What is Velocardiofacial Syndrome (VCFS)?
Velocardiofacial syndrome (VCFS) is a genetic disorder named for its major features which typically include cleft palate or soft palate dysfunction (VELO), congenital cardiac defects (CARDIO), and characteristic facial appearance (FACIAL), by Robert Shprintzen, Ph.D., a speech-language pathologist, in 1978. VCFS is a clinical (or “phenotypic”) diagnosis for the underlying genetic disorder called a chromosomal “22q11.2 deletion.” What is DiGeorge syndrome (DGS)? DiGeorge syndrome (DGS) (also referred to as the DiGeorge sequence or DiGeorge anomalad) is another disorder resulting from the 22q11.2 deletion. In 1965, Angelo DiGeorge, M.D., first described patients with hypocalcemia, immune deficiency, and congenital heart disease. In 1982, Elaine Zackai, M.D., identified a patient with features of DiGeorge syndrome including congenital heart disease, hypocalcemia, immune deficiency, cleft palate, and a gastrointestinal abnormality. What’s the difference between VCFS and DGS? It is widely r
