Velo-cardio-facial syndrome (VCFS)

Boston Children’s Hospital is constantly looking for ways to prevent and treat diseases and disorders, including velo-cardio-facial syndrome (VCFS).

Research currently underway at Boston Children’s involves an investigation of genotype/phenotype correlations in VCSF:

The purpose of this study is to determine whether variations in genes are associated with different medical conditions seen in patients with velocardiofacial/DiGeorge syndrome (VCFS/DGS). Researchers hope to understand why VCFS/DGS is so different from person to person. For patients with VCFS/DGS the study involves a review of medical, developmental and family history; a physical exam; a blood draw and taking photographs. For family members the study involves a review of medical history and a blood draw.