{"Name":"Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome","DiseaseID__c":"GARD:0008719","id":8719,"encodedName":"spondylometaphyseal-dysplasia-bowed-forearms-facial-dysmorphism-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome","Xref_IDs__c":"C1843706; C535791; DOID:0112305; MEDGEN:375263; MONDO:0011856; OMIM:607543; ORPHA:168552","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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:168552","Disease_Description__c":"Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome is a rare, genetic, primary bone dysplasia disorder characterized by short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension, and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically, moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed.","GARD_Name__c":"Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome","GARD_Synonym__c":"smd with bowed forearms and facial dysmorphism","Curated_Disease_Description_Source__c":"ORPHA:168552","Curated_Disease_Description__c":"Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome is a rare, genetic, primary bone dysplasia disorder characterized by short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension, and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically, moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:168552","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011856","ORPHANET_ID__c":"ORPHA:168552","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de displasia espondiloepimetafisaria-antebrazos arqueados-dismorfia facial","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de displasia espondiloepimetafisaria-antebrazos arqueados-dismorfia facial","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":"Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome is a rare, genetic, primary bone dysplasia disorder characterized by short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension, and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically, moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed.","Curated_Disease_Description_Source__c":"ORPHA:168552","GARD_Synonym__c":"smd with bowed forearms and facial dysmorphism","Name":"Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"European Reference Network on Bone Disorders","Website__c":"https://ernbond.eu/"},{"Account_Name__c":"Kniest SED Group","Website__c":"https://ksginfo.org/"}],"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:168552"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/607543","Source__c":"C1843706; MONDO:0011856; ORPHA:168552","Xref__c":"OMIM:607543"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1843706","Source__c":"C1843706","Xref__c":"C1843706"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=375263","Source__c":"C1843706","Xref__c":"MEDGEN:375263"},{"URL__c":"https://www.orpha.net/en/disease/detail/168552","Source__c":"C1843706; MONDO:0011856","Xref__c":"ORPHA:168552"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112305","Source__c":"MONDO:0011856","Xref__c":"DOID:0112305"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535791","Source__c":"MONDO:0011856","Xref__c":"C535791"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011856","Source__c":"GARD:0008719","Xref__c":"MONDO:0011856"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["smd with bowed forearms and facial dysmorphism"]}