{"orpha":86823,"name":"Lissencephaly with cerebellar hypoplasia","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["LCH"],"definition":"Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86823/","orphanet_url":"https://www.orpha.net/en/disease/detail/86823","names":{"fr":{"name":"Lissencéphalie avec hypoplasie cérébelleuse","synonyms":["LHC"],"definition":"Variante de la lissencéphalie comprenant un groupe hétérogène de malformations corticales en l'absence de microcéphalie congénitale sévère (> -3 SD). La lissencéphalie avec hypoplasie cérébelleuse (LHC) se caractérise par un cervelet insuffisamment développé allant d'une hypoplasie du vermis cérébelleux à une aplasie totale avec lissencéphalie classique ou en pavés. Les caractéristiques phénotypiques de la LHC comprennent un petit périmètre crânien (entre -2 et -3 déviations standards (SD) par rapport à l'âge) d'apparition congénitale ou postnatale, une déficience intellectuelle modérée à sévère, une hypotonie et une spasticité. Les patients présentent souvent des crises d'épilepsie, alors que les spasmes infantiles sont rares. La LHC a été a été subdivisée en six sous-groupes (allant de A à F) sur la base de l'imagerie neuroradiologique diagnostique."},"de":{"name":"Lissenzephalie mit zerebellärer Hypoplasie","synonyms":["LCH"],"definition":"Lissenzephalie mit Kleinhirnhypoplasie (LCH) ist eine variante Form der Lissenzephalie und umfasst eine heterogene Gruppe von kortikalen Fehlbildungen ohne schwere kongenitale Mikrozephalie (>-3 SD). LCH ist durch eine zerebelläre Unterentwicklung gekennzeichnet, die von einer Vermis-Hypoplasie bis zu einer totalen Aplasie mit klassischer oder Kopfsteinpflaster-Lissenzephalie reicht. Zu den phänotypischen Merkmalen der LCH gehören ein kleiner Kopfumfang (zwischen -2 und -3 Standardabweichungen (SD)) bei der Geburt und postnatal, mäßige bis schwere Intelligenzminderung, Hypotonie und Spastik. Krampfanfälle werden häufig beobachtet und in einigen seltenen Fällen wurde über infantile Spastiken berichtet. LCH wurde anhand der neuroradiographischen Eigenschaften in sechs Untergruppen eingeteilt und in LCH Typ A bis F klassifiziert."},"es":{"name":"Lisencefalia con hipoplasia cerebelosa","synonyms":["LCH"],"definition":"La lisencefalia con hipoplasia cerebelosa (LHC) es una variante de la lisencefalia e integra un grupo heterogéneo de malformaciones corticales sin microcefalia congénita grave (>3 DE). La LHC se caracteriza por un infradesarrollo cerebelosa que varía desde la hipoplasia vermiana hasta la aplasia total con lisencefalia clásica o ''en empedrado''. Los rasgos fenotípicos de la LHC incluyen un perímetro cefálico pequeño (entre -2 y -3 desviaciones estándar (DE)) al nacimiento y en el periodo postnatal, discapacidad intelectual de moderada a grave, hipotonía y espasticidad. A menudo se observa crisis y de forma excepcional se ha descrito espasmos infantiles. La LHC ha sido clasificada en seis subgrupos (tipo A a F) en función de las propiedades neurorradiográficas."},"it":{"name":"Lissencefalia con ipoplasia cerebellare","synonyms":["LCH"],"definition":"La lissencefalia con ipoplasia cerebellare (LHC) è una variante della lissencefalia, che comprende un gruppo eterogeneo di malformazioni corticali, in assenza di microcefalia congenita grave (>-3 DS). La LHC è caratterizzata da iposviluppo del cervelletto, che va dall'ipoplasia del verme fino all'aplasia completa con lissencefalia classica o con aspetto acciottolato. I segni clinici comprendono la riduzione della circonferenza cranica (tra -2 e -3 deviazioni standard rispetto all'età) congenita o ad esordio postnatale, la disabilità intellettiva moderata-grave, l'ipotonia e la spasticità. Spesso i pazienti presentano crisi epilettiche, mentre sono rari gli spasmi infantili. La LCH è stata suddivisa in sei sottogruppi (LCH tipo A, B, C, D, E, F) sulla base delle immagini diagnostiche."},"nl":{"name":"Lissencefalie met cerebellaire hypoplasie","synonyms":["LCH"],"definition":"Een variante vorm van lissencefalie die een heterogene groep van corticale malformaties zonder ernstige congenitale microcefalie (minstens 3 standaarddeviaties) omvat. Lissencefalie met cerebellaire hypoplasie (LCH) wordt gekenmerkt door onderontwikkeling van cerebellum, gaande van hypoplasie van vermis tot volledige aplasie met klassieke of 'cobblestone'-lissencefalie. Fenotypische kenmerken van LCH zijn onder meer kleine hoofdomtrek (tussen -2 en -3 standaarddeviaties) bij de geboorte en postnataal, matige tot ernstige intellectuele achterstand, hypotonie, en spasticiteit. Insulten worden vaak waargenomen, en in enkele zeldzame gevallen werden infantiele spasmen gerapporteerd. LCH werd geclassificeerd in zes subgroepen gaande van LCH type A tot F, op basis van neuroradiografische eigenschappen."},"pt":{"name":"Lisencefalia com hipoplasia do cerebelo"},"pl":{"name":"Lizencefalia z hipoplazją móżdżku","synonyms":["LCH"]},"cs":{"name":"Lissencefalie s hypoplázií mozečku","synonyms":["LCH"]},"uk":{"name":"Лісенцефалія з гіпоплазією мозочка","synonyms":["LCH"],"definition":"Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F."},"zh":{"name":"无脑回畸形伴小脑发育不全","synonyms":["LCH"]},"tr":{"name":"Serebellar hipoplazi ile seyreden lizensefali","synonyms":["LCH"]}},"xrefs":[{"source":"MONDO","code":"0019450","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19450","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274995","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":100011,"name":"Lissencephaly with cerebellar hypoplasia type A","type":"Malformation syndrome"},{"orpha":100012,"name":"Lissencephaly with cerebellar hypoplasia type B","type":"Malformation syndrome"},{"orpha":100013,"name":"Lissencephaly with cerebellar hypoplasia type C","type":"Malformation syndrome"},{"orpha":100014,"name":"Lissencephaly with cerebellar hypoplasia type D","type":"Malformation syndrome"},{"orpha":100015,"name":"Lissencephaly with cerebellar hypoplasia type E","type":"Malformation syndrome"},{"orpha":100016,"name":"Lissencephaly with cerebellar hypoplasia type F","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"18521588[PMID]"}],"phenotypes":null}