What is Edward’s Syndrome?
Edward’s syndrome is a genetic disorder, also known as Trisomy 18. This is the most common autonomic trisomy where a child is born with three copies of chromosome 18 instead of the usual two. Usually, a healthy sperm or egg contains individual chromosomes with each contributing to 23 pairs of chromosomes.
At times, numerical errors arise during the meiotic division resulting in the non-disjunction of the chromosome leading to the making of an extra chromosome. Thus the total number of 23 pairs of chromosomes becomes a haploid number 24. This results in the making of three copies of the chromosome rather than two when the fertilization of the sperm and egg containing an extra copy takes place.
Variations In Edward’s Syndrome
At times, only some of the body cells consist of an extra copy of the chromosome. This results in the mixed population of cells with different number of chromosomes. This condition is called as mosaic Edward’s Syndrome. In such cases, the person has only partial trisomy and thus has fewer abnormalities than that in the typical Edward’s Syndrome.
Symptoms of Edward‘s Syndrome
Children suffering from the Edward’s Syndrome will vary on the features and the problems that they might face. Usually, the child will have a small face, small jaw and mouth, upturned nose, widely spaced small eyes with narrow eyelid folds, drooping upper eyelids, and low-set, malformed ears etc. further, the hands of such a child might be clenched with the second and the fifth fingers overlapping other fingers.
Webbing may also be found in the second and third toes of the feet. Other than these deformations, other body structures may also be affected. Heart, kidneys, brain, digestive tract and genital may all be malformed, giving problem to the child while feeding, breathing and the daily development in general. Lung and urinary infections are common amongst kids suffering from Edward’s Syndrome.
Apart from these, other features that might be found are Arthrogryposis (a muscle disorder that causes multiple joint contractures at birth), Developmental delays ,Mental retardation ,Undescended testicles in males ,Prominent back portion of the head , Cleft lip/Cleft palate, drooping of the upper eyelids (ptosis), underdeveloped or absent thumbs and nails, absent radius, clubfoot or rocker bottom feet, small pelvis with limited movements of the hips, short breastbone and intestines protruding outside the body (omphalocele).
Who's affected?
The rate of occurrence for Edwards Syndrome is one in every three thousand conceptions. Out of these, one in six thousand live births are perceived as fifty percent of them die in the womb itself. Eighty percent of those affected are found to be females. Usually, most of the babies suffering from Edward’s Syndrome die before their birth. It is more likely that children suffer from this syndrome if the mother is conceiving the baby at older age, that is around and after the age of 32, though younger mothers too can conceive babies with Edward‘s Syndrome.
Diagnosis of Edward’s Syndrome
One can diagnose the Edward’s Syndrome even while performing an ultrasound on the development of the child, which can be further proved by performing a genetic test by amniocentesis. At birth, the physical traits of the baby will help identify with the disease and confirmed after genetic testing.
Treatment of Edward’s Syndrome
The Edward’s Syndrome is untreatable, though medical treatment can be provided to abate the symptoms of the disease. The treatment should be focused on providing good nutrition and tackling the frequent infections, while also working towards keeping the heart healthy. Parents and other family members would need enormous emotional support as the babies suffering from Edward’s Syndrome bare survive beyond their first year.
What is the survival rate in Edward’s Syndrome?
The survival rate is very low in the Edward’s Syndrome as half of them die while in the womb. Of those born, fifty percent die within two or three months of their birth, while others die by the time they enter their first year. Usually the deaths are due to malformations of heart.
