{"Name":"Congenital varicella syndrome","DiseaseID__c":"GARD:0000045","id":45,"encodedName":"congenital-varicella-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Congenital varicella syndrome","Xref_IDs__c":"277644009; C0343560; C116800; MEDGEN:87473; MONDO:0017372; ORPHA:291","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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017372","Disease_Description__c":"A rare acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection.","GARD_Name__c":"Congenital varicella syndrome","GARD_Synonym__c":"antenatal varicella virus infection; mother-to-child transmission of varicella syndrome","Curated_Disease_Description_Source__c":"GARD:0000045","Curated_Disease_Description__c":"Congenital varicella syndrome is an extremely rare disorder in which affected infants have distinctive abnormalities at birth due to the mother's infection with chickenpox (maternal varicella zoster) early during pregnancy (i.e., up to 20 weeks gestation). Affected newborns may have a low birth weight and characteristic abnormalities of the skin, brain, eyes, the arms, legs, hands, and/or feet, and/or, in rare cases, other areas of the body. The range and severity of associated symptoms and physical findings may vary greatly from case to case depending upon when maternal varicella zoster infection occurred during fetal development.","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:291","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017372","ORPHANET_ID__c":"ORPHA:291","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de varicela congénita","Spanish_Description_Source__c":"ORPHA:291","Spanish_Description__c":"Es un síndrome poco frecuente de anomalías adquiridas del desarrollo que se caracteriza por defectos de la piel, neurológicos, oculares, de las extremidades y del crecimiento secundarios a la infección materna por el virus de la varicela-zoster (VVZ).","Spanish_Disease_Name__c":"síndrome de varicela congénita","Spanish_GARD_Synonym__c":"infección prenatal por el virus de la varicela; transmisión materna del síndrome de varicela; transmisión materna del síndrome de varicela congénita","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":"Congenital varicella syndrome is an extremely rare disorder in which affected infants have distinctive abnormalities at birth due to the mother's infection with chickenpox (maternal varicella zoster) early during pregnancy (i.e., up to 20 weeks gestation). Affected newborns may have a low birth weight and characteristic abnormalities of the skin, brain, eyes, the arms, legs, hands, and/or feet, and/or, in rare cases, other areas of the body. The range and severity of associated symptoms and physical findings may vary greatly from case to case depending upon when maternal varicella zoster infection occurred during fetal development.","Curated_Disease_Description_Source__c":"GARD:0000045","GARD_Synonym__c":"antenatal varicella virus infection; mother-to-child transmission of varicella syndrome","Name":"Congenital varicella syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Birth Defect Research for Children","Website__c":"https://www.birthdefects.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Infectious Disease","Tag_Category__c":"Disease Category;Specialist","category_description":"Infectious diseases are caused by bacteria, viruses, fungi, or parasites entering the body, multiplying, and spreading illness.","curated_tag_name":"Infectious diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Infectious Embryofetopathy","Tag_Category__c":"Cause","curated_tag_name":"Congenital Infectious Diseases"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:291"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:291"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=277644009","Source__c":"C0343560; MONDO:0017372","Xref__c":"277644009"},{"URL__c":"https://www.orpha.net/en/disease/detail/291","Source__c":"C0343560; MONDO:0017372","Xref__c":"ORPHA:291"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0343560","Source__c":"C0343560","Xref__c":"C0343560"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C116800","Source__c":"C0343560; MONDO:0017372","Xref__c":"C116800"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=87473","Source__c":"C0343560","Xref__c":"MEDGEN:87473"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017372","Source__c":"GARD:0000045","Xref__c":"MONDO:0017372"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:291","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atypically scarred skin .","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000987","HPO_Synonym__c":"Atypical scarring; Atypical scarring of skin","HPO_Name__c":"Atypical scarring of skin","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by abnormal smallness of one or both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000568","HPO_Synonym__c":"Abnormally small eyeball; Abnormally small globe of eye; Microphthalmos","HPO_Name__c":"Microphthalmia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of abnormally small extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002983","HPO_Synonym__c":"Smaller or shorter than typical limbs","HPO_Name__c":"Micromelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:291","HPO_Frequency__c":"Frequent (30-79%)","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:291","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Infectious Disease","Congenital Abnormality"],"Specialist":["Infectious Disease","Ophthalmology","Anterior segment of Eye","Pediatrics"],"Cause":["Infectious Embryofetopathy"]},"synonyms":["antenatal varicella virus infection"," mother-to-child transmission of varicella syndrome"]}