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Doctor insights on: What Is Digeorge Syndrome

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What is digeorge syndrome and how can it be treated?

What is digeorge syndrome and how can it be treated?

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

Dr. Steven Neish
12 doctors shared insights

Digeorge Syndrome (Definition)

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 ...Read more


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What are the symptoms of digeorge syndrome?

What are the symptoms of digeorge syndrome?

22q11.2 deletion: Wide variation including congenital heart disease (conotruncal abnormalities), cleft palate, t cell deficiency (thymic hypoplasia/aplasia), parathyroid deficiency (hypocalcemia), learning difficulties, and schizophrenia. ...Read more

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What does a child with digeorge syndrome look like?

What does a child with digeorge syndrome look like?

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 more

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Does digeorge syndrome affect your appearance?

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

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How does digeorge syndrome affect your appearance?

How does digeorge syndrome affect your appearance?

Chromosomal deletion: Low set and posteriorly rotated ears, ocular hypertelorism, and a bulbous nasal tip.Long face with a prominent nose the facial features in dgs often become less pronounced with age. ...Read more

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What is the definition or description of: digeorge syndrome?

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

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How should I proceed after being dianosed with digeorge syndrome?

How should I proceed after being dianosed with digeorge syndrome?

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

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If a child has digeorge syndrome. Would he have serious immunological problems?

If a child has digeorge syndrome. Would he have serious immunological problems?

Possibly: In children with digeorge syndrome, the thymus gland may be small or missing, resulting in poor immune function and frequent, severe infections. ...Read more

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Would a high resolution cytogenetic analysis detect DiGeorge syndrome or q22?

Would a high resolution cytogenetic analysis detect DiGeorge syndrome or q22?

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