{"orpha":51577,"name":"Cobblestone lissencephaly","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Lissencephaly type 2"],"definition":"A rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-51577/","orphanet_url":"https://www.orpha.net/en/disease/detail/51577","names":{"fr":{"name":"Lissencéphalie pavimenteuse","synonyms":["Lissencéphalie type 2"],"definition":"Malformation rare du système nerveux central qui comprend un groupe de maladies caractérisées par un aspect bosselé (ou granuleux) du cortex cérébral, associée à un épaississement du cortex, à un effacement plus ou moins marqué des sillons, à une ventriculomégalie et à une substance blanche réduite et anormale, ainsi qu'à une hypoplasie du tronc cérébral et du cervelet et à une agénésie du corps calleux. Les patients présentent généralement un retard de développement, une hypotonie et des anomalies oculaires de degré variable, bien que l'atteinte musculaire et oculaire puisse être absente."},"de":{"name":"Cobblestone-Lissenzephalie","synonyms":["Kopfsteinpflaster-Dysplasie","Lissenzephalie Typ 2"],"definition":"Eine seltene Fehlbildung des Zentralnervensystems, die eine Gruppe von Krankheiten umfasst, die durch eine unebene oder granuläre Struktur der Oberfläche des Gehirns gekennzeichnet sind, verbunden mit einer verdickten Rinde, flachen Furchen (daher der Pflasterstein-Aspekt), einer Ventrikulomegalie und einer reduzierten, abnormen weißen Substanz sowie einer Hypoplasie des Hirnstamms und des Kleinhirns und einer Agenesie des Corpus callosum. Die Patienten weisen in der Regel Entwicklungsverzögerungen unterschiedlichen Ausmaßes, Hypotonie und Augenanomalien auf, es kann jedoch auch sein, dass die Muskulatur und die Augen nicht betroffen sind."},"es":{"name":"Lisencefalia en empedrado","synonyms":["Lisencefalia tipo 2"],"definition":"Es una malformación poco frecuente del sistema nervioso central que comprende un grupo de enfermedades caracterizadas por una apariencia granular (o en empedrado) de la corteza cerebral, asociada a engrosamiento cortical, reducción de la sulcación normal, ventriculomegalia y sustancia blanca reducida y anómala, así como hipoplasia del tronco encefálico y del cerebelo, y agenesia del cuerpo calloso. Por lo general, los pacientes presentan un grado variable de retraso del desarrollo psicomotor, hipotonía y anomalías oculares, aunque la afectación muscular y ocular puede estar ausente."},"it":{"name":"Lissencefalia con aspetto acciottolato","synonyms":["Lissencefalia, tipo 2"],"definition":"Si tratta di una malformazione rara del sistema nervoso centrale, che comprende un gruppo di malattie caratterizzate da un aspetto irregolare (o acciottolato) della corteccia cerebrale, associato ad un ispessimento della corteccia, alla riduzione dei solchi, alla ventricolomegalia, alla riduzione della sostanza bianca che presenta anomalie, all'ipoplasia del tronco encefalico e del cervelletto, e all'agenesia del corpo calloso. Di solito i pazienti presentano ritardo dello sviluppo di grado variabile, ipotonia ed anomalie oculari, ma possono anche non presentare un coinvolgimento muscolare o oculare."},"nl":{"name":"Cobblestone-lissencefalie","synonyms":["Lissencefalie type 2"],"definition":"Een zeldzame malformatie van centraal zenuwstelsel bestaande uit een groep van ziekten die gekarakteriseerd worden door een hobbelig (of gegranuleerd) uiterlijk van de hersenschors, geassocieerd met een verdikte cortex, reductie van normale groeven, ventriculomegalie en verminderde, abnormale witte stof, alsook hypoplasie van hersenstam en cerebellum en agenesie van corpus callosum. Patiënten vertonen doorgaans variabele gradaties van ontwikkelingsachterstand, hypotonie en oogafwijkingen, hoewel musculaire en oculaire betrokkenheid echter afwezig kunnen zijn."},"pt":{"name":"Lisencefalia tipo 2","synonyms":["Lisencefalia com aspeto de seixo"]},"pl":{"name":"Lizencefalia o typie kostki brukowej","synonyms":["Lizencefalia typu 2"]},"cs":{"name":"Lissencefalie, typ 2","synonyms":["Cobblestone lissencefalie"]},"uk":{"name":"Лізенцефалія у вигляді бруківки","synonyms":["Лісенцефалія 2 типу"],"definition":"A rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent."},"zh":{"name":"鹅卵石无脑回畸形","synonyms":["无脑回畸形2型"]},"tr":{"name":"Arnavut kaldırımı lizensefali","synonyms":["Lizensefali tip 2"]}},"xrefs":[{"source":"ICD-11","code":"LD20.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1508227584"},{"source":"MONDO","code":"0018869","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18869","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054222","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0431376","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3277","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":48471,"name":"Lissencephaly","classifications":[147,156,181]}],"children":[{"orpha":352682,"name":"Cobblestone lissencephaly without muscular or ocular involvement","type":"Disease"},{"orpha":352687,"name":"Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}