DeSanto-Shinawi Syndrome is a rare and newly discovered genetic disorder characterized by a mutation of the WAC gene. It has been identified in less than 100 people worldwide. Patients exhibit dysmorphic features including a broad or prominent forehead, synophrys and/or bushy eyebrows, depressed nasal bridge, and bulbous nasal tip.
ABOUT THE FOUNDATION
The DESSH Foundation was established to raise awareness of DeSanto-Shinawi Syndrome (DESSH) 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.