DiGeorge Syndrome: Causes, Symptoms, Diagnosis, and Treatment

What Is DiGeorge Syndrome?

DiGeorge Syndrome is a multisystem disorder that primarily arises from a genetic anomaly. This condition affects an estimated 1 in 4,000 live births but may be underdiagnosed due to its diverse presentation.

Alternate Names

• 22q11.2 Deletion Syndrome

• Velocardiofacial Syndrome (VCFS)

• Conotruncal Anomaly Face Syndrome

Key Facts

• It is caused by the deletion of a segment on chromosome 22 (22q11.2).

• It can vary greatly in severity.

• Early diagnosis and intervention are crucial for managing symptoms effectively.

Causes of DiGeorge Syndrome

The primary cause of DiGeorge Syndrome is the deletion of genetic material on the 22q11.2 region of chromosome 22. This deletion typically occurs randomly during the formation of reproductive cells (egg or sperm) or in early fetal development.

Genetic Transmission

• De Novo Mutation: In approximately 90% of cases, the mutation occurs spontaneously.

• Inherited Mutation: In 10% of cases, the deletion is inherited from one parent who carries the deletion.

Symptoms of DiGeorge Syndrome

The symptoms of DiGeorge Syndrome can vary significantly from person to person. They may include physical, developmental, and medical challenges.

1. Heart Defects

• Tetralogy of Fallot

• Ventricular septal defect (VSD)

• Interrupted aortic arch

2. Immune System Problems

• Underdeveloped or absent thymus gland

• Increased risk of infections

3. Facial Features

• Small or low-set ears

• Hooded eyelids

• Cleft palate

4. Developmental Delays

• Delayed speech and motor skills

• Learning disabilities

5. Endocrine Issues

• Low calcium levels (hypocalcemia) due to parathyroid gland dysfunction

• Thyroid problems

6. Behavioral and Mental Health Concerns

• ADHD

• Anxiety disorders

• Autism spectrum disorder

How Is DiGeorge Syndrome Diagnosed?

1. Physical Examination

Doctors may identify characteristic features, such as heart murmurs or distinct facial traits.

2. Genetic Testing

The most definitive diagnostic tool is a fluorescence in situ hybridization (FISH) test or other advanced genetic tests, like chromosomal microarray analysis, to detect the 22q11.2 deletion.

3. Laboratory Tests

• Calcium Levels: To check for hypocalcemia

• Immunological Tests: To evaluate thymus function and immune status

4. Imaging Tests

• Echocardiogram for heart defects

• MRI or CT scan for structural abnormalities

Treatment and Management of DiGeorge Syndrome

While there is no cure for DiGeorge Syndrome, various treatments can manage its symptoms effectively.

1. Medical Interventions

• Heart Surgery: To correct congenital heart defects

• Calcium Supplements: To manage hypocalcemia

• Immune Support: Antibiotics and specialized care for infections

2. Developmental Therapies

• Speech Therapy

• Occupational Therapy

• Special Education Services

3. Mental Health Support

• Behavioral therapy

• Counseling or psychiatric care for anxiety or ADHD

4. Lifestyle Adjustments

• Routine health checkups

• Balanced diet and supplements

Conclusion

DiGeorge Syndrome is a complex condition that requires personalized care and continuous monitoring. With advancements in medical research and better understanding, individuals with DiGeorge Syndrome can lead fulfilling lives.

For more information and support, consult a healthcare provider or join support networks for families affected by genetic conditions.