22q11.2 deletion syndrome

Symptoms

What are the main symptoms of 22q11.2 deletion syndrome?

There is a wide range of symptoms found in people with 22q11.2 deletion syndrome, and each person can be affected differently even if they are in the same family. The health problems most often seen at birth are heart defects and openings in the roof of the mouth (cleft palate). People with the 22q deletion syndrome can also have similar physical features consisting of small ears with squared upper ear, hooded eyelids, and an uneven facial appearance when crying though these features may not be fully apparent until childhood. Individuals with 22q11.2 deletion syndrome commonly have concerns with their immune system and this can lead to frequent infections and autoimmune disorders, like Graves disease and rheumatoid arthritis, later in life. Other symptoms can include problems with breathing, feeding or gastrointestinal issues, kidney defects, and hypocalcemia (too little calcium in the blood). In some cases, untreated low calcium in the blood can lead to seizures. Slightly shorter height and spinal abnormalities have been reported as well.

In addition to physical and medical concerns, 22q11.2 deletion syndrome can also affect how a child learns. Children with 22q11.2 deletion syndrome often develop a little slower than their peers. They are expected to reach all their developmental milestones, but may do so later than their peers. As children with 22q11.2 deletion syndrome age, they may have learning problems in school as well. Some people with 22q11.2 deletion syndrome may have attention deficit hyperactivity disorder (ADHD) or symptoms of autism that affect their ability to interact socially with others. Also, it is more common for people with 22q11.2 deletion syndrome to have mental illness compared to the general population. This can include schizophrenia, depression, anxiety, and bipolar disorder.

To learn more about what specific symptoms are being seen in your child and to determine what services and resources are available, please talk to your doctor or genetic counselor.

References
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More Symptoms Content

Are there earlier onset, later onset, or variant forms of 22q11.2 deletion syndrome?

Any other diseases that look a lot like 22q11.2 deletion syndrome?

Is there an "odd" or "unusual" symptom or clinical feature of 22q11.2 deletion syndrome?

Is there variable expression in 22q11.2 deletion syndrome?

How does 22q11.2 deletion syndrome affect the heart?

What type of palate defects do patients with 22q11.2 deletion syndrome have?

How common is hypocalcemia in patients with 22q11.2 deletion syndrome?

How many people with 22q11.2 deletion syndrome have learning difficulties in school?

How many people with 22q11.2 deletion syndrome have autism?

How many people with 22q11.2 deletion syndrome have mental illness?

Are there earlier onset, later onset, or variant forms of 22q11.2 deletion syndrome?

Though different health concerns can be noticed or start at different times, there is not typically an earlier- or later-onset form of 22q11.2 deletion syndrome, as the genetic change is present at conception. Sometimes it is suspicious that a child has 22q11.2 deletion syndrome from a heart defect or cleft palate (opening in the roof of the mouth) and thus genetic testing may be recommended. Other people though may not have their symptoms picked up until childhood or later depending on how they are affected by 22q11.2 deletion syndrome. Additionally some individuals with 22q11.2 deletion syndrome may go undiagnosed for years, particularly if their symptoms are very mild.

References
Any other diseases that look a lot like 22q11.2 deletion syndrome?

There are numerous other syndromes that have an overlap of symptoms with 22q11.2 deletion syndrome and a few of them, along with the overlapping symptoms, are listed below. If you are concerned about one of these other conditions, please talk to your doctor or genetic counselor.

  • Smith-Lemli-Opitz syndrome (cleft palate and extra fingers or toes)
  • Alagille syndrome (congenital heart disease present at delivery)
  • VATER association (congenital heart disease, palate defects, and kidney abnormalities)
  • CHARGE syndrome (congenital heart disease, palate defects, kidney abnormalities, growth deficiency, hearing loss, developmental delay, immunodeficiency)
References
  • McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 Deletion Syndrome. 1999 Sep 23 [Updated 2013 Feb 28]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1523/
Is there an "odd" or "unusual" symptom or clinical feature of 22q11.2 deletion syndrome?

Though heart defects occur in many babies without 22q11.2 deletion syndrome, conotruncal malformations or outflow tract defects within the heart are more commonly seen in babies with 22q11.2 deletion syndrome. Common types of conotruncal heart defects are truncus arteriosus, transposition of the great arteries, double outlet of the right ventricle, and tetralogy of Fallot. If one of these heart defects is noticed on an ultrasound in pregnancy or after delivery, your doctor will likely refer you to a genetic counselor or medical geneticist to determine if testing for 22q11.2 deletion syndrome is recommended. A genetic counselor in the area can be found on the National Society of Genetic Counselor's "Find a Genetic Counselor" page of the website:https://www.nsgc.org/page/find-a-genetic-counselor

References
  • McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 Deletion Syndrome. 1999 Sep 23 [Updated 2013 Feb 28]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1523/
Is there variable expression in 22q11.2 deletion syndrome?

There is variable expression among people with 22q11.2 deletion syndrome, which means that each individual may have different signs and symptoms. Some people with very mild symptoms may never know that they have 22q11.2 deletion syndrome, while others may be much more severely affected. Even family members with 22q11.2 deletion syndrome can have different health problems.

References
How does 22q11.2 deletion syndrome affect the heart?

