Edward’s Syndrome – Chromosomal Condition

Edward’s Syndrome also known as trisomy 18 is a chromosomal condition which is associated with abnormalities in several areas of the body.Individual with this condition often have a slow growth before birth or intrauterine growth retardation and a low birth weight.

In most cases of Edward’s syndrome, the child develops three types of chromosome 18 in each cell of their body instead of the normal two. In normal condition, each cell in the body contains 23 pairs of chromosomes which carry the genes inherited from their parents and the extra genetic contents in Edward’s syndrome tends to disrupt the baby’s normal development process.

Other features include a small abnormally shaped head, a small jaw and mouth and clenched fists with long fingers that overlap with short fingernails, low set ears, and smooth rocker bottom feet.Due to the presence of some life threatening medical problems, nearly three quarters of the infants with syndrome are miscarried or stillborn and the ones who tend to survive beyond a year will have a developmental and intellectual disability.

Several Abnormalities with slow growth

The child with this condition tends to grow slowly in the womb and will have a low birth weight. Doctors may get to know that the baby has Edward’s syndrome by checking their characteristic features though this conditions must go through the genetic tests.

They also tend to have heart defects with abnormalities of other organ which develop before birth like kidney problems, feeding problems in infancy resulting in poor growth, breathing problems, hernias in the wall of the stomach where internal tissues push through a weakness in the muscle wall, frequent infections of the lungs as well as urinary system, bone abnormalities like a curved spine, and severe learning disability.

Rarely Inherited, Occurs Randomly 

Trisomy 18 is rarely inherited and usually occurs randomly during the formation of eggs and sperm where there is an error in the division of cells and the extra chromosome is either in the egg cell of the mother or in the sperm cell of the father and since it takes place randomly, it is extremely unlikely for parents to have more than one pregnancy affected by this condition.

There are different types of Edward’s syndrome such as Full form wherein around 94 percent of the babies with this condition tend to have the full form of this disease with each cell having three copies of chromosome 18 instead of the usual two and most of the babies with full form type die before infancy. In Mosaic trisomy 18, about five percent of the babies have the extra copy of the chromosome 18 in only some of their body cells and it is a less severe form of the disease.

The severity of this type of syndrome depends on the type and number of cell which have the extra chromosome. In this case some babies may only be affected mildly while some may be severely disabled. In Partial trisomy 18, babies with this type of syndrome will have an extra copy of only a part of chromosome 18 and the severity of partial trisomy 18 may depend on the amount of chromosome contents that is triplicated where some may be mildly affected while others may be severely disabled.