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Down Syndrome

What is Down Syndrome?

Down syndrome is a disorder originating from an additional 21st chromosome.

 

Down syndrome is a disorder originating from an additional 21st chromosome.
Acknowledgement of Down Syndrome has not been added yet.
Synonyms for Down Syndrome has not been added yet.
Normally, at the time of conception a baby inherits genetic information from its parents in the form of 46 chromosomes: 23 from the mother and 23 from the father. In most cases of Down syndrome, however, a child gets an extra chromosome - for a total of 47 chromosomes instead of 46. It's this extra genetic material that causes the physical and cognitive delays associated with Down Syndrome.
Characteristics typically include, but are not limited to a flat nasal bridge, a short neck, congenial heart defects, short stature and mild to moderate developmental disabilities.
Name Description
Flat nasal bridge Flat nasal bridge
Short neck Short neck
Congenial heart defects Congenial heart defects
Short stature Short stature
Mental retardation Mental retardation
Down syndrome can be diagnosed during pregnancy or after birth.
Diagnostic tests of Down Syndrome has not been added yet
Early childhood intervention and a supportive family environment can improve the overall development of individuals with Down Syndrome.
Prognosis of Down Syndrome has not been added yet.
Name Description
P Steele For a look at the impact of one young man with Down syndrome go to www.ryanstories727.wordpress.com.
References of Down Syndrome has not been added yet.
Hi Created by BabySister
Last updated 7 Jan 2013, 07:39 AM

Posted by BabySister
7 Jan 2013, 07:39 AM

Hi, My baby brother ( Michael) (now 50 years old) has Down's Syndrome. He has been relatively healthy for most of his life but was diagnosed mid 2011 with CLL (Chronic Lymphocytic Leukemia). I thought I had all the bases covered as far as predictable illnesses were concerned but now I found out that this cancer is quite common for DS people. Any thoughts? We live in Botswana so specialised medical care means travelling to another country (sometimes South Africa and sometimes Italy or Germany). Hope to hear from you soon!

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CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
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After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

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Created by BabySister | Last updated 7 Jan 2013, 07:39 AM


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