The DESSH Foundation is a non-profit organization created and led by patient families. 
DeSanto-Shinawi Syndrome (DESSH) is a rare neurodevelopmental genetic disease and is sometimes called WAC syndrome. It is an autosomal dominant condition caused by pathogenic variants of the WAC gene. DESSH is diagnosed using a test called whole exome sequencing and has only been identified in about 200 people worldwide. DESSH was first identified in 2015 in a study of 6 patients. Patients exhibit a variable degree of developmental delay, intellectual disability, hypotonia, ocular abnormalities, gastrointestinal abnormalities, epilepsy, behavioral difficulties, and recognizable facial differences.

The DESSH Foundation

Org chart

Teams

Offices

The DESSH Foundation

Org chart

Teams

Offices

Related companies