{"orpha":86821,"name":"Lissencephaly type 3-familial fetal akinesia sequence syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86821/","orphanet_url":"https://www.orpha.net/en/disease/detail/86821","names":{"fr":{"name":"Syndrome de lissencéphalie type 3-séquence d'akinésie foetale familiale","definition":"Syndrome de lissencéphalie type 3-séquence d'akinésie foetale familiale est caractérisé par l'association d'une microcéphalie, d'une agénésie du corps calleux, d'une hypoplasie du tronc cérébral, de lésions kystiques du cervelet, et d'une séquence d'akinésie foetale. Moins de 10 cas ont été décrits à ce jour. Ce syndrome, qui se transmet sur le mode autosomique récessif, pourrait être un variant allélique du syndrome de Neu-Laxova et de la lissencéphalie de type III avec dysplasie métacarpienne."},"de":{"name":"Lissenzephalie Typ 3-familiäre fetale Akinesie-Sequenz-Syndrom","definition":"Dieses Syndrom ist gekennzeichnet durch Mikrozephalie, Agenesie des Corpus callosum, Hypoplasie des Hirnstamms, Kleinhirnzysten und fetale Aknesie-Sequenz. Weniger als 10 Fälle wurden bisher beschrieben. Es wird autosomal-rezessiv vererbt und ist evtl.eine allelische Variante des Neu-Laxova-Syndroms und der Lissenzephalie Typ III mit metakarpaler Knochendysplasie."},"es":{"name":"Síndrome de lisencefalia tipo 3-secuencia de aquinesia fetal familiar","definition":"Es un síndrome caracterizado por la asociación de microencefalia, agenesia del cuerpo calloso, hipoplasia del tronco cerebral, cerebelo quístico y secuencia de acinesia fetal. Hasta la fecha se han descrito menos de 10 casos. El síndrome se transmite como un rasgo autosómico recesivo y podría ser una variante alélica del síndrome de Neu-Laxova y lisencefalia tipo III con displasia del hueso metacarpiano."},"it":{"name":"Lissencefalia tipo 3 - sequenza dell'acinesia fetale familiare"},"nl":{"name":"Lissencefalie type 3 - familiale foetale akinesie sequentie-syndroom","definition":"Lissencefalie type 3 - familiale foetale akinesie sequentie-syndroom wordt gekenmerkt door de associatie van micro-encefalie, agenesie van corpus callosum, hypoplasie van hersenstam, cystisch cerebellum, en foetale akinesie-sequentie. Tot op heden werden minder dan 10 gevallen beschreven. Het syndroom wordt overgedragen als een autosomaal recessief kenmerk, en is mogelijk een allelische variant van syndroom van Neu-Laxova en lissencefalie type III met metacarpale botdysplasie."},"pt":{"name":"Síndrome de lisencefalia tipo 3-sequência de acinesia fetal familiar"},"pl":{"name":"Lizencefalia typu 3 - rodzinna sekwencja akinezji płodu"},"cs":{"name":"Syndrom zahrnující lissencefalii typu 3 a sekvenci familiární fetální akineze"},"uk":{"name":"Синдром лісенцефалії 3-го типу-сімейної послідовності акінезії плода","definition":"Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia (see these terms)."},"zh":{"name":"无脑回畸形3型-家族性胎儿运动机能丧失序列综合征"},"tr":{"name":"Lizensefali tip 3-ailesel fetal akinezi dizi sendromu"}},"xrefs":[{"source":"OMIM","code":"601160","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"958288618"},{"source":"MONDO","code":"0019449","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305255","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":102011,"name":"Lissencephaly type 3","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"8779318[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8779318[PMID]"}],"phenotypes":null}