{"Name":"Spondyloepimetaphyseal dysplasia, Isidor type","DiseaseID__c":"GARD:0021586","id":21586,"encodedName":"spondyloepimetaphyseal-dysplasia-isidor-type","IsDeleted":false,"Disease_Name_Full__c":"Spondyloepimetaphyseal dysplasia, Isidor type","Xref_IDs__c":"C5190629; MEDGEN:1676518; MONDO:0018254; ORPHA:370015","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":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:370015","Disease_Description__c":"Spondyloepimetaphyseal dysplasia, Isidor type is rare primary bone dysplasia disorder characterized by normal birth length with early postnatal growth deficiency resulting in severe disproportionate short stature (with short trunk and limbs), severe genum varum, flexion contractures in the hips and lumbar hyperlordosis. Radiological findings reveal platyspondyly with central indentation of vertebral endplates, progressive and severe epimetaphyseal abnormalities that primarily affect the lower limbs and include very small, irregular proximal femoral and knee epiphyses, severe coxa vara, delayed ossification of proximal femoral epiphyses, and irregular distal femoral and proximal tibial metaphyses.","GARD_Name__c":"Spondyloepimetaphyseal dysplasia, Isidor type","GARD_Synonym__c":"spondyloepimetaphyseal dysplasia isidor type","Curated_Disease_Description_Source__c":"ORPHA:370015","Curated_Disease_Description__c":"A rare primary bone dysplasia disorder characterized by normal birth length with early postnatal growth deficiency resulting in severe disproportionate short stature (with short trunk and limbs), severe genu varum, flexion contractures in the hips and lumbar hyperlordosis. Radiological findings reveal platyspondyly with central indentation of vertebral endplates, progressive and severe epimetaphyseal abnormalities that primarily affect the lower limbs and include very small, irregular proximal femoral and knee epiphyses, severe coxa vara, delayed ossification of proximal femoral epiphyses, and irregular distal femoral and proximal tibial metaphyses.","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:370015","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018254","ORPHANET_ID__c":"ORPHA:370015","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia espondiloepimetafisaria tipo isidor-toutain","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"displasia espondiloepimetafisaria tipo isidor-toutain","Spanish_GARD_Synonym__c":"displasia espondiloepimetafisaria con talla baja extrema; semdist","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 primary bone dysplasia disorder characterized by normal birth length with early postnatal growth deficiency resulting in severe disproportionate short stature (with short trunk and limbs), severe genu varum, flexion contractures in the hips and lumbar hyperlordosis. Radiological findings reveal platyspondyly with central indentation of vertebral endplates, progressive and severe epimetaphyseal abnormalities that primarily affect the lower limbs and include very small, irregular proximal femoral and knee epiphyses, severe coxa vara, delayed ossification of proximal femoral epiphyses, and irregular distal femoral and proximal tibial metaphyses.","Curated_Disease_Description_Source__c":"ORPHA:370015","GARD_Synonym__c":"spondyloepimetaphyseal dysplasia isidor type","Name":"Spondyloepimetaphyseal dysplasia, Isidor type","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":"Infancy","Provided_By__c":"ORPHA:370015"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:370015"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1676518","Source__c":"C5190629","Xref__c":"MEDGEN:1676518"},{"URL__c":"https://www.orpha.net/en/disease/detail/370015","Source__c":"C5190629; MONDO:0018254","Xref__c":"ORPHA:370015"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190629","Source__c":"C5190629","Xref__c":"C5190629"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=782821004","Source__c":"C5190629","Xref__c":"782821004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018254","Source__c":"GARD:0021586","Xref__c":"MONDO:0018254"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RPL13","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["spondyloepimetaphyseal dysplasia isidor type"]}