{"Name":"Isolated encephalocele","DiseaseID__c":"GARD:0006333","id":6333,"encodedName":"isolated-encephalocele","IsDeleted":false,"Disease_Name_Full__c":"Isolated encephalocele","Xref_IDs__c":"1263449003; C5680519; MEDGEN:1830107; MONDO:0016057; ORPHA:199647","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0016057","Disease_Description__c":"Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur.","GARD_Name__c":"Isolated encephalocele","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"GARD:0006333","Curated_Disease_Description__c":"Encephaloceles are rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. The result is a groove down the midline of the upper part of the skull, or the area between the forehead and nose, or the back of the skull. When located in the back of the skull, Encephaloceles are often associated with neurological problems. Encephaloceles are usually dramatic deformities diagnosed immediately after birth; but occasionally a small Encephalocele in the nasal and forehead region can go undetected. There is a genetic component to the condition; it often occurs in families with a history of spina bifida and anencephaly in other family members.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:199647","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016057","ORPHANET_ID__c":"ORPHA:199647","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Encefalocele aislado","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"encefalocele aislado","Spanish_GARD_Synonym__c":null,"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":"Encephaloceles are rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. The result is a groove down the midline of the upper part of the skull, or the area between the forehead and nose, or the back of the skull. When located in the back of the skull, Encephaloceles are often associated with neurological problems. Encephaloceles are usually dramatic deformities diagnosed immediately after birth; but occasionally a small Encephalocele in the nasal and forehead region can go undetected. There is a genetic component to the condition; it often occurs in families with a history of spina bifida and anencephaly in other family members.","Curated_Disease_Description_Source__c":"GARD:0006333","Name":"Isolated encephalocele","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"There Is Hope: Encephalocele Awareness","Website__c":"https://www.celeawareness.com/"},{"Account_Name__c":"Hydrocephalus Association","Website__c":"https://www.hydroassoc.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":"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":"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680519","Source__c":"C5680519","Xref__c":"C5680519"},{"URL__c":"https://www.orpha.net/en/disease/detail/199647","Source__c":"C5680519; MONDO:0016057; ORPHA:199647","Xref__c":"ORPHA:199647"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1830107","Source__c":"C5680519","Xref__c":"MEDGEN:1830107"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1263449003","Source__c":"C5680519","Xref__c":"1263449003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016057","Source__c":"GARD:0006333","Xref__c":"MONDO:0016057"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology"]},"synonyms":[""]}