{"Name":"Isolated congenital microcephaly","DiseaseID__c":"GARD:0003603","id":3603,"encodedName":"isolated-congenital-microcephaly","IsDeleted":false,"Disease_Name_Full__c":"Isolated congenital microcephaly","Xref_IDs__c":"C0025958; C85874; DOID:0070297; MEDGEN:44422; MONDO:0016056; ORPHA:199642","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"GARD:0003603","Disease_Description__c":"Microcephaly is a rare neurological condition in which a person's head is significantly smaller than expected based on standardized charts. Some cases of Microcephaly are detected at birth, while others develop in the first few years of life. Some children with Microcephaly have normal intelligence and development. However, Microcephaly can be associated with seizures; developmental delay; intellectual disability; problems with movement and balance; feeding difficulties; hearing loss; and/or vision problems depending on the severity of the condition. Because the growth of the skull is determined by brain growth, the condition often occurs when the brain fails to grow at a normal rate. This may be caused by a variety of genetic abnormalities; exposure to certain viruses (i.e. rubella, toxoplasmosis, and cytomegalovirus), drugs, alcohol, or toxic chemicals during pregnancy; untreated maternal PKU during pregnancy; and/or severe malnutrition during pregnancy.","GARD_Name__c":"Isolated congenital microcephaly","GARD_Synonym__c":"microcephaly, primary; primary microcephaly; true microcephaly","Curated_Disease_Description_Source__c":"GARD:0003603","Curated_Disease_Description__c":"Isolated congenital microcephaly is a rare neurological condition in which a person's head is significantly smaller than expected based on standardized charts. Some children with isolated congenital microcephaly have normal intelligence and development. However, isolated congenital microcephaly can be associated with seizures; developmental delay; intellectual disability; problems with movement and balance; feeding difficulties; hearing loss; and/or vision problems depending on the severity of the condition. Because the growth of the skull is determined by brain growth, the condition often occurs when the brain fails to grow at a normal rate. This may be caused by a variety of genetic abnormalities; exposure to certain viruses (i.e. rubella, toxoplasmosis, and cytomegalovirus), drugs, alcohol, or toxic chemicals during pregnancy; untreated maternal PKU during pregnancy; and/or severe malnutrition during pregnancy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:199642","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016056","ORPHANET_ID__c":"ORPHA:199642","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Microcefalia congénita aislada","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"microcefalia congénita aislada","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","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":"Isolated congenital microcephaly is a rare neurological condition in which a person's head is significantly smaller than expected based on standardized charts. Some children with isolated congenital microcephaly have normal intelligence and development. However, isolated congenital microcephaly can be associated with seizures; developmental delay; intellectual disability; problems with movement and balance; feeding difficulties; hearing loss; and/or vision problems depending on the severity of the condition. Because the growth of the skull is determined by brain growth, the condition often occurs when the brain fails to grow at a normal rate. This may be caused by a variety of genetic abnormalities; exposure to certain viruses (i.e. rubella, toxoplasmosis, and cytomegalovirus), drugs, alcohol, or toxic chemicals during pregnancy; untreated maternal PKU during pregnancy; and/or severe malnutrition during pregnancy.","Curated_Disease_Description_Source__c":"GARD:0003603","GARD_Synonym__c":"microcephaly, primary; primary microcephaly; true microcephaly","Name":"Isolated congenital microcephaly","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Child Neurology Foundation","Website__c":"https://www.childneurologyfoundation.org/"},{"Account_Name__c":"Brain Foundation","Website__c":"http://www.brainfoundation.org.au/"}],"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"},{"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":"Antenatal","Provided_By__c":"ORPHA:199642"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:199642"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070297","Source__c":"MONDO:0016056","Xref__c":"DOID:0070297"},{"URL__c":"https://www.orpha.net/en/disease/detail/199642","Source__c":"C0025958; MONDO:0016056; ORPHA:199642","Xref__c":"ORPHA:199642"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0025958","Source__c":"C0025958","Xref__c":"C0025958"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=44422","Source__c":"C0025958","Xref__c":"MEDGEN:44422"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016056","Source__c":"GARD:0003603","Xref__c":"MONDO:0016056"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C008831","Source__c":"C0025958","Xref__c":"D008831"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85874","Source__c":"C0025958","Xref__c":"C85874"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["microcephaly, primary"," primary microcephaly"," true microcephaly"]}