TBR1 syndrome (also called TBR1-related disorder) is a rare genetic neurodevelopmental condition caused by changes in the TBR1 gene, a gene that plays a key role in early brain development and how brain cells connect and communicate. When the TBR1 gene does not work as expected, many individuals experience differences in learning, development, behavior, and communication.
Because TBR1 syndrome is so rare, most families hear the diagnosis for the first time at the moment their child is diagnosed. It can feel isolating and overwhelming to be told that only a small number of people worldwide share the same condition. The goal of TBR1Syndrome.com is to change that—to bring families, clinicians, and researchers together in one place, so no one has to walk this path alone.
Here you can learn what is currently known about TBR1-related disorder, connect with other families around the world, and find links to research groups and registries that are actively studying TBR1. This community-led website does not replace medical advice, but it helps you find information, ask better questions, and bring real-life family experience into the conversation with your medical and educational teams.
TBR1 syndrome is a genetic condition caused by a change (variant) in the TBR1 gene, which helps guide early brain development. Because of this change, many people with TBR1 syndrome have differences in learning, speech and language, behavior, and movement. Each person is unique, but the TBR1 gene change is the common link.
TBR1 syndrome is extremely rare. Only a small number of individuals worldwide have been reported in medical literature so far. That is why finding other families, sharing stories, and joining research studies is so important—every single data point and family voice helps scientists understand this condition better.
No. Parents do not cause TBR1 syndrome. In many families the genetic change happens spontaneously for the first time in the child (this is called a de novo variant). Nothing a parent did—or did not do—during pregnancy or early life causes the genetic variant to appear.
This website brings together family stories, medical and research links, and ways to connect with other TBR1 families. We encourage you to work closely with your local medical and therapy teams and to share trusted resources about TBR1 syndrome with them. Together we can build a stronger, more informed network of care around every child and adult living with TBR1-related disorder.
Bringing together parents and caregivers around the world who are living with TBR1-related disorder, so no one feels alone with a rare diagnosis.
Curating plain-language information about TBR1 syndrome to support families, clinicians, therapists, and educators working with our community.
Helping families find research studies and registries focused on TBR1-related disorder and other rare genetic neurodevelopmental conditions.
Encouraging donations and fundraising efforts that sustain outreach, translation, and family resources for the global TBR1 syndrome community.
