DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder caused by a missing small part of chromosome 22, which can result in a wide range of health problems. These can include heart defects, a weakened immune system, developmental delays, and specific facial features.
Understanding DiGeorge Syndrome
DiGeorge syndrome is more accurately described as 22q11.2 deletion syndrome because the root cause is a deletion on the 22nd chromosome at location q11.2. This missing piece of genetic material affects the development of several body systems. The severity and specific symptoms of DiGeorge syndrome vary significantly from person to person.
Key Characteristics of DiGeorge Syndrome
While the presentation of DiGeorge syndrome can vary, several key characteristics are often observed:
- Heart Defects: Many individuals with DiGeorge syndrome are born with congenital heart defects.
- Immune System Problems: The thymus gland, which plays a critical role in immune system development, may be underdeveloped or absent, leading to frequent infections.
- Developmental Delays: These may include delays in speech, motor skills, and learning.
- Characteristic Facial Features: Subtle differences in facial features are often present, such as a small jaw, wide-set eyes, and low-set ears.
- Hypocalcemia: Low levels of calcium in the blood can cause seizures, muscle spasms, and other health issues.
Diagnosis and Management
Diagnosis of DiGeorge syndrome typically involves genetic testing to confirm the 22q11.2 deletion. Management focuses on addressing the specific health problems that arise, which may include:
- Surgical repair for heart defects
- Immunoglobulin therapy to boost the immune system
- Calcium supplementation to manage hypocalcemia
- Early intervention services to address developmental delays
- Regular monitoring by a team of specialists
DiGeorge syndrome is a complex genetic condition that can affect multiple aspects of health and development. Early diagnosis and comprehensive management are crucial for improving the long-term outcomes for individuals with this syndrome.
