What unique facial feature is often noted in patients with DiGeorge syndrome?

In patients with DiGeorge syndrome, a short philtrum is a characteristic facial feature that can often be observed. The philtrum is the vertical groove between the base of the nose and the border of the upper lip. In many individuals with this condition, this feature appears shortened or less pronounced, contributing to a distinct facial aesthetic commonly associated with the syndrome.

DiGeorge syndrome, which results from a deletion of a small part of chromosome 22, involves several clinical manifestations including congenital heart defects, immune deficiencies, and developmental delays, all of which may contribute to the overall phenotype noticed. The short philtrum is a notable aspect of the facial manifestations seen in these patients, making it a significant point of identification for medical professionals assessing for the syndrome.

Other options present features that could be seen in various conditions, but they are not specifically associated with DiGeorge syndrome. This specificity makes the identification of a short philtrum particularly relevant in understanding and diagnosing this genetic disorder.