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Join the MDS Registry Database
The MECP2 Duplication Syndrome (MDS) Registry is a partnership between the MECP2 Duplication Foundation, the Baylor College of Medicine, and the Jan and Dan Neurological Research Institute at Texas Children’s Hospital. We encourage all families to take part in this IRB approved study as it is critical in helping work towards a future treatment.
Newly Diagnosed
We are here to help you. Access information and resources so you can learn more about MECP2 Duplication Syndrome and navigate your child’s care.
What is MECP2 Duplication Syndrome?
MECP2 Duplication Syndrome is a rare neurogenetic disorder. It is usually found in males, although cases have been found in females. The syndrome is caused by a duplication of the MECP2 gene on the X chromosome and is usually inherited. Duplication of the MECP2 gene leads to an abundance of protein and causes symptoms such as intellectual disability, limited or absent speech, low muscle tone, and developmental delays. Symptoms often include frequent respiratory infections, autistic behaviors, seizures, progressive muscle spasticity, and feeding and gastrointestinal issues.
Source: https://ghr.nlm.nih.gov
Find a Doctor
Explore parent-approved resources and physicians for MECP2 Duplication Syndrome Families.
MECP2 Duplication Foundation
Who We Are
The MECP2 Duplication Foundation is a family-founded organization providing support for the MECP2 Duplication community. Our goal is to provide families diagnosed with this disorder information and support, to increase awareness of the disorder, and to provide funding to cutting edge research that will one day treat those affected and enhance their quality of life.
Meet the Families
The individuals affected by MECP2 duplication syndrome have a name and a story. Take a moment to learn about these incredible families and their MECP2 duplication journey.
You Can Help
Are you ready to help support families and find a cure but you don’t know where to start? Join the patient database, donate, sign up for future communications, or host your own fundraiser by contacting using the links below.