22q11.2 Deletion Syndrome (DiGeorge Syndrome)

What is 22q11.2 deletion syndrome?

DiGeorge syndrome, more accurately known as 22q11.2 deletion syndrome (22q11 DS), is a genetic condition that causes a combination of medical problems. The condition is also known by several other names, including velocardiofacial syndrome, Shprintzen syndrome, and conotruncal anomaly face syndrome.

People with 22q11 DS can have a wide variety of medical conditions, including heart defects, cleft palate, speech or feeding problems, difficulty fighting infections, low calcium levels, kidney problems, learning or behavioral issues, and unique facial features.

What causes 22q11.2 deletion syndrome?

This condition is caused by a missing part of chromosome 22. The specific area of the chromosome that is missing is 22q11.2. The exact size and location of the missing piece can vary and this is thought to explain some of the variability in medical problems associated with the disorder. About 10 percent of cases are inherited. A parent with 22q11.2 deletion has a 50 percent chance of passing it on to each of their children. It’s estimated that about 1 in 4,000 children are born with 22q11 DS, however it may be more common since mild cases may go undiagnosed. In some cases, a deletion is not present but there is a pathogenic variant (sometimes called a mutation) in a gene that is within the 22q11DS region called TBX1.

What are the symptoms?

Children with 22q11 DS can have a wide range of signs and symptoms, with differing degrees of severity. Some babies show signs of the condition at birth and others are diagnosed in the first few years of life.

Common symptoms include:

  • heart problems, including interrupted aortic arch, truncus arteriosus, tetralogy of Fallot, and ventricular septal defects 
  • low muscle tone
  • speech difficulties
  • middle ear infections or hearing loss
  • vision problems feeding problems
  • frequent infections
  • learning disorders, especially with visual materials
  • developmental delays
  • communication and social interaction problems
  • psychiatric issues

Facial features may include:

  • small ears with squared upper ear
  • hooded eyelids
  • asymmetric facial appearance when crying
  • small mouth and chin, and wide nasal tip

How we care for 22q11.2 deletion syndrome

The experts in the Boston Children’s Hospital Cardiovascular Genetics Program provide a wide range of diagnostic, treatment, consultation, and advocacy services for children with 22q11 DS. We advance care through early diagnosis and evidence-based protocols geared to specific complications to maximize the quality of children's lives.

We also have a number of unique programs to assess and treat the many medical challenges a child with 22q11 DS may have. Our comprehensive team-based approach will ensure your child has access to any or all services that may benefit them.

Although there is no cure for 22q11 DS, we offer a range of options to address health problems related to the diagnosis. For this reason, the first step in treatment is a careful screening to check for underlying medical problems.