Definition of Edwards Syndrome:

Also known as Trisomy 18, Edwards Syndrome is a genetic disorder caused by the presence of an additional copy of chromosome 18 in cells of an individual. This syndrome leads to a variety of physical and developmental abnormalities, often resulting in severe mental and physical disabilities.

Subtypes:

While an extra copy of chromosome 18 is the main characteristic of Edwards Syndrome, there are subtypes within this disorder that exhibit variations in the severity and types of abnormalities present.

Clinical Features:

Edwards Syndrome is associated with a range of clinical features, including:

  • Cardiac defects
  • Clenched fists with overlapping fingers
  • Cleft palate
  • Low birth weight
  • Low-set ears
  • Prominent back of the head
  • Rocker-bottom feet
  • Small jaw and mouth

Prognosis:

The prognosis for individuals with Edwards Syndrome is generally poor. Many affected babies do not survive beyond their first year of life, and those who do often experience significant developmental delays and intellectual disabilities.

Treatment:

There is no cure for Edwards Syndrome, and treatment primarily focuses on managing the symptoms and maximizing the quality of life for the affected individuals. Treatment approaches involve a multidisciplinary team of medical professionals who address specific needs, such as cardiac surgeries, feeding and breathing assistance, and supportive care.