Definition of Velocardiofacial syndrome

Velocardiofacial syndrome: A congenital malformation syndrome characterized by abnormal development of the parathyroid glands, thymus, and heart that can be associated with various signs and symptoms including 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. The cause of the velocardiofacial (VCF) syndrome is a microdeletion in chromosome band 22q11.2. About 10% of patients with velocardiofacial syndrome have DiGeorge syndrome, which is caused by the same chromosome defect and consists of at least two of the following signs:

• Conotruncal cardiac anomaly
• Hypoparathyroidism, hypocalcemia
• Thymic aplasia, immune deficiency

Also known as Shprintzen syndrome.

See also: DiGeorge syndrome.