Where We Live
Thanks to the information collected by CSAW, you can see just how global our community is and where there are families navigating similar medical journeys. Diagnoses are found all over the world, from the U.S., Canada and Mexico to Iceland, Chile, Italy, Turkey, Australia, China and more.
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
Learn more about CTNNB1 Syndrome and other rare diseases by tuning into the Once Upon a Gene podcast, created and hosted by fellow CTNNB1 parent Effie Parks.