Edwards syndrome, also known as Trisomy 18, is a genetic disorder caused by the presence of an extra copy of chromosome 18 in the cells of an individual. This condition is named after John Hilton Edwards, the physician who first described it in 1960. Trisomy 18 is characterized by a wide range of physical and developmental abnormalities, leading to severe intellectual and physical disabilities.
Synonyms for Edwards syndrome include Trisomy 18 syndrome and T18. These terms are often used interchangeably to refer to the same condition. Trisomy 18 syndrome is derived from the genetic abnormality where there are three copies of chromosome 18 instead of the usual two. T18 is an abbreviation commonly used in medical literature and discussions.
Individuals with Edwards syndrome typically experience multiple congenital anomalies affecting various organ systems. These can include heart defects, kidney malformations, clenched fists with overlapping fingers, rocker-bottom feet, and a small, abnormally shaped head. Additionally, affected individuals may have intellectual disabilities, feeding difficulties, and growth retardation.
The prognosis for individuals with Edwards syndrome is generally poor, with a majority of affected pregnancies resulting in miscarriage or stillbirth. Those who survive beyond birth often face significant medical challenges and have a reduced life expectancy. The condition requires comprehensive medical care and support to manage the associated health issues and improve the quality of life for affected individuals.
In conclusion, Edwards syndrome, also referred to as Trisomy 18 or T18, is a genetic disorder characterized by multiple physical abnormalities and intellectual disabilities. It is important to raise awareness about this condition to promote early diagnosis, appropriate medical interventions, and support for affected individuals and their families.