Cerebellar hypoplasia-tapetoretinal degeneration syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia bilateral retinal pigmentary changes intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay central and peripheral non-progressive visual impairment or asymptomatic retinal changes hypotonia non-progressive ataxia and nystagmus.

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 June 2024

Newly diagnosed with
Cerebellar hypoplasia-tapetoretinal degeneration syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.