{"Name":"Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome","DiseaseID__c":"GARD:0002622","id":2622,"encodedName":"fibular-aplasia-tibial-campomelia-and-oligosyndactyly-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome","Xref_IDs__c":"C1855499; C565436; MEDGEN:340887; MONDO:0009526","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:2492","Disease_Description__c":"A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated.","GARD_Name__c":"Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome","GARD_Synonym__c":"fatco syndrome; fibular aplasia-tibial campomelia-oligosyndactyly syndrome; fibular aplasia, tibial campomelia, oligo-syndactyly syndrome; terminal transverse defects of the limbs associated with congenital heart malformations","Curated_Disease_Description_Source__c":"ORPHA:2492","Curated_Disease_Description__c":"This rare genetic birth difference affects the bones and toes of the limbs. The main features are missing or underdeveloped fibula bones in one or both legs, and curved tibia bones (tibial campomelia). People also have fewer toes than usual (oligosyndactyly) on the outer side of the lower limbs. In some individuals, the hands or arms can also have fewer fingers, and there may be a split or opening in the upper lip and/or the roof of the mouth (cleft lip and palate).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:2492","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009526","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":"This rare genetic birth difference affects the bones and toes of the limbs. The main features are missing or underdeveloped fibula bones in one or both legs, and curved tibia bones (tibial campomelia). People also have fewer toes than usual (oligosyndactyly) on the outer side of the lower limbs. In some individuals, the hands or arms can also have fewer fingers, and there may be a split or opening in the upper lip and/or the roof of the mouth (cleft lip and palate).","Curated_Disease_Description_Source__c":"ORPHA:2492","GARD_Synonym__c":"fatco syndrome; fibular aplasia-tibial campomelia-oligosyndactyly syndrome; fibular aplasia, tibial campomelia, oligo-syndactyly syndrome; terminal transverse defects of the limbs associated with congenital heart malformations","Name":"Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1855499","Source__c":"C1855499","Xref__c":"C1855499"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=340887","Source__c":"C1855499","Xref__c":"MEDGEN:340887"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565436","Source__c":"MONDO:0009526","Xref__c":"C565436"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009526","Source__c":"GARD:0002622","Xref__c":"MONDO:0009526"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783156008","Source__c":"C1855499","Xref__c":"783156008"}],"tags":{},"synonyms":["fatco syndrome"," fibular aplasia-tibial campomelia-oligosyndactyly syndrome"," fibular aplasia, tibial campomelia, oligo-syndactyly syndrome"," terminal transverse defects of the limbs associated with congenital heart malformations"]}