{"Name":"Port-wine nevi-mega cisterna magna-hydrocephalus syndrome","DiseaseID__c":"GARD:0004014","id":4014,"encodedName":"port-wine-nevi-mega-cisterna-magna-hydrocephalus-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Port-wine nevi-mega cisterna magna-hydrocephalus syndrome","Xref_IDs__c":"C5191040; MEDGEN:1682989; MONDO:0100367; ORPHA:2703","USA_Estimate__c":"1,000","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":"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":1,"Description_Source__c":"MONDO:0100367","Disease_Description__c":"A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.","GARD_Name__c":"Port-wine nevi-mega cisterna magna-hydrocephalus syndrome","GARD_Synonym__c":"nova syndrome; port-wine nevi, mega cisterna magna, hydrocephalus syndrome","Curated_Disease_Description_Source__c":"ORPHA:2703","Curated_Disease_Description__c":"A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy","SourceID__c":"ORPHA:2703","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0100367","ORPHANET_ID__c":"ORPHA:2703","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de mancha en vino de oporto-megacisterna magna-hidrocefalia","Spanish_Description_Source__c":"ORPHA:2703","Spanish_Description__c":"Es un síndrome por defectos del desarrollo embrionario poco frecuente caracterizado por malformación capilar de la glabela, hidrocefalia congénita comunicante y anomalías cerebrales de la fosa posterior, incluyendo la malformación de Dandy-Walker, la agenesia del vermis cerebeloso y la megacisterna magna. Este síndrome asocia convulsiones de forma ocasional. No ha habido más casos descritos en la literatura desde 1979.","Spanish_Disease_Name__c":"síndrome de mancha en vino de oporto-megacisterna magna-hidrocefalia","Spanish_GARD_Synonym__c":"síndrome de nova","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 developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated.","Curated_Disease_Description_Source__c":"ORPHA:2703","GARD_Synonym__c":"nova syndrome; port-wine nevi, mega cisterna magna, hydrocephalus syndrome","Name":"Port-wine nevi-mega cisterna magna-hydrocephalus 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":"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":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2703"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1682989","Source__c":"C5191040","Xref__c":"MEDGEN:1682989"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5191040","Source__c":"C5191040","Xref__c":"C5191040"},{"URL__c":"https://www.orpha.net/en/disease/detail/2703","Source__c":"C5191040; MONDO:0100367; ORPHA:2703","Xref__c":"ORPHA:2703"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100367","Source__c":"GARD:0004014","Xref__c":"MONDO:0100367"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783701002","Source__c":"C5191040","Xref__c":"783701002"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2703","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012157","HPO_Name__c":"Subcortical cerebral atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2703","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the vermis of cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002334","HPO_Synonym__c":"Abnormality of the cerebellar vermis","HPO_Name__c":"Abnormal cerebellar vermis morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2703","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Naevus flammeus localized in the skin of the eyelid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010733","HPO_Synonym__c":"Port-wine stain on eyelid","HPO_Name__c":"Naevus flammeus of the eyelid","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2703","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100308","HPO_Name__c":"Cerebral cortical hemiatrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2703","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2703","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atrophy of the cortex of the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002120","HPO_Synonym__c":"Cerebral cortex atrophy; Cortical atrophy; Decrease in size of the outer layer of the brain due to loss of brain cells","HPO_Name__c":"Cerebral cortical atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2703","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001321","HPO_Synonym__c":"Congenital cerebellar hypoplasia; Hypoplasia of cerebellum; Hypoplastic cerebellum; Small cerebellum; Underdeveloped cerebellum","HPO_Name__c":"Cerebellar hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2703","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005306","HPO_Synonym__c":"Capillary hemangiomata; Strawberry birthmark","HPO_Name__c":"Capillary hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2703","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2703","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011427","HPO_Name__c":"Enlarged fetal cisterna magna","HPO_Feature_Type__c":"Imaging_Ultrasound_Fetal"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Vascular Medicine","Pediatrics"]},"synonyms":["nova syndrome"," port-wine nevi, mega cisterna magna, hydrocephalus syndrome"]}