{"Name":"Severe lateral tibial bowing with short stature","DiseaseID__c":"GARD:0021436","id":21436,"encodedName":"severe-lateral-tibial-bowing-with-short-stature","IsDeleted":false,"Disease_Name_Full__c":"Severe lateral tibial bowing with short stature","Xref_IDs__c":"766819001; C4707850; MEDGEN:1634340; MONDO:0017927; ORPHA:324307","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":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017927","Disease_Description__c":"Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.","GARD_Name__c":"Severe lateral tibial bowing with short stature","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0017927","Curated_Disease_Description__c":"Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:324307","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017927","ORPHANET_ID__c":"ORPHA:324307","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de incurvación tibial lateral grave-talla baja-escápula alada leve-dismorfia facial leve","Spanish_Description_Source__c":"ORPHA:324307","Spanish_Description__c":"Es una displasia primaria poco frecuente con huesos curvos. Está caracterizada por una curvatura tibial lateral uni-/bilateral significativa localizada en los dos tercios distales de la tibia, con el respectivo engrosamiento cortical y adelgazamiento de la curvatura tibial interna y externa, pérdida de hueso trabecular normal, anomalías bilaterales de las epífisis tibiales y placas de crecimiento, así como anomalías en los pies, incluyendo arcos inusualmente altos. Los individuos afectados presentan talla baja en ausencia de otras anomalías esqueléticas.","Spanish_Disease_Name__c":"síndrome de incurvación tibial lateral grave-talla baja-escápula alada leve-dismorfia facial leve","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":"Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.","Curated_Disease_Description_Source__c":"MONDO:0017927","Name":"Severe lateral tibial bowing with short stature","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":"Childhood","Provided_By__c":"ORPHA:324307"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1634340","Source__c":"C4707850","Xref__c":"MEDGEN:1634340"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4707850","Source__c":"C4707850","Xref__c":"C4707850"},{"URL__c":"https://www.orpha.net/en/disease/detail/324307","Source__c":"C4707850; MONDO:0017927; ORPHA:324307","Xref__c":"ORPHA:324307"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766819001","Source__c":"C4707850; MONDO:0017927","Xref__c":"766819001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017927","Source__c":"GARD:0021436","Xref__c":"MONDO:0017927"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":[""]}