{"Name":"Brachydactyly-syndactyly syndrome","DiseaseID__c":"GARD:0016821","id":16821,"encodedName":"brachydactyly-syndactyly-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Brachydactyly-syndactyly syndrome","Xref_IDs__c":"C1853137; C565193; DOID:0050689; MEDGEN:377836; MONDO:0012544; OMIM:610713; ORPHA:93409","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:0012544","Disease_Description__c":"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.","GARD_Name__c":"Brachydactyly-syndactyly syndrome","GARD_Synonym__c":"bdsd; brachydactyly-syndactyly, zhao type","Curated_Disease_Description_Source__c":"ORPHA:93409","Curated_Disease_Description__c":"Brachydactyly-syndactyly, Zhao type associates a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.","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:93409","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012544","ORPHANET_ID__c":"ORPHA:93409","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Braquidactilia-sindactilia, tipo zhao","Spanish_Description_Source__c":"ORPHA:93409","Spanish_Description__c":"Es un síndrome que asocia braquidactilia tipo A4 (acortamiento de la falange media de los dedos II y V de la mano y ausencia de la falange media de los dedos II y V del pie) y sindactilia de los dedos II y III del pie. Son comunes las anomalías de metacarpianos y metatarsianos.","Spanish_Disease_Name__c":"braquidactilia-sindactilia, tipo zhao","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":"Brachydactyly-syndactyly, Zhao type associates a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.","Curated_Disease_Description_Source__c":"ORPHA:93409","GARD_Synonym__c":"bdsd; brachydactyly-syndactyly, zhao type","Name":"Brachydactyly-syndactyly 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":"Infancy","Provided_By__c":"ORPHA:93409"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:93409"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050689","Source__c":"MONDO:0012544","Xref__c":"DOID:0050689"},{"URL__c":"https://www.orpha.net/en/disease/detail/93409","Source__c":"C1853137; MONDO:0012544","Xref__c":"ORPHA:93409"},{"URL__c":"https://www.omim.org/entry/610713","Source__c":"C1853137; MONDO:0012544; ORPHA:93409","Xref__c":"OMIM:610713"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1853137","Source__c":"C1853137","Xref__c":"C1853137"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=377836","Source__c":"C1853137","Xref__c":"MEDGEN:377836"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565193","Source__c":"MONDO:0012544","Xref__c":"C565193"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012544","Source__c":"GARD:0016821","Xref__c":"MONDO:0012544"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HOXD13","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93409","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Short fifth metacarpal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010047","HPO_Synonym__c":"Fifth metacarpal hypoplasia; Hypoplastic 5th metacarpal; Short fifth metacarpal; Short fifth metacarpals; Shortened 5th long bone of hand","HPO_Name__c":"Short 5th metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93409","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009577","HPO_Synonym__c":"Brachymesophalangy II (finger); Hypoplastic middle index finger phalanx; Hypoplastic/small middle phalanx of the 2nd finger; Short middle bone of index finger","HPO_Name__c":"Short middle phalanx of the 2nd finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93409","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypoplastic/small middle phalanx of the fifth finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004220","HPO_Synonym__c":"5th finger middle phalangeal hypoplasia; Brachymesophalangism V; Brachymesophalangy V (finger); Fifth finger mid-phalanx hypoplasia; Hypoplastic fifth finger middle phalanx; Hypoplastic middle phalanx of the 5th finger; Hypoplastic/small middle phalanx of the 5th finger; Hypoplastic/small middle phalanx of the little finger; Short middle bone of the little finger; Short middle bone of the pinkie finger; Short middle bone of the pinky finger; Short middle phalanx of the little finger; Type A3 brachydactyly","HPO_Name__c":"Short middle phalanx of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93409","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Short (hypoplastic) fifth metatarsal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004704","HPO_Synonym__c":"Hypoplasia of the fifth metatarsal bone; Short 5th long bone of foot","HPO_Name__c":"Short fifth metatarsal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93409","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the toes, 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 toes in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001770","HPO_Synonym__c":"Foot syndactyly; Fused toes; Syndactyly of feet; Syndactyly of toes; Webbed toes","HPO_Name__c":"Toe syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93409","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lateral deviation of the great toe (i.e., in the direction of the little toe).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001822","HPO_Synonym__c":"Bunion; Lateral deviation of great toe; Lateral deviation of halluces","HPO_Name__c":"Hallux valgus","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":["bdsd"," brachydactyly-syndactyly, zhao type"]}