{"Name":"Brachydactyly-long thumb syndrome","DiseaseID__c":"GARD:0000968","id":968,"encodedName":"brachydactyly-long-thumb-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Brachydactyly-long thumb syndrome","Xref_IDs__c":"733454004; C1862169; C566204; MEDGEN:350609; MONDO:0007212; OMIM:112430; ORPHA:2946","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":2,"Description_Source__c":"MONDO:0007212","Disease_Description__c":"A rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. There have been no new reports since 1981.","GARD_Name__c":"Brachydactyly-long thumb syndrome","GARD_Synonym__c":"brachydactyly long thumb type; brachydactyly, long thumb type; long thumb brachydactyly syndrome","Curated_Disease_Description_Source__c":"MONDO:0007212","Curated_Disease_Description__c":"A rare heart-hand syndrome characterized by bisymmetric brachydactyly accompanied by long thumbs and cardiomegaly. Cardiac conduction defects may also be present. Additional clinical features include limited internal and external rotation of the shoulders (that are usually narrow with short clavicles) and limited flexion of the metacarpophalangeal joints. Mild shortness of the limbs, small hands and feet, clinodactyly, pectus excavatum and murmur of pulmonic stenosis have also been reported. There have been no further descriptions in the literature since 1981.","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:2946","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007212","ORPHANET_ID__c":"ORPHA:2946","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de braquidactilia-pulgar largo","Spanish_Description_Source__c":"ORPHA:2946","Spanish_Description__c":"El síndrome braquidactilia-pulgar largo es una forma autosómica dominante muy infrecuente de síndrome corazón-mano (consulte este término), caracterizada por braquidactilia bisimétrica acompañada por pulgares largos, anomalías en las articulaciones (restricción del movimiento del hombro y las articulaciones metacarpofalángicas) y defectos en el sistema de conducción cardíaca. Los rasgos adicionales incluyen manos y pies pequeños, clinodactilia, hombros estrechos con clavículas cortas, <i>pectus excavatum</i> y un leve acortamiento de las extremidades, cardiomegalia y un soplo por estenosis de la válvula pulmonar. Ha sido descrito en cuatro miembros de tres generaciones de una familia, sin que se haya informado de ningún caso más desde 1981.","Spanish_Disease_Name__c":"síndrome de braquidactilia-pulgar largo","Spanish_GARD_Synonym__c":null,"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 heart-hand syndrome characterized by bisymmetric brachydactyly accompanied by long thumbs and cardiomegaly. Cardiac conduction defects may also be present. Additional clinical features include limited internal and external rotation of the shoulders (that are usually narrow with short clavicles) and limited flexion of the metacarpophalangeal joints. Mild shortness of the limbs, small hands and feet, clinodactyly, pectus excavatum and murmur of pulmonic stenosis have also been reported. There have been no further descriptions in the literature since 1981.","Curated_Disease_Description_Source__c":"MONDO:0007212","GARD_Synonym__c":"brachydactyly long thumb type; brachydactyly, long thumb type; long thumb brachydactyly syndrome","Name":"Brachydactyly-long thumb 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":"Cardiology","Tag_Category__c":"Specialist"},{"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":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Clinical Cardiac Electrophysiology","Tag_Category__c":"Specialist","curated_tag_name":"Clinical cardiac electrophysiology"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2946"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2946"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733454004","Source__c":"C1862169; MONDO:0007212","Xref__c":"733454004"},{"URL__c":"https://www.omim.org/entry/112430","Source__c":"C1862169; MONDO:0007212; ORPHA:2946","Xref__c":"OMIM:112430"},{"URL__c":"https://www.orpha.net/en/disease/detail/2946","Source__c":"C1862169; MONDO:0007212; ORPHA:2946","Xref__c":"ORPHA:2946"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566204","Source__c":"MONDO:0007212","Xref__c":"C566204"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1862169","Source__c":"C1862169","Xref__c":"C1862169"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=350609","Source__c":"C1862169","Xref__c":"MEDGEN:350609"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007212","Source__c":"GARD:0000968","Xref__c":"MONDO:0007212"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Orthopedics","Clinical Cardiac Electrophysiology","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["brachydactyly long thumb type"," brachydactyly, long thumb type"," long thumb brachydactyly syndrome"]}