Edwards syndrome

Trisomia 18

Trisomy 18-2

Edwards Syndrome, also known as Trisomy 18, is a genetic disorder caused by the presence of an extra copy of chromosome 18 in some or all of the body's cells. This condition is marked by severe developmental delays and multiple malformations that affect nearly every organ system.

Genetics

Edwards Syndrome is caused by the presence of an extra chromosome 18. Most cases (about 90%) are caused by full trisomy 18, where the individual has three complete copies of chromosome 18 in their cells instead of the usual two. The remaining cases are due to partial trisomy 18 or mosaic trisomy 18, where only some of the body's cells have an extra chromosome 18.

Clinical Features

Individuals with Edwards Syndrome typically have distinct physical characteristics. These include a small, abnormally shaped head; a small jaw and mouth; clenched fists with overlapping fingers; and heart, lung, kidney, intestine, and stomach defects. Babies with Edwards Syndrome are often born at a low birth weight.

Prognosis

The prognosis for individuals with Edwards Syndrome is generally poor. Many fetuses with the disorder die before birth, and those who survive often live only a short time. Some children, however, may live for several years or more, often with serious disabilities.

Cancer Risk

Individuals with Edwards Syndrome have an increased risk of certain types of cancer, including hepatoblastoma, a type of liver cancer, and Wilms tumor, a type of kidney cancer.

See Also

• Trisomy
• Genetic disorder
• Chromosome 18

Further reading

• Genetic counseling
• Chromosomal disorders

External links

• NHS - Edwards Syndrome
• Trisomy 18 Foundation

Edwards syndrome Resources
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