Around 75% of people with 22q11.2 deletion syndrome have some type of congenital heart disease and researchers believe the increased risk for heart defects comes from the loss of the [I]TBX1[/I] gene that is in the missing part of the 22nd chromosome. Most commonly, these heart defects are conotruncal malformations where there is a problem with the way the blood leaves the heart to go to the body. Specific examples of conotruncal heart defects include tetralogy of Fallot, interrupted artic arch, ventricular septal defects, and truncus arteriosus. Surgery may be necessary depending on the severity of the defect. A meeting or exam by a heart doctor (cardiologist) may be recommended.

References
  • McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 Deletion Syndrome. 1999 Sep 23 [Updated 2013 Feb 28]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1523/
What type of palate defects do patients with 22q11.2 deletion syndrome have?

Around 70% of people with 22q11.2 deletion syndrome have palate defects. The most common, velopharyngeal incompetence (VPI) is a disorder that can affect swallowing and speech. VPI results in the improper closing of the velopharyngeal sphincter (soft palate muscle in the mouth) during speech, allowing air to escape through the nose instead of the mouth. This can occur due to a structural problem like a cleft palate or functional problem. Submucosal cleft palate (cleft that is covered over by the lining of the roof of the mouth) and/or a bifid uvula (cleft in the uvula) are also fairly common in individuals with 22q11.2 deletion syndrome, whereas overt cleft palate and cleft lip/palate are less commonly seen. Surgery may be recommended after one of these defects is seen and talking to your doctor will give you more information on the timing of any surgery.

References
  • McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 Deletion Syndrome. 1999 Sep 23 [Updated 2013 Feb 28]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1523/
How common is hypocalcemia in patients with 22q11.2 deletion syndrome?

Around half, or 50%, of individuals with 22q11.2 deletion syndrome will have hypocalcemia, or too little calcium in the blood. Giving extra calcium can help treat this symptom. If left untreated, low calcium in the blood can lead to seizures. The best person to help figure out if someone has hypocalcemia and order treatment is an endocrinologist, a doctor specially trained to diagnose and treat hormone imbalances. Endocrinologists in your area can be found by talking to your primary doctor or using the "Find an Endocrinologist" function at the American Association of Clinical Endocrinologists (https://www.aace.com/resources/find-an-endocrinologist).

References
  • McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 Deletion Syndrome. 1999 Sep 23 [Updated 2013 Feb 28]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1523/
How many people with 22q11.2 deletion syndrome have learning difficulties in school?

Approximately 70-90% of people with 22q11.2 deletion syndrome have learning difficulties of some kind. The severity of the learning disability can vary. Delays in reaching developmental milestones may include sitting, walking, babbling, saying their first words, and speaking in sentences. As children with 22q11.2 deletion syndrome grow older and attend school, they may experience difficulty with nonverbal processing, visual-spatial skills, complex verbal memory, attention, working memory, visual-spatial memory, and mathematics. As with any learning difficulties, awareness, early treatment, and a detailed learning plan like an Individualized Education Program (IEP) can help individuals do reach their full potential. For information and tips on how to help coordinate your child's care, please visit the Educational Resources Page as part of the International 22q11.2 Foundation Inc.

References
  • McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 Deletion Syndrome. 1999 Sep 23 [Updated 2013 Feb 28]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1523/
  • www.understood.org
How many people with 22q11.2 deletion syndrome have autism?

Around 20% of people with 22q.11.2 deletion syndrome have autism spectrum disorder. This can affect their ability to interact socially with others. Awareness of the autism risk, early intervention, and a detailed learning plan like an Individualized Education Program (IEP) can help individuals do better in school. If you believe your child has symptoms has symptoms of autism, please talk to your doctor as they may want an autism-specific behavioral evaluation. Additional resources for those newly diagnosed or seeking more information are available from Autism Speaks, an organization that focuses on the science behind autism and supporting advocacy, at https://www.autismspeaks.org/.

References
  • McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 Deletion Syndrome. 1999 Sep 23 [Updated 2013 Feb 28]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1523/
  • https://www.autismspeaks.org/
How many people with 22q11.2 deletion syndrome have mental illness?

Though the exact number is still under study, it may be up to 60% of people with the 22q deletion have some form of mental illness. Schizophrenia is a common diagnosis in this population and seems to affect 1 in 4 individuals, but other types of mental illness like depression, anxiety, and bipolar disorder can also be seen. Early diagnosis and treatment can help with management of symptoms. The International 22q11.2 Foundation Inc offers a mental checklist for teenagers and adults to help them assess their own mental health that can found at http://www.22q.org/wp-content/uploads/2016/01/Transition-factsheet-Mental-Health-20160113.pdf.

Though the exact number is still under study, it may be up to 60% of people with the 22q deletion have some form of mental illness. Schizophrenia is a common diagnosis in this population and seems to affect 1 in 4 individuals, but other types of mental illness like depression, anxiety, and bipolar disorder can also be seen. Early diagnosis and treatment can help with management of symptoms. The International 22q11.2 Foundation Inc offers a mental checklist for teenagers and adults to help them assess their own mental health that can found at http://www.22q.org/wp-content/uploads/2016/01/Transition-factsheet-Mental-Health-20160113.pdf.

References

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