DiGeorge Syndrome in Children and Infants Symptoms and Treatment

DiGeorge Syndrome is one of the rare genetic disorders that appear in infants and children due to a problem in chromosome 22. This condition can cause heart defects, weakened immunity, and delayed growth and speech. That’s why early detection is very important to start the right treatment. In this article from Dalili Medical, we’ll explore what DiGeorge Syndrome is, its main symptoms and causes, as well as the latest diagnostic and treatment methods that can help children live a life closer to normal.

❓ Does DiGeorge Syndrome Affect Intelligence?

It depends on the child:

Some children have a completely normal level of intelligence.
Others may show mild learning difficulties or challenges with focus and attention.

❓ Can DiGeorge Syndrome Be Prevented?

Unfortunately, there’s no 100% prevention since it’s caused by a genetic defect in chromosome 22. However, if there’s a family history, parents can undergo genetic testing before or during pregnancy to reduce the risks.

❓ When Do Symptoms of DiGeorge Syndrome Appear?

Symptoms can show up at different times:

Some cases appear immediately after birth, such as heart defects or low calcium levels.
Others appear later, after months or even years, such as speech delay or frequent infections.

❓ Does DiGeorge Syndrome Affect Feeding?

Yes. Some babies may face difficulties with breastfeeding or swallowing due to cleft palate or weak muscles. This requires follow-up with a nutritionist and a speech/swallowing therapist.

❓ Does the Child Need Lifelong Medication?

In some cases, yes:

Calcium and Vitamin D supplements.
Medications to support and strengthen immunity.
Heart medications if there are congenital defects.

❓ Are Vaccines Safe for Children with DiGeorge Syndrome?

Most vaccines are safe. However, the doctor decides based on the child’s immune system. Sometimes, live vaccines may need to be delayed or avoided.

❓ Can More Than One Child in the Family Be Affected?

Yes. If the cause is inherited from a parent, more than one child can be affected.
If it’s a new (de novo) mutation, the chances are very low.

❓ Does DiGeorge Syndrome Affect Physical Growth?

Yes. Some children may be shorter than their peers or underweight. This requires careful and ongoing nutritional monitoring.

❓ What Are the Most Common Health Issues Linked to DiGeorge Syndrome?

Congenital heart defects.
Weakened or deficient immune system.
Problems with the parathyroid gland.
Learning and speech difficulties.

❓ Is Laser Effective for Treating DiGeorge Syndrome?

Laser is not a primary treatment. However, it may be used in some cases such as cleft palate repair or certain skin problems related to the condition.

❓ Can the Syndrome Appear in Adults?

Rarely, but yes. Some adults may be diagnosed late if they had mild symptoms in childhood, like recurrent infections or learning difficulties, that went unnoticed.

❓ Can an Affected Child Have Children in the Future?

Yes. Children with DiGeorge Syndrome can grow up, marry, and have kids. However, there’s a chance of passing the gene to their children. That’s why genetic counseling before pregnancy is strongly recommended.

Stages of DiGeorge Syndrome in Infants and Children

DiGeorge Syndrome doesn’t always appear with all symptoms at once. It develops in different stages depending on severity and genetic deletion.

1. Early Stage (Birth – First Months)

Clear congenital heart defects.
Feeding or swallowing difficulties.
Poor weight gain.
Low calcium → muscle spasms or tremors.

2. Infancy (6 Months – 2 Years)

Weak immunity → recurrent infections (lungs, skin, intestines).
Slow physical and motor growth.
Speech problems due to cleft palate or weak muscles.
Persistent heart issues, sometimes requiring surgery.

3. Childhood (3 – 10 Years)

Learning difficulties, poor focus and attention.
Distinctive facial features (small chin, low-set ears, wide eyes).
Recurrent infections of varying severity.
Behavioral problems such as hyperactivity or irritability.

4. Adolescence

Psychological and behavioral issues (anxiety, depression, personality disorders).
Poor academic and social performance.
Sometimes delayed puberty or hormonal problems.

5. Early Adulthood

Ongoing issues such as weak immunity or low calcium.
Possible kidney or heart problems if untreated earlier.
Increased risk of mental health conditions like schizophrenia in some cases.

Types of DiGeorge Syndrome in Infants and Children

DiGeorge Syndrome is linked to a deletion on chromosome 22. Doctors classify cases into different types based on severity and affected organs.

1. Classic DiGeorge Syndrome

Most common type.
Symptoms: congenital heart defects, weak immunity (thymus problems), low calcium, distinctive facial features, and delayed growth.

2. Partial DiGeorge Syndrome

Thymus gland is present but underdeveloped.
Immunity is weak but not completely absent.
Higher risk of infections, but milder than classic type.

3. Complete DiGeorge Syndrome

Rarest and most severe type.
Thymus gland is completely absent → almost no T-cells.
Children are extremely vulnerable to life-threatening infections.
Requires advanced treatments like thymus or bone marrow transplantation.

