Understanding DiGeorge syndrome: Causes, Symptoms, and Management

Sign In

All Posts Conditions About

Explore Over 11,000+ Conditions, Medications, and Symptoms.

Get a personalized feed by signing up for free.

All Conditions

DiGeorge syndrome

by Alike Medical Team ∙ Updated on June 13, 2023

Additional names

This group contains additional names: - Chromosome 22q11.2 deletion - De George's Syndrom

General

DiGeorge syndrome is a genetic disorder that causes heart defects, impaired immune system and developmental delay. The disorder’s characteristics are usually present at birth or in early childhood. The people who have DiGeorge syndrome are missing a small piece of chromosome 22, that’s why the condition is also known as 22q11.2 deletion syndrome. Children with DiGeorge syndrome have an increased risk of having autism spectrum disorder and ADHD. When they grow up they tend to have more mood disorders and schizophrenia.

18 people with DiGeorge syndrome are on Alike.

"Alike is the place to get answers from people who firsthand share your health challenges"

Signs & symptoms

DiGeorge syndrome symptoms vary from patient to patient, sometimes people with DiGeorge may not have any symptoms at all. Symptoms may include facial features such as hooded eyelids, cheek flatness, prominent bulbous nasal tip, underdeveloped chin. Other symptoms include breathing problems, developmental delay, learning disabilities, congenital heart disease, hypocalcemia, recurrent infections, kidney abnormality, endocrine system problems, speech problems, cleft lip and palate.

Diagnosis

DiGeorge syndrome is usually diagnosed upon physical examination when healthcare providers see the features of the syndrome. Then, genetic testing may be done to confirm the diagnosis. Imaging tests may be done to search for the involvement of other organs.

Treatment

DiGeorge syndrome has no cure, treatment is given to treat the symptoms and may vary between patients. For example, antibiotics may be given to treat infections, calcium supplements for low calcium levels, ear tubes to improve hearing, physical therapy, and even surgical procedures.

Note

☝ We provide information on prescription and over-the-counter medicines, diagnosis, procedures and lab tests. This material is provided for educational purposes only and is not medical advice, diagnosis or treatment.

National Institutes of Health ∙ World Health Organization ∙ MedlinePluse ∙ Centers for Disease Control and Prevention

☝ All information has been reviewed by certified physicians from Alike

Alike Wisdom

Instantly get answers to medical questions with our AI, built from the collective wisdom of our community facing similar experiences

Alike is a transformative platform that goes beyond just bringing together patients; it meticulously connects individuals based on multiple critical factors, such as age, gender, comorbidities, medications, diet, and more, fostering a community of knowledge, support and empathy.

About Alike Wisdom Blog FAQ Editorial Team All Conditions All Posts All Communities Support

Your Privacy Stories Community Guidelines Terms of Use Privacy Policy Helplines Contact Us Group Chats Guidelines Moderation Process