About this topic
DiGeorge Syndrome is caused by a problem with your babys chromosomes. This happened before your baby was born. This causes some body systems to not develop as they should. Your baby may have problems with: ‚
- How their heart develops
- Their ability to fight infections
- The calcium level in their blood
- How the roof of their mouth develops
- Delayed development
- The position and look of their ears
- Heavy eyelids
- Underdeveloped chin
- How their brain works
What are the causes?
The signs of DiGeorge Syndrome are caused by a missing part of chromosome 22. In most cases, parents each pass on a full set of chromosomes to their baby. With this illness, the baby does not get part of the genes on chromosome 22. Doctors do not know why this happens. ‚
What can make this more likely to happen?
Your child is more likely to have DiGeorge Syndrome if one of the parents is also missing part of chromosome 22. ‚
What are the main signs?
- Heart defects like a hole between the lower chambers of the heart or only 1 large blood vessel leading out of the heart instead of 2
- Very small or missing parathyroid glands in the neck. This means your baby may have problems with low calcium levels. They may also have too much phosphorous in the blood.
- Small or missing thymus gland. This means your babys immune system does not work as well as it should. Your baby may have frequent infections.
- Cleft palate with or without a cleft lip
- Certain facial features like small ears that are low set, hooded eyes that are wide-set, or a flattened groove in the top lip
- Delayed development, emotional or behavioral problems
- Feeding problems
- Weight issues
- Breathing problems
How does the doctor diagnose this health problem?
Your doctor will do an exam on your child and may order: ‚
- Lab tests
- Ultrasound
- X-rays
- Echocardiogram
How does the doctor treat this health problem?
Your babys care depends on the signs your baby is having. Your baby will need to see many experts. Your baby may need a special diet to make sure they are getting enough calcium and not too much phosphorous. Your baby may need to have surgery to fix a problem with their heart or facial features. ‚
What drugs may be needed?
The doctor may order drugs to: ‚
- Give extra calcium and vitamin D
- Replace hormones
- Prevent infection
- Boost the immune system
Where can I learn more?
American Academy of Allergy, Asthma & Immunology ‚
http://www.aaaai.org/conditions-and-treatments/primary-immunodeficiency-disease/digeorge-syndrome.aspx ‚
Genetics Home Reference ‚
http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome/show/Patient+support ‚
National Organization for Rare Diseases ‚
http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/853/viewFullReport ‚
Velo-Cardio-Facial Syndrome ‚
http://www.vcfsef.org/about_vcfs.php?parent_id=2 ‚
Last Reviewed Date
2015-01-14 ‚
List_set bdysylist
- Immunologic
- Neonatal
- Pediatric
Consumer Information Use and Disclaimer
This information is not specific medical advice and does not replace information you receive from your health care provider. This is only a brief summary of general information. It does NOT include all information about conditions, illnesses, injuries, tests, procedures, treatments, therapies, discharge instructions or life-style choices that may apply to you. You must talk with your health care provider for complete information about your health and treatment options. This information should not be used to decide whether or not to accept your health care provider 's advice, instructions or recommendations. Only your health care provider has the knowledge and training to provide advice that is right for you. ‚
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Copyright ‚ © 2016 Wolters Kluwer Clinical Drug Information, Inc. and its affiliates and/or licensors. All rights reserved. ‚