Edwards Syndrome

Know more about Edwards Syndrome


Edward Syndrome is also known as Trisomy 18, trisomy E, and trisomy 16–18. Children inherit three (referred to as a, 'trisomy'), instead of two, copies of chromosome eighteen, occurs during meiosis. Edwards syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 18th chromosome, either in whole (trisomy 18) or in part (such as due to translocations)

Among prenatal tests, there are screening tests and diagnostic tests.

The majority of children born with Edward's syndrome appear both fragile and weak; many are underweight. Their heads are unusually small, while the backs of their heads are prominent. Their ears are low-set and malformed, and their mouths and jaws are small, a condition referred to as, 'micrognathia.' Babies with the syndrome may experience a cleft palate or lip. Their hands are often clenched into fists, with their index finger overlapping their other fingers. Babies with Edward's syndrome can have clubfeet, as well as toes that may be fused or webbed.


Edward's syndrome affects more girls than boys - around 80 percent of those affected are female. Women older than the age of thirty have a greater risk of bearing a child with the syndrome, although it may also occur with women younger than thirty.

Most cases of trisomy 18 are not inherited, but occur as random events during the formation of eggs and sperm. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 18.

A child with Edwards' syndrome is likely to have many medical and development needs. Parents should develop good working relationships with their doctor, other specialists, and therapists, and should consult them as needed.

If a woman gives birth to a child with Edwards' syndrome and plans to have another child, a doctor as well as a genetic counselor should be consulted so that prenatal screening and genetic counseling can be conducted.


There is no cure for Edwards' syndrome. Since trisomy 18 babies frequently have major physical abnormalities, doctors and parents face difficult choices regarding treatment.

To help prevent reflux, the baby's head should be elevated about 30 degrees or more

Trisomy 18 is almost always fatal in the first year of life, most don't live more than a few days.

Surgery can treat some of the issues related to the syndrome, yet extreme and invasive procedures might not be in the best interests of an infant whose lifespan could be measured in weeks or even days. Treatment today consists of palliative care.