Synonyms: CSS
A rare genetic syndromic intellectual disability of broad phenotypic range characterized by developmental delay and variable clinical features which most commonly but not consistently include aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and coarse facial features.
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 September 2024
Newly diagnosed with
Coffin-Siris syndrome?
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Advocacy Organizations
Coffin-Siris Syndrome Foundation
The mission of the Coffin-Siris Syndrome (CSS) Foundation is to support, connect, and inform the CSS community, and to promote, and fund related research.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
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.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.