FAQ - peutz-jeghers syndrome
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who is affected when it comes to peutz-jeghers syndrome?


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Do I have peutz-jeghers syndrome?


So about 1-2 months ago , I started to see a small black mark growing on my lip. It grew a little bigger in time and now it's up to the point where there's a black line on my lip. I never got this before. How can I remove the mark? Do I have the syndrome? It's the only mark on my lip toes hands etc
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Yes possibly......You should have it checked out because the lip is the first place it usually starts.  (+ info)

Can you die from PEUTZ-JEGHERS SYNDROME? I am very concerned for my best friend! Please help!?


WE HAVE BEEN FRIENDS FOR A LITTLE OVER 13 YRS NOW. WELL, ABOUT 11 YRS AGO I STARTED NOTICING "BLUISH-BLACK SPOTS" STARTING TO APPEAR ON HER LIPS. I KNEW THAT SOMETHING WASN'T RIGHT ABOUT THESE SPOTS: JUST ALL OF THE SUDDEN APPEARING! I WAS 21 YRS OLD, AND JUST HAD BEEN BLESSED TO HAVE LIVED THROUGH A BAD CASE OF MELANOMA SKIN CANCER, 1 YR PRIOR. UNFORTUNATELY, SHE WOULD NOT TAKE MY ADVICE AND GO TO A SPECIALIST TO HAVE THESE SPOTS LOOKED AT. NOW, IN THIS PAST MONTH,11 YRS LATER!, SHE FINALLY WENT TO A DOCTOR. THE SPOTS HAVE SPREAD EVERYWHERE ON HER LIPS AND ON THE INSIDE OF HER MOUTH, INCLUDING THE GUMS OF HER TEETH.
SHE HAS SOME KIND OF DAY SURGERY IN TWO DAYS TO FIND OUT HOW BAD IT IS. I CAN'T EVEN SLEEP WITHOUT WORRYING ABOUT! PLEASE SOMEONE HELP ME WITH AT LEAST A CLUE OF WHAT THE POSSIBILITIES ARE OF HER DYING OF CANCER. I AM VERY UPSET AND WORRIED. THANK YOU,
MONICA
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The following is a pretty good web site that explains the Peutz-Jeghers Syndrome. While your friend is at a greater risk for cancer, I don't think this diagnosis is necessarily a death sentence. As you can see, she is probably going in for endoscopy to see if her small and large intestines are affected. If they have polyps, they will remove them and send the tissue samples to a pathologist to see if they are benign or not. If the doctor feels there is a risk, he/she may decide to remove parts of the bowel that are affected, but it looks like many people who suffer with this genetic anomaly live long productive lives. Just be there for her for support so if she gets bad news, she has someone to lean on. Think positive and hopefully she is going to be just fine. Don't worry too much right now. It isn't going to help anyone. Good luck to both of you.  (+ 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!
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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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