conotruncal facial anomaly

conotruncal facial anomaly

A genetic condition featuring abnormally wide separation of the eyes with narrowed lid openings and puffy lids; misshapen nose that appears to be divided into an upper and a lower part; and low-set ears with lobe anomalies. The condition is nearly always associated with abnormalities in the internal structures of the neck. It is caused by CONTIGUOUS GENE SYNDROME involving 24 to 30 genes on chromosome 22. See also DI GEORGE SYNDROME and T-BOX GENE SYNDROME.
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005