Fewer than 200 diagnosed globally.
DeSanto-Shinawi Syndrome is a rare genetic disorder characterized by a mutation of the WAC gene. The mutation causes the gene to lose function and fail to produce the WAC protein in all cells. It is characterized by developmental delay, hypotonia, behavioral problems, intellectual disability, feeding difficulty, speech delay, hearing and vision issues, seizures, and immune suppression, among other symptoms. All patients exhibit dysmorphic features. The syndrome is often referred to as DESSH.
The DESSH Foundation was established to raise awareness among the medical profession and the general public, to advance research and education related to DESSH, and to provide a support community for patients and families challenged by DESSH.
The DESSH foundation is excited to host the #Dash4DESSH Virtual Run.
Opportunities exist to advance the knowledge and understanding of DeSanto-Shinawi Syndrome. Scientists are collecting data for their research and The DESSH Foundation supports their work. One of the Foundation’s goals is to further our cause through ongoing research. With your generous donations and fundraising efforts, you have the capacity to help us in our endeavor to find the best treatments and therapies to improve the lives of those affected by DESSH.