FAQ - DiGeorge Syndrome
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Digeorge syndrome?

A co-worker recently had a son and he was just diagnosed with this syndrome. I've read about it on the internet but was wondering if anyone had any personal experience with this birth defect. Thanks in advance.

No, I haven't even heard of it!

Good Luck!!!
♠♥♣♦  (+ info)

What do I do after the diagnosis of DiGeorge Syndrome?

My 12month old has been diagnosed with DiGeorge syndrome and i am curious to know what steps should I take next. He sees the Genetic doctor on a regular. He has just began to crawl about 2-3 weeks ago. I am just lost as to what I can do in a parents perspective. Please help..

Have you talked to a genetic counselor about where to go from here? What is the extent of the DiGeorge symptoms? That would be your first place to start. Most importantly, remember that with a syndrome comes a variety of symptoms. All kids are very individual with individual symptoms. Some helpful therapists include Occupational Therapy, Physical Therapy, and Speech Therapy (perhaps when your child is older). They can start working on issues of low muscle tone. Depending on immune issues, you could see an Endocrinologist, a GI specialist and an Infectious Disease specialist. The best advice is to take things one step at a time. YOu cannot possibly do everything at once. Contact your local Board of Developmental Disabilities (MRDD) and ask for help with support services. They can help you navigate the preschool/early intervention system.  (+ info)

my doctor told me im the oldest person with DiGeorge Syndrome?

im 24 years old and have DiGeorge Syndrome.the doctors told my mom i was suppost to die at the age of 13. she just recently told me this.should i be worried that i can die any day now since im not suppost to be living anyway?

Medicine, although largely connected to science, is the practice of an art form. It would be too difficult to know what, if any, changes in your life expectancy might be. This is largely dependent on what organ systems, and to what extent, is effected.

That said, it would be advisable to see a doctor familiar with DiGeorges; and from there, get a good, comprehensive physical.

Best of luck to you, Mate.

Cheers!  (+ info)

Does anyone know of a support group in Texas for DiGeorge syndrome?

My brother has a 22 year old daughter with Di George Syndrome. He and his wife are looking for some help regarding getting some sort of a job, can she get disability payments and health insurance. They have had her tested and are told she could do some kind of a job but she is not good at counting money or telling time. Is there any help for them and her? Thanks all:)

DiGeorge syndrome is also 22q11 deletion syndrome and called velo-cardio-facial syndrome. Check out VCFS Texas Inc.


There is also a yahoo group for VCFS Texas:


We are also on Facebook where several informational links are posted.


For a job, the best place to start may be DARS


Contact VCFS Texas Inc. and see if they can help you with further questions! :)  (+ info)

What is the physical appereance of someone with DiGeorge Syndrome?

Major FeaturesHead and neck: Micrognathia.
Ears: Low-set small posteriorly rotated ears that are sometimes pointed and middle ear abnormalities.
Eyes: Hypertelorism and downslanting palpebral fissures.
Nose: Choanal atresia, blunted nose with a broad bridge, anteverted nostrils, clefting or indentations, and short philtrum.
Mouth and oral structures: U-shaped mouth, cleft palate, bifid uvula, and highly arched palate.  (+ info)

I have digeorge syndrome and I'm pregant. Is there any advice?

I'm a 23 year old female who just found out I'm pregant and I have digeorge syndrome. It's a small deletion of cromozone #22.
Is there another person out there with Digeorge syndrome who has kids.

I work for a little girl who has it. Her mom and all of her sisters have it. It's carried down.  (+ info)

Can someone send me a type of picture of DiGeorge Syndrome?

For a biology project

it's gonna be hard to find a good picture, since it's just a deletion of part of the 22nd chromosome.
hope that helped though  (+ info)

people who know about digeorge syndrome only please...thank you :)?

My sister was born with digeorge syndrome. I'm not sure if she inherited it from our mother or not (she has a different father). I wanted to know what the chances were,if any, that I could pass it on to my children and if there are tests to check for it before birth.

Highly unlikely that you would pass it on as you do not have it yourself. As it is a dominant trait you can't be a carrier without showing symptoms.

In most cases, (90-95%), DiGeorge syndrome is a new mutation, (there are no other cases of it in the family), rather than being passed on. In this respect, your children have as much chance of getting it as mine or anybody else's.

Amniocentesis can determine the existence of the syndrome in an unborn fetus if necessary.  (+ info)

My daughter has DiGeorge Syndrome. She is having problems with her knee, can it be related?

My daughter has DiGeorge Syndrome. A couple months ago we noticed her knee was swollen. I took her into the Doc and we couldnt extend her leg. It was as if her leg was locked or like there was something inside like a resistance band that wouldnt let it stretch past a certain point. Its still this way and no one knows what could have caused it. There was no injury. She is going to go into an Orthopedists office to have it checked by a specialist. Its taking forever though!!! Its affecting her mobility. If I hold her up she can only stand on one leg while the other one stays bent. Im just wondering if any of you have or know someone with Digeorge who might have had the same problem...Please help!!! Thanks:)

I do not know of anyone with this syndrome, but the Internet is full of information, you need to do some research and write down your notes.. find doctors who are familiar with this.. get other opions. If they should put her on any medications of any kind.. do your research on them!!!! They could do more harm than good. See if they have alternative medications ... (not from the doctors tho) different diet ect.,. Good luck and I will be praying that God will help you find the knowledge you need.  (+ info)

Can Digeorge Syndrome be prevented?

* info for project.

I agree with "Emily". Do your own research. This is your project, not ours. We're not getting a grade, you are. See that little search bar in the upper right-hand corner of your screen? Well? What are you waiting for?  (+ info)

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