{"Name":"Metaphyseal chondrodysplasia, Kaitila type","DiseaseID__c":"GARD:0017018","id":17018,"encodedName":"metaphyseal-chondrodysplasia-kaitila-type","IsDeleted":false,"Disease_Name_Full__c":"Metaphyseal chondrodysplasia, Kaitila type","Xref_IDs__c":"C1855217; C565400; MEDGEN:344446; MONDO:0009594; OMIM:250230; ORPHA:166038","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":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009594","Disease_Description__c":"Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.","GARD_Name__c":"Metaphyseal chondrodysplasia, Kaitila type","GARD_Synonym__c":"metaphyseal chondrodysplasia kaitila type","Curated_Disease_Description_Source__c":"ORPHA:166038","Curated_Disease_Description__c":"Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:166038","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009594","ORPHANET_ID__c":"ORPHA:166038","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Condrodisplasia metafisaria tipo kaitila","Spanish_Description_Source__c":"ORPHA:166038","Spanish_Description__c":"Es una displasia metafisaria múltiple poco frecuente, caracterizada por talla baja desproporcionada, dedos y extremidades cortos, malacia traqueobronquial y escoliosis toracolumbar progresiva. La imagen radiológica muestra la progresión desde una notable displasia metafisaria de huesos tubulares en la infancia hasta huesos cortos y anchos con displasia leve de las articulaciones en la edad adulta. No se han descrito nuevos casos en la literatura desde 1982.","Spanish_Disease_Name__c":"condrodisplasia metafisaria tipo kaitila","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":"Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood.","Curated_Disease_Description_Source__c":"ORPHA:166038","GARD_Synonym__c":"metaphyseal chondrodysplasia kaitila type","Name":"Metaphyseal chondrodysplasia, Kaitila 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":"Neonatal","Provided_By__c":"ORPHA:166038"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565400","Source__c":"MONDO:0009594","Xref__c":"C565400"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1855217","Source__c":"C1855217","Xref__c":"C1855217"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=344446","Source__c":"C1855217","Xref__c":"MEDGEN:344446"},{"URL__c":"https://www.omim.org/entry/250230","Source__c":"C1855217; MONDO:0009594; ORPHA:166038","Xref__c":"OMIM:250230"},{"URL__c":"https://www.orpha.net/en/disease/detail/166038","Source__c":"C1855217; MONDO:0009594; ORPHA:166038","Xref__c":"ORPHA:166038"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770909004","Source__c":"C1855217","Xref__c":"770909004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009594","Source__c":"GARD:0017018","Xref__c":"MONDO:0009594"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["metaphyseal chondrodysplasia kaitila type"]}