What is Beck-Fahrner Syndrome?
Beck-Fahrner syndrome (BEFAHRS) is a rare genetic disorder caused by a gene variant/mutation of the TET3 (Tet Methylcytosine Dioxygenase 3) gene. In the case of Beck-Fahrner syndrome, this mutation in the TET3 gene causes the TET3 protein to malfunction or to not to be produced sufficiently, ultimately disrupting normal development and causing health problems.
Beck-Fahrner syndrome is characterized by is characterized by global developmental delay and/or intellectually disability with mild to severe intellectual impairment. Affected individuals often have behavioral manifestations, such as autistic features, anxiety, or attention deficit-hyperactivity disorder (ADHD).
What we do
Our mission is to accelerate full spectrum research to cure Beck-Fahrner syndrome (TET3 deficiency) and to empower affected families with information, knowledge, and connectivity.
The Beck-Fahrner Syndrome Foundation offers a community of guidance and support to families and individuals affected by Beck-Fahrner syndrome. We prioritize establishing partnerships among medical, scientific, and patient communities. Through these partnerships, the Beck-Fahrner Syndrome Foundation is committed to enhancing the quality of life for those affected by Beck-Fahrner syndrome.