DiGeorge Syndrome Overview and Diagnosis
DiGeorge syndrome is a genetic disorder that affects development of the heart, immune system, and other organs. Learn about its causes, key symptoms, and methods of diagnosis for early care.
Living with or caring for someone with a rare genetic condition can be overwhelming. If you or a loved one has been diagnosed with DiGeorge Syndrome (DGS), or if you suspect it might be the cause of certain health issues, this guide is here to help. We’ll explain what DiGeorge Syndrome is, its symptoms, causes, and how it’s diagnosed—all in simple, easy-to-understand terms.
What is DiGeorge Syndrome?
DiGeorge Syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder caused by a missing piece of chromosome 22. This small deletion affects the development of several body systems, leading to a wide range of health problems.
The condition is present from birth, but symptoms can vary greatly from person to person. Some children may have mild issues, while others may face more serious challenges.
Common Names for DiGeorge Syndrome
• 22q11.2 deletion syndrome (the most accurate medical term)
• Velocardiofacial syndrome (VCFS)
• Shprintzen syndrome
What Causes DiGeorge Syndrome?
DiGeorge Syndrome is not caused by anything a parent did or didn’t do—it happens randomly when a small part of chromosome 22 is missing during early development. In most cases, it is not inherited, but a person with DGS has a 50% chance of passing it on to their children.
Signs and Symptoms of DiGeorge Syndrome
Because the missing chromosome piece affects multiple body systems, symptoms can vary widely. Some common signs include:
1. Physical Features
• Cleft palate (a gap in the roof of the mouth)
• Heart defects (such as a hole in the heart or abnormal blood vessels)
• Facial differences (a long face, small ears, or a narrow mouth)
• Low calcium levels (due to underdeveloped parathyroid glands)
2. Immune System Problems
• Frequent infections (due to a weak immune system)
• Autoimmune disorders (where the body attacks itself)
3. Developmental and Learning Challenges
• Delayed speech and language development
• Learning difficulties (especially in math and problem-solving)
• Behavioral issues (ADHD, anxiety, or autism-like symptoms)
4. Other Possible Symptoms
• Feeding difficulties (especially in babies)
• Kidney problems
• Hearing or vision issues
How is DiGeorge Syndrome Diagnosed?
Since symptoms vary, diagnosing DiGeorge Syndrome can be tricky. Doctors use a combination of physical exams, medical history, and genetic testing.
1. Physical Examination
A doctor may notice:
• Heart defects
• Cleft palate
• Facial differences
• Low calcium levels
2. Genetic Testing (Key for Diagnosis)
The most definitive test is a fluorescence in situ hybridization (FISH) test or a chromosomal microarray (CMA), which detects the missing part of chromosome 22.
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3. Other Tests
Depending on symptoms, additional tests may include:
• Echocardiogram (to check heart defects)
• Blood tests (for calcium and immune function)
• Developmental assessments (for speech and learning delays)
How Does DiGeorge Syndrome Affect Health?
Because DGS affects multiple systems, ongoing medical care is often needed. Some common health concerns include:
• Heart problems (may require surgery)
• Low calcium levels (can cause seizures if untreated)
• Speech and learning delays (early therapy helps)
• Mental health challenges (anxiety, ADHD, or schizophrenia in some adults)
Managing DiGeorge Syndrome
While there’s no cure for DiGeorge Syndrome, early diagnosis and treatment can greatly improve quality of life. Here’s how it can be managed:
1. Medical Care
• Heart specialists (cardiologists) – For heart defects
• Immunologists – For immune system issues
• Endocrinologists – For calcium and hormone imbalances
• Speech and occupational therapists – For developmental delays
2. Lifestyle and Diet Tips
• Calcium and vitamin D supplements (if levels are low)
• Balanced nutrition (to support growth and immunity)
• Regular check-ups (to monitor health changes)
3. Emotional and Educational Support
• Early intervention programs (for speech and learning delays)
• Behavioural therapy (for ADHD or anxiety)
• Support groups (for families and patients)
When to See a Doctor?
If your child has:
• Frequent infections
• Feeding or growth problems
• Heart defects or unusual facial features
• Developmental delays
…it’s important to consult a doctor. Genetic testing can confirm DiGeorge Syndrome and help create a treatment plan.
How Apollo24|7 Can Help?
If you suspect DiGeorge Syndrome or need genetic testing, Apollo24|7 offers:
• Expert genetic counseling
• Advanced diagnostic tests (FISH, CMA)
• Specialist consultations (cardiologists, immunologists, etc.)
You can easily book a consultation or schedule a test through Apollo24|7’s app or website.
Conclusion
DiGeorge Syndrome is a lifelong condition, but with the right care, individuals can lead fulfilling lives. Early diagnosis and a strong support system make a big difference. If you have concerns, don’t hesitate to reach out to a healthcare provider for guidance.
Remember, you’re not alone—many families navigate this journey successfully with the right medical and emotional support.
Consult Top Specialists
Consult Top Specialists
Dr. Sujay P R
General Physician/ Internal Medicine Specialist
3 Years • MBBS
Bengaluru
PRESTIGE SHANTHINIKETAN - SOCIETY CLINIC, Bengaluru
Dr. Santanu Mandal
General Physician/ Internal Medicine Specialist
17 Years • MD (Physician), DNB (General Medicine)
Kolkata
MCR SUPER SPECIALITY POLY CLINIC & PATHOLOGY, Kolkata
(25+ Patients)
Dr. Mijanur Rahaman Mondal
General Practitioner
3 Years • MBBS
Kolkata
Dr Utsa Basu Clinic, Kolkata
(25+ Patients)
Dr. Pramodh Krishnamurthy
General Physician/ Internal Medicine Specialist
19 Years • MBBS
Bengaluru
Apollo Clinic, Sarjapur Road, Bengaluru
Dr. Impana G N
Physician/ Internal Medicine/ Covid Consult
11 Years • MBBS,DNB FAMILY MEDICINE, MNAMS ,CCEBDM
Mysuru
Apollo BGS Hospital Adichuchanagiri Road, Mysuru
Consult Top Specialists
Dr. Sujay P R
General Physician/ Internal Medicine Specialist
3 Years • MBBS
Bengaluru
PRESTIGE SHANTHINIKETAN - SOCIETY CLINIC, Bengaluru
Dr. Santanu Mandal
General Physician/ Internal Medicine Specialist
17 Years • MD (Physician), DNB (General Medicine)
Kolkata
MCR SUPER SPECIALITY POLY CLINIC & PATHOLOGY, Kolkata
(25+ Patients)
Dr. Mijanur Rahaman Mondal
General Practitioner
3 Years • MBBS
Kolkata
Dr Utsa Basu Clinic, Kolkata
(25+ Patients)
Dr. Pramodh Krishnamurthy
General Physician/ Internal Medicine Specialist
19 Years • MBBS
Bengaluru
Apollo Clinic, Sarjapur Road, Bengaluru
Dr. Impana G N
Physician/ Internal Medicine/ Covid Consult
11 Years • MBBS,DNB FAMILY MEDICINE, MNAMS ,CCEBDM
Mysuru
Apollo BGS Hospital Adichuchanagiri Road, Mysuru
