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.
Edward Syndrome typically is a random occurrence with the risk increasing with maternal age.
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
- Small eyes
- Malformed ears
- Kidney malformation
- Esophageal atresia (no connection of the esophagus to the stomach)
- Umbilical hernia
- Drooping inner eyelids
- Undescended testes
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.
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.
The typical life expectancy is approximately 1-2 weeks. Less than 10% live to 1 year old. Approximately 1% live to 10 years old.
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