{"Name":"Dennis-Fairhurst-Moore syndrome","DiseaseID__c":"GARD:0000290","id":290,"encodedName":"dennis-fairhurst-moore-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Dennis-Fairhurst-Moore syndrome","Xref_IDs__c":"C2931775; C538210; MEDGEN:419158; MONDO:0022851; ORPHA:2109","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":8,"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":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0022851","Disease_Description__c":"A severe form of Hallermann-Streiff syndrome, observed in one family. This is an n-of-1 use case where only one patient or family has been described with this disorder.","GARD_Name__c":"Dennis-Fairhurst-Moore syndrome","GARD_Synonym__c":"dennis fairhurst moore syndrome; hallermann streiff françois syndrome severe form; hallermann streiff like syndrome; hallermann-streiff-françois syndrome, severe form; hallermann-streiff-like syndrome; severe hallermann-streiff-françois syndrome","Curated_Disease_Description_Source__c":"ORPHA:2109","Curated_Disease_Description__c":"A rare genetic bone development disorder characterized by multiple congenital fractures, slender ribs and long bones, deficient ossification of the skull, and dysmorphic facial features reminiscent of Hallermann-Streiff syndrome (such as high forehead and triangular face with small jaw, deep-set eyes, beaked, narrow nose, downturned mouth, and posteriorly angulated ears). Bilateral microphthalmia, cataracts, and pulmonary hypoplasia have also been reported. The disease is fatal in the neonatal period.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:2109","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0022851","ORPHANET_ID__c":"ORPHA:2109","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome similar a hallermann-streiff","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome similar a hallermann-streiff","Spanish_GARD_Synonym__c":"síndrome de hallermann-streiff-like","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 genetic bone development disorder characterized by multiple congenital fractures, slender ribs and long bones, deficient ossification of the skull, and dysmorphic facial features reminiscent of Hallermann-Streiff syndrome (such as high forehead and triangular face with small jaw, deep-set eyes, beaked, narrow nose, downturned mouth, and posteriorly angulated ears). Bilateral microphthalmia, cataracts, and pulmonary hypoplasia have also been reported. The disease is fatal in the neonatal period.","Curated_Disease_Description_Source__c":"ORPHA:2109","GARD_Synonym__c":"dennis fairhurst moore syndrome; hallermann streiff françois syndrome severe form; hallermann streiff like syndrome; hallermann-streiff-françois syndrome, severe form; hallermann-streiff-like syndrome; severe hallermann-streiff-françois syndrome","Name":"Dennis-Fairhurst-Moore 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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2109"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2109"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419158","Source__c":"C2931775","Xref__c":"MEDGEN:419158"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931775","Source__c":"C2931775","Xref__c":"C2931775"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538210","Source__c":"MONDO:0022851","Xref__c":"C538210"},{"URL__c":"https://www.orpha.net/en/disease/detail/2109","Source__c":"C2931775; MONDO:0022851; ORPHA:2109","Xref__c":"ORPHA:2109"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1197057002","Source__c":"C2931775","Xref__c":"1197057002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0022851","Source__c":"GARD:0000290","Xref__c":"MONDO:0022851"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Dermatology","Orthopedics","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["dennis fairhurst moore syndrome"," hallermann streiff françois syndrome severe form"," hallermann streiff like syndrome"," hallermann-streiff-françois syndrome, severe form"," hallermann-streiff-like syndrome"," severe hallermann-streiff-françois syndrome"]}