Resources for Families

Understanding DDX3X Syndrome and how it can affect your child and your family is a daunting task, but you’re not alone. The DDX3X Foundation was created to support individuals and families experiencing the effects of the DDX3X mutation. 

DDX3X Syndrome is caused by a spontaneous mutation within a DDX3X gene at conception or can be inherited. 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 only been identified in about 700 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 has 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.

Research

Since 2015, we have facilitated the acceleration of research of DDX3X gene mutations by increasing the network of researchers from one to twenty and research papers from one to more than 100. Research on DDX3X gene functionality and mutations has accelerated drastically over the last years, largely due to the work of this community. Click below to read the research papers currently available on DDX3X Syndrome

Join The Facebook Group

This Facebook page is an online forum for support, resources, child updates, and parent questions. 

  • Say Hello! – introduce your child on the group’s timeline.
  • Go to the Files section of the Facebook page to access various group documents.
  • Invite your friends and family who want to know more about DDX3X Syndrome to join the group.

Contact us to get in touch with other DDX3X members in your area!


Family Days

Watch this series of talks from DDX3X Family Day events with speakers including researchers and clinicians.

Donate

Help further our efforts to find a cure for DDX3X Syndrome, and support those affected by it.

Donate

Registry

Register today to help expand what we know about DDX3X Syndrome and stay connected to our community.

Registry

Contact

We’re here to answer your questions and help connect you to our community.

Contact

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