{"Name":"Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome","DiseaseID__c":"GARD:0010101","id":10101,"encodedName":"spondyloepimetaphyseal-dysplasia-hypotrichosis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome","Xref_IDs__c":"C1866728; C535783; MEDGEN:357120; MONDO:0008469; OMIM:183849; ORPHA:168443","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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008469","Disease_Description__c":"Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.","GARD_Name__c":"Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome","GARD_Synonym__c":"spondyloepimetaphyseal dysplasia with hypotrichosis; spondyloepimetaphyseal dysplasia, hypotrichosis syndrome; whyte syndrome","Curated_Disease_Description_Source__c":"MONDO:0008469","Curated_Disease_Description__c":"A rare spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings. There have been no further description in the literature since 1990.","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:168443","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008469","ORPHANET_ID__c":"ORPHA:168443","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de displasia espondiloepimetafisaria-hipotricosis","Spanish_Description_Source__c":"ORPHA:168443","Spanish_Description__c":"El síndrome de displasia espondiloepimetafisaria - hipotricosis, es una displasia ósea primaria poco frecuente, caracterizada por hipotricosis congénita asociada a talla baja rizomélica (más pronunciada en las extremidades superiores que en las inferiores), abducción limitada de la cadera y genu varo leve. Los hallazgos radiológicos característicos son metáfisis ensanchadas e irregulares y osificación epifisaria tardía e irregular, así como cuerpos vertebrales en forma de pera.","Spanish_Disease_Name__c":"síndrome de displasia espondiloepimetafisaria-hipotricosis","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":"A rare spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings. There have been no further description in the literature since 1990.","Curated_Disease_Description_Source__c":"MONDO:0008469","GARD_Synonym__c":"spondyloepimetaphyseal dysplasia with hypotrichosis; spondyloepimetaphyseal dysplasia, hypotrichosis syndrome; whyte syndrome","Name":"Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"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:168443"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:168443"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/168443","Source__c":"C1866728; MONDO:0008469; ORPHA:168443","Xref__c":"ORPHA:168443"},{"URL__c":"https://www.omim.org/entry/183849","Source__c":"C1866728; MONDO:0008469; ORPHA:168443","Xref__c":"OMIM:183849"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535783","Source__c":"MONDO:0008469","Xref__c":"C535783"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1866728","Source__c":"C1866728","Xref__c":"C1866728"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=357120","Source__c":"C1866728","Xref__c":"MEDGEN:357120"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008469","Source__c":"GARD:0010101","Xref__c":"MONDO:0008469"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=773300008","Source__c":"C1866728","Xref__c":"773300008"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["spondyloepimetaphyseal dysplasia with hypotrichosis"," spondyloepimetaphyseal dysplasia, hypotrichosis syndrome"," whyte syndrome"]}