Trisomy 18

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Disease Overview

Trisomy 18 is a chromosome disorder characterized by having 3 copies of chromosome 18 instead of the usual 2 copies. Signs and symptoms include severe intellectual disability; low birth weight; a small, abnormally shaped head; a small jaw and mouth; clenched fists with overlapping fingers; congenital heart defects; and various abnormalities of other organs. Trisomy 18 is a life-threatening condition; many affected people die before birth or within the first month of life. Some children have survived to their teenage years, but with serious medical and developmental problems. Most cases are not inherited and occur sporadically (by chance).[9236][853]


Synonyms

  • Chromosome 18 trisomy
  • 18 trisomy
  • Edwards syndrome
  • Trisomy 16-18 (formerly)
  • Trisomy E (formerly)

For more information, visit GARD.

National Organization for Rare Disorders