Down Syndrome
Down Syndrome
Down Syndrome (pronounced /daʊn ˈsɪndroʊm/), also known as Trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is typically associated with physical growth delays, characteristic facial features, and mild to moderate intellectual disability.
Etymology
The condition is named after the British doctor John Langdon Down, who fully described the syndrome in 1866. The term "syndrome" comes from the Greek "σύνδρομον" (pronounced /ˈsɪndrəmɒn/), meaning "concurrence of symptoms," or "running together."
Symptoms and Characteristics
People with Down Syndrome may have some or all of these physical characteristics: a small chin, slanted eyes, poor muscle tone, a flat nasal bridge, a single crease of the palm, and a protruding tongue due to a small mouth and relatively large tongue. These individuals may also have a short neck and small hands and feet.
Causes
Down Syndrome is caused by having three copies of the genes on chromosome 21, rather than the usual two. The parent who provides the extra chromosome can be either the mother or the father. There is no known behavioral activity or environmental factor that changes the possibility of having a baby with Down Syndrome.
Diagnosis
Down Syndrome can often be diagnosed before birth by screening with ultrasound and genetic testing. After birth, the physical characteristics of Down Syndrome are often sufficient to suggest the diagnosis, which can be confirmed by genetic testing.
Treatment
There is no cure for Down Syndrome. However, education and proper care have been shown to improve quality of life. Some children with Down Syndrome are educated in typical school classes, while others require more specialized education. Some individuals with Down Syndrome graduate from high school, and a few attend post-secondary education.
Related Terms
External links
- Medical encyclopedia article on Down Syndrome
- Wikipedia's article - Down Syndrome
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