DiGeorge Syndrome (22q11.2 Deletion Syndrome)
What is DiGeorge Syndrome (22q11.2 Deletion Syndrome)?
DiGeorge Syndrome is a genetic condition that happens when a small piece of chromosome 22 is missing. This missing piece affects how the body develops before birth. The condition impacts multiple organ systems including the heart, immune system, and parathyroid glands.
The parathyroid glands are tiny organs in your neck that control calcium levels in your blood. Many people with DiGeorge Syndrome have underdeveloped or missing parathyroid glands. This leads to low calcium levels, which can cause serious health problems if not caught early. The condition affects about 1 in 4,000 babies born each year.
DiGeorge Syndrome looks different in every person who has it. Some people have mild symptoms and live relatively normal lives. Others need ongoing medical care throughout their lifetime. Early detection and monitoring help people with this condition manage their health more effectively.
Symptoms
- Low calcium levels causing muscle spasms or seizures in newborns
- Heart defects present at birth
- Frequent infections due to weakened immune system
- Cleft palate or feeding difficulties in infancy
- Delayed speech and language development
- Learning disabilities or developmental delays
- Distinct facial features including small ears or narrow eyes
- Kidney problems or abnormalities
- Hearing loss
- Behavioral or mental health challenges
Symptoms vary widely from person to person. Some children show clear signs at birth, while others have milder symptoms that emerge over time. Early diagnosis allows families to work with medical teams to address problems as they arise.
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Causes and risk factors
DiGeorge Syndrome is caused by a deletion, or missing piece, of genetic material on chromosome 22. This deletion happens randomly during early fetal development in most cases. About 90% of people with DiGeorge Syndrome are the first in their family to have the condition. The remaining 10% inherit the deletion from a parent who also has the condition.
There are no known lifestyle or environmental risk factors that cause this genetic deletion. It is not caused by anything a parent did or did not do during pregnancy. The deletion occurs by chance during the formation of eggs, sperm, or early in fetal development. People with DiGeorge Syndrome have a 50% chance of passing the condition to each of their children.
How it's diagnosed
DiGeorge Syndrome is diagnosed through genetic testing that looks for the missing piece of chromosome 22. Doctors often suspect the condition based on physical features, heart problems, or low calcium levels in newborns. Blood tests play an important role in identifying and managing the parathyroid problems that often come with DiGeorge Syndrome.
Parathyroid hormone testing helps doctors confirm whether the parathyroid glands are working properly. Low PTH levels combined with low calcium suggest parathyroid insufficiency, which is common in DiGeorge Syndrome. Rite Aid offers PTH testing as an add-on to help monitor parathyroid function in people with this condition. Regular monitoring helps catch calcium imbalances before they cause serious symptoms.
Treatment options
- Calcium and vitamin D supplements to prevent low calcium levels
- Regular monitoring of calcium and PTH levels through blood tests
- Heart surgery to repair congenital heart defects when needed
- Speech therapy and developmental support for delays
- Special education services tailored to learning needs
- Antibiotics or preventive medications for frequent infections
- Immunoglobulin therapy to support weakened immune system
- Mental health support for behavioral challenges
- Coordination with multiple specialists throughout life
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- Simple blood draw at your nearest lab
- Results in days, not weeks
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Frequently asked questions
DiGeorge Syndrome is a genetic condition caused by a missing piece of chromosome 22. It affects multiple body systems including the heart, immune system, and parathyroid glands. About 1 in 4,000 babies are born with this condition each year.
The most common symptoms include heart defects, low calcium levels, frequent infections, and developmental delays. Many children have distinct facial features and learning disabilities. Symptoms vary widely, with some people having mild effects and others needing ongoing medical care.
Doctors diagnose DiGeorge Syndrome through genetic testing that detects the missing piece of chromosome 22. They often suspect it based on heart problems, low calcium in newborns, or characteristic physical features. Blood tests for parathyroid hormone and calcium help confirm parathyroid involvement.
Many people with DiGeorge Syndrome have underdeveloped or missing parathyroid glands. These small glands control calcium levels in the blood. Without properly functioning parathyroid glands, calcium levels drop and can cause muscle spasms, seizures, or other serious problems.
There is no cure for DiGeorge Syndrome because it is a genetic condition. However, many symptoms can be managed effectively with medical treatment. Calcium supplements, heart surgery, immune support, and developmental therapies help people with this condition live healthier lives.
About 90% of DiGeorge Syndrome cases happen randomly with no family history. The remaining 10% are inherited from a parent who has the condition. People with DiGeorge Syndrome have a 50% chance of passing it to each of their children.
Parathyroid hormone and calcium tests are the most important blood tests for monitoring DiGeorge Syndrome. These tests check whether the parathyroid glands are working properly. Regular monitoring helps prevent dangerous drops in calcium levels.
Testing frequency depends on symptom severity and calcium stability. Newborns and young children often need frequent monitoring, sometimes monthly or quarterly. Adults with stable calcium levels may only need testing once or twice per year.
Calcium and vitamin D supplements are the main treatments for low calcium levels. Some people need prescription calcitriol, an active form of vitamin D. Regular blood tests help doctors adjust supplement doses to keep calcium in a safe range.
Many adults with DiGeorge Syndrome live independent and fulfilling lives. Success depends on symptom severity and access to proper medical care. Regular monitoring, appropriate medications, and support services help people with this condition reach their full potential.