Community

Even though CTNNB1 Syndrome is a rare disease—impacting an estimated 1 in 35,000—our community of children, families, friends, researchers, healthcare professionals and partners has created a network that extends beyond individual geographies and genetics.

Right now, there are more than 430 families waiting for the development of treatments for their children. In fact, 221 families are currently represented in our Natural History Studies.

Where We Live

If you are a CTNNB1 family, please check this list to see if you’ve been counted, and if not please fill out this form!

How We’re Affected

The symptoms of CTNNB1 Syndrome vary widely across known cases as well as the extent to which the CTNNB1 gene has been deleted or mutated, which is identified through genetic testing. Based on the 2023 CTNNB1 Symptoms Survey, here’s a snapshot look at how our community experiences this rare condition.

If you are a CTNNB1 family and you haven’t filled out the Symptoms Survey yet, please do so here!

Meet Our Champions

Get to know us beyond the diagnosis! Our children are champions that thrive with the love and care of their families, friends and medical teams. See their smiles and read their stories.

Listen to Our Stories

Tune into the CTNNB1 Connect and Cure Podcast, hosted by CTNNB1 mom Annie Wood, to learn more about CTNNB1 Syndrome and the Once Upon a Gene Podcast, hosted by CTNNB1 mom Effie Parks, to hear stories from others in the rare disease community.