Edwards’s Syndrome – A Rare Disease In Babies

Edwards's Syndrome A Rare Disease In Babies

Edwards's Syndrome A Rare Disease In Babies

Edward’s Syndrome, a very rare disease, diagnosed in 1 out of 3000 pregnancies, is also called Trisomy 18. It is a genetic chromosomal disorder with abnormal amount of chromosomes in the cells of babies. Normally there are 46 chromosomes in newborn babies arranged in 23 pairs. But in a diseased baby it is not a pair but three copies of chromosome 18. Diseased babies have very low survival rate, almost half dying before birth while a large percentage of those who are born, die within one year of age.

Most deaths are due to heart abnormalities and apnea. Others who survive beyond this age suffer from a host of medical problems. Definitecauses of this disease are yet to be discovered. But it is usually believed to be caused due to genetic fault in the egg or the sperm that were involved during fertilization.

Babies with this ailment have certain distinct external features like mental retardation and delayed development. They have abnormal facial appearances like small head; known as microcephaly, distinct back of skull, small lower jaw, recessed chin, small mouth, small and wide-set eyes defective ear formations like low set ears, malformed ears and posteriorly rotated ears.

Mental Retardation

Other signs are low birth weight than average healthy babies, poor feeding, weak crying, rocker bottom feet or clubfoot, clenched hands with 2nd and 5th fingers overlapping, hypoplastic nails, other hand and feet defects, small pelvis, defective limbs, extreme growth retardation.

Congenital Heart Diseases

Internally they suffer from congenital heart diseases, renal malformation, brain abnormalities, eye malformation, single umbilical artery, malformed digestive tract, genitals and urinary tract, vertebral deformities. The medical care that is extended to these patients are supportive in nature, triggering at provision of proper nutrition, treating infections and handling heart problems they may suffer from.

Low Weight At Birth

They require highly skilled medical observation during the initial months of their birth. The complex medical problems, major susceptibility to infections and increased heart defects make them incapable to survive for longer span.

There are certain medical examinations suggestive of a pregnant lady bearing a baby with Edward’s Syndrome like blood tests and disgnostic tests such as Amniocentesis or genetic testing of the amniotic fluid and Chronic villus sampling (CVS). Such babies have low weight at birth as they do not grow well in the uterus. Thus Ultrasounds of abdomen and heart and X-rays of the skeleton can detect any such abnormalities in the yet to-be born.

apara bhattacharya