Down

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 the following 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 variety of medical and developmental issues, including heart defects, hearing and vision problems, Alzheimer's disease, childhood leukemia, and chronic constipation.

Diagnosis

Down Syndrome can be identified during pregnancy by prenatal screening followed by diagnostic testing, or after birth by direct observation and genetic testing. Since the introduction of screening, pregnancies with the diagnosis are often terminated.

Treatment

There is no cure for Down Syndrome. Education and proper care have been shown to improve quality of life significantly. 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

• Chromosome
• Prenatal screening
• John Langdon Down
• Trisomy 21

External links

• Medical encyclopedia article on Down
• Wikipedia's article - Down

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