{"Name":"Trigonocephaly-broad thumbs syndrome","DiseaseID__c":"GARD:0002756","id":2756,"encodedName":"trigonocephaly-broad-thumbs-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Trigonocephaly-broad thumbs syndrome","Xref_IDs__c":"719949001; C4304968; MEDGEN:930637; MONDO:0018064; ORPHA:3365","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018064","Disease_Description__c":"Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.","GARD_Name__c":"Trigonocephaly-broad thumbs syndrome","GARD_Synonym__c":"hunter rudd hoffmann syndrome; hunter-rudd-hoffmann syndrome; trigonocephaly with broad thumb syndrome","Curated_Disease_Description_Source__c":"ORPHA:3365","Curated_Disease_Description__c":"Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It is transmitted as an autosomal dominant trait.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:3365","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018064","ORPHANET_ID__c":"ORPHA:3365","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de trigonocefalia-pulgares ensanchados","Spanish_Description_Source__c":"ORPHA:3365","Spanish_Description__c":"Es un síndrome caracterizado por trigonocefalia neonatal y anomalías múltiples incluyendo craneosinostosis, órbitas poco profundas, nariz inusual, desviación de las falanges terminales de los dedos de las manos 1, 2 y 5, y dedos de los pies anchos con duplicación de la falange terminal. Se ha descrito en una madre y su hijo. Se transmite como un rasgo autosómico dominante.","Spanish_Disease_Name__c":"síndrome de trigonocefalia-pulgares ensanchados","Spanish_GARD_Synonym__c":"síndrome de hunter-rudd-hoffmann","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":"Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It is transmitted as an autosomal dominant trait.","Curated_Disease_Description_Source__c":"ORPHA:3365","GARD_Synonym__c":"hunter rudd hoffmann syndrome; hunter-rudd-hoffmann syndrome; trigonocephaly with broad thumb syndrome","Name":"Trigonocephaly-broad thumbs syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3365"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3365"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719949001","Source__c":"C4304968; MONDO:0018064","Xref__c":"719949001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=930637","Source__c":"C4304968","Xref__c":"MEDGEN:930637"},{"URL__c":"https://www.orpha.net/en/disease/detail/3365","Source__c":"C4304968; MONDO:0018064; ORPHA:3365","Xref__c":"ORPHA:3365"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4304968","Source__c":"C4304968","Xref__c":"C4304968"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018064","Source__c":"GARD:0002756","Xref__c":"MONDO:0018064"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["hunter rudd hoffmann syndrome"," hunter-rudd-hoffmann syndrome"," trigonocephaly with broad thumb syndrome"]}