About

What is CTNNB1 Syndrome?

CTNNB1 Syndrome is a rare genetic neurodevelopmental disorder caused by changes (pathogenic variants or mutations) in the CTNNB1 gene.

SYMPTOMS:

Though CTNNB1 Syndrome can vary in presentation and severity of symptoms, it is generally characterized by:

  • Cognitive Impairment

  • Developmental Delay

  • Gross and Fine Motor Challenges

  • Speech Delays

  • Microcephaly

  • Behavioral Challenges

  • Sleep Disturbances

  • Epilepsy

  • Truncal Hypotonia

  • Peripheral Spasticity

  • Dystonia

  • Exudative Vitreoretinopathy

  • Strabismus

DIAGNOSIS:

CTNNB1 Syndrome diagnosis is made through genetic testing using a Whole Exome Sequencing or Whole Genome Test.

TREATMENTS:

Current treatment focuses on managing symptoms, and varies based on patient symptoms and co-existing disorders. Because patients with CTNNB1 Syndrome have a wide range of symptoms and functional challenges, they are often followed by a multi-disciplinary team. Treatments to address the disease itself are in development.

Media

Minnesota family fighting for daughter with ultra-rare genetic mutation, others like her

Thank you WCCO & CBS News Minnesota and David Schuman for helping us bring awareness to CTNNB1 Syndrome and to hear our story!

Inver Grove Heights parents hope to raise awareness, spark research surrounding their daughter’s rare disease

Thank you Ellen Galles KSTP for sharing Mae’s story. We continue to push forward for not only her but for the other 400+ kids in the world.

On Insight 7, we meet a local family on a path to making change

Thank you Town Square Television for sharing our story and for your heartfelt support. You all are so sweet and very special to our family.