DiGeorge Syndrome

What is DiGeorge Syndrome

DiGeorge syndrome is a disease that some children are born with (congenital). It is caused by a missing part of a chromosome.

Chromosomes are structures inside cells that are made of genes. They carry the genetic information about how the body develops.

DiGeorge syndrome can cause various problems with health and development. These can include an unusual facial appearance, heart defects, and frequent infections. Some children have low levels of calcium that can lead to seizures. Most problems caused by DiGeorge syndrome are treatable.

What are the causes?

DiGeorge syndrome is caused by a missing part in chromosome 22. This defect is called the 22q11.2 deletion. This deletion affects each child in different ways. Your child may have a few minor problems or several more serious problems.

Most often, the deletion from chromosome 22 happens on its own during development (spontaneousor sporadic deletion). It is not known why this happens. In a small number of cases, the deletion is passed down through families (inherited).

What are the signs or symptoms?

Signs and symptoms depend on the type of developmental defects your child has. Common signs and symptoms include:

  • Unusual facial appearance. This may include a small chin, heavy eyelids, low-set ears, and a long face. Many children also have a defect in the roof of their mouth (cleft palate). This may cause early feeding problems in babies.
  • Heart defects. These can cause the skin or lips to appear blue (cyanosis). The child may also have breathing problems.
  • Thymus gland problems. This gland is normally located under the breastbone. It makes a type of white blood cell that is important for fighting infections (T cell). In people with DiGeorge syndrome, the thymus gland may be small or absent. Frequent infections can be a sign of DiGeorge syndrome.
  • Parathyroid gland problems. The parathyroid glands are located in the neck. They help regulate blood calcium. Low calcium levels can cause twitching or seizures.
  • Behavioral and learning problems. Children with DiGeorge syndrome may be hyperactive and have speech and language problems. Babies may take longer than usual to reach developmental milestones, such as sitting or walking.
  • Immune system problems. These can include swollen joints, rashes, and abnormal bleeding.

How is this diagnosed?

Your child’s health care provider may suspect DiGeorge syndrome if your child has the typical signs of the condition. The health care provider will also do a physical exam and may order a blood test to check for the 22q11.2 deletion. This is the best way to confirm a diagnosis of DiGeorge syndrome.

How is this treated?

Treatment of DiGeorge syndrome depends on the type of defects your child has and how severe they are. Treatment may require a team of specialized health care providers. Possible treatments include:

  • Calcium and vitamin D supplements to prevent low calcium.
  • Surgery to correct a heart defect.
  • Surgery to correct a cleft palate.
  • Prompt treatment of infections.
  • T cell bone marrow or thymus transplant to treat T cell problems.

Follow these instructions at home:

  • Work closely with your child’s team of health care providers.
  • If your child has immune system problems, check with the child’s health care provider to make sure all vaccinations are safe for your child to receive.

Contact a health care provider if:

  • Your child has chills or a fever.
  • Your child’s symptoms change or get worse.

Get help right away if:

  • Your child has a seizure.
  • Your child has difficulty breathing.

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