DiGeorge Syndrome: A Comprehensive Guide to Causes, Symptoms, and Treatment

What is DiGeorge Syndrome?

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic condition that happens when a small part of chromosome 22 is missing. This missing piece affects how different systems in your body develop, such as your heart, immune system, and facial features. 

The effects can vary greatly from person to person, ranging from very mild to more noticeable challenges. Understanding the condition is the first step to managing it effectively. With the right care and support, many people with DiGeorge syndrome lead healthy and fulfilling lives.

Who Does DiGeorge Syndrome Affect?

DiGeorge syndrome can affect anyone, regardless of background. It’s most often caused by a random change in your genes, which happens early during development, and is not due to anything a parent has done. In about 10% of cases, it can be inherited from a parent who also carries the deletion. 

Around 1 in 4,000 people are diagnosed with this condition, but experts believe it may be more common and underdiagnosed. You or your child may show signs at birth, during early childhood, or sometimes even later in life.

Symptoms of DiGeorge Syndrome

The symptoms of DiGeorge syndrome can vary widely, depending on which parts of the body are affected. Some signs may be present from birth, while others may appear later. The following are common symptom categories:

Heart Symptoms

Heart-related issues are some of the earliest and most serious signs of DiGeorge syndrome.

• Tetralogy of Fallot involves four heart defects that affect blood flow and oxygen levels.
• Truncus arteriosus is a condition where a single large blood vessel comes out of the heart instead of two separate ones.
• Ventricular septal defects are holes between the heart's lower chambers, which can cause poor circulation.

These conditions may lead to bluish skin or difficulty breathing in babies.

Also Read: Genetic Diseases: Symptoms, Main Causes, Types And Treatment

Symptoms That Affect Your Brain

Brain development may also be impacted, leading to emotional and behavioural challenges.

• Developmental delays, especially in speech, learning, and motor skills, are common.
• Autism spectrum disorder, ADHD, and anxiety may affect day-to-day life.
• Seizures or neurological concerns may also appear in some cases.
• These symptoms vary from person to person and may need specialised care and therapies.

Immune System Symptoms

The immune system may not function properly, making you more vulnerable to infections.

• A small or missing thymus gland leads to reduced T-cell production.
• Frequent infections, such as colds or chest infections, are common in early years.
• Some children may develop autoimmune disorders, where the immune system mistakenly attacks healthy cells.

Physical And Body System Symptoms

Physical symptoms can involve several body systems and may be noticeable early in life.

• Hearing problems may occur due to frequent ear infections or inner ear differences.
• Scoliosis (curved spine) and kidney issues may also be present.
• Feeding difficulties during infancy may lead to poor weight gain.
• Problems with the endocrine system may cause low calcium levels and hormone imbalances.

Facial Features

Some facial characteristics are commonly seen in DiGeorge syndrome, though they can be subtle.

• Hooded eyelids, flat cheeks, and a bulbous nose may be present.
• Ears with attached lobes or slightly unusual shapes are also noted.
• An underdeveloped chin and cleft lip or palate might be seen at birth.
• These features vary and don’t always affect function.

What Causes DiGeorge Syndrome?

DiGeorge syndrome is caused by a missing part of chromosome 22, specifically in a region known as 22q11.2. This small deletion includes many genes responsible for guiding how your body develops before birth. This is why different parts of your body may be affected.

• DiGeorge syndrome catch-22 refers to the irony of numerous critical body systems being affected by a single small genetic deletion
• In about 90% of cases, the deletion happens randomly during conception and is not inherited.
• Approximately 10% of cases are inherited from a parent who may or may not exhibit symptoms due to variable expression.
• The deletion affects genes that control how your heart, brain, immune system, and facial features form and function.

Complications

While many people live well with DiGeorge syndrome, there are some complications to be aware of. These usually relate to how the condition affects body systems during development.

• Heart complications can lead to reduced oxygen in the blood, requiring surgery or ongoing care.
• Hypocalcaemia (low calcium) may result in muscle cramps, twitching, or seizures if untreated.
• Thymus gland issues can lead to a weakened immune system and frequent or serious infections.
• Cleft palate or feeding issues may cause difficulty with swallowing or speech.
• Learning disabilities or mental health conditions like depression or anxiety may appear in later childhood or adolescence.
• Some may develop autoimmune diseases, such as rheumatoid arthritis or Graves’ disease.

Diagnosis

Getting an accurate diagnosis is important to help guide the right care and support. Your healthcare provider may notice signs soon after birth or during early childhood.

• Physical examination may reveal facial features or heart murmurs suggestive of the condition.
• Blood tests can detect low calcium levels or immune cell counts.
• Genetic testing confirms the diagnosis by checking for the 22q11.2 deletion.
• Imaging tests such as echocardiograms or CT scans may be done to check heart and organ structure.
• If there’s a family history, prenatal screening through ultrasound or amniocentesis may help detect chromosomal deletions or physical signs before birth.
• Early diagnosis helps in starting treatments quickly to manage any immediate concerns.

Treatment

There is currently no cure, but DiGeorge Syndrome treatment focuses on managing symptoms and improving quality of life. With the right care, many people go on to live happy and active lives.

• Heart defects may require surgery or monitoring by a specialist, especially in early life.
• Low calcium levels are usually treated with supplements and dietary changes to prevent complications.
• If infections are frequent, antibiotics or immune-boosting therapies may be given.
• Hormone treatments may be needed if there are endocrine imbalances.
• Speech and occupational therapy can help children with delays in development or learning.
• Special education services may support your child in school and improve confidence and skills.
• Mental health support, such as counselling or medication, may help with anxiety, ADHD, or depression.
• In some cases, surgery may be required to repair a cleft palate or address structural problems with kidneys or other organs.
• A coordinated care team, including specialists in genetics, cardiology, immunology, and psychology, ensures all aspects of DiGeorge Syndrome treatment are addressed.

Conclusion

Living with DiGeorge syndrome may seem challenging at first, but with the right care, you or your loved one can lead a healthy, fulfilling life. Early diagnosis and proper support make a significant difference. Regular checkups, therapies, and understanding your unique needs are key parts of effective DiGeorge syndrome treatment. 

For trusted diagnostics and genetic testing, consider Metropolis Healthcare, known for its accurate reports and expert pathology support across a wide range of health conditions.

FAQs

What can I expect if I have DiGeorge syndrome?

You may experience varied symptoms, but with treatment, many lead healthy lives and manage the condition well.

How common is DiGeorge syndrome?

It affects around 1 in 4,000 people, though it may be underdiagnosed due to its wide range of symptoms.

What is the triad of DiGeorge syndrome?

The classic triad includes heart defects, immune system problems, and low calcium due to parathyroid gland underdevelopment.

Is DiGeorge syndrome autism?

No, but some people with DiGeorge syndrome may also have autism spectrum disorder or related developmental challenges.