Further Delineation of the De Santo Shinawi Syndrome Phenotype Using a Series of Individuals Carrying a Pathogenic Variant of the WAC Gene

What this Trial Is About

Researchers are conducting a retrospective, multicenter observational study to better understand DeSanto-Shinawi Syndrome (DESSH), a rare condition caused by changes in the WAC gene. The study aims to expand knowledge about the range of symptoms and how the syndrome develops over time by collecting data from many genetically diagnosed patients worldwide. This will help improve future care and management for patients and their families. The study includes children and adults of any age who have a confirmed genetic diagnosis involving a pathogenic or likely pathogenic variant of the WAC gene. Researchers will gather standardized clinical and paraclinical examination data at diagnosis and during follow-up visits. The study compares individuals with point mutations in the WAC gene to those with larger genetic deletions affecting the gene. Participants will be observed through medical records and clinical data collection over an average of two years. The study will review clinical signs, perform standardized assessments, and analyze management and follow-up approaches. The main outcome is to enhance clinical and paraclinical knowledge of DESSH and understand how symptoms recur and relate to genetic differences. This information aims to help patients, caregivers, and healthcare providers anticipate and plan for future care needs.

Further Delineation of the De Santo Shinawi Syndrome Phenotype Using a Series of Individuals Carrying a Pathogenic Variant of the WAC Gene