{"Name":"Macrocephaly-short stature-paraplegia syndrome","DiseaseID__c":"GARD:0000172","id":172,"encodedName":"macrocephaly-short-stature-paraplegia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Macrocephaly-short stature-paraplegia syndrome","Xref_IDs__c":"722033000; C2931595; C537718; MEDGEN:419845; MONDO:0016571; ORPHA:2427","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016571","Disease_Description__c":"A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993.","GARD_Name__c":"Macrocephaly-short stature-paraplegia syndrome","GARD_Synonym__c":"macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations; macrocephaly, mental retardation, short stature, spastic paraplegia and cns malformations; macrocephaly, short stature, paraplegia syndrome; volcke soekarman syndrome; volcke-soekarman syndrome","Curated_Disease_Description_Source__c":"ORPHA:2427","Curated_Disease_Description__c":"A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:2427","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016571","ORPHANET_ID__c":"ORPHA:2427","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de macrocefalia-talla baja-paraplejía","Spanish_Description_Source__c":"ORPHA:2427","Spanish_Description__c":"Es una discapacidad intelectual sindrómica poco frecuente caracterizada por macrocefalia, talla baja, discapacidad intelectual, grado variable de paraparesia espástica, malformaciones del sistema nervioso central (hidrocefalia, malformación de Dandy-Walker) y rasgos dismórficos, tales como frente alta y ancha, hipoplasia mediofacial y manos y pies pequeños y anchos. No ha habido más casos descritos en la literatura desde 1993.","Spanish_Disease_Name__c":"síndrome de macrocefalia-talla baja-paraplejía","Spanish_GARD_Synonym__c":"macrocefalia-talla baja-paraplejía; síndrome de volcke-soekarman","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":"A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet.","Curated_Disease_Description_Source__c":"ORPHA:2427","GARD_Synonym__c":"macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations; macrocephaly, mental retardation, short stature, spastic paraplegia and cns malformations; macrocephaly, short stature, paraplegia syndrome; volcke soekarman syndrome; volcke-soekarman syndrome","Name":"Macrocephaly-short stature-paraplegia syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Dandy-Walker Alliance, Inc.","Website__c":"https://dandy-walker.org/"}],"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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2427"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419845","Source__c":"C2931595","Xref__c":"MEDGEN:419845"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537718","Source__c":"MONDO:0016571","Xref__c":"C537718"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722033000","Source__c":"C2931595; MONDO:0016571","Xref__c":"722033000"},{"URL__c":"https://www.orpha.net/en/disease/detail/2427","Source__c":"C2931595; MONDO:0016571; ORPHA:2427","Xref__c":"ORPHA:2427"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931595","Source__c":"C2931595","Xref__c":"C2931595"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016571","Source__c":"GARD:0000172","Xref__c":"MONDO:0016571"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities"]},"synonyms":["macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations"," macrocephaly, mental retardation, short stature, spastic paraplegia and cns malformations"," macrocephaly, short stature, paraplegia syndrome"," volcke soekarman syndrome"," volcke-soekarman syndrome"]}