Overview
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a rare genetic disorder caused by the deletion of a small segment of chromosome 22. This missing genetic material leads to a wide range of developmental abnormalities affecting multiple organ systems. Let’s delve into the details of this complex condition.
Types of DiGeorge syndrome
- lassic DiGeorge Syndrome: The classic triad of features includes:
- Conotruncal Cardiac Anomalies: Abnormalities in the heart’s outflow tract, such as tetralogy of Fallot or interrupted aortic arch.
- Hypoplastic Thymus: Underdeveloped thymus gland, leading to immune system dysfunction.
- Hypocalcemia: Resulting from parathyroid hypoplasia.
- Velocardiofacial Syndrome (VCFS): A related disorder with overlapping features, including cleft palate, facial anomalies, and learning difficulties.
Causes of DiGeorge syndrome
- Chromosomal Deletion: Most cases result from a heterozygous deletion at the 22q11.2 locus.
- Inheritance: In some instances, the deletion can be inherited from an affected parent.
Risk Factors of DiGeorge syndrome
- Advanced Maternal Age: Older mothers have a slightly increased risk of having a child with DiGeorge syndrome.
- Family History: If a parent carries the 22q11.2 deletion, there’s a chance of passing it on to their offspring.
Symptoms of DiGeorge syndrome
The severity and combination of symptoms can vary significantly. Common features include:Preventions of DiGeorge syndrome
Preventive measures are limited due to the genetic nature of the syndrome. Early diagnosis and management are crucial. Parents with a family history of DiGeorge syndrome should seek genetic counseling before planning a pregnancy.
Diagnosis of DiGeorge syndrome
Diagnosis involves genetic studies (FISH and aCGH), T-cell count assessment, blood tests (CBC), imaging (MRI and CT scan), and echocardiography. Evaluation includes assessing developmental deformities.
Treatment for DiGeorge syndrome
Treatment is tailored to individual needs and may include:
- Medication: Antibiotics (prophylaxis), calcium supplements, and vitamin D.
- Procedures: Bone marrow transplantation, cleft palate repair, and cardiac surgery.
- Therapy: Speech and language therapy, psychotherapy for behavioral issues.
When to seek medical attention ?
If your child exhibits symptoms listed above, seek medical attention promptly. Early intervention improves outcomes.
