{"orpha":443162,"name":"NDE1-related microhydranencephaly","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MHAC"],"definition":"NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-443162/","orphanet_url":"https://www.orpha.net/en/disease/detail/443162","names":{"fr":{"name":"Microhydranencéphalie associée à NDE1","synonyms":["MHAC"],"definition":"Syndrome héréditaire rare avec malformation du système nerveux central comme manifestation majeure caractérisé par une microcéphalie extrême et un retard de croissance, un retard moteur et un retard mental sévères, ainsi que par des signes radiologiques typiques de dilatation grossière des ventricules résultant de l'absence (ou d'un retard sévère de développement) des hémisphères cérébraux, d'une hypoplasie du corps calleux, du cervelet et du tronc cérébral. Les caractéristiques associées sont des os graciles et des rugosités du cuir chevelu."},"de":{"name":"NDE1-bedingte Mikrohydranenzephalie","synonyms":["MHAC"]},"es":{"name":"Microhidranencefalia asociada al gen NDE1","synonyms":["MHAC"],"definition":"Es un síndrome hereditario poco frecuente, que tiene como rasgo principal una malformación del sistema nervioso central caracterizada por microcefalia extrema y restricción del crecimiento y retraso psicomotor grave así como hallazgos radiológicos típicos, como gran dilatación de los ventrículos derivada de la ausencia (o retraso grave del desarrollo) de los hemisferios cerebrales, hipoplasia del cuerpo calloso, cerebelo y tronco cerebral. Otras características descritas incluyen huesos delgados y cuero cabelludo arrugado."},"it":{"name":"Microidranencefalia correlata a NDE1","synonyms":["MHAC"],"definition":"La microidranencefalia correlata a NDE1 è una malattia ereditaria rara che ha, come caratteristica principale, una malformazione del sistema nervoso centrale, associata a microcefalia molto marcata, ritardo della crescita, grave ritardo motorio e ritardo mentale. Le radiografie evidenziano una ampia dilatazione dei ventricoli secondaria all'assenza (o al grave ritardo dello sviluppo) degli emisferi cerebrali, e l'ipoplasia del corpo calloso, del cervelletto e del tronco encefalico. Altri segni clinici sono l'assottigliamento delle ossa e l'aspetto rugoso del cuoio capelluto."},"nl":{"name":"NDE1-gerelateerde microhydranencefalie","synonyms":["MHAC"],"definition":"NDE1-gerelateerde microhydranencefalie is een zeldzaam, erfelijk syndroom met een malformatie van het centrale zenuwstelsel als hoofdkenmerk, en wordt gekarakteriseerd door extreme microcefalie en groeirestrictie, ernstige motorische achterstand en mentale retardatie, en typische radiologische bevindingen met extreme dilatatie van de ventrikels als gevolg van de afwezigheid (of ernstige vertraging van de ontwikkeling) van de cerebrale hemisferen, en hypoplasie van het corpus callosum, het cerebellum, en de hersenstam. Geassocieerde kenmerken zijn dunne botten en gerimpelde hoofdhuid (rugae)."},"pt":{"name":"Microhidranencefalia NDE1- relacionada"},"pl":{"name":"Mikrohydranencefalia zależna od NDE1","synonyms":["MHAC"]},"cs":{"name":"NDE1-vázaná mikrohydranencefalie","synonyms":["MHAC"]},"uk":{"name":"Мікрогідраненцефалія, повязана з NDE1","synonyms":["MHAC"],"definition":"NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae."},"zh":{"name":"NDE1相关微积水性无脑","synonyms":["MHAC"],"definition":"与NDE1相关的积水性无脑是一种罕见的遗传性综合征，以中枢神经系统畸形为主要特征，其特征是严重的小头畸形和生长受限，严重的运动迟缓和智力低下，以及因大脑半球组织缺乏导致的脑室显著增宽（或严重的发育延迟），胼胝体发育不全，小脑和脑干发育不全。其他相关特征是骨头薄和头皮皱纹。"},"tr":{"name":"NDE1-ilişkili mikrohidranensefali","synonyms":["MHAC"]}},"xrefs":[{"source":"OMIM","code":"605013","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011504","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857977","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10216","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":269567,"name":"Genetic syndrome with a cerebellar malformation as a major feature","classifications":[156]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]},{"orpha":269523,"name":"Syndrome with a cerebellar malformation as a major feature","classifications":[147,181]},{"orpha":269528,"name":"Syndrome with microcephaly as a major feature","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"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"22526350[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22526350[PMID]"}],"phenotypes":null}