22q11.2 Deletion

22q11.2 Deletion Syndrome Overview

Because of the way our understanding of the 22q11.2 deletion evolved, several different names continue to be used for what we now know to be the same condition. These older terms include DiGeorge syndrome (DGS), velo-cardio-facial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome, and Cayler cardiofacial syndrome. Genetically speaking, there is no detectable difference in the microdeletions found in people with VCFS versus those with DGS or the other related syndromes. Individuals with these diagnoses all have the same underlying condition: the 22q11.2 deletion syndrome. Rather than further dividing our small 22q community, the Foundation aims to bring us all together by educating the public and professionals about the deletion’s many names. Learn about the Foundation’s Same Name Campaign.

Due to advancement in surgical techniques, more people with cardiac problems are able to live to adulthood and have their own children. This may result in an increase in the proportion of familial cases of 22qDS.

Further complicating the 22q story, a known deletion involving different genes further down the chromosome is associated with an entirely unrelated and far less common disorder called 22q13 deletion or Phelan-McDermid syndrome. If you are looking for information about 22q13, please visit the Phelan-McDermid Syndrome Foundation.

A syndrome is a recognizable pattern of physical and behavioral features. The 22q11.2 deletion syndrome is caused by a missing section (microdeletion) of chromosome 22, which is present from the time a child is conceived. Present in 1 out of every 1,000 live pregnancies, in 1 in 68 children with congenital heart disease, and in 5 to 8 percent of children born with cleft palate, the 22q11.2 deletion is almost as common as Down syndrome, a widely recognized chromosomal disorder. The deletion has the potential to affect almost every system in the body and can cause a wide range of health problems. No two people are ever exactly alike, even when they have the same syndrome, and not every person with the deletion is affected in the same way. Though not always present, the key characteristics of this syndrome include combinations and varying degrees of:

  • heart defects
  • palate differences
  • feeding and gastrointestinal difficulties
  • immune system deficiencies
  • growth delay
  • kidney problems
  • hearing loss
  • low calcium and other endocrine issues
  • cognitive, developmental and speech delays
  • behavioral, emotional and psychiatric differences (ADHD, autism, anxiety, etc.)

The 22q11.2 deletion is most often a “de novo” event, meaning that it is not inherited from either parent and does not usually run in a family. Only about 10% of children with the 22q11.2 deletion have a parent who is also affected. In the majority of individuals, the deletion happens sporadically without a previous family history of the condition. There is nothing the parents did or failed to do that caused the deletion to occur. For parents who do not have the deletion, the chance that a future child might be affected is very low. For individuals with the 22q11.2 deletion, there is a 50% chance of passing on the deletion to a child with each pregnancy. Individuals within the same family who have the deletion may or may not be similarly affected. For example, a mother could have very mild manifestations of the 22q11.2 deletion, while her child may have a severe heart defect needing surgery immediately after birth.

Although there is no cure for the 22q11.2 deletion, many therapies and medical interventions are available to help address its associated symptoms. The earlier these symptoms are detected, the more doctors can do to help. That’s why, when diagnosed with this condition, evaluation is recommended in the following areas:

  • Audiology
  • Cardiology
  • Child development and psychology
  • Cleft palate
  • Ear, nose and throat
  • Endocrinology
  • Feeding/nutrition
  • Genetics
  • Immunology
  • Neurology
  • Orthopedics
  • Urology

Even if a child doesn’t have a known heart defect, a cardiologist’s evaluation is important, although the likelihood of finding a previously unrecognized problem is low. An evaluation usually includes a chest X-ray, an electrocardiogram (ECG), and an echocardiogram (sometimes called “echo’).

Children with a 22q11.2 deletion may have learning style differences requiring some extra help in school. In addition, young children may have delays in their developmental milestones and might benefit from early intervention, such as physical, occupational, and speech therapy. That’s why it’s important to have developmental testing on a regular basis. If your child is noted to be behind in any areas, appropriate interventions will be recommended.

Children with the deletion should see a plastic surgeon who specializes in cleft palate and velopharyngeal incompetence. In addition, they should see a speech and language pathologist who can also evaluate speech, language and — if they’re young — feeding. Some centers have specialized computer methods of objectively measuring speech to decide if intervention is necessary. Some teams also have growth specialists and dentists who monitor face, jaw, and tooth growth.

