DiGeorge syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats DiGeorge syndrome?
A geneticist, a doctor who treats inherited conditions, may be part of the care team, along with a pediatrician (a children's doctor) or primary care doctor. Many specialists may join the team, such as a cardiologist (heart doctor) and an immunologist (immune system doctor). A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is DiGeorge syndrome?
DiGeorge syndrome is a rare condition that babies are born with. Doctors also call it 22q11.2 deletion syndrome. It happens when a small piece of chromosome 22 is missing. Chromosomes are the structures inside cells that carry genes.
This missing piece affects how several parts of the body develop. The heart, mouth, immune system, and blood calcium levels can be involved. Learning and behavior can be affected too. Signs can be mild or severe, even within one family.
Symptoms
Common signs include:
- Heart defects present at birth. These can include a ventricular septal defect (a hole in the wall between heart chambers) and tetralogy of Fallot (a complex heart defect present at birth).
- A cleft palate, an opening in the roof of the mouth, or a split uvula, the small piece of tissue at the back of the mouth. Speech can sound nasal.
- Low calcium in the blood, which can cause seizures.
- Frequent infections, because the thymus gland, a gland that helps build the immune system, may be missing or underdeveloped.
- Learning delays and speech delays. ADHD, autism, and anxiety are more common than in other children.
- Kidney differences, hearing loss, short stature, and mild facial differences.
Feeding problems and low muscle tone can also happen. Some people have few signs and go undiagnosed.
Causes and who gets it
The cause is the missing piece of chromosome 22 at a spot called 22q11.2. This area holds 30 to 40 genes. Losing these genes changes how the body develops before birth.
Most of the time the deletion happens by chance. It occurs when eggs or sperm form or early in pregnancy. In about 1 in 10 cases, a parent passes it down. A parent with the deletion has a 1 in 2 chance of passing it to each child.
The condition affects about 1 in 4,000 people. It may be more common, since mild cases are often missed.
How doctors diagnose it
Doctors suspect the condition from signs like heart defects, cleft palate, and low calcium. A blood test confirms the missing piece of chromosome 22. Tests such as FISH (a test that uses special dye tags to make the missing piece show up under a microscope) and comparative genomic hybridization (a test that compares a person's DNA with a normal sample to find missing pieces) can find the deletion. Doctors may also do routine chromosome testing, since it can change what the family is told about future chances.
Treatment
Care depends on which signs a person has. Doctors step in and treat each problem as it comes up. Some heart defects and cleft palates need surgery. Everyone with the condition needs vitamin D. People with low blood calcium may need stronger prescribed medicine that an endocrinologist oversees. The immune system can be weak, so a doctor checks it before any live vaccine. A team approach is generally recommended. The team may include a geneticist, pediatrician, cardiologist, immunologist, endocrinologist (hormone doctor), surgeon, speech pathologist, audiologist (hearing specialist), dentist, and psychologist. Each specialist treats or watches the part of the condition they know best.
Genetic counseling is recommended for families with an affected child. A genetic counselor, a person trained in how conditions run in families, can give recurrence risk counseling for the parents.
When to see a doctor
Call 911 or go to the emergency room for a seizure, which can be a sign of low calcium. Also call 911 for trouble breathing, bluish or grey skin, fainting, or a baby or child who is very sleepy and hard to wake or does not respond well. Babies with frequent infections or signs of a heart problem should see a doctor promptly. A child with speech or learning delays also needs evaluation.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. A team approach is often useful and generally recommended when making decisions about the treatment of symptoms.
Common questions
Is DiGeorge syndrome inherited?
It can be, but usually it is not. In most cases the missing piece of chromosome 22 happens by chance. In about 1 in 10 cases a parent passes it down. Genetic counseling helps families understand the chances.
Does everyone with DiGeorge syndrome have the same problems?
No. Signs range from mild to severe, even within one family. Some people have heart defects and learning problems. Others have much milder signs.
Why can seizures happen?
Low calcium in the blood can trigger seizures. This condition can lower blood calcium.
Can DiGeorge syndrome be cured?
No. The missing piece of chromosome 22 is present for life. Care focuses on each problem a person has, like heart defects, low calcium, and frequent infections.
Sources
- MedlinePlus - 22q11.2 deletion syndrome
- National Organization for Rare Disorders - Chromosome 22q11.2 Deletion Syndrome
- PubMed Central - Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
