{"Name":"Smith-McCort dysplasia","DiseaseID__c":"GARD:0010620","id":10620,"encodedName":"smith-mccort-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Smith-McCort dysplasia","Xref_IDs__c":"715862006; C1846431; C564589; DOID:0060247; MEDGEN:375887; MONDO:0015799; OMIMPS:607326; ORPHA:178355","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:0015799","Disease_Description__c":"Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC; see this term), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.","GARD_Name__c":"Smith-McCort dysplasia","GARD_Synonym__c":"smc; smith mccort dysplasia","Curated_Disease_Description_Source__c":"MONDO:0015799","Curated_Disease_Description__c":"Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:178355","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015799","ORPHANET_ID__c":"ORPHA:178355","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia de smith-mccort","Spanish_Description_Source__c":"ORPHA:178355","Spanish_Description__c":"Es una displasia espondilo-epi-metafisaria poco frecuente caracterizada por las siguientes manifestaciones clínicas: facies tosca, cuello corto, talla baja de tronco corto con tórax en tonel y acortamiento rizomélico de las extremidades, así como características radiológicas específicas (es decir, platispondilia generalizada con ''doble joroba'' de los cuerpos vertebrales y crestas ilíacas festoneadas) e inteligencia normal. Las características clínicas y esqueléticas son similares a las observadas en el trastorno alélico del síndrome de Dyggve-Melchior-Clausen (DMC), pero se pueden distinguir de éste por la ausencia de discapacidad intelectual y microcefalia.","Spanish_Disease_Name__c":"displasia de smith-mccort","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":"Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.","Curated_Disease_Description_Source__c":"MONDO:0015799","GARD_Synonym__c":"smc; smith mccort dysplasia","Name":"Smith-McCort dysplasia","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:178355"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010620","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/178355","Source__c":"C1846431; MONDO:0015799; ORPHA:178355","Xref__c":"ORPHA:178355"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1846431","Source__c":"C1846431","Xref__c":"C1846431"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564589","Source__c":"MONDO:0015799","Xref__c":"C564589"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060247","Source__c":"MONDO:0015799","Xref__c":"DOID:0060247"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=375887","Source__c":"C1846431","Xref__c":"MEDGEN:375887"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715862006","Source__c":"C1846431; MONDO:0015799","Xref__c":"715862006"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS607326","Source__c":"MONDO:0015799","Xref__c":"OMIMPS:607326"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015799","Source__c":"GARD:0010620","Xref__c":"MONDO:0015799"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RAB33B","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"DYM","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["smc"," smith mccort dysplasia"]}