{"Name":"Spondylocamptodactyly syndrome","DiseaseID__c":"GARD:0004972","id":4972,"encodedName":"spondylocamptodactyly-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Spondylocamptodactyly syndrome","Xref_IDs__c":"716231009; C1838781; C535779; MEDGEN:325510; MONDO:0010801; OMIM:600000; ORPHA:3180","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":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010801","Disease_Description__c":"A rare spondylodysplastic syndrome characterized by camptodactyly, cervical platyspondyly, and variable degrees of thoracic scoliosis. There have been no further descriptions in the literature since 1995.","GARD_Name__c":"Spondylocamptodactyly syndrome","GARD_Synonym__c":"camptodactyly with cervical platyspondyly; spondylocamptodactyly","Curated_Disease_Description_Source__c":"MONDO:0010801","Curated_Disease_Description__c":"A rare spondylodysplastic syndrome characterized by camptodactyly, cervical platyspondyly, and variable degrees of thoracic scoliosis. There have been no further descriptions in the literature since 1995.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:3180","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010801","ORPHANET_ID__c":"ORPHA:3180","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome espondilo-camptodactilia","Spanish_Description_Source__c":"ORPHA:3180","Spanish_Description__c":"Es un síndrome espondilodisplásico poco frecuente caracterizado por camptodactilia, platispondilia cervical y grados variables de escoliosis torácica. No se han descrito nuevos casos en la literatura desde 1995.","Spanish_Disease_Name__c":"síndrome espondilo-camptodactilia","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93419","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 spondylodysplastic syndrome characterized by camptodactyly, cervical platyspondyly, and variable degrees of thoracic scoliosis. There have been no further descriptions in the literature since 1995.","Curated_Disease_Description_Source__c":"MONDO:0010801","GARD_Synonym__c":"camptodactyly with cervical platyspondyly; spondylocamptodactyly","Name":"Spondylocamptodactyly 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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3180"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535779","Source__c":"MONDO:0010801","Xref__c":"C535779"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716231009","Source__c":"MONDO:0010801","Xref__c":"716231009"},{"URL__c":"https://www.orpha.net/en/disease/detail/3180","Source__c":"C1838781; MONDO:0010801","Xref__c":"ORPHA:3180"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=325510","Source__c":"C1838781","Xref__c":"MEDGEN:325510"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1838781","Source__c":"C1838781","Xref__c":"C1838781"},{"URL__c":"https://www.omim.org/entry/600000","Source__c":"C1838781; MONDO:0010801; ORPHA:3180","Xref__c":"OMIM:600000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010801","Source__c":"GARD:0004972","Xref__c":"MONDO:0010801"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3180","HPO_Frequency__c":"Very frequent (80-99%)","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:3180","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A flattened vertebral body shape with reduced distance between the vertebral endplates.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000926","HPO_Synonym__c":"Flat vertebral bodies; Flattened vertebrae; Flattened vertebral bodies","HPO_Name__c":"Platyspondyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3180","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"]},"synonyms":["camptodactyly with cervical platyspondyly"," spondylocamptodactyly"]}