Edwards

From WikiMD's medical encyclopedia

Edwards is a surname of English and Welsh origin. In the context of this article, it refers to Edwards syndrome, a genetic disorder caused by the presence of all or part of an extra 18th chromosome.

Overview

Edwards syndrome, also known as Trisomy 18, is characterized by a variety of medical and developmental problems, including abnormalities in the heart, brain, and other organs. The severity of the condition can vary widely among individuals, ranging from life-threatening complications to mild health problems and learning disabilities.

Causes

Edwards syndrome is caused by the presence of an extra chromosome 18, which can occur in three forms: full, mosaic, and partial. In full Trisomy 18, an individual has three copies of chromosome 18 in all cells. In mosaic Trisomy 18, an individual has three copies of chromosome 18 in some cells but not others. In partial Trisomy 18, an individual has an extra part of chromosome 18.

Symptoms

The symptoms of Edwards syndrome can vary widely among individuals. Common symptoms include growth deficiency, heart defects, respiratory problems, and developmental delays. Other symptoms can include clenched hands, low-set ears, a small head (microcephaly), and a small jaw (micrognathia).

Diagnosis

Edwards syndrome can be diagnosed through a variety of tests, including prenatal testing such as amniocentesis or chorionic villus sampling. After birth, a diagnosis can be confirmed through a blood test that examines the child's chromosomes.

Treatment

There is no cure for Edwards syndrome, but treatment can help manage the symptoms. Treatment options can include physical therapy, occupational therapy, and speech therapy. In some cases, surgery may be needed to treat heart defects or other physical abnormalities.

Prognosis

The prognosis for individuals with Edwards syndrome can vary widely. Some individuals may live into adulthood, while others may not survive past infancy. The severity of the condition and the presence of other health problems can greatly affect an individual's life expectancy.

See also

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Contributors: Prab R. Tumpati, MD