{"Name":"Cataract - congenital heart disease - neural tube defect syndrome","DiseaseID__c":"GARD:0017440","id":17440,"encodedName":"cataract-congenital-heart-disease-neural-tube-defect-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cataract - congenital heart disease - neural tube defect syndrome","Xref_IDs__c":"C1842363; C564271; MEDGEN:330832; MONDO:0011995; OMIM:608227; ORPHA:314993","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011995","Disease_Description__c":"Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.","GARD_Name__c":"Cataract - congenital heart disease - neural tube defect syndrome","GARD_Synonym__c":"cataract-congenital heart disease-neural tube defect syndrome","Curated_Disease_Description_Source__c":"MONDO:0011995","Curated_Disease_Description__c":"Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:314993","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011995","ORPHANET_ID__c":"ORPHA:314993","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de cataratas-enfermedad cardíaca congénita-defectos del tubo neural","Spanish_Description_Source__c":"ORPHA:314993","Spanish_Description__c":"El síndrome de cataratas-enfermedad cardíaca congénita-defectos del tubo neural es un síndrome de anomalías congénitas múltiples caracterizado por defectos del tubo neural en el área sacra resultando en médula anclada, defectos cardíacos septales auriculares y/o ventriculares (que se detectan en la infancia), hipermetropía bilateral simétrica, cataratas rápidamente progresivas en la infancia temprana, glaucoma afáquico bilateral y rasgos faciales anómalos (línea frontal de implantación del cabello baja, orejas pequeñas, surco nasolabial corto, incisivos centrales prominentes y muy espaciados entre sí, y micrognatia). También se ha descrito hipotonía, retraso del crecimiento y del desarrollo, crisis y limitaciones articulares.","Spanish_Disease_Name__c":"síndrome de cataratas-enfermedad cardíaca congénita-defectos del tubo neural","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":"Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.","Curated_Disease_Description_Source__c":"MONDO:0011995","GARD_Synonym__c":"cataract-congenital heart disease-neural tube defect syndrome","Name":"Cataract - congenital heart disease - neural tube defect 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":"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":"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":"Infancy","Provided_By__c":"ORPHA:314993"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:314993"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/314993","Source__c":"C1842363; MONDO:0011995","Xref__c":"ORPHA:314993"},{"URL__c":"https://www.omim.org/entry/608227","Source__c":"C1842363; MONDO:0011995; ORPHA:314993","Xref__c":"OMIM:608227"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564271","Source__c":"MONDO:0011995","Xref__c":"C564271"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=330832","Source__c":"C1842363","Xref__c":"MEDGEN:330832"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1842363","Source__c":"C1842363","Xref__c":"C1842363"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011995","Source__c":"GARD:0017440","Xref__c":"MONDO:0011995"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["cataract-congenital heart disease-neural tube defect syndrome"]}