About TBR1 Syndrome

A rare genetic neurodevelopmental condition

What is TBR1 Syndrome?

TBR1 syndrome, also called TBR1-related disorder, is a rare genetic neurodevelopmental condition caused by changes in the TBR1 gene. This gene 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 bring families, clinicians, and researchers together in one place, so no one has to walk this path alone.

Every TBR1 story matters. Together, we move research and support forward.

Connect With the TBR1 Community

People

The People Behind TBR1Syndrome.com

Families, advocates, and scientific collaborators working together.

Parent Advocate

Founder & TBR1 parent

Frequently Asked Questions

Have Questions About TBR1 Syndrome?

What is TBR1 syndrome in simple terms?

TBR1 syndrome is a genetic condition caused by a change 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 development.

How rare is TBR1 syndrome?

TBR1 syndrome is extremely rare. Only a small number of individuals worldwide have been reported in medical literature so far. Finding other families, sharing stories, and joining research efforts can help improve understanding of the condition.

Did I do anything to cause my child’s TBR1 diagnosis?

No. Parents do not cause TBR1 syndrome. In many families, the genetic change happens spontaneously for the first time in the child. This is often called a de novo genetic variant.

Where can we find support and reliable information?

This website brings together family stories, community updates, research-related resources, and ways to connect with other TBR1 families. Families should also work closely with their local medical, therapy, and education teams.

Mission

What We Do for the TBR1 Community

Connect Families

Bringing together parents and caregivers around the world who are living with TBR1-related disorder, so no family has to feel alone after diagnosis.

Share Knowledge

Curating plain-language information about TBR1 syndrome for families, clinicians, therapists, educators, and advocates.

Support Research

Helping families find research studies, registries, and opportunities to contribute to the understanding of TBR1-related disorder.

No family should walk through a TBR1 diagnosis alone

Whether you are newly diagnosed, searching for resources, or hoping to connect with other families, the TBR1 community is here to help.