Velocardiofacial+Syndrome-Description

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 plate, heart defects, abnormal facial structure, and learning problems. Less frequent features include short stature, small-than-normal head, 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 Di syndrome. Mrs. Krucina -- This was copied directly from http://www.medterms.com/script/main/art.asp?articlekey=5972 -- Mrs. Young