Jordan’s syndrome

Jordan’s Syndrome is an ultra-rare neurodevelopmental disorder caused by mutations in the PPP2R5D gene. These genetic changes impact the way a particular protein (part of the PP2A family) works, which is important for regulating many processes in brain development and cell growth.

While the condition is still being researched, individuals with Jordan’s Syndrome may experience a variety of symptoms, including:

• Global developmental delays
• Low muscle tone (hypotonia)
• Intellectual disability
• Speech impairments
• Autism spectrum disorder (in some cases)
• Seizures or epilepsy (less commonly)

Jordan’s Syndrome is often diagnosed in early childhood following developmental concerns and confirmed through genetic testing. As research continues, our understanding of the condition—and how it may affect other parts of the body—is evolving.

Living with Jordan’s Syndrome

Each person with Jordan’s Syndrome is unique. Children and adults living with this condition may benefit from a combination of:

• Early intervention therapies (such as speech, occupational, and physical therapy)
• Educational support
• Ongoing medical monitoring

Because it is such a rare condition, support from a connected and informed community can make a big difference.

Support and Resources

We are proud to signpost to Jordan’s Guardian Angels, a global organisation leading the way in:

• Research and genetic discovery
• Family and caregiver support
• Advocacy and awareness
• Community-building for affected families

Jordan’s Guardian Angels is actively partnering with scientists and clinicians around the world to better understand this condition and develop future treatments.

🔗 Visit www.jordansguardianangels.org for more information, resources, and to connect with other families affected by Jordan’s Syndrome.

If you’re in Northern Ireland and have been affected by Jordan’s Syndrome, we at NIRDP are here to help. Please don’t hesitate to get in touch with us.

📧 Contact us: support@nirdp.org.uk