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For patients with DiGeorge syndrome, our specialized programs combine treatment, patient education and support. We understand what it takes to cope with internal organ defects, congenital heart disease and increased vulnerability to infections. That’s why we’re here to guide patients through treatment and provide support—clinically, emotionally and financially. Throughout their journey with DiGeorge syndrome, we are in consistent contact with both the patient and their extended care team. Care is better when everyone works together.

DiGeorge Syndrome

One of the first steps after a DiGeorge syndrome diagnosis is understanding the condition. The information on this site and linked sites is not meant to replace your physician’s advice, medical care or a diagnosis. If you have questions about your disease, please ask your prescriber.

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 different 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.

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Resources

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