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CTNNB1 Syndrome refers to either a deletion, partial deletion or mutation of the CTNNB1 gene. The CTNNB1 gene provides the blueprint for the creation of beta-catenin, which is a multitasking protein that allows for cell specialization, cell division/growth, cell adhesion, and inter-cell communication, among other things. Depending on the degree of alteration or mutation, there will be a wide range of abilities that are affected in subjects with CTNNB1 Syndrome, as well as some possible changes in physical appearance.


Early scholarly work was focused on genetic testing of subjects with autistic symptoms, as a possible explanation of Autism Spectrum Disorder; however, few patients diagnosed with CTNNB1 Syndrome are now also diagnosed as being on the Autism Spectrum. is conducting a comprehensive survey to determine the actual percentages of subjects with CTNNB1 who have various symptoms.

There are currently around 200 people in the world known to have been diagnosed with CTNNB1 Syndrome. If you or a loved one have been recently diagnosed, we would ask you to complete the survey to be placed on the registry.  For the privacy of those with the syndrome, we ask that you don’t include actual names, but that you include a codename for the person with CTNNB1 Syndrome and an email address where we can follow up with additional questions or resources.




Early scientific literature examined just a few patients who had similar symptoms and made definitive statements as to the symptoms that would be common to all with CTNNB1 Syndrome. Based off of those more recently diagnosed, we now know that many who have an altered CTNNB1 gene may not have any of those symptoms. Although a comprehensive list of symptoms that are even tangentially related to CTNNB1 won’t be available without a more in-depth survey, anecdotal evidence indicates that CTNNB1 Syndrome is a spectrum ranging from mild developmental delays to severe physical and intellectual disabilities.  


Some symptoms that have been noticed in subjects with CTNNB1 Syndrome (and which are included on the comprehensive survey) include global developmental delay, spasticity, hypotonia, microcephaly, amblyopia, strabismus, and hyperopia.  Because there are some subjects who have multiple genetic alterations, we need to isolate the symptoms that are directly related to alteration or deletion of CTNNB1 before we include a comprehensive list of symptoms.


Appearance Markers:


In addition to the symptoms listed above, there are appearance markers that have been noted in scientific literature, including sparse or thin hair, atypically large bridge of the nose, thin upper lip, pale or translucent skin, and unevenly spaced teeth, although many who have been recently diagnosed may have only one or none of the appearance markers.




Many with CTNNB1 Syndrome have repetitive behaviors and sensory processing issues that can be misdiagnosed as Autism Spectrum Disorder.  In addition, they may also have a high startle reflex.  




CTNNB1 Syndrome is definitively diagnosed using Whole Exome Sequencing (WES), a type of genetic test.  Prior to an official diagnosis, many are misdiagnosed as having either Autism Spectrum Disorder or Cerebral Palsy.




While there is no single treatment for CTNNB1 Syndrome, each of the symptoms associated with the syndrome may be treated.  Those with hypotonia, for instance, report excellent results with physical (physio) therapy, particularly if started early and maintained consistently. Speech-Language Pathology and Occupational Therapy are frequently needed. Hippotherapy (equine therapy) is also used, as well.  

  • Published Research Studies are available on the parent Facebook group. You must be a parent of a child with CTNNB1 Syndrome to join the group.

  • Simons Searchlight maintains a registry of those with CTNNB1 Syndrome (info at as well as a Facebook page at  We strongly encourage you to complete the steps to register.

  • University of Washington Bernier Labs has a limited number of spots for those with CTNNB1 in their Tiger Study

  • For information on CTNNB1 Research opportunities, check out our sister organization (Advancing CTNNB1 Cures and Treatments) at  

Other Resources:


  • Please follow the official CTNNB1 Syndrome Awareness Worldwide page at 

  • Follow CTNNB1 Syndrome Awareness Worldwide on twitter at

  • Our YouTube channel is at

  • For more information about genetics in general, check out the Genetics Home Reference site, maintained by the US National Institutes of Health. In particular, they have a helpful section called "Help Me Understand Genetics".



Unique ( has a Quick Guide about CTNNB1 Syndrome, although it is based off of early research, and may not necessarily reflect the experience of all with CTNNB1 Syndrome.

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