{"Name":"Lissencephaly with cerebellar hypoplasia","DiseaseID__c":"GARD:0019068","id":19068,"encodedName":"lissencephaly-with-cerebellar-hypoplasia","IsDeleted":false,"Disease_Name_Full__c":"Lissencephaly with cerebellar hypoplasia","Xref_IDs__c":"715817007; C4274995; MEDGEN:905529; MONDO:0019450; ORPHA:86823","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0019450","Disease_Description__c":"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.","GARD_Name__c":"Lissencephaly with cerebellar hypoplasia","GARD_Synonym__c":"lch; lissencephaly co-occurrent with congenital cerebellar hypoplasia","Curated_Disease_Description_Source__c":"MONDO:0019450","Curated_Disease_Description__c":"Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. In addition, the part of the brain that coordinates movement is unusually small and underdeveloped (cerebellar hypoplasia). Other parts of the brain are also often underdeveloped in LCH, including the hippocampus, which plays a role in learning and memory, and the part of the brain that is connected to the spinal cord (the brainstem). Individuals with LCH have moderate to severe intellectual disability and delayed development. They have few or no communication skills, extremely poor muscle tone (hypotonia), problems with coordination and balance (ataxia), and difficulty sitting or standing without support. Most affected children experience recurrent seizures (epilepsy) that begin within the first months of life. Some affected individuals have nearsightedness (myopia), involuntary eye movements (nystagmus), or puffiness or swelling caused by a buildup of fluids in the body's tissues (lymphedema).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:86823","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019450","ORPHANET_ID__c":"ORPHA:86823","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Lisencefalia con hipoplasia cerebelosa","Spanish_Description_Source__c":"ORPHA:86823","Spanish_Description__c":"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.","Spanish_Disease_Name__c":"lisencefalia con hipoplasia cerebelosa","Spanish_GARD_Synonym__c":"lch","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. In addition, the part of the brain that coordinates movement is unusually small and underdeveloped (cerebellar hypoplasia). Other parts of the brain are also often underdeveloped in LCH, including the hippocampus, which plays a role in learning and memory, and the part of the brain that is connected to the spinal cord (the brainstem). Individuals with LCH have moderate to severe intellectual disability and delayed development. They have few or no communication skills, extremely poor muscle tone (hypotonia), problems with coordination and balance (ataxia), and difficulty sitting or standing without support. Most affected children experience recurrent seizures (epilepsy) that begin within the first months of life. Some affected individuals have nearsightedness (myopia), involuntary eye movements (nystagmus), or puffiness or swelling caused by a buildup of fluids in the body's tissues (lymphedema).","Curated_Disease_Description_Source__c":"MONDO:0019450","GARD_Synonym__c":"lch; lissencephaly co-occurrent with congenital cerebellar hypoplasia","Name":"Lissencephaly with cerebellar hypoplasia","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/86823","Source__c":"C4274995; MONDO:0019450; ORPHA:86823","Xref__c":"ORPHA:86823"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715817007","Source__c":"C4274995; MONDO:0019450","Xref__c":"715817007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=905529","Source__c":"C4274995","Xref__c":"MEDGEN:905529"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4274995","Source__c":"C4274995","Xref__c":"C4274995"},{"URL__c":"https://medlineplus.gov/genetics/condition/lissencephaly-with-cerebellar-hypoplasia","Source__c":"GARD:0019068","Xref__c":"https://medlineplus.gov/genetics/condition/lissencephaly-with-cerebellar-hypoplasia"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019450","Source__c":"GARD:0019068","Xref__c":"MONDO:0019450"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities"],"Account":["Epilepsy"]},"synonyms":["lch"," lissencephaly co-occurrent with congenital cerebellar hypoplasia"]}