What is Edwards syndrome
Edwards syndrome description. Find out what Edwards syndrome is and know more about it.
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. It is named after John Hilton Edwards, the physician who first described the syndrome in 1960.
Individuals with Edwards syndrome often experience severe developmental delays and have multiple physical abnormalities. These may include heart defects, clenched fists with overlapping fingers, a small jaw, low-set ears, and a prominent back of the head. They may also have organ malformations, such as kidney or intestinal abnormalities.
Unfortunately, Edwards syndrome is associated with a high mortality rate, and many affected individuals do not survive beyond infancy. Those who do survive often face significant intellectual and physical disabilities. Medical interventions can help manage some of the associated health issues, but there is no cure for the syndrome.
Diagnosis of Edwards syndrome is typically made through prenatal testing, such as amniocentesis or chorionic villus sampling, or shortly after birth through genetic testing. Supportive care and early intervention services can improve the quality of life for individuals with Edwards syndrome and their families.
Most cases of Edwards syndrome occur due to problems during the formation of the reproductive cells or during early development. The rate of disease increases with the mother's age. Rarely cases may be inherited from a person's parents.Occasionally not all cells have the extra chromosome, known as mosaic trisomy, and symptoms in these cases may be less severe. Ultrasound can increase suspicion for the condition, which can be confirmed by amniocentesis.
Treatment is supportive.After having one child with the condition, the risk of having a second is typically around one percent.It is the second-most frequent condition due to a third chromosome at birth, after Down syndrome.
Edwards syndrome occurs in around one in 5,000 live births. Some studies suggest that more babies that survive to birth are female. Many of those affected die before birth. Survival beyond a year of life is around 5–25%.It is named after John Hilton Edwards, who first described the syndrome in 1960.
Posted Feb 18, 2018 by Federica 3600
