Right now, there are an estimated 300 families waiting for the development of treatments for their children. In fact, 130 families have already joined our Patient Registry and Natural History Study, offering researchers a critical dataset of information as they work toward a cure, and more than 100 families contributed to the most recent CTNNB1 Syndrome Survey put together by our sister organization, CTNNB1 Syndrome Awareness Worldwide (CSAW).

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.