{"orpha":89844,"name":"Lissencephaly syndrome, Norman-Roberts type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Microlissencephaly type A"],"definition":"Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-89844/","orphanet_url":"https://www.orpha.net/en/disease/detail/89844","names":{"fr":{"name":"Lissencéphalie type Norman-Roberts","synonyms":["Microlissencéphalie type A"],"definition":"La lissencéphalie type Norman-Roberts est caractérisée par l'association d'une lissencéphalie de type 1 avec des anomalies crâniofaciales (microcéphalie sévère, rétrécissement bitemporal, racine du nez large et hypertélorisme) et un retard de croissance postnatal."},"de":{"name":"Lissenzephalie-Syndrom Typ Norman-Roberts","definition":"Der Typ Norman-Roberts des Lissenzephalie-Syndroms ist gekennzeichnet durch eine Lissenzephalie Typ I mit kranio-fazialen Anomalien (schwere Mikrozephalie; flache, schräge Stirn; breiter, hoher Nasenrücken; weiter Augenabstand) und postnatal verzögertem Wachstum. Schwere Intelligenzminderung, spastische Parese und zerebrale Krämpfe sind weitere Symptome."},"es":{"name":"Síndrome de lisencefalia tipo Norman-Roberts","definition":"La lisencefalia de tipo Norman-Roberts se caracteriza por la asociación de lisencefalia de tipo 1 con anomalías craneofaciales (microcefalia grave, estrechamiento bitemporal, puente nasal ancho y prominente e hipertelorismo) y retraso en el crecimiento postnatal."},"it":{"name":"Sindrome lissencefalica, tipo Norman-Roberts","synonyms":["Microlissencefalia, tipo A"]},"nl":{"name":"Lissencefaliesyndroom, Norman-Roberts-type","synonyms":["Microlissencefalie type A"],"definition":"Lissencefalie-syndroom, Norman-Roberts-type wordt gekenmerkt door de associatie van lissencefalie type I met craniofaciale anomalieën (ernstige microcefalie, laag hellend voorhoofd, brede en prominente neusbrug, en ver uit elkaar liggende ogen) en postnatale groeiretardatie."},"pt":{"name":"Síndrome de lisencefalia tipo Norman-Roberts","definition":"A síndrome de lisencefalia tipo Norman-Roberts é caracterizada por associação de lisencefalia tipo I com anomalias craniofaciais (microcefalia grave, fronte baixa e inclinada, uma ponte nasal ampla e proeminente e olhos afastados) e atraso de crescimento pós-natal."},"pl":{"name":"Zespół lizencefalii typu Normana-Robertsa","synonyms":["Mikrolizencefalia typu A"]},"cs":{"name":"Lissencefalický syndrom, Normanové-Robertsové typ","synonyms":["Mikrolissencefalie, typ A","Lissencefalický syndrom, Norman-Robertsové typ"]},"uk":{"name":"Синдром лісенцефалії, тип Нормана-Робертса","synonyms":["Мікроліцефалія типу А"],"definition":"Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation."},"zh":{"name":"无脑回畸形综合征，Norman-Roberts型","synonyms":["小头畸形A型"]},"tr":{"name":"Lizensefali sendromu, Norman-Roberts tipi","synonyms":["Mikrolizensefali tip A"]}},"xrefs":[{"source":"OMIM","code":"257320","qualifier":"E","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":"164166454"},{"source":"MONDO","code":"0009760","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537848","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796089","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1083,"name":"Microlissencephaly","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"KATNB1","name":"katanin regulatory subunit B1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25521378[PMID]_25521379[PMID]","hgnc":"6217","ensembl":"ENSG00000140854","omim":"602703","loci":["16q21"]},{"symbol":"NDE1","name":"nudE neurodevelopment protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21529751[PMID]_21529752[PMID]","hgnc":"17619","ensembl":"ENSG00000072864","omim":"609449","loci":["16p13.11"]},{"symbol":"RELN","name":"reelin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10973257[PMID]","hgnc":"9957","ensembl":"ENSG00000189056","omim":"600514","loci":["7q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-06","source":"25927602[PMID]_17367103[PMID]","terms":[{"hpo":"HP:0006818","label":"4-layered lissencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045028","label":"Microlissencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011451","label":"Primary microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003808","label":"Abnormal muscle tone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002683","label":"Abnormality of the calvaria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012736","label":"Profound global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000350","label":"Small forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000479","label":"Abnormal retinal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006270","label":"Hypoplastic spleen","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001838","label":"Rocker bottom foot","frequency":"Occasional (29-5%)","criteria":null}]}}