Digeorge Syndrome

Overview

DiGeorge syndrome is a genetic condition that is present from birth. It is often called 22q11.2 deletion syndrome (say: twenty-two-q-eleven-point-two). It happens when a small piece of chromosome 22 is missing. Chromosomes are threads of DNA that carry the body's instructions. This missing piece can affect how the heart, immune system, calcium control, roof of the mouth, and learning develop. It is not contagious and it is not caused by anything a parent did or did not do.

It is uncommon. It is one of the more common chromosome deletion syndromes, but many general doctors see few cases in their whole career.

It can affect babies of any sex and any ethnic group. It is usually found in infancy or childhood, but some people are diagnosed later.

Symptoms

Common symptoms

• A heart murmur or a heart defect found soon after birth
• Feeding problems, poor weight gain, or slow growth
• Frequent or severe infections
• Low calcium levels, which can cause twitching, muscle cramps, or seizures
• A cleft palate (an opening in the roof of the mouth) or speech problems
• Developmental delay or learning differences
• Kidney problems
• Hearing problems

Symptoms in children

• Delayed speech or language skills
• Learning difficulties or need for extra support at school
• Anxiety, shyness, or behavior challenges
• Repeated ear, sinus, or chest infections
• Feeding and swallowing problems
• Growth slower than other children of the same age

Symptoms in older adults

• Long-term heart follow-up needs
• Recurrent infections if the immune system is affected
• Hormone or calcium problems that need monitoring
• Autoimmune conditions, such as thyroid problems, in some people
• Anxiety, depression, or other mental health needs
• Need for planned transition from children's services to adult care

Causes

Main causes

• In most people, a small piece of chromosome 22 is missing. This happens before birth.
• Sometimes a parent has the same chromosome change and can pass it on to a child.
• In many cases, it is a new change in the child and no other family member has it.
• It is not caused by something the parents did, ate, or drank during pregnancy.

Risk factors

• A parent or sibling with the same chromosome 22 change
• A family history of heart defects, cleft palate, or low calcium problems
• Genetic counseling can help families understand their chance of passing it on

When to see a doctor

See a doctor urgently if:

• A baby with fever, poor feeding, or unusual sleepiness
• Twitching, muscle spasms, or tingling around the mouth
• New breathing problems or a fast heartbeat
• Repeated infections or an infection that is not getting better
• Signs of dehydration, such as little urine or no tears when crying

Book a routine appointment if:

• A suspected or confirmed diagnosis of DiGeorge syndrome
• Concerns about speech, learning, behavior, or school progress
• Feeding, swallowing, or growth concerns
• Planning a pregnancy when there is a family history of the condition
• Questions about vaccines or infection precautions

Diagnosis

Doctors may suspect DiGeorge syndrome from a person's health history and a physical exam. A genetic blood test can confirm whether the piece of chromosome 22 is missing. Because the condition can affect several body systems, other checks are often arranged.

Tests that may be done

• Genetic blood test, such as a chromosome microarray or FISH test
• Echocardiogram (an ultrasound of the heart)
• Blood tests for calcium and parathyroid hormone
• Immune system tests, including immune cell counts and antibody tests
• Kidney ultrasound
• Hearing test and examination of the palate (roof of the mouth)
• Speech, developmental, and learning assessments

What to expect at your appointment

You may see several specialists, including a genetics doctor, heart doctor, immune doctor, and others. The process can take time. Ask questions and bring a list of concerns. A genetic counselor can explain what the results mean for you and your family.

Treatment

There is no single cure for DiGeorge syndrome. Care focuses on finding and treating the health problems each person has. Many people benefit from a team approach that includes general doctors, specialists, therapists, and family support.

Self-care at home

• Keep a clear care plan and a list of your specialists
• Wash hands often and avoid people who are clearly unwell
• Ask the care team before using live vaccines if the immune system is weak
• Track feeding, growth, and symptoms in babies and children
• Take any prescribed medicines exactly as the care team advises
• Keep all follow-up appointments, even when feeling well
• Ask for help with mental health and family stress

Medical treatments

Treatment is tailored to the person. Doctors may use medicines or supplements to keep calcium at safe levels, treat infections, and support the heart or kidneys. Some people with immune problems need immunoglobulin replacement, which is given by a healthcare team. Surgery may be needed for heart defects or a cleft palate. Speech, feeding, and developmental therapy can help children reach their potential. Regular monitoring is an important part of care.

When is surgery considered?

Surgery may be needed for certain heart defects, a cleft palate, or other problems found during checkups. The care team will explain the benefits and risks and the best timing for each person.

Living with this condition

Many people with DiGeorge syndrome see several specialists over time. Children may need early speech, feeding, or developmental support. Families often need to plan around appointments and infections. As children grow, planning for school support and a smooth move to adult health services is important.

Lifestyle tips

• Keep hands clean and teach children to wash hands well
• Avoid tobacco smoke and other lung irritants
• Get enough sleep and rest
• Stay active as advised by the heart team
• Keep teeth and gums healthy with regular dental care
• Follow the vaccine plan agreed with the care team
• Ask for help from a social worker or genetic counselor when needed

Diet and exercise

A balanced diet and healthy growth are important. Some babies and children need feeding support or extra help with swallowing. The care team may check calcium and vitamin levels. Exercise should be adjusted to the person's heart and health needs, so ask the heart team what is safe.

Mental health and emotional wellbeing

Living with a lifelong health condition can feel stressful for the person and the family. Anxiety, low mood, and worry are common and treatable. Talk with the care team about mental health support. If you or someone you care for has thoughts of self-harm, call your local emergency number or a local crisis service right away.

Prevention

DiGeorge syndrome is not usually preventable because it is caused by a chromosome change that happens before birth. Genetic counseling can help families understand the chance of passing it on and discuss testing options.

Vaccines

Most people should follow the recommended vaccine schedule for their country. If the immune system is weak, some live vaccines may not be safe. Always check with the immune care team before any vaccine.

Screening programmes

Prenatal genetic testing may be offered when there is a family history or certain findings on ultrasound. After birth, doctors may check the heart, calcium, immune system, and kidneys if the condition is suspected. People with the diagnosis need regular monitoring throughout life.

Complications

If left untreated

• Heart problems that can become serious without follow-up
• Severe or repeated infections when the immune system is affected
• Seizures or muscle problems from low calcium
• Feeding and growth problems
• Speech, learning, and developmental delays
• Kidney problems
• Autoimmune or hormone conditions later in life

Long-term outlook

The outlook varies depending on which body systems are affected and how early care begins. Many people with DiGeorge syndrome live full lives with regular specialist care. Some need lifelong monitoring. Early treatment, good support, and steady follow-up can make a real difference.

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