Edwards

Edwards Syndrome

Edwards Syndrome (pronounced: ed-wardz sin-drohm), also known as Trisomy 18, is a genetic disorder caused by the presence of an extra 18th chromosome. The syndrome is named after the British geneticist John Hilton Edwards, who first described the condition in 1960.

Etymology

The term "Edwards Syndrome" is derived from the name of the British geneticist John Hilton Edwards. The term "Trisomy" refers to the presence of an extra chromosome, in this case, the 18th chromosome.

Symptoms

Edwards Syndrome is characterized by a number of physical abnormalities and severe developmental delays. These may include heart defects, kidney problems, and abnormalities in the structure of the hands and feet. Other symptoms may include micrognathia (small jaw), microcephaly (small head), clenched hands, and low-set ears.

Diagnosis

Diagnosis of Edwards Syndrome can be made prenatally through amniocentesis or chorionic villus sampling. Postnatal diagnosis is usually made through a simple blood test that can detect the extra chromosome.

Treatment

There is no cure for Edwards Syndrome. Treatment is supportive and depends on the specific symptoms and severity in each individual. This may include physical therapy, occupational therapy, and special education services.

Prognosis

The prognosis for individuals with Edwards Syndrome is generally poor, with many infants not surviving past the first year of life. However, a small number of individuals with less severe forms of the condition may live into adolescence or early adulthood.

Related Terms

External links

Medical encyclopedia article on Edwards
Wikipedia's article - Edwards

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