What is DiGeorge Syndrome (22q11.2 Deletion Syndrome)?

 

DiGeorge syndrome is a genetic disorder caused by a small missing piece of chromosome 22, specifically at the 22q11.2 region. This deletion can affect many systems in the body, leading to a wide range of physical, developmental, and mental health challenges.

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Key Features and Symptoms

🫀 Heart Defects

• Many babies with DiGeorge syndrome are born with congenital heart defects.

• These may include problems with the structure of the heart or the major blood vessels.

🛡️ Immune System Problems

• The thymus gland, which helps develop the immune system, may be underdeveloped or missing.

• This can lead to frequent infections and a weaker immune response.

😊 Facial Characteristics

• Distinctive features may include:

  • Small chin

  • Hooded eyelids

  • Ears that are rotated or set lower than usual

⚠️ Other Possible Symptoms

• Low calcium levels (hypocalcemia), which can cause muscle cramps or seizures

• Cleft palate or other issues with the roof of the mouth

• Feeding and speech difficulties

• Developmental delays and learning disabilities

• Mental health concerns, such as anxiety, ADHD, or schizophrenia (which may appear in adolescence or adulthood)

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Causes and Diagnosis

• DiGeorge syndrome is caused by a microdeletion on chromosome 22 at the 22q11.2 location.

• It usually happens randomly, but in some cases, it can be inherited from a parent.

• Diagnosis is confirmed by genetic testing, often using a blood sample.

• It may be suspected:

  • Before birth, if heart or facial differences are seen on ultrasound

  • After birth, based on symptoms and medical history

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Treatment and Management

There is no cure, but many symptoms can be treated or managed with a personalized care plan. This may include:

• 🫀 Cardiovascular surgery for heart defects

• 💊 Calcium and vitamin D supplements for low calcium

• 💉 Immunotherapy or antibiotics for immune support

• 🗣️ Speech and occupational therapy for communication and development

• 🧠 Mental health support, such as therapy or medication for psychiatric conditions

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✅ Living with DiGeorge Syndrome

With early diagnosis and a coordinated healthcare team, many individuals with DiGeorge syndrome can lead full, meaningful lives. Regular monitoring and supportive therapies help manage symptoms and improve quality of life.