Cataract-congenital heart disease-neural tube defect syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Cataract-congenital heart disease-neural tube defect syndrome?
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