Question 1

how does digeorge syndrome affect your appearance?

Accepted Answer

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.

Question 2

what are common physical features of people with digeorge syndrome?

Accepted Answer

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

Question 3

how should i proceed after being dianosed with digeorge syndrome?

Accepted Answer

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.

Question 4

if a child has digeorge syndrome. would he have serious immunological problems?

Accepted Answer

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

Question 5

would a high resolution cytogenetic analysis detect digeorge syndrome or q22?

Accepted Answer

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.

Question 6

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

Accepted Answer

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.

Question 7

would someone with digeorge syndrome have rotated ears?

Accepted Answer

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.

Question 8

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

Accepted Answer

Maybe: Digeorge syndrome children have a problem with their t cells, so they have trouble fighting off fungal, viral, and pneumocystis infections. This immune deficiency behaves similarly to the t cell problems seen in aids patients. A pediatric infectious disease or immunology specialist can help assess whether or not a digeorge patient is at high risk when he gets a particular bacterial infection.

Question 9

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.

Accepted Answer

See doctor: With digeorge and vsd need to make sure not bacterial infection. May need antibiotics.  Get her checked out.

Question 10

what's little man syndrome?

Accepted Answer

Short man syndrome: Another name for the short or little man syndrome is a napoleon complex. Sometimes men with short stature may feel inferior and over-compensate for it.  An example: a short man who aggressively drives the top of the line sports car- (is he compensating for feelings of inadequacy?).

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Doctor answers about:

Digeorge syndrome

A member asked:

How does digeorge syndrome affect your appearance?

A member asked:

What are common physical features of people with digeorge syndrome?

A member asked:

How should i proceed after being dianosed with digeorge syndrome?

A member asked:

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

A member asked:

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

A member asked:

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

A member asked:

Would someone with digeorge syndrome have rotated ears?

A member asked:

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

A member asked:

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.

A member asked:

What's little man syndrome?

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