About 22q11.2 deletion syndrome

What is 22q11.2 deletion syndrome?

22q11.2 deletion syndrome, also known as DiGeorge syndrome or velocardiofacial syndrome, is a genetic disorder caused by the deletion of a small piece of chromosome 22. It is the most common microdeletion syndrome, occurring in 1 in 4000 births. Symptoms can vary widely, but may include heart defects, cleft palate, immune system problems, learning disabilities, and speech and language delays.

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

Common symptoms of 22q11.2 deletion syndrome include:

-Heart defects
-Cleft palate or cleft lip
-Developmental delays
-Feeding difficulties
-Growth delays
-Immune system problems
-Kidney problems
-Learning disabilities
-Low calcium levels
-Speech delays
-Thyroid problems
-Tooth abnormalities
-Weak muscle tone (hypotonia)

What are the causes of 22q11.2 deletion syndrome?

22q11.2 deletion syndrome is caused by a missing piece of chromosome 22. This missing piece is usually due to a random error that occurs during the formation of reproductive cells (eggs or sperm) in a parent. This error is known as a de novo mutation, meaning it is not inherited from either parent.

What are the treatments for 22q11.2 deletion syndrome?

1. Medication: Antipsychotics, antidepressants, and stimulants may be prescribed to help manage behavioral and emotional symptoms.

2. Surgery: Surgery may be necessary to correct physical abnormalities, such as a cleft palate or heart defects.

3. Speech and language therapy: Speech and language therapy can help improve communication skills.

4. Occupational therapy: Occupational therapy can help improve fine motor skills and daily living activities.

5. Behavioral therapy: Behavioral therapy can help manage behavioral issues.

6. Dietary changes: Dietary changes may be necessary to help manage nutritional deficiencies.

7. Genetic counseling: Genetic counseling can help families understand the condition and its implications.

What are the risk factors for 22q11.2 deletion syndrome?

1. Family history of 22q11.2 deletion syndrome
2. Maternal age over 35
3. Advanced paternal age
4. Maternal diabetes
5. Maternal use of certain medications during pregnancy
6. Maternal exposure to certain environmental toxins during pregnancy
7. Maternal infection during pregnancy
8. Low birth weight
9. Premature birth

Is there a cure/medications for 22q11.2 deletion syndrome?

Yes, there is no single cure for 22q11.2 deletion syndrome, but there are medications and treatments available to help manage the symptoms. These include antipsychotic medications, anticonvulsants, and stimulants to help with attention and focus. Additionally, physical, occupational, and speech therapy can help with motor and communication skills.