Symptoms and Signs of Trisomy 18 (Edwards Syndrome)

Medical Author: John P. Cunha, DO, FACOEP
Medically Reviewed on 3/11/2019

Doctor's Notes on Trisomy 18 (Edwards Syndrome)

Trisomy 18 (Edwards syndrome) is a severe genetic disorder where patients have an extra copy of chromosome 18. Trisomy 18 leads to severe intellectual disability and abnormalities in many organs. The prognosis of trisomy 18 is poor. Half of those affected do not live beyond the first week of life and a low percentage of infants with this condition live beyond the first year.

Common symptoms of trisomy 18 (Edwards syndrome) include birth defects such as low birth weight, small jaw and mouth; abnormally shaped, small head; overlapping fingers and clenched fists; “rocker-bottom” feet, low-set ears, and defects in the heart and other organs. Symptoms of trisomy 18 in infants who survive include poor feeding, respiratory problems, delayed growth, mental impairment, and other life-threatening complications.

REFERENCE:

Kasper, D.L., et al., eds. Harrison's Principles of Internal Medicine, 19th Ed. United States: McGraw-Hill Education, 2015.