4. 22q11.2 Deletion Syndrome

The most widely used medical name.
Broader symptoms beyond heart and immunity, including:
- Learning and behavioral problems.
- Speech difficulties.
- Delayed growth.
- Distinctive facial features.

Diagnosis of DiGeorge Syndrome

Diagnosing DiGeorge Syndrome depends on medical examinations and genetic testing, since symptoms vary and don’t always appear at the same time.

1. Medical History & Clinical Examination

Asking parents about: feeding problems, poor weight gain, frequent infections.
Examining facial features (small chin – low-set ears – wide eyes).
Listening to heart sounds to detect any congenital defects.

2. Laboratory Tests

Blood tests:
- Calcium levels (often low).
- Complete blood count to assess immunity.
- Immunological tests to evaluate T-cell function.

3. Imaging Tests

Echocardiogram (Echo) → to detect heart defects.
Chest X-ray → to assess thymus size (often small or absent).

4. Genetic Testing (Most Important)

FISH or Microarray test to detect deletion on chromosome 22q11.2.
Confirms the diagnosis accurately and differentiates it from similar disorders.

5. Additional Assessments

Kidney ultrasound (since the syndrome can sometimes affect the kidneys).
Hearing and speech evaluation.
Developmental and motor skill assessment.

Treatment of DiGeorge Syndrome in Infants and Children

DiGeorge Syndrome has no complete cure since it is linked to a genetic defect. However, medications and surgical interventions can significantly control symptoms and reduce complications. Treatment plans differ depending on each child’s condition and symptoms.

Medication Treatment

1. Calcium and Parathyroid-Related Medications

Calcium supplements: to correct deficiency.
Vitamin D: to improve calcium absorption.
In severe cases: medications to regulate parathyroid hormone levels.

2. Immune System Support

Prophylactic antibiotics: to prevent recurrent infections.
Antivirals or antifungals: for severe infections.
In very severe immune deficiency: Intravenous Immunoglobulin (IVIG) therapy.

3. Heart-Related Medications

Drugs to regulate heart rhythm.
Heart failure medications (before or after surgery).

4. Neurological and Behavioral Medications

For intellectual delay or autism-like symptoms:
- Medications to improve focus and attention.
- Drugs to reduce hyperactivity or anxiety.

5. Other Medications (Depending on Case)

Mild painkillers or stomach medications (for reflux).
Anti-seizure drugs if the child suffers from epilepsy.

Surgical & Laser Treatment

1. Surgery

A. Heart Surgery

Most children have congenital heart defects (such as ventricular septal defect or vessel abnormalities).
Surgical intervention is often necessary to repair defects and improve blood flow.
Usually performed within the first few months of life, depending on severity.

B. Cleft Palate Repair Surgery

Some children have a cleft palate.
Surgery helps improve speech and swallowing.

C. Thymus or Bone Marrow Transplant

For severe immune deficiency cases.
Thymus transplantation or bone marrow transplant may help restore immune function.

2. Laser Therapy

Laser can be used in specific cases such as:

Treating skin problems.
Correcting superficial blood vessels.
Supporting cleft palate repair to enhance tissue healing.
Improving skin appearance or removing abnormal blood vessels.

3. Post-Surgery Care

Continuous follow-up with a multidisciplinary medical team (cardiology – immunology – endocrinology – pediatrics).
Physiotherapy and nutritional support after surgery.
Regular monitoring of physical and mental development.

Coping with DiGeorge Syndrome in Infants and Children

Since DiGeorge Syndrome is a genetic condition, children require lifelong follow-up and multidisciplinary care. The goal is not only to treat symptoms, but also to improve quality of life and help the child grow and develop as normally as possible.

1️⃣ Regular Medical Care

Continuous follow-up with a pediatric cardiologist for heart defects.
Regular immunology check-ups to monitor immune strength.
Monitoring calcium and parathyroid hormone levels.
ENT specialist consultation for hearing and cleft palate issues.

2️⃣ Symptom & Complication Management

Heart problems: may need surgery or catheterization.
Weak immunity: antibiotics or special vaccination schedules.
Low calcium: treated with calcium and vitamin D.
Growth problems: speech therapy, physiotherapy, and behavioral support are essential.

3️⃣ Proper Nutrition

Nutritionist support, especially if swallowing difficulties or cleft palate are present.
Providing meals rich in calcium, protein, and vitamins.
In some cases, temporary feeding tubes may be needed to support growth.

4️⃣ Psychological & Educational Support

Psychological and behavioral therapy for communication difficulties or autism-like symptoms.
Special education programs for children with learning delays.
Family counseling to help parents cope with daily challenges.

5️⃣ Long-Term Follow-Up

Children need lifelong monitoring with specialists.
Regular check-ups help detect complications early.
Treatment and care plans are tailored individually for each child.

✅ Parental Advice
Caring for a child with DiGeorge Syndrome is a long journey that requires patience, emotional support, and careful medical follow-up. With strong family support and medical care, children can overcome challenges and live a better life.