Velocardiofacial syndrome

A congenital malformation syndrome characterized by cleft palate, heart defects, abnormal facial structure, and learning problems.

Less frequent features include short stature, small-than-normal head (microcephaly), mental retardation, minor ear anomalies, slender hands and digits, and inguinal hernia.

Persons with the syndrome tend to have mood swings like those seen in bipolar disorder.

The cause of the velocardiofacial (VCF) syndrome is a microdeletion in chromosome band 22q11.2, as in the DiGeorge syndrome.

The 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.

Also known as Shprintzen syndrome.

See also bipolar disorders, DiGeorge syndrome.