ontwikkelingsachterstand, drugresistente insulten, spastische diplegie, ernstig groeifalen, doofheid en blindheid zijn typisch."},"pt":{"name":"Hidranencefalia"},"pl":{"name":"Hydranencefalia"},"cs":{"name":"Hydranencefalie"},"uk":{"name":"Гідраненцефалія","definition":"A rare cerebral malformation characterized by an almost or complete lack of cortex, specifically the cerebral hemispheres, with the cranium and meninges completely intact. In most cases, death occurs in utero or in the first weeks of life. Developmental delay, drug-resistant seizures, spastic diplegia, severe growth failure, deafness and blindness are typical."},"zh":{"name":"积水型无脑畸形"},"tr":{"name":"Hidranensefali"}},"xrefs":[{"source":"OMIM","code":"605013","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA05.62","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1963574608"},{"source":"MONDO","code":"0016344","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006832","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0020225","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6681","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10073472","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269190,"name":"Encephaloclastic disorder","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"NDE1","name":"nudE neurodevelopment protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22526350[PMID]","hgnc":"17619","ensembl":"ENSG00000072864","omim":"609449","loci":["16p13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Worldwide","status":"Validated","source":"10207424[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":"1-9 / 100 000","value":2.1,"area":"Japan","status":"Validated","source":"26545857[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.8,"area":"United States","status":"Validated","source":"18383510[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-07-09","source":"12858931[PMID]_23337012[PMID]_6075814[PMID]_18201820[PMID]_23632619[PMID]_27876178[PMID]_25326191[PMID]_22610272[PMID]","terms":[{"hpo":"HP:0010994","label":"Abnormal corpus striatum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008610","label":"Infantile sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009145","label":"Abnormal cerebral artery morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010652","label":"Abnormal dura mater morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:3000062","label":"Abnormal internal carotid artery morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011328","label":"Abnormality of fontanelles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007023","label":"Antenatal intracerebral hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410279","label":"Atrophic pituitary gland","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006698","label":"Dilatation of the ventricular cavity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025099","label":"Dysgenesis of the thalamus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025517","label":"Hypoplastic hippocampus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002179","label":"Opisthotonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001264","label":"Spastic diplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025258","label":"Stiff neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025040","label":"Thalamic edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000533","label":"Chorioretinal atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011451","label":"Primary microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}