DiGeorge syndrome is a genetic disorder caused by a microdeletion on the long arm of chromosome 22. This syndrome leads to various physical and developmental anomalies affecting the immune system, heart, kidneys, and facial development. DiGeorge syndrome is also known by different names such as conotruncal anomaly face syndrome (CATCH-22), 22q11.2 deletion syndrome, and Velocardiofacial syndrome (VCFS).
What Are the Causes of DiGeorge Syndrome?
The main cause of DiGeorge syndrome is a microdeletion on the long arm of chromosome 22 (22q11.2). This genetic disorder leads to the loss of specific genes, causing various physical and developmental anomalies. Here are the causes of DiGeorge syndrome:
22q11.2 Microdeletion: The main cause of DiGeorge syndrome is a microdeletion occurring in the 11.2 region of the long arm of chromosome 22.
Genetic Mutations: This deletion affects important genes such as TBX1, leading to developmental disorders.
Sporadic and Inherited Cases: The microdeletion often occurs sporadically but can be inherited from parents in some cases.
What Are the Symptoms of DiGeorge Syndrome?
The symptoms of DiGeorge syndrome can vary widely depending on the loss of genes in the 22q11.2 region:
- heart defects
- immune system disorders
- hypocalcemia
- cleft palate
- facial abnormalities
- developmental delay
- learning difficulties
- kidney anomalies
- speech and language disorders
- behavioral and psychiatric disorders
How Is DiGeorge Syndrome Diagnosed?
Diagnosing DiGeorge syndrome involves various methods:
Clinical Evaluation: Physical examination and assessment of the patient’s medical history. Characteristic facial features, heart defects, and other symptoms are considered.
Genetic Tests: FISH (Fluorescent In Situ Hybridization) test or microarray analysis detects the 22q11.2 microdeletion. These tests confirm the genetic cause of the syndrome.
Heart Tests: Echocardiogram or cardiac catheterization evaluates heart defects. These tests are used to identify structural problems in the heart.
Blood Tests: Measure calcium, parathyroid hormone levels, and immune system cell counts. These tests detect hypocalcemia and immune system disorders.
Imaging Techniques: X-rays, ultrasound, and MRI examine organ anomalies. These methods can detect kidney anomalies and other internal organ issues.
How Is DiGeorge Syndrome Treated?
Treatment for DiGeorge syndrome aims to alleviate symptoms and improve quality of life:
Heart Surgery: Surgical intervention corrects congenital heart defects.
Calcium Supplements: Calcium and vitamin D supplements treat hypocalcemia.
Immune System Treatment: Thymus transplant or hematopoietic stem cell transplant may be necessary for patients with severe immune deficiencies.
Developmental and Educational Support: Special education programs and therapy services are provided. These supports help alleviate developmental delays and learning difficulties.
Speech Therapy: Therapy addresses speech and language disorders.
Psychiatric Treatment: Appropriate treatments and therapy address behavioral and psychiatric disorders.
Surgical Intervention: Surgical intervention may be necessary to correct cleft palate and other facial anomalies.
How Should DiGeorge Syndrome Be Managed?
Managing DiGeorge syndrome requires a multidisciplinary approach to improve patients’ quality of life and prevent complications:
Multidisciplinary Approach: Collaboration among cardiologists, endocrinologists, immunologists, genetic counselors, and other specialists is necessary to create a treatment and management plan.
Regular Medical Follow-Up: Patients need regular check-ups and monitoring of their development. This ensures early diagnosis and treatment of potential complications.
Education and Counseling: Families and patients should receive genetic counseling and educational services. Genetic counseling helps families understand the inheritance and risks of the disease.
Psychosocial Support: It is important for patients and their families to receive psychosocial support. These supports provide morale and motivation in coping with the disease.
Nutrition and Diet: Appropriate diet and nutrition plans manage hypocalcemia and other metabolic issues. Calcium and vitamin D supplements are important to balance calcium levels.