VELO-CARDIO-FACIAL (VCF) SYNDROME

Also known as Shprintzen syndrome, this > is a congenital malformation (birth defect) syndrome with cleft palate, heart defect, abnormal face, and learning problems. The condition is therefore called the velo-cardio-facial (VCF) syndrome. (The velum is the soft palate). Other less frequent features include short stature, small-than-normal head (microcephaly), mental retardation, minor ear anomalies, slender hands and digits, and inguinal hernia. The cause is usually a microdeletion in chromosome band 22q11.2, just as in DiGeorge syndrome. VCF and DiGeorge syndromes are different clinical expressions of essentially the same chromosome defect. of essentially the same chromosome defect.