Slideshows Images Quizzes

Copyright © 2018 by RxList Inc. RxList does not provide medical advice, diagnosis or treatment. See additional information.

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:

Also known as Shprintzen syndrome.

See also: DiGeorge syndrome.

From WebMD Logo

Parenting & Children's Health Resources
Reviewed on 9/7/2018

Health Solutions From Our Sponsors