Edwards syndrome – Trisomy 18

Edwards syndrome (trisomy 18) is a genetic disorder produced by the presence of an extra chromosome 18. It is the second most common autosomal trisomy after Down syndrome.

The prevalence is estimated at 1 in 6,000 births. Life expectancy is limited: mortality is around 60% in the first week of life and reaches 94-95% between the first and second year of life. Babies with Edwards may have a number of serious medical problems for which they require specialized care.

Similar to Down syndrome, Edwards syndrome is more frequent in mothers with advanced age: after 35 years the incidence progressively increases from 1/2,500 live births at age 36 years to 1/500 at age 43 years.

Most frequent clinical findings in patients with Edwards syndrome:

  • Small head
  • Low birth weight
  • Neonatal hypotonia followed by hypertonia
  • Delayed growth
  • Congenital heart defects
  • Craniofacial anomalies
  • Neurological problems

Additional information

Internationaltrisomyalliance.com – International Trisomy 13/18 Alliance

Orpha.net – The portal for rare diseases and orphan drugs