{"Name":"Brachydactyly type A7","DiseaseID__c":"GARD:0000984","id":984,"encodedName":"brachydactyly-type-a7","IsDeleted":false,"Disease_Name_Full__c":"Brachydactyly type A7","Xref_IDs__c":"720571006; C4303991; MEDGEN:929660; MONDO:0019679; ORPHA:93397","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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019679","Disease_Description__c":"A rare dysostosis with brachydactyly characterized by variable combinations of features of brachydactyly types A2 (such as delta-shaped middle phalanx of the second finger or toe) and D (short, broad distal phalanx of the thumb) and other types of brachydactyly (symphalangism), as well as unique features (dislocatable thumbs, lateral deviation of second toes with elevation of first toes). There have been no further descriptions in the literature since 1989.","GARD_Name__c":"Brachydactyly type A7","GARD_Synonym__c":"brachydactyly smorgasbord type; brachydactyly, smorgasbord type","Curated_Disease_Description_Source__c":"MONDO:0019679","Curated_Disease_Description__c":"A rare dysostosis with brachydactyly characterized by variable combinations of features of brachydactyly types A2 (such as delta-shaped middle phalanx of the second finger or toe) and D (short, broad distal phalanx of the thumb) and other types of brachydactyly (symphalangism), as well as unique features (dislocatable thumbs, lateral deviation of second toes with elevation of first toes). There have been no further descriptions in the literature since 1989.","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:93397","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019679","ORPHANET_ID__c":"ORPHA:93397","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Braquidactilia tipo a7","Spanish_Description_Source__c":"ORPHA:93397","Spanish_Description__c":"Es una disostosis poco frecuente con braquidactilia caracterizada por una combinación variable de hallazgos asociados a la braquidactilia tipo A2 (como falange media del primer o del segundo dedo del pie en delta), tipo D (falange distal del pulgar corta y ancha) y a otros tipos de braquidactilia (sinfalangismo), así como por otros hallazgos característicos (luxación de pulgares, desviación lateral del segundo dedo del pie con elevación del primero). No ha habido más casos descritos en la literatura desde 1989.","Spanish_Disease_Name__c":"braquidactilia tipo a7","Spanish_GARD_Synonym__c":"braquidactilia tipo smorgasbord","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 dysostosis with brachydactyly characterized by variable combinations of features of brachydactyly types A2 (such as delta-shaped middle phalanx of the second finger or toe) and D (short, broad distal phalanx of the thumb) and other types of brachydactyly (symphalangism), as well as unique features (dislocatable thumbs, lateral deviation of second toes with elevation of first toes). There have been no further descriptions in the literature since 1989.","Curated_Disease_Description_Source__c":"MONDO:0019679","GARD_Synonym__c":"brachydactyly smorgasbord type; brachydactyly, smorgasbord type","Name":"Brachydactyly type A7","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:93397"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:93397"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=929660","Source__c":"C4303991","Xref__c":"MEDGEN:929660"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720571006","Source__c":"C4303991; MONDO:0019679","Xref__c":"720571006"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4303991","Source__c":"C4303991","Xref__c":"C4303991"},{"URL__c":"https://www.orpha.net/en/disease/detail/93397","Source__c":"C4303991; MONDO:0019679; ORPHA:93397","Xref__c":"ORPHA:93397"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019679","Source__c":"GARD:0000984","Xref__c":"MONDO:0019679"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93397","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased thumb width without increased dorso-ventral dimension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011304","HPO_Synonym__c":"Broad phalanges of the thumb; Broad thumb; Broad thumbs; Wide/broad thumb; Wide/broad thumb phalanges","HPO_Name__c":"Broad thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93397","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009523","HPO_Synonym__c":"Triangular end part of the middle bone of the index finger","HPO_Name__c":"Triangular epiphysis of the middle phalanx of the 2nd finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93397","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"}},{"Provided_By__c":"ORPHA:93397","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010348","HPO_Synonym__c":"Broad bones of the 2nd toe","HPO_Name__c":"Broad phalanges of the 2nd toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93397","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Medial deviation of the second toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008096","HPO_Name__c":"Medially deviated second toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93397","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Syndactyly with fusion of toes two and three.