About Complete DiGeorge Syndrome
What is Complete DiGeorge Syndrome?
Complete DiGeorge Syndrome (also known as 22q11.2 deletion syndrome) is a rare genetic disorder caused by a deletion of a small piece of chromosome 22. It is characterized by a wide range of physical and developmental problems, including heart defects, immune system deficiencies, cleft palate, and learning disabilities. People with this condition may also have facial abnormalities, such as a small jaw and low-set ears. Treatment typically involves a combination of medications, surgery, and lifestyle changes.
What are the symptoms of Complete DiGeorge Syndrome?
The symptoms of Complete DiGeorge Syndrome vary from person to person, but may include:
-Low calcium levels
-Immune system deficiencies
-Abnormalities of the thymus and parathyroid glands
What are the causes of Complete DiGeorge Syndrome?
Complete DiGeorge Syndrome is caused by a deletion of a small piece of chromosome 22. This deletion is known as 22q11.2 deletion syndrome. It is believed to be caused by a random error in the formation of reproductive cells (eggs or sperm) in one of the parents.
What are the treatments for Complete DiGeorge Syndrome?
The treatments for Complete DiGeorge Syndrome vary depending on the individual and the severity of the condition. Generally, treatment focuses on managing the symptoms and complications associated with the condition. This may include medications to help with breathing, antibiotics to prevent infections, surgery to correct heart defects, and physical and occupational therapy to help with development. In some cases, a bone marrow transplant may be recommended to help improve the immune system.
What are the risk factors for Complete DiGeorge Syndrome?
1. Maternal diabetes
2. Maternal use of certain medications, such as anticonvulsants, during pregnancy
3. Maternal infection during pregnancy
4. Advanced maternal age
5. Family history of the disorder
6. Chromosomal abnormalities, such as a deletion of a portion of chromosome 22
Is there a cure/medications for Complete DiGeorge Syndrome?
There is no cure for Complete DiGeorge Syndrome, but there are medications and treatments available to help manage the symptoms. These include antibiotics to prevent infections, medications to help regulate heart rhythm, and hormone replacement therapy. Surgery may also be necessary to correct any physical abnormalities.