Collage of 6 kids with CTNNB1

Community

Even though CTNNB1 Syndrome is a rare disease—impacting an estimated 1 in 50,000—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 an estimated 400 families waiting for the development of treatments for their children. In fact, 185 families have already joined our Patient Registry and Natural History Study.

Where We Live

How We’re Affected

The symptoms of CTNNB1 Syndrome vary widely across known cases, as does the extent to which the CTNNB1 gene has been deleted or mutated according to genetic testing. Based on the 2020 CTNNB1 Syndrome Survey, here’s a snapshot look at how our community experiences this rare condition.

  • Of the 104 children and young adults included in the survey, ages range from 1 to 24.
  • For almost 90% of responders, CTNNB1 is the only gene affected.
  • 70% of affected youth experience spasticity in the lower extremities
  • 97% have a developmental delay
  • More than 60% have been diagnosed with Autism or have autistic behaviors

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.