Learn More About DiGeorge Syndrome

Overview

Learn More About DiGeorge Syndrome

One of the first steps after a DiGeorge syndrome diagnosis is understanding the condition. Diplomat is here to help. 

Overview

DiGeorge syndrome, which occurs when chromosome 22 is deleted, causes defects during fetal development. Those with DiGeorge are affected to varying extents; patients can display partial symptoms (most commonly facial abnormalities) or severe ones involving several body systems.

Facial abnormalities typically affect the mouth, ears and eyes and include cleft palate, heavy eyelids, low-set ears and wide-set eyes. The more severe symptoms, however, are internal. These include poor circulation, heart defects, delayed learning and speech development, and difficulty eating and gaining weight.

Patients might have issues with their thymus gland, which produces T lymphocytes. These cells are responsible for helping the body fight certain infections. Patients with DiGeorge can have a significantly reduced number, leading to greater chance of infection.

Sources

Mayo Clinic

Medscape

The information contained herein may not be construed as medical advice. It is for educational purposes only. Diplomat Pharmacy Inc. takes no responsibility for the accuracy or validity of the information contained herein, nor the claims or statements of any manufacturer.