DOWN SYNDROME
(Trisomy 21)
What is Down Syndrome?
Down syndrome is a genetic disorder and the most common autosomal chromosome abnormality in humans, where extra genetic material from chromosome 21 is transferred to a newly formed embryo. These extra genes and DNA cause changes in development of the embryo and fetus resulting in physical and mental abnormalities.
Who discovered Down Syndrome?
John Langdon Haydon Down, a British physician, was the first person to observe Down syndrome as a special kind of mental disability. Though he only observed the symptoms and outcome of the disease, largely emphasizing on the mental affects and not the physical cause and reasons of the disease, the discovery of Down syndrome is mostly credited to him. In fact, the syndrome was named after him.
How is Down Syndrome diagnosed?
Down syndrome is diagnosed one of two ways, either during pregnancy or shortly after birth. The diagnosis is always based on the presence of an extra number 21 chromosome (a picture of an individual's chromosomes).
Signs and Symptoms of Down Syndrome
There are estimated to be over 100 characteristics of Down syndrome. Common characteristics of Down syndrome can include:
- A flat facial profile
- An upward slant to the eye
- A short neck
- Abnormally shaped ears
- White spots on the iris of the eye (called Brushfield spots)
- A single, deep transverse crease on the palm of the hand
- Smaller than average size
- Exaggerated space between the first and second toe
- Poor muscle tone (called hypotonia)
- Joint looseness
- Broad feet with short toes
- Learning disabilities.
Treatment for Down Syndrome: An Overview
Because it is a problem with the chromosomes, there are no cures for Down syndrome. Therefore, treatment for the condition focuses on controlling symptoms and any medical conditions that result because of Down syndrome.
Treatment for Down syndrome can include:
- Regular checkups and screening
- Medications
- Surgery
- Counseling and support.
National Down Syndrome Society
The National Advocate for People with Down Syndrome Since 1979
Email: info@ndss.org
Website: http://www.ndss.org/
Location: 666 Broadway, 8th Floor, New York, NY, 10012
Phone: 800-221-4602