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Doctor insights on: Digeorge Syndrome Symptoms

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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

Dr. Steven Neish
12 doctors shared insights

Digeorge Syndrome (Definition)

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 ...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 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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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

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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

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My doctor told me i'm the oldest person with digeorge syndrome. Is that a good or bad thing?

My doctor told me i'm the oldest person with digeorge syndrome. Is that a good or bad thing?

Has to be good news: You are lucky you are 38 years old with this syndrome in which many body systems are involved and 55% die in first month , and at 6 months mortality rate is 86% as most have heart defects but you areca surviver. ...Read more

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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?

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?

Glad for the checkup: It's fairly common for an adult to be diagnosed with DiGeorge, which is often quite mild. If you do have it -- and especially if it's been causing you problems with calcium homeostasis -- you'll be pleased with how much better you'll probably feel on treatment. ...Read more

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Would someone with digeorge syndrome have rotated ears?

Would someone with digeorge syndrome have rotated ears?

Has low sst ears: These babies have certain facial features like low set ears, wide set eyes or a narrow grove in the upper lip and may have cleft palate. ...Read more

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My child has digeorge syndrome, is it more likely that a bacterial infection can become septic?

My child has digeorge syndrome, is it more likely that a bacterial infection can become septic?

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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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.

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 more

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