Advancing Research To Treat DDX3X Syndrome
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.
Recently Diagnosed?
Hello and welcome to the DDX3X Foundation! If your child has just been diagnosed with DDX3X Syndrome, please know you have landed in a place of people who understand. You may be feeling scared or overwhelmed, or maybe you’re feeling grateful to finally have an answer to so many questions. Either way, you have found your tribe and we are here for you.
About DDX3X Syndrome
DDX3X Syndrome is a rare disease caused by a spontaneous mutation within a DDX3X gene at conception or can be inherited. This means nothing either parent did caused their child’s condition. The syndrome was discovered in the United States in 2014 and primarily affects girls due to its location on the X-chromosome, though there are some boys it has affected as well. Although it has currently only been identified in about 1000 individuals, doctors believe it is the cause of 1 to 3 percent of all intellectual disabilities in females.
DDX3X Syndrome is often misdiagnosed as autism spectrum disorder, cerebral palsy, Rett Syndrome, Dandy-Walker Syndrome, or a generic developmentally delayed label. It is linked to intellectual disabilities, seizures, autism, low muscle tone, abnormalities of the brain, and slower physical developments. It presents in a broad spectrum—some individuals develop the ability to speak in full sentences, while others are nonverbal. Some individuals run, jump, and even ski, while others are unable to walk.
Make a donation to support research for those affected by DDX3X Syndrome.
1180
Known Cases
40
Boys
1140
Girls
426
Registrants
17
Boys
409
Girls
Our Partners
Memberships
Research
Since 2015, we have facilitated the acceleration of research of DDX3X gene mutations by increasing our network of researchers and clinicians. Research on DDX3X gene functionality and mutations has accelerated drastically over the last years, largely due to the work of this community.
The DDX3X Foundation’s Impact
-
DDX3X Syndrome accounts for an estimated 1-3% of intellectual disabilities in females
-
1013 known cases across 56 countries
-
385 children currently in the patient registry
-
Raised over $1.6M
-
Awarded over $800,000 in research grants
-
Hosted 10 scientific conferences and family gatherings
