Doctor insights on:
Digeorge Syndrome Symptoms
Possibly: Since this process involves more than one defect, not all will show the same features. Most are mild & could be picked up by those knowledgeable of syndrome variations but may not be apparent to the public. ...Read more
DiGeorge Syndrome: Patients with digeorge syndrome may have abnormal facial features including a prominent nose, a hole in the roof of their mouth (cleft palate), problems with swallowing, breathing, and speaking, various heart defects that may require surgery, hearing loss, neurologic and learning defects, amongst other issues. They can have problems fighting infection and with parathyroid gland function. ...Read moreSee 1 more doctor answer
See below: Digeorge syndrome (22q11.2 deletion syndrome), a disorder caused by a defect in chromosome 22, results in the poor development of several body systems. Medical problems commonly associated with digeorge syndrome include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood and behavioral disorders. Tx - no cure, supportive mostly. ...Read more
22q11.2 deletion: Digeorge syndrome (22q11.2 deletion syndrome), a disorder caused by a defect in chromosome 22, results in the poor development of several body systems. Medical problems commonly associated with digeorge syndrome include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood and behavioral disorders. ...Read more
See a geneticist: Digeorge syndrome has the potential to cause abnormalities in many systems. Affected individuals can have cardiac defects, immune defects, endocrine defects, cleft palate, and psychiatric disease. An expert geneticist would be ideal to coordinate appropriate evaluation. Digeorge syndrome is typically caused by deletion of part of chromosome 22. ...Read more
Multiple tests...: There are multiple tests used to detect DiGeorge syndrome. The one preferred is comparative genomic hybridization(aCGH) to detect the 22p 11.2 deletion. It compares the patient's genome against another one used as reference.For more information and decision on further tests this should be consulted with a Genetics specialist. ...Read more
What to do if I have had a blood test done as my doctors think I may have digeorge syndrome, if it comes back that I do have?
Hi, my 6 year- old has a fever of 37.9 and has a cough and bad breath. She has said her lower tummy is sore. She has digeorge syndrome, asd, and vsd.
See your MD: I would have her evaluated by her doctor- common illnesses such as strep throat can present with feve, r stomach ach, e and bad breath but it is important to have her evaluated by a doctor to diagnose her. Patients with digeorge often have compromised immune systems. ...Read moreSee 1 more doctor answer
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