{"Name":"Cloverleaf skull-asphyxiating thoracic dysplasia syndrome","DiseaseID__c":"GARD:0000853","id":853,"encodedName":"cloverleaf-skull-asphyxiating-thoracic-dysplasia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cloverleaf skull-asphyxiating thoracic dysplasia syndrome","Xref_IDs__c":"C5190852; MEDGEN:1674171; MONDO:0015086; ORPHA:100978","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":"ORPHA:100978","Disease_Description__c":"A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987.","GARD_Name__c":"Cloverleaf skull-asphyxiating thoracic dysplasia syndrome","GARD_Synonym__c":"benallegue lacete syndrome; benallegue-lacete syndrome; cloverleaf skull and asphyxiating thoracic dysplasia; cloverleaf skull, asphyxiating thoracic dysplasia syndrome","Curated_Disease_Description_Source__c":"ORPHA:100978","Curated_Disease_Description__c":"A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:100978","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015086","ORPHANET_ID__c":"ORPHA:100978","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de cráneo en trébol-displasia torácica asfixiante","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de cráneo en trébol-displasia torácica asfixiante","Spanish_GARD_Synonym__c":"síndrome de benallegue-lacete","Category_Linearization__c":"ORPHA:93890","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 syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987.","Curated_Disease_Description_Source__c":"ORPHA:100978","GARD_Synonym__c":"benallegue lacete syndrome; benallegue-lacete syndrome; cloverleaf skull and asphyxiating thoracic dysplasia; cloverleaf skull, asphyxiating thoracic dysplasia syndrome","Name":"Cloverleaf skull-asphyxiating thoracic dysplasia syndrome","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":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:100978"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1674171","Source__c":"C5190852","Xref__c":"MEDGEN:1674171"},{"URL__c":"https://www.orpha.net/en/disease/detail/100978","Source__c":"C5190852; MONDO:0015086; ORPHA:100978","Xref__c":"ORPHA:100978"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190852","Source__c":"C5190852","Xref__c":"C5190852"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783181006","Source__c":"C5190852","Xref__c":"783181006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015086","Source__c":"GARD:0000853","Xref__c":"MONDO:0015086"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["benallegue lacete syndrome"," benallegue-lacete syndrome"," cloverleaf skull and asphyxiating thoracic dysplasia"," cloverleaf skull, asphyxiating thoracic dysplasia syndrome"]}