{"Name":"Cerebral gigantism-jaw cysts syndrome","DiseaseID__c":"GARD:0001206","id":1206,"encodedName":"cerebral-gigantism-jaw-cysts-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cerebral gigantism-jaw cysts syndrome","Xref_IDs__c":"725418006; CN278897; MEDGEN:962635; MONDO:0016161","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0016161","Disease_Description__c":"Cerebral gigantism-jaw cysts syndrome is characterized by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome.","GARD_Name__c":"Cerebral gigantism-jaw cysts syndrome","GARD_Synonym__c":"cramer-niederdellmann syndrome","Curated_Disease_Description_Source__c":"MEDGEN:C0004779","Curated_Disease_Description__c":"Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs) usually from the third decade onward. Approximately 60% of individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in more than 90% of affected individuals by age 20 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (<2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016161","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs) usually from the third decade onward. Approximately 60% of individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in more than 90% of affected individuals by age 20 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (<2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average.","Curated_Disease_Description_Source__c":"MEDGEN:C0004779","GARD_Synonym__c":"cramer-niederdellmann syndrome","Name":"Cerebral gigantism-jaw cysts syndrome","estimateUsa":""}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0004779"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1151","Source__c":"Gene Review","Xref__c":"NBK1151"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725418006","Source__c":"MONDO:0016161","Xref__c":"725418006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016161","Source__c":"GARD:0001206","Xref__c":"MONDO:0016161"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN278897","Source__c":"CN278897","Xref__c":"CN278897"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=962635","Source__c":"CN278897","Xref__c":"MEDGEN:962635"}],"tags":{},"synonyms":["cramer-niederdellmann syndrome"]}