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Doctor insights on: Digeorge Syndrome

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Dr. Steven Neish
13 doctors shared insights

Digeorge Syndrome (Overview)

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.


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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

Dr. Steven Neish
13 doctors shared insights

Digeorge Syndrome (Overview)

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.


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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 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 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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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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Is Marfan syndrome dangerous? Any possible medication to get rid of the possible health problems?

Is Marfan syndrome dangerous? Any possible medication to get rid of the possible health problems?

Potentially yes..: Marfan syndrome is a disorder of the connective tissues which strengthen the body--medically, it affects the skeletal (weaker tissues, joints, flatfeet etc) , cardiovascular (dilated aortic root, valve trouble etc..), eye (cataract/lense dislocation), and skin systems. Most dangerous is involvement in the heart as above. Unfortunately, no specific medication available. Consult doc. Good luck. ...Read more

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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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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?

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?

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

See 1 more doctor answer
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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

Dr. Alan Ali Dr. Ali
1 doctor agreed:
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What are common physical features of people with digeorge syndrome?

Dr. Alan Ali Dr. Ali
1 doctor agreed:
What are common physical features of people with digeorge syndrome?

Di george syndrome: Cleft palate, hearing loss, skeletal abnormalities, seizures, emotional problems. ...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