Congenital cataract-hearing loss-severe developmental delay syndrome
Synonyms: Congenital cataract-deafness-severe developmental delay syndrome | Huppke-Brendel syndrome | Lethal neurodegenerative disorder due to copper transport defect
Congenital cataract-hearing loss-severe developmental delay syndrome is a rare genetic lethal neurometabolic disease characterized by congenital cataracts sensorineural hearing loss severe psychomotor developmental delay severe generalized muscular hypotonia and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia hypomyelination wide subarachnoid spaces) in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been 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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Congenital cataract-hearing loss-severe developmental delay 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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