The following information may help to address your question:
What are the signs and symptoms of 22q11.2 deletion syndrome?
The signs and symptoms of 22q11.2
deletion syndrome vary greatly from person to person, even among affected people in the same family. The most common symptoms include:
[1]
- Heart defects (74% of individuals)
- Abnormalities with the development of the palate (69% of individuals)
- Characteristic facial features (elongated face, almond-shaped eyes, wide nose, and small ears)
- Learning difficulties (70-90% of individuals)
- Immune system problems (77% of individuals)
Additional symptoms may include:[1]
- Low levels of calcium (50% of individuals)
- Significant feeding problems
- Kidney anomalies (31% of individuals)
- Hearing loss
- Issues with the development of the larynx, trachea, and esophagus (laryngotracheoesophageal anomalies)
- Growth hormone deficiency
- Autoimmune disorders (thrombocytopenia, juvenile rheumatoid arthritis, overactive thyroid)
- Seizures
- Skeletal abnormalities (extra fingers, toes, or ribs, wedge-shaped spinal bones, craniosynostosis)
- Psychiatric illness
- Eye abnormalities (ptosis, coloboma, cataract, and strabismus)
- Central nervous system abnormalities
Developmental delay,
intellectual disability, and learning differences are also common in individuals with 22q11.2 deletion syndrome. Individuals may also have an
autism spectrum disorders. Psychiatric illness, attention deficit disorder, anxiety, repetitive behaviors, and difficulty with social interactions are also common.
[1]
Last updated: 5/1/2017
Are thyroid problems associated with 22q11.2 deletion syndrome?
Yes. Some people with 22q11.2 deletion syndrome develop
autoimmune diseases that can affect the thyroid. This includes
Grave's disease, a disease that causes the thyroid gland to produce too much
hormone (hyperthyroidism) and
hypothyroidism, a condition in which the thyroid gland does not produce enough hormone.
[1]
Last updated: 5/1/2017
Why might calcium be given to a child with 22q11.2 deletion syndrome?
Many people with 22q11.2 deletion syndrome develop hypoparathyroidism.
[1] Hypoparathyroidism is a condition in which too little
parathyroid hormone (PTH) is produced. This condition causes low levels of
calcium and high levels of
phosphorus in the blood. Common symptoms may include
tingling,
muscle cramps, pain, dry hair,
brittle nails, dry, scaly skin,
cataracts, weakened tooth enamel in children, muscle spasms called tetany (can lead to spasms of the larynx, causing breathing difficulties), and
seizures. The goal of treatment is to restore the calcium and mineral balance in the body.
[1]
We recommend you discuss concerns regarding your child's treatment with his physician.
Last updated: 5/1/2017
Are seizures associated with 22q11.2 deletion syndrome?
Yes. Some people with 22q11.2 deletion syndrome have seizures. The seizures may be evidence of an underlying central nervous system abnormality or can result due to low levels of the parathyroid hormone.
[1]
Last updated: 5/1/2017
How might seizures be treated?
There are many treatment options available for children and adults with seizures. It can be challenging for a family to find the medication or procedure that works best for their child. We suggest that you speak with your child's health care provider about working with a physician who specializes in treating
epilepsy. The Epilepsy Foundation provides information that can assist you in finding an epilepsy specialist in your area. To access this information, click
here.
You can find more information on seizures and seizure disorders including information on treatment at the following links from
MedlinePlus, the National Library of Medicine Web site designed to help you research your health questions.
Additional information on seizures can also be found by visiting the following Web page developed by the National Institute of Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health (NIH).
Last updated: 5/1/2017
Can 22q11.2 deletion syndrome affect the central nervous system?
Last updated: 5/1/2017
Since my son is having seizures now, could it mean that he has a different syndrome?
Some individuals with 22q11.2 deletion syndrome do develop seizures. However, if you have questions regarding your son's diagnosis, we encourage you to speak with his healthcare provider. You may find it helpful to meet with a genetics professional, if you have not already done so.
Last updated: 5/1/2017
How can I find a genetics professional in my area?
Last updated: 11/30/2017
We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please
contact us.
Warm regards,
GARD Information Specialist
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