{"Name":"Acropectoral syndrome","DiseaseID__c":"GARD:0008485","id":8485,"encodedName":"acropectoral-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Acropectoral syndrome","Xref_IDs__c":"720412009; C1853812; C535664; MEDGEN:342975; MONDO:0011621; OMIM:605967; ORPHA:85203","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011621","Disease_Description__c":"A rare syndrome characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations.","GARD_Name__c":"Acropectoral syndrome","GARD_Synonym__c":"acro-pectoral syndrome; acrp syndrome; acrps; dundar acropectoral syndrome; syndactyly with preaxial polydactyly and sternal deformity syndrome; syndactyly-preaxial polydactyly-sternal deformity syndrome","Curated_Disease_Description_Source__c":"MONDO:0011621","Curated_Disease_Description__c":"A rare syndrome characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations.","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:85203","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011621","ORPHANET_ID__c":"ORPHA:85203","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome acro-pectoral","Spanish_Description_Source__c":"ORPHA:85203","Spanish_Description__c":"Un síndrome poco frecuente caracterizado por una combinación de anomalías de las extremidades distales (sindactilia de todos los dedos de manos y pies, polidactilia preaxial en los pies y/o manos) y malformaciones en la región esternal superior.","Spanish_Disease_Name__c":"síndrome acro-pectoral","Spanish_GARD_Synonym__c":"síndrome acrp; síndrome de sindactilia-polidactilia preaxial-deformidad del esternón","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 syndrome characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations.","Curated_Disease_Description_Source__c":"MONDO:0011621","GARD_Synonym__c":"acro-pectoral syndrome; acrp syndrome; acrps; dundar acropectoral syndrome; syndactyly with preaxial polydactyly and sternal deformity syndrome; syndactyly-preaxial polydactyly-sternal deformity syndrome","Name":"Acropectoral 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":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:85203"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:85203"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/605967","Source__c":"C1853812; MONDO:0011621; ORPHA:85203","Xref__c":"OMIM:605967"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=342975","Source__c":"C1853812","Xref__c":"MEDGEN:342975"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720412009","Source__c":"C1853812; MONDO:0011621","Xref__c":"720412009"},{"URL__c":"https://www.orpha.net/en/disease/detail/85203","Source__c":"C1853812; MONDO:0011621; ORPHA:85203","Xref__c":"ORPHA:85203"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535664","Source__c":"MONDO:0011621","Xref__c":"C535664"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1853812","Source__c":"C1853812","Xref__c":"C1853812"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011621","Source__c":"GARD:0008485","Xref__c":"MONDO:0011621"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85203","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006101","HPO_Synonym__c":"Partial syndactyly","HPO_Name__c":"Finger syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85203","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000765","HPO_Synonym__c":"Abnormality of the chest; Abnormality of the thorax; Structural abnormality of the chest wall","HPO_Name__c":"Abnormal thorax morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85203","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001177","HPO_Synonym__c":"Extra thumb; Polydactyly affecting the thumb; Preaxial polydactyly of hands; Supernumerary thumb; thumb polydactyly","HPO_Name__c":"Preaxial hand polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["acro-pectoral syndrome"," acrp syndrome"," acrps"," dundar acropectoral syndrome"," syndactyly with preaxial polydactyly and sternal deformity syndrome"," syndactyly-preaxial polydactyly-sternal deformity syndrome"]}