What percentage of people is suffering from Cockayne syndrome?
how many people?
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The current PREVALANCE RATE is:
Less than 1 per 100,000 people
NOTE:
The prevalance rate is the current documented rate of people already diagnosed and living with a disease. This is not always 100% accurate because it does not get all the stats from the all of the developing and third world countries that have unreported cases, but is accurate for all that is reported.
I hoped this helped. (
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What system part of the body does cockayne syndrome affect?
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.159 (
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How long do people live with this disorder called Cockayne Syndrome?
This is a share and care network:
http://www.cockayne-syndrome.org
type III you can last 40 to 50 years (
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How common is this disorder- Cockayne Syndrome?
Diagnosis/testing.
Classic Cockayne syndrome (CS) is diagnosed by clinical findings including postnatal growth failure and progressive neurologic dysfunction along with other minor criteria; atypical cases may require molecular genetic testing.
The two genes responsible for Cockayne syndrome are ERCC6 (75% of individuals) and ERCC8 (25% of individuals). Sequence analysis for both genes is clinically available.
Cockayne syndrome is inherited in an autosomal recessive manner. The parents of an affected child are both obligate carriers of an abnormal gene. Heterozygotes are asymptomatic. Each Sib of a proband has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.
Reproduction has not been reported in any individual with CS. Carrier detection in at-risk family members is available on a clinical basis once the mutations have been identified in the proband. Prenatal testing may be available through laboratories offering custom prenatal testing.
You can read more on this disorder on the following attached site:
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?indexed=google&rid=gene.chapter.cockayne (
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Why aren't there any cures for genetic disorders such as Cockayne Syndrome?
Because Stem Cell research is not readily available! (
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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 (
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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. (
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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" (
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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). (
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