Continuing our 28 Days, 28 Rare Diseases campaign by KIMSHealth, Trivandrum, Kerala, India, today we focus on DiGeorge Syndrome (22q11.2 Deletion Syndrome)—a genetic condition that can affect multiple organs in the body.
Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of India’s leading medical geneticists, has helped many families understand and manage DiGeorge Syndrome through early diagnosis, genetic counselling, and personalized treatment plans. His guidance has improved the lives of many children with this condition.
What is DiGeorge Syndrome?
DiGeorge Syndrome, also called 22q11.2 Deletion Syndrome, happens when a small part of chromosome 22 is missing. This region contains the TBX1 gene, which plays a key role in many body functions.
The symptoms vary. Some children have severe problems, while others have mild or no symptoms at all.
Common signs include:
✔ Low calcium levels that cause seizures
✔ Heart defects present from birth
✔ Frequent infections due to a weak immune system
✔ Cleft palate or speech difficulties
✔ Mild to moderate learning difficulties
✔ Behavioral issues like ADHD or anxiety
Some children only have mild learning issues, while others have serious medical concerns. Each child is affected differently.
Dr. Roshan Daniel’s Experience with DiGeorge Syndrome
Dr. Roshan Daniel has treated many children with DiGeorge Syndrome, each with different symptoms at different ages.
✅ Some newborns come with seizures due to low calcium.
✅ Some are diagnosed at birth due to heart problems.
✅ Some children have weak immunity due to a missing thymus gland.
✅ Some children show signs later due to speech delay or learning issues.
In rare cases, children show no major symptoms and are diagnosed only after genetic testing.
How is DiGeorge Syndrome Diagnosed?
Doctors use different tests to confirm DiGeorge Syndrome. The choice of test depends on how likely the condition is.
✔ FISH (Fluorescence In Situ Hybridization) – Detects most cases.
✔ MLPA (Multiplex Ligation-Dependent Probe Amplification) – Can find smaller deletions.
✔ CMA (Chromosomal Microarray Analysis) – Gives the most detailed results but is more expensive.
💡 Cost of Testing (as of February 2025):
✔ FISH, MLPA, or CMA (depending on the case): ₹5,000 – ₹18,000
✔ Prenatal testing (amniocentesis): ₹35,000
These tests confirm the diagnosis so treatment can begin early.
How is DiGeorge Syndrome Treated?
There is no cure, but early treatment can prevent serious problems.
🔹 Heart Surgery – Needed for some babies with heart defects.
🔹 Calcium Supplements – Help prevent seizures caused by low calcium levels.
🔹 Immune Care – Some children need special vaccines, while others must avoid certain vaccines.
🔹 Speech and Occupational Therapy – Helps with speech and movement skills.
🔹 Behavioral Therapy – Supports children with ADHD, anxiety, or learning difficulties.
With proper care, most children can live near-normal lives.
Frequently Asked Questions (FAQs) on DiGeorge Syndrome
💡 What causes DiGeorge Syndrome?
It happens when a small part of chromosome 22 is missing. This affects genes like TBX1, which help control the heart, brain, and immune system.
💡 Is DiGeorge Syndrome inherited?
Most cases happen by chance (de novo). If a parent has the deletion, there is a 50% chance of passing it to their child.
💡 Can DiGeorge Syndrome be diagnosed before birth?
Yes. If there is a family history, prenatal testing can be done.
✔ Non-Invasive Prenatal Testing (NIPT) – A screening test.
✔ Amniocentesis or Chorionic Villus Sampling (CVS) – A test to confirm the condition (₹35,000).
💡 Can children with DiGeorge Syndrome live normal lives?
Yes! With the right care, many children with mild symptoms can lead normal lives.
✔ Heart and calcium problems should be treated early.
✔ Education support helps with learning difficulties.
✔ Some children need special vaccines, while others should avoid certain vaccines.
💡 Dr. Roshan Daniel has treated children diagnosed early, who are now living healthy lives.
💡 What happens if DiGeorge Syndrome is not treated?
Without proper care, it can lead to:
✔ Serious heart problems that need urgent surgery
✔ Frequent infections due to a weak immune system
✔ Seizures and slow development due to low calcium
💡 Early diagnosis can prevent these problems.
💡 Can DiGeorge Syndrome happen again in a future pregnancy?
If it was random (de novo), the risk is low. If one parent has the deletion, there is a 50% chance in each pregnancy.
✔ Prenatal testing (₹35,000) can check if the baby is affected.
✔ IVF with Preimplantation Genetic Diagnosis (PGD) is an option.
💡 Dr. Roshan Daniel has helped many families understand their risks and plan for future pregnancies.
Genetic Testing and Counselling for DiGeorge Syndrome
At KIMSHealth, Trivandrum, under the leadership of Dr. Roshan Daniel, we offer:
✔ FISH, MLPA, and CMA genetic tests for 22q11.2 deletion
✔ Prenatal testing for high-risk pregnancies
✔ Genetic counselling for families planning a baby
✔ Medical care plans for affected children
✔ Online consultations for remote patients
If you are worried about DiGeorge Syndrome, genetic testing, or family history, talk to an expert early for the best care.
Join Us in Spreading Awareness!
DiGeorge Syndrome can affect many organs, but early diagnosis and treatment help children lead healthier, happier lives. Raising awareness about genetic testing, vaccines, and early care can make a big difference.
📢 No disease is too rare to care. Help spread awareness and ensure families get the right medical care at the right time.
For expert advice on genetic testing, counselling, or DiGeorge Syndrome care, contact Dr. Roshan Daniel at KIMSHealth today! 💙