Trisomy 18 Syndrome
Trisomy 18 Syndrome is also known as Edwards Syndrome and E Trisomy.
This is a syndrome of multiple congenital malformations associated with trisomy of chromosome no. 18. This syndrome is more severe than Down syndrome with affected infants dying at an early age.
Clinically, affected infants with trisomy 18 have the following features:
– failure to thrive
– mental retardation
– malformed low set ears
– small mandible
– flexion deformities
– overlapping of fingers
– hypertonicity
– “rocker bottom ” deformity of the foot
The incidence of this trisomy 18 is approximately 1:6500 live births with a 3:1 female to male sex ratio.
The mean paternal and maternal ages are elevated in the syndrome and it is the elevated maternal age which is etiologically significant.