DiGeorge Syndrome
Definition:
DiGeorge Syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder caused by the deletion of a small piece of chromosome 22. This condition affects many body systems and can lead to a wide range of physical, developmental, and psychological symptoms.
Causes:
Chromosome 22 Deletion:
DiGeorge Syndrome is primarily caused by a missing segment of chromosome 22, specifically in the q11.2 region. This deletion occurs sporadically in most cases, although it can be inherited from an affected parent.
Symptoms:
Physical Symptoms:
- Distinct facial features, such as a small chin, wide-set eyes, and low-set ears
- Heart abnormalities, including congenital heart defects
- Cleft palate
- Thymus gland underdevelopment or absence, leading to compromised immune system
- Hypoparathyroidism
Developmental Symptoms:
- Delayed or impaired growth
- Learning difficulties and intellectual disabilities
- Speech and language delays
Psychological Symptoms:
- Anxiety disorders
- Social and behavioral problems
- Schizophrenia or other psychotic disorders
Treatment:
Medical Management:
Treatment for DiGeorge Syndrome focuses on managing individual symptoms and underlying conditions. This may include surgeries for heart defects, hormone replacement therapies, thymus transplantation, and medications to address psychological symptoms.
Early Intervention and Support:
Children with DiGeorge Syndrome benefit from early intervention programs, including speech therapy, physical therapy, and special education services. Ongoing support from healthcare professionals, educators, and community resources is crucial for managing the condition and promoting overall well-being.