The DESSH Foundation

The DESSH Foundation is a non-profit organization created and led by patients and families living with DeSanto-Shinawi Syndrome. 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.