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004691","HPO_Synonym__c":"2-3 syndactyly of feet; 2-3 toe soft tissue syndactyly; 2-3 toes syndactyly; partial or complete syndactyly 2nd-3rd toes; Syndactyly of second and third toes; Toe syndactyly, 2-3; Webbed 2nd and 3rd toes","HPO_Name__c":"2-3 toe syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93397","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Displacement of the 2nd (index) finger towards the ulnar side.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009464","HPO_Synonym__c":"Medially deviated index finger; Second finger ulnar deviation; Ulnar angulation of the index finger; Ulnar deviation of index fingers","HPO_Name__c":"Ulnar deviation of the 2nd finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93397","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal union between bones or parts of bones of the fingers. The synonymous term \\\"symphalangism of the hand\\\" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as \\\"Symphalangism\\\" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as \\\"bony\\\" Syndactyly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009700","HPO_Synonym__c":"Fused finger bones; Symphalangism of the hand; Synostosis involving bones of the fingers","HPO_Name__c":"Finger symphalangism","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93397","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004209","HPO_Synonym__c":"Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger","HPO_Name__c":"Clinodactyly of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93397","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypoplasia of the second finger, also known as the index finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009536","HPO_Synonym__c":"Hypoplastic index finger phalanges; Hypoplastic/small index finger; Short index finger; Short index finger phalanges; Short index fingers","HPO_Name__c":"Short 2nd finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93397","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the middle phalanx of the 5th toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100394","HPO_Synonym__c":"Hypoplastic/small middle phalanx of the 5th toe; Short middle bone of little toe; Short middle bone of pinkie toe; Short middle bone of pinky toe; Short middle phalanx of the fifth toe","HPO_Name__c":"Short middle phalanx of the 5th toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93397","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased width of the distal phalanx of thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009642","HPO_Synonym__c":"Broad outermost bone of the thumb; Broad terminal thumb phalanx; Wide distal phalanx of thumb; Wide outermost bone of thumb","HPO_Name__c":"Broad distal phalanx of the thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93397","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009843","HPO_Synonym__c":"Absent/hypoplastic middle phalanges; Absent/small middle finger bone of the hand; Absent/underdeveloped middle finger bone of the hand; Aplasia/hypoplasia of middle phalanges; Aplastic/hypoplastic middle phalanges; Hypoplastic/aplastic middle phalanx; Short to absent middle phalanges; Short/absent middle phalanges","HPO_Name__c":"Aplasia/Hypoplasia of the middle phalanges of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93397","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A widely spaced gap between the first toe (the great toe) and the second toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001852","HPO_Synonym__c":"Gap between 1st and 2nd toes; Gap between first and second toe; Increased space between first and second toes; Sandal gap between first and second toes; Space between great toe and second toe; Wide space between 1st, 2nd toes; Wide space between first and second toes; Wide-spaced big toe; Widely spaced 1st-2nd toes; Widely spaced first and second toes; Widened gap 1st-2nd toes; Widened gap first and second toe","HPO_Name__c":"Sandal gap","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93397","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Displacement of the 2nd finger towards the radial side.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009467","HPO_Synonym__c":"Radially deviated index finger","HPO_Name__c":"Radial deviation of the 2nd finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93397","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment (hypoplasia) of the big toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010109","HPO_Synonym__c":"Hypoplastic big toes; Hypoplastic hallux; Short big toe; Short halluces; Small hallux","HPO_Name__c":"Short hallux","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93397","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of the middle phalanx of the index (2nd) finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009576","HPO_Synonym__c":"Absent middle bone of index finger; Absent middle phalanx of index finger; Aplasia of the middle phalanx of the 2nd finger","HPO_Name__c":"Absent middle phalanx of 2nd finger","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":["brachydactyly smorgasbord type"," brachydactyly, smorgasbord type"]}