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 April 2024
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Cataract-congenital heart disease-neural tube defect syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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