Edward Syndrome, also known as Trisomy 18, is a genetic disorder in which there is a third copy of chromosome 18 due to a random error in cell division. Edward syndrome is second in frequency to Down Syndrome.

Like those with Patau Syndrome, only 5-10% live past their first year, with more girls surviving than boys. It occurs in 1:6,000 births. However, 1:2,500 pregnancies have Edward Syndrome. The chance of miscarriage is high with this disorder.

Risk Factors

Edward Syndrome typically is a random occurrence with the risk increasing with maternal age.

Symptoms

Symptoms of Edward Syndrome vary from person to person, and range in severity, but generally include:

  • Heart defects
  • Slow growth
  • Low birth weight
  • Small/abnormally shaped head
  • Small jaw/mouth
  • Clenched fists with overlapping fingers
  • Developmental delay
  • Microcephaly
  • Small eyes
  • Malformed ears
  • Kidney malformation
  • Esophageal atresia (no connection of the esophagus to the stomach)
  • Umbilical hernia
  • Drooping inner eyelids
  • Undescended testes

Diagnosis

Similar to other trisomy disorders like Down Syndrome and Patau Syndrome, there are several ways to obtain a definitive diagnosis of Edward Syndrome. A preliminary diagnosis can be made based on the physical characteristics, but a genetic test done via amniocentesis before birth, or testing after birth is used to confirm the diagnosis. A non-invasive ultrasound can also be used to visualize changes during pregnancy. Other tests include EKG, x-rays, and other testing to be specific to the individual’s symptoms.

Treatment

Treatments for Edward Syndrome are typically palliative as there is no cure. Symptomatic treatment includes feeding tubes, surgery (to fix heart defects, esophageal atresia, hernia, etc), and physical therapy.

Life Expectancy

The typical life expectancy is approximately 1-2 weeks. Less than 10% live to 1 year old. Approximately 1% live to 10 years old.

Don’t forget to leave a comment.

Resources:
Marchofdimes.org
nationaldb.orgtrisomy18.org
rarediseases.org
symptomstreatment.org

The information in this article is to be used for informational purposes only. It is NOT to be used in place of, or in conjunction with, professional medical advice. Anyone with questions regarding this or other medical issues discussed on this site must consult their physician for further information and treatment.

   
Please follow and like us:

Important This site makes use of cookies which may contain tracking information about visitors. By continuing to browse this site you agree to our use of cookies.