FAQ - Rubinstein-Taybi Syndrome
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what organs and body systems are affected by Rubinstein Taybi Syndrome?


You saw the title.
Don't say something like it affects a lot of systems, that isn't an answer.
Give me your source for the best answer.
:)
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Symptoms

Broadening of the thumbs and big toes
Constipation
Excess hair on body (hirsutism)
Heart defects possibly requiring surgery (about 30% of patients)
Mental retardation
Seizures
Short stature that is noticeable after birth
Slow development of cognitive skills
Slow development of motor skills accompanied by low muscle tone


Signs and tests

Examination and testing may reveal:

An underdeveloped bone in the midface
Narrow palate
Crowded teeth
Unsteady or stiff walking gait
Downward-slanted eyes
Low-set ears or malformed ears
Drooping eyelid (ptosis)
Cataracts
Coloboma (a defect in the iris of the eye)
Cryptorchidism or other testicular problems
Macrocephaly (excessively large head) or microcephaly (excessively small head)
Skeletal (limb abnormalities including the last segment of the other fingers and toes, appearing broad on x-rays or physical examination
Thick and arched eyebrows with long eyelashes
Narrow, small, or recessed mouth with crowded teeth
Prominent or "beaked" nose
Absent or extra kidney, and other problems with kidney or bladder  (+ info)

I need some information about Rubinstein-Taybi Syndrome and when people are diadnosed?


www.webmd.com  (+ info)

Rubinstein-Taybi Syndrome Do any of your children have it?


If so i am curious about it. MY daughter most likely has it and i want to learn more about it. I cant really know first hand by reading the internet. I am scared for her and floored but she is my baby and we will be fine. So i guess what i am asking is as a parent what do you do to support your children in every day life? she is 5 months old her symptoms are

* acid reflux
* non stop crying
*down slanted eyes
* eating and swallowing issues
*aspiration issues
probably more that i missed.

I am just worried and want to prepare myself for whats to come.
Thank you.
My doc has confirmed that we are checking her for a syndrome look it up. Its rare but it exists.
Thanks guys i am looking for other parents though. I have already red the web pages.
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i've never met any children with it myself, or if I have, i didn't know it. This website may help you though.

http://www.rubinstein-taybi.org/  (+ info)

What is the name of the syndrome that the person may appear to have facial characteristics of down's syndrome?


I previously watched a documentary about sufferers of a syndrome whose facial features appeared to be down's syndrome but it wasn't down's syndrome. The grow to be quite large adults and have special needs. Does anyone know the name of this condition?
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Klinefelter syndrome  (+ info)

Are there different types of Down syndrome and what areas of the body does Down syndrome affect? ?


Also, are there any significant statistics related to Down syndrome? Has Down syndrome received any recent attention from the media? Are there any famous people that have Down syndrome.
Answer as many of the above questions as possible.
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There are three types of Down syndrome, garden variety Trisomy 21, mosaicism and translocation.

Read more at:

Welcoming Babies with Down Syndrome (English, Spanish, French)
http://www.bellaonline.com/articles/art32534.asp

There is a slide show that also incorporates videos of the featured 'More Alike than Different' cast at the National Down Syndrome Congress website:

http://www.ndsccenter.org/morealike/flash/

And great information at the National Down Syndrome Society website:
Down Syndrome Fact Sheet
http://www.ndss.org/index.php?option=com_content&view=category&id=35&Itemid=57

You might also enjoy

Margaret's Guide to Down Syndrome
http://www.patriciaebauer.com/2007/05/12/margarets-guide-to-down-syndrome/

For bios of actors with Down syndrome, see:

Down Syndrome and the Acting Gene
http://www.bellaonline.com/articles/art34198.asp

and

DS in Arts and Media
http://www.dsiam.org/

and

Michael Johnson
http://www.users.psln.com/sharing/Michael/mainMichael.html

and

Sujeet Desai
http://www.sujeet.com

Down Syndrome Links at the Family Village website
http://www.familyvillage.wisc.edu/lib_down.htm

Check out this recent New York Times article:

The DNA Age: Prenatal Test Puts Down Syndrome in Hard Focus
http://www.nytimes.com/2007/05/09/us/09down.html

Have fun with your research!
  (+ info)

What is so bad about having down syndrome?


I think people are a lot colder than they want you to believe. Too many pregnancies prediagnosed with down syndrome are terminated! Doctors tell people that their kid will be like some animal and people believe them. I've met my share of people with down syndrome, and they all seem pretty human to me. On top of that, they were all decent folks, which is a lot more than I can say for the general population. And how does knowing that unborn children are purged because of down syndrome affect those who were born and have down syndrome?
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WOW!! I'm so glad that there are other people who's lives have been touched as mine has. See when I was 28 I gave birth to twin girls and one of them was born with Mosaic down syndrome. Of course, I didn't know much about it til now....and yes I was shocked. They are 14 months old now, and such a blessing as well as my two boys. My daughter is about 4 months behind in her milestones, but she is always so happy! Out of all my kids she is the easiest to handle.

It's always nice to have other people, who see that they are more alike, then different from the rest of us.  (+ info)

What is the syndrome called when you cannot feel physical pain?


I remember watching a show a long time ago, and this one little girl was born with a syndrome where she could never feel pain. If she fell on the floor and cut her knee, she wouldn't cry, whereas most children would.

What is this called? Is it a syndrome? Is it a medical condition? I just want to know what it's called, and I can do the research on it.

It is for a story I am writing but I don't entirely know what it is.
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It's called "congenital insensitivity to pain"  (+ info)

What syndrome would someone have that the doctor would need to put them on bloodthinners?


My sister is 18 and just moved out here from MN to go to school. She has had many medical problems and been to several doctors. She recently told me that the doctor said there was something wrong with her blood and she needs to be put on blood thinners for the rest of her life. What syndrome could this be?
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There are several, but the first that comes to mind is Factor-V (five).  (+ info)

What is the syndrome where boys usually grow more than average?


I think it is Jacobs syndome.. XYY syndrome.. but wikipedia says that is only a little more than average. what is the only where they get really big ?
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Yes it is called gigantism. It is caused by a tumour or either a chromosome disorder. Another thing that causes gigantism is the inability to inhib the GH (growth hormone) when it is produced. This is why the people who have it get very TALL.  (+ info)

Adrenal Fatigue Syndrome where in Philippines can i get a help?


Hi

I need some help with Adrenal Fatigue Syndrome. My mom thinks she has this Adrenal Fatigue Syndrome and needs a doctor to confirm this. Where in the Philippines can I find help or what type of doctor she should see? Do you know one? Please advice

thanks!
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  (+ info)

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