{"Name":"Syndactyly type 3","DiseaseID__c":"GARD:0005088","id":5088,"encodedName":"syndactyly-type-3","IsDeleted":false,"Disease_Name_Full__c":"Syndactyly type 3","Xref_IDs__c":"715725001; C1861366; C538154; DOID:0111817; MEDGEN:396117; MONDO:0008514; OMIM:186100; ORPHA:93404","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008514","Disease_Description__c":"A rare non-syndromic syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers. In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The middle phalanx of the fifth finger is usually hypoplastic, and the feet are not affected.","GARD_Name__c":"Syndactyly type 3","GARD_Synonym__c":"gja1 non-syndromic syndactyly; non-syndromic syndactyly caused by mutation in gja1; ring and little finger syndactyly; sd3; sdty3; syndactyly of fingers 4 and 5; syndactyly of fingers iv and v; syndactyly, type iii","Curated_Disease_Description_Source__c":"GARD:0005088","Curated_Disease_Description__c":"Syndactyly type 3 (SD3) is a limb abnormality present at birth that is characterized by complete fusion of the 4th and 5th fingers on both hands. In most cases only the soft tissue is fused, but in some cases the bones of the fingers (distal phalanges) are fused. SD3 is the characteristic digital abnormality in this condition. SD3 is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:93404","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008514","ORPHANET_ID__c":"ORPHA:93404","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Sindactilia tipo 3","Spanish_Description_Source__c":"ORPHA:93404","Spanish_Description__c":"Es una sindactilia no sindrómica poco frecuente caracterizada por sindactilia completa y bilateral entre el cuarto y quinto dedos de la mano. En la mayoría de los casos, es una sindactilia de tejidos blandos, pero en ocasiones las falanges distales pueden fusionarse. La falange media del quinto dedo de la mano suele ser hipoplásica y los pies no se ven afectados.","Spanish_Disease_Name__c":"sindactilia tipo 3","Spanish_GARD_Synonym__c":"sd3; sindactilia en los dedos 4 y 5","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":"Syndactyly type 3 (SD3) is a limb abnormality present at birth that is characterized by complete fusion of the 4th and 5th fingers on both hands. In most cases only the soft tissue is fused, but in some cases the bones of the fingers (distal phalanges) are fused. SD3 is the characteristic digital abnormality in this condition. SD3 is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0005088","GARD_Synonym__c":"gja1 non-syndromic syndactyly; non-syndromic syndactyly caused by mutation in gja1; ring and little finger syndactyly; sd3; sdty3; syndactyly of fingers 4 and 5; syndactyly of fingers iv and v; syndactyly, type iii","Name":"Syndactyly type 3","estimateUsa":""}],"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":"Infancy","Provided_By__c":"ORPHA:93404"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:93404"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1861366"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005088","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715725001","Source__c":"C1861366; MONDO:0008514","Xref__c":"715725001"},{"URL__c":"https://www.omim.org/entry/186100","Source__c":"C1861366; MONDO:0008514; ORPHA:93404","Xref__c":"OMIM:186100"},{"URL__c":"https://www.orpha.net/en/disease/detail/93404","Source__c":"C1861366; MONDO:0008514; ORPHA:93404","Xref__c":"ORPHA:93404"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=396117","Source__c":"C1861366","Xref__c":"MEDGEN:396117"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1861366","Source__c":"C1861366","Xref__c":"C1861366"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111817","Source__c":"MONDO:0008514","Xref__c":"DOID:0111817"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538154","Source__c":"MONDO:0008514","Xref__c":"C538154"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008514","Source__c":"GARD:0005088","Xref__c":"MONDO:0008514"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GJA1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gja1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93404","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A toe that appears disproportionately short compared to the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001831","HPO_Synonym__c":"Brachydactyly of the foot; Hypoplasia of the toe; Hypoplastic toes; Short foot phalanges; Short toe; Short toes; Stubby toes","HPO_Name__c":"Short toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93404","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100490","HPO_Synonym__c":"Camptodactyly of hands; Camptodactyly of proximal interphalangeal joint; Contractures of the proximal interphalangeal joints of the fingers; Flexion contractures of proximal interphalangeal joints; Permanent flexion of the finger; Proximal interphalangeal finger joint contractures","HPO_Name__c":"Camptodactyly of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93404","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["gja1 non-syndromic syndactyly"," non-syndromic syndactyly caused by mutation in gja1"," ring and little finger syndactyly"," sd3"," sdty3"," syndactyly of fingers 4 and 5"," syndactyly of fingers iv and v"," syndactyly, type iii"]}