how many newborns survive with denys drash syndrome?
my daughter is 10days old and i would like to know how long children lasts with such a disease
Denys-Drash syndrome (DDS) is a rare disorder consisting of the triad of congenital nephropathy, Wilms tumor, and intersex disorders resulting from mutations in the Wilms tumor suppressor (WT1) gene. Nephropathy is a constant feature; in the incomplete forms of the syndrome, the nephropathy coexists with either Wilms tumor or intersex disorders, but the vast majority of patients with DDS are destined to develop Wilms tumor in any residual renal tissue. The characteristic nephropathy in DDS is termed diffuse mesangial sclerosis. This condition manifests clinically as an early onset nephrotic syndrome and progresses to renal failure during the first 3 years of life. Among the intersex disorders, pure gonadal dysgenesis with male pseudohermaphroditism is the classic presentation, although a wide variety of abnormalities in gonadal differentiation can be encountered.
Mortality and morbidity are high because of the natural history of the nephropathy and the high risk of malignancies.
* Nephropathy: DDS patients develop early-onset nephrotic syndrome, high prevalence of severe hypertension, and rapid progression to end-stage renal disease (ESRD).
* Malignancy: The vast majority of patients with DDS are destined to develop Wilms tumor in the native kidneys and are at significant risk for development of gonadoblastoma in the dysgenetic gonads.
* Nephropathy: Nephrotic syndrome usually manifests in infants aged 2 weeks to 18 months. Progression to ESRD occurs within weeks to 2 years from the time of diagnosis or before the age of 3 years.
* Wilms tumor: Median age at discovery is approximately 2 years in cases associated with DDS, as opposed to 3.5 years in patients with isolated Wilms tumor without DDS.
* Intersex disorders: These conditions usually manifest at birth. (+ 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?
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.
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)
There is a slide show that also incorporates videos of the featured 'More Alike than Different' cast at the National Down Syndrome Congress website:
And great information at the National Down Syndrome Society website:
Down Syndrome Fact Sheet
You might also enjoy
Margaret's Guide to Down Syndrome
For bios of actors with Down syndrome, see:
Down Syndrome and the Acting Gene
DS in Arts and Media
Down Syndrome Links at the Family Village website
Check out this recent New York Times article:
The DNA Age: Prenatal Test Puts Down Syndrome in Hard Focus
Have fun with your research!
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?
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.
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?
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 ?
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?
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
What are the chances of my children having Tourette syndrome?
Im planning to have a family in the future. Both of us dont have this syndrome. However, her mother does from her grandpa. Only blinking eyes. What are the chances of passing this on? Also, if it is passed on would it only be blinking eyes or could it be other symptoms of this same syndrome?
Were you aware that there is a National Tourette Syndrome Association? I would suggest contacting them and asking these questions. (+ info
What are the complications if a person has nephrotic syndrome and gets cancer?
My wife has nephrotic syndrome (a kidney disease) and the doctor, due to recent blood test findings, believes she has cancer. Are there any complications that could come from having the syndrome and having to now fight cancer.
This is a dillematic situation - so far that I can say. Kidney cancer is a rare type of cancer. To treat cancer, doctor would suggest chemo/radiation/surgery... depends on the stage.
Does the disease affect both kidneys or only one? All chemo drugs are very strong, I'm afraid cannot be applied to your wife, given that her kidney is the one who has problem.
However, I believe that your doctor will know the best of her condition, hence can determine best treatment (maybe kidney transplantation?). '
In the mean time, it's important that your wife change to a healthy lifestyle, healthy food and enough rest. Good luck. (+ info
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