{"Name":"Triphalangeal thumbs-brachyectrodactyly syndrome","DiseaseID__c":"GARD:0005290","id":5290,"encodedName":"triphalangeal-thumbs-brachyectrodactyly-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Triphalangeal thumbs-brachyectrodactyly syndrome","Xref_IDs__c":"C1860804; C536564; MEDGEN:348710; MONDO:0008607; OMIM:190680; ORPHA:2947","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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008607","Disease_Description__c":"A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed.","GARD_Name__c":"Triphalangeal thumbs-brachyectrodactyly syndrome","GARD_Synonym__c":"carnevale hernandez del castillo syndrome; carnevale-hernández-del castillo syndrome; triphalangeal thumb and brachyectrodactyly syndrome; triphalangeal thumb with brachyectrodactyly syndrome; triphalangeal thumbs with brachyectrodactyly","Curated_Disease_Description_Source__c":"MONDO:0008607","Curated_Disease_Description__c":"A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2947","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008607","ORPHANET_ID__c":"ORPHA:2947","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome del pulgar trifalángico-braquiectrodactilia","Spanish_Description_Source__c":"ORPHA:2947","Spanish_Description__c":"Es un síndrome de origen genético poco frecuente con duplicación de extremidades, polidactilia, sindactilia y/o hiperfalangia caracterizado por anomalías de duplicación tales como pulgares trifalángicos, duplicación de las falanges de otros dedos de las manos y polidactilia, asociado a combinaciones muy variables de ectrodactilia, braquidactilia y sindactilia de manos y/o pies. También se observa grave displasia o ausencia ungueal.","Spanish_Disease_Name__c":"síndrome del pulgar trifalángico-braquiectrodactilia","Spanish_GARD_Synonym__c":"síndrome de carnevale-hernández-del castillo-torres","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 genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed.","Curated_Disease_Description_Source__c":"MONDO:0008607","GARD_Synonym__c":"carnevale hernandez del castillo syndrome; carnevale-hernández-del castillo syndrome; triphalangeal thumb and brachyectrodactyly syndrome; triphalangeal thumb with brachyectrodactyly syndrome; triphalangeal thumbs with brachyectrodactyly","Name":"Triphalangeal thumbs-brachyectrodactyly 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:2947"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1860804","Source__c":"C1860804","Xref__c":"C1860804"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=348710","Source__c":"C1860804","Xref__c":"MEDGEN:348710"},{"URL__c":"https://www.orpha.net/en/disease/detail/2947","Source__c":"C1860804; MONDO:0008607; ORPHA:2947","Xref__c":"ORPHA:2947"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536564","Source__c":"MONDO:0008607","Xref__c":"C536564"},{"URL__c":"https://www.omim.org/entry/190680","Source__c":"C1860804; MONDO:0008607; ORPHA:2947","Xref__c":"OMIM:190680"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719951002","Source__c":"C1860804","Xref__c":"719951002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008607","Source__c":"GARD:0005290","Xref__c":"MONDO:0008607"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:190680","Feature__r":{"HPO_Description__c":"A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001199","HPO_Synonym__c":"Accessory phalanx of the thumb; Digitalized thumb; Finger-like thumb; Triphalangeal thumbs; Triphalangy of thumb","HPO_Name__c":"Triphalangeal thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:190680","Feature__r":{"HPO_Description__c":"Underdevelopment (hypoplasia) of the third toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005643","HPO_Synonym__c":"Brachydactyly of third toes; Short 3rd toe; Short third toe","HPO_Name__c":"Short 3rd toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:190680","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":"OMIM:190680","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001839","HPO_Synonym__c":"Foot ectrodactyly; Lobster-claw foot deformity; Split foot; Split-foot","HPO_Name__c":"Split foot","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:190680","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001171","HPO_Synonym__c":"Ectrodactyly of the hand; Hand ectrodactyly; Split hand; Split-hand","HPO_Name__c":"Split hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:190680","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","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":["carnevale hernandez del castillo syndrome"," carnevale-hernández-del castillo syndrome"," triphalangeal thumb and brachyectrodactyly syndrome"," triphalangeal thumb with brachyectrodactyly syndrome"," triphalangeal thumbs with brachyectrodactyly"]}