Velo-cardio-facial (VCF) syndrome

Also known as Shprintzen syndrome, this is a congenital malformation (birth defect) syndrome of birth defects that include with cleft palate (velum), heart (cardio) defects, an abnormal facial structure, 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. Many people with VCF also have mood swings like those seen in bipolar disorders. The cause is usually a microdeletion in chromosome band 22q11.2, just as in DiGeorge syndrome, so. VCF and DiGeorge syndromes are different clinical expressions of essentially the same chromosome defect. Treatment is by surgery to correct the physical defects, and medication, therapy, and special education to assist with the cognitive and neurological effects, if present. of essentially the same chromosome defect.Also known as Shprintzen syndrome. See also bipolar disorders, DiGeorge syndrome.