{"Name":"Summitt syndrome","DiseaseID__c":"GARD:0000127","id":127,"encodedName":"summitt-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Summitt syndrome","Xref_IDs__c":"733606001; C1802405; C538142; MEDGEN:369198; MONDO:0010090; OMIM:272350","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":2,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0010090","Disease_Description__c":"Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome.","GARD_Name__c":"Summitt syndrome","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:3210","Curated_Disease_Description__c":"A rare syndromic trigonocephaly characterized by marked malformations of the head and face (essentially acrocephaly), broad depressed nasal bridge, narrow maxillae, abnormalities of the hands and feet (polydactyly, brachydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), obesity and congenital heart disease. This disease is considered a variant of Carpenter syndrome without intellectual disabaility.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:3210","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010090","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":"A rare syndromic trigonocephaly characterized by marked malformations of the head and face (essentially acrocephaly), broad depressed nasal bridge, narrow maxillae, abnormalities of the hands and feet (polydactyly, brachydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), obesity and congenital heart disease. This disease is considered a variant of Carpenter syndrome without intellectual disabaility.","Curated_Disease_Description_Source__c":"ORPHA:3210","Name":"Summitt syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=369198","Source__c":"C1802405","Xref__c":"MEDGEN:369198"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1802405","Source__c":"C1802405","Xref__c":"C1802405"},{"URL__c":"https://www.omim.org/entry/272350","Source__c":"C1802405; MONDO:0010090","Xref__c":"OMIM:272350"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733606001","Source__c":"MONDO:0010090","Xref__c":"733606001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538142","Source__c":"MONDO:0010090","Xref__c":"C538142"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010090","Source__c":"GARD:0000127","Xref__c":"MONDO:0010090"}],"tags":{},"synonyms":[""]}