Edward’s Syndrome: Symptoms and Causes
Medikoe Health Expert
Koramangala, bengaluru, karnataka, india, Bengaluru Feb 10, 2018
It is also known as Trisomy 18 and it is the second most common trisomy behind Trisomy 21 (Down syndrome). It is caused by the presence of an extra chromosome 18 and it is seen more commonly with increasing maternal age. It occurs in 1 in 5000 live births. Half of the babies born with Edwards’s syndrome die within the first week, and only 5% to 10% live beyond the first year of life.
It can be characterized by severe psychomotor and growth retardation, microcephaly, microphthalmia, malformed ears, micrognathia or retrognathia, microstomia, distinctively clenched fingers, and other congenital malformations. It affects more girls than boys. Edward's syndrome was named after Dr. John Edward.
There are three types of trisomy 18:
Full trisomy 18: the extra chromosome is in every cell in the baby’s body.
Partial trisomy 18: the child has only part of an extra chromosome 18. That extra part may be attached to another chromosome in the egg or sperm.
Mosaic trisomy 18: the extra chromosome 18 is only in some of the baby’s cells.
Cells in the human body contain 23 pairs of chromosomes that are inherited from the person’s parents. The extra material from chromosome eighteen, obtained after the egg is fertilized, is responsible for causing Edward’s syndrome. Children with this syndrome have an incorrect number of chromosomes.
Most children appear both fragile and weak and many are underweight. Their heads are unusually small, while the backs of their heads are prominent. Their ears are low-set and malformed, and their mouths and jaws are small. They may experience a cleft lip or palate. Their hands are often clenched into fists, with their index finger overlapping their other fingers. They may have club feet, as well as toes that may be fused or webbed.
They can experience problems with their lungs and diaphragm, and blood vessels which are malformed. They may have an inguinal or an umbilical hernia, abnormalities of their urogenital system, malformed kidneys, or undescended testicles if they are male.
It can be diagnosed by the physical abnormalities that are characteristic of the syndrome. A physical examination of children can show arched-type fingerprint patterns.
Karyotyping is done for the examination of their chromosomes. It can be detected prior to the birth of the child. Potential testing includes maternal serum alpha-fetal protein analysis, amniocentesis, ultrasonography, and chronic villus sampling. A pregnant woman with a child who has Edward’s Syndrome may have the uncommonly large uterus because of the presence of extra amniotic fluid. An unusually small placenta might be noted during the birth of the child.
The cure for Edward’s syndrome is not found. Surgery can treat some of the issues related to the syndrome. Treatment consists of supportive medical care to provide the child with the best quality of life possible.