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Down Syndrome Information


Down syndrome was originally named after John Langdon Down, the British doctor who first described the condition in 1887.  In 1959 it was finally identified that the cause is from an extra chromosome of 47 instead of the usual 46.  Also called Trisomy 21, it is a condition in which extra genetic material causes delays in the way a child develops, both mentally and physically.  Current estimates effect 1 in every 800 babies.

What Causes Down Syndrome?

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, a child gets an extra chromosome 21 — for a total of 47 chromosomes instead of 46. It's this extra genetic material that causes the physical features and developmental delays associated with Down syndrome (DS).

The signs and symptoms of Down syndrome?

Even though people with Down syndrome may have some physical and mental features in common, symptoms of Down syndrome can range from mild to severe.  Usually, mental development and physical development are slower in people with Down syndrome than in those without the condition.

Intellectual and Developmental Disabilities (IDDs) is a disability that causes limits on intellectual abilities and adaptive behaviors (conceptual, social, and practical skills people use to function in everyday lives).  Most people with Down syndrome have IQs that fall in the mild to moderate range of IDDs.  They may have delayed language development and slow motor development.
 

Some common physical signs of Down syndrome include:

    •    Flat face with an upward slant to the eye, short neck, and abnormally shaped ears
    •    Deep crease in the palm of the hand
    •    White spots on the iris of the eye
    •    Poor muscle tone, loose ligaments
    •    Small hands and feet

There are a variety of other health conditions that are often seen in people who have Down syndrome, including:
    •    Congenital heart disease
    •    Hearing problems
    •    Intestinal problems, such as blocked small bowel or esophagus
    •    Celiac disease
    •    Eye problems, such as cataracts
    •    Thyroid dysfunctions
    •    Skeletal problems
    •    Dementia—similar to Alzheimer’s

Source: NIH Website Facts on Down Syndrome


Additional Links for Information, Support, and Research:

 
Google Health:  https://health.google.com/health/ref/Down+syndrome

 
National Institutes of Health: Eunice Kennedy Shriver National Institute of Child Health and Human Development
http://www.nichd.nih.gov/health/topics/down_syndrome.cfm
 
Mayo Clinic:  http://www.mayoclinic.com/health/down-syndrome/DS00182

 

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