This evaluation may be done as part of the cleft palate team work-up. Children with a cleft palate often have trouble with ear infections and can benefit from seeing an ear, nose and throat (ENT) doctor — also called an otolaryngologist. In addition, an ENT can help children who have problems with “noisy” breathing as a result of their disorder. Since some children with a 22q11.2 deletion may also have hearing loss, your child would benefit from a hearing test (audiogram), as well.

Some children with a chromosome 22q11.2 have problems with low calcium when they’re newborns and may need a calcium supplement. During this time, the cardiologist or pediatrician will handle low calcium problems. If the problem continues, your child may need to see an endocrinologist (hormone doctor). In addition, some older children have problems with growth (called short stature) and may require growth hormone therapy. An endocrinologist can help.

Children with a 22q11.2 deletion often have feeding difficulties, especially when they’re newborns. A pediatrician who specializes in feeding can help. Your child’s healthcare provider will only recommend an evaluation if a problem already exists.

The geneticist is the person who’s most likely to have an overview of your child’s diagnosis. The geneticist stays up-to-date with the latest research about the 22q11.2 deletion. It’s important for a child with the deletion to have a yearly evaluation, so the geneticist can answer questions about his or her general care, as well as the chances that the disorder will recur in future generations of a family.

Many newborns with a 22q11.2 deletion have problems with their immune systems, so they may have trouble with infections or certain vaccines. Most children outgrow this problem by their first birthdays, but some of them continue to have trouble into later childhood and adulthood. In addition, some children develop autoimmune diseases related to their immune deficiency, such as juvenile rheumatoid arthritis, idiopathic thrombocytopenia, vitiligo, and Graves disease. A child with the deletion should be evaluated by an immunologist at least once.

Some children with a 22q11.2 deletion have a seizure disorder (unrelated to low calcium) or balance problems which require a neurologist’s services. A child’s healthcare team should determine if an initial evaluation with a neurologist may be helpful.

Mental health issues, including anxiety and other psychiatric illnesses, are common in patients with 22q11.2DS. These may begin in childhood, but more often during teen or adult years. It is important to remember that psychiatric illnesses are treatable conditions. Changes in thinking, emotions, sleep patterns, and behavior may be early signs. Changes in functioning, e.g., socially with friends and family, and at school, home or at work may indicate the need for medical attention. Early diagnosis and effective management are best for everyone. 

Some children have kidney problems — even a missing kidney — which a renal (kidney) ultrasound can detect. In addition, some children have urinary tract infections, urinary reflux, bedwetting or urinary frequency. Children having these types of problems should see a urologist familiar with the chromosome 22q11.2 deletion.

  • Constipation
  • Leg pain
  • Differences in the blood vessels in the neck that lead to the brain (carotid arteries)
  • Bone differences, such as extra fingers, extra ribs, a missing forearm bone and spine problems including abnormal neck bones and abnormalities that sometimes lead to spine curvature (scoliosis)
  • Spina Bifida
  • Juvenile rheumatoid arthritis or other autoimmune disorders
  • Eye and vision problems
  • Craniosynostosis (premature closure of the fontanels or “soft spots” of the skull)
  • Intestinal malrotation
  • Diaphragmatic hernia
  • Hirschsprung’s disease
  • Tracheoesophageal fistula
  • Laryngeal web
  • Imperforate anus
  • Absent uterus

If a child has these symptoms in any of these areas, he or she should be referred to a specialist.

Most children and adults with the 22q11.2 deletion do quite well both medically and as members of their families and communities at large. As with anything that is unexpected, coming to terms with the diagnosis is often difficult at first but becomes easier as more information becomes available. Families can benefit from the opportunity to meet other children and adults with the 22q11.2 deletion and/or to converse with them through diagnosis-specific internet sites. In addition, attendance at family meetings and picnics; contacting support networks; and sending children to camps specifically designed for those individuals with a 22q11.2 deletion is often helpful, as families realize they are not alone. Learn more about coping with the diagnosis.

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