{"Name":"Prata-Liberal-Goncalves syndrome","DiseaseID__c":"GARD:0000491","id":491,"encodedName":"prata-liberal-goncalves-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Prata-Liberal-Goncalves syndrome","Xref_IDs__c":"C2931761; MEDGEN:419156; MONDO:0017568; ORPHA:2956","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017568","Disease_Description__c":"A rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.","GARD_Name__c":"Prata-Liberal-Goncalves syndrome","GARD_Synonym__c":"acrodysplasia scoliosis; brachydactyly-scoliosis-carpal fusion syndrome; brachydactyly, scoliosis, carpal fusion syndrome; brachydactyly, scoliosis, spina bifida occulta, and carpal synostosis; prata liberal goncalves syndrome","Curated_Disease_Description_Source__c":"GARD:0000491","Curated_Disease_Description__c":"Acrodysplasia scoliosis is a rare condition characterized by scoliosis, brachydactyly (unusually short fingers and toes), spina bifida occulta, and carpal synostosis (fused bones of the wrist). The underlying genetic cause of the condition is unknown, but it appears to be inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2956","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017568","ORPHANET_ID__c":"ORPHA:2956","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Acrodisplasia-escoliosis","Spanish_Description_Source__c":"ORPHA:2956","Spanish_Description__c":"Es un trastorno genético poco frecuente, caracterizado por braquidactilia y otras anomalías en los dedos de manos/ pies (metacarpianos cortos y/o anchos, metatarsianos anómalos o ausentes, halluces anchos), sinostosis de los huesos del carpo, fusión de vértebras cervicales, escoliosis y espina bífida oculta. No se han descrito más casos en la literatura desde 1984.","Spanish_Disease_Name__c":"acrodisplasia-escoliosis","Spanish_GARD_Synonym__c":"síndrome de braquidactilia-escoliosis-fusión del carpo; síndrome de prata-liberal-goncalves","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":"Acrodysplasia scoliosis is a rare condition characterized by scoliosis, brachydactyly (unusually short fingers and toes), spina bifida occulta, and carpal synostosis (fused bones of the wrist). The underlying genetic cause of the condition is unknown, but it appears to be inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0000491","GARD_Synonym__c":"acrodysplasia scoliosis; brachydactyly-scoliosis-carpal fusion syndrome; brachydactyly, scoliosis, carpal fusion syndrome; brachydactyly, scoliosis, spina bifida occulta, and carpal synostosis; prata liberal goncalves syndrome","Name":"Prata-Liberal-Goncalves syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Scoliosis Foundation","Website__c":"https://www.scoliosis.org/"},{"Account_Name__c":"Scoliosis Research Society","Website__c":"https://www.srs.org/"}],"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:2956"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931761","Source__c":"C2931761","Xref__c":"C2931761"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419156","Source__c":"C2931761","Xref__c":"MEDGEN:419156"},{"URL__c":"https://www.orpha.net/en/disease/detail/2956","Source__c":"C2931761; MONDO:0017568; ORPHA:2956","Xref__c":"ORPHA:2956"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017568","Source__c":"GARD:0000491","Xref__c":"MONDO:0017568"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=773773006","Source__c":"C2931761","Xref__c":"773773006"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2956","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:2956","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality related to a defect of vertebral separation during development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003422","HPO_Synonym__c":"Abnormal spinal segmentation","HPO_Name__c":"Vertebral segmentation defect","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2956","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003298","HPO_Synonym__c":"Hidden spina bifida","HPO_Name__c":"Spina bifida occulta","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2956","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","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":["acrodysplasia scoliosis"," brachydactyly-scoliosis-carpal fusion syndrome"," brachydactyly, scoliosis, carpal fusion syndrome"," brachydactyly, scoliosis, spina bifida occulta, and carpal synostosis"," prata liberal goncalves syndrome"]}