{"Name":"Spondylometaphyseal dysplasia, Czarny-Ratajczak type","DiseaseID__c":"GARD:0021587","id":21587,"encodedName":"spondylometaphyseal-dysplasia-czarny-ratajczak-type","IsDeleted":false,"Disease_Name_Full__c":"Spondylometaphyseal dysplasia, Czarny-Ratajczak type","Xref_IDs__c":"CN277267; MEDGEN:960295; MONDO:0018255","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":0,"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":0,"Disease_Characteristics_Score__c":0,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:370019","Disease_Description__c":"Spondylometaphyseal dysplasia, Czarny-Ratajczak type is a rare primary bone dysplasia disorder characterized by short stature with severe shortening of limbs, genu vara deformity and enlarged joints with movement limitation particularly affecting the hip joints. Radiological findings show coxa vara, generalized metaphyseal irregularities of the tubular bones (including cupping, fraying and splaying) which is more severe in the femur and forearm bones than the metacarpals and phalanges, and vertebral abnormalities including ovoid vertebral bodies with anterior rectangular protrusions, and severe platyspondyly.","GARD_Name__c":"Spondylometaphyseal dysplasia, Czarny-Ratajczak type","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:370019","Curated_Disease_Description__c":"This rare bone growth disease affects the spine and the ends of the long bones in the arms and legs. People with this disease are shorter than average and have severely shortened limbs, which can make movement more difficult. The joints, especially the hip joints, are often enlarged and may not move through their full range, leading to limits in walking or other activities. X-rays show several typical changes: the hip joint angle is abnormal (coxa vara), and the ends of the long bones have wide, irregular shapes that are most obvious in the thigh and forearm bones compared with the bones of the hands and feet. The vertebrae in the spine may be ovoid in shape and have front edges that stick out, along with severe flattening of the vertebral bodies (platyspondyly).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:370019","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018255","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"This rare bone growth disease affects the spine and the ends of the long bones in the arms and legs. People with this disease are shorter than average and have severely shortened limbs, which can make movement more difficult. The joints, especially the hip joints, are often enlarged and may not move through their full range, leading to limits in walking or other activities. X-rays show several typical changes: the hip joint angle is abnormal (coxa vara), and the ends of the long bones have wide, irregular shapes that are most obvious in the thigh and forearm bones compared with the bones of the hands and feet. The vertebrae in the spine may be ovoid in shape and have front edges that stick out, along with severe flattening of the vertebral bodies (platyspondyly).","Curated_Disease_Description_Source__c":"ORPHA:370019","Name":"Spondylometaphyseal dysplasia, Czarny-Ratajczak type","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=960295","Source__c":"CN277267","Xref__c":"MEDGEN:960295"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN277267","Source__c":"CN277267","Xref__c":"CN277267"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018255","Source__c":"GARD:0021587","Xref__c":"MONDO:0018255"}],"tags":{},"synonyms":[""]}