What makes Edwards Syndrome a rare genetic disorder

Overview:

Edward’s syndrome, named after the doctor who first described it, is a condition which causes extreme developmental delays owing to the presence of an extra chromosome 18 in the DNA. Also known as Trisomy 18, this condition is basically a chromosomal abnormality and quite rare. However, it is an extremely serious genetic condition that leads to a wide range of medical problems. It is the second most common trisomy condition after Trisomy 21 or Down Syndrome. Sadly enough, most babies who are born with Edward’s syndrome die within the first week of life. Very few of the affected babies live beyond that. So, it is very important to learn more about this rare but extremely fatal genetic condition.

What is Edward’s Syndrome:

Edward’s syndrome is a rare condition which occurs if your baby is born with an extra chromosome 18. Babies who have this genetic condition are born with distinct clinical features like developmental delay and abnormalities of the heart, kidneys, limbs, and craniofacial. Chromosomes are threadlike structures present in our cells that carry our genes. And genes in turn carry all the instructions required to make every part of the baby’s body. A trisomy implies that there is an extra chromosome in some or all of the baby’s body cells. So, instead of the regular double count, the baby will have three copies of the chromosome 18. This will make the development of the baby’s organs abnormal.

Types of Edward’s Syndrome:

Edward’s syndrome or Trisomy 18 can be of three types. Though, babies with full trisomy rarely ever survive beyond one year of life, babies with mosaic or partial trisomy may survive beyond that and enter into adult adulthood. Physical and mental disabilities are going to accompany them though.

• Full trisomy 18: This implies that the extra chromosome 18 is present in every cell in the baby’s body. This is so far the most common type of trisomy 18.
• Partial trisomy 18: In this case, only a section or partial amount of the additional chromosome 18 is present in the baby’s body cells. This extra portion may be found attached to some other chromosome in the egg or sperm. This is known as translocation, This particular type is very rare.
• Mosaic trisomy 18: This is a much less severe form of Edward’s syndrome. In this type, only some of the cells contain the extra chromosome 18 instead of every cell. Most of the babies born with this type go on to survive for a minimum of one year. They can also grow up into early adulthood.

Symptoms of Edward’s Syndrome:

Babies with Edward’s Syndrome are born with a wide range of physical problems. They have multiple health problems and the physical symptoms include:

• Clenched fists, underdeveloped thumbs and long, overlapping fingers which are difficult to straighten.
• Cleft palate i.e. an oral malformation and a split in the roof of the mouth.
• Feeding troubles
• Low-set ears
• Defects of the kidneys, stomach, intestines and lungs
• Small, abnormally-shaped head (microcephaly)
• Less birth weight
• Small, abnormal shape of the jaw (micrognathia)
• Smooth feet with rounded soles
• Extreme developmental delays
• Deformed feet also known as rocker-bottom feet as they are shaped like the bottom of a rocking chair
• Slowed-down growth
• Weak cry
• Heart defects
• Exomphalos i.e. the intestines are carried in a sac outside the tummy
• Breathing problems
• Abnormalities in the bone structure i.e. a curved spine
• Regular infections of the lungs and the urinary system
• Hernias in the stomach wall
• Learning disabilities

Causes of Edward’s Syndrome:

• When an egg fuses with a sperm and forms an embryo, their chromosomes get combined. Each baby receives 46 chromosomes in total, 23 from the mother’s egg and 23 from the father’s sperm. So, each cell in your body normally will have 23 pairs of chromosomes which determine your genetics.
• But in certain cases, the mother’s egg or the father’s sperm could contain the wrong number of chromosomes. And during the fusion of the sperm and egg, this mistake is passed onto the embryo. Such babies may have an extra chromosome just like in the case of a trisomy.
• Trisomy 18 implies that the baby has three copies of the chromosome number 18 instead of the regular two. The presence of this extra chromosome hampers the normal development of the baby.
• Edward’s syndrome is hardly inherited and not dependent on the parent’s actions. This development of an extra chromosome generally happens at random when the egg or sperm forms.
• Because of the random tendency, it is very rare that parents experience more than one pregnancy affected by this syndrome. However, the chances of having a baby with trisomy 18 increase as the mother ages.

Treatment for Edward’s Syndrome:

There is no cure for Edward’s syndrome essentially and the symptoms could be quite difficult to manage. One would need help from a whole army of health professionals to deal with it. The treatment and management of the symptoms is dependent upon the severity of the condition. There is a high mortality rate among such babies and a very meager percentage lives beyond the first year. The major cause of death in affected babies is neurological instability, cardiac failure, and respiratory failure. These can happen all of a sudden. However, the children who do survive the first year of life require appropriate treatment.

• Treatment is focused on the immediate life-threatening issues at hand like infections and heart problems. The child may also be needed to be fed through a feeding tube. Depending on the child’s specific health issues, he/she may need specialist care in hospital or at home with the correct supportive medical care.
• Limb abnormalities may be helped by physiotherapy and occupational therapy.
• Poor abdominal muscle tone of such children leads to constipation issues. Anti-gas medicines, laxatives, special milk formulas and stool-softener medications help to ease the discomfort of gas-y bowels and constipation.
• Such children exhibit extreme developmental delays. That can be helped with special education and therapy programs right from an early stage.
• Children with Edward’s syndrome have a greater risk of developing Wilm’s tumor i.e. a cancer of the kidney. So, such kids should be subjected to regular ultrasound examinations.
• Abnormalities like club foot, facial clefts, hydrocephalus etc. could be treated with surgical intervention.

Prevention of Edward’s Syndrome:

Most types of Edward’s syndrome cases are not hereditary. So, they cannot be prevented. To date, there is no scientific evidence as to what a parent could have done to cause or prevent trisomy 18 in their baby. So, this is a chromosomal error that is considered to be random. However, technological advancements like prenatal screening kits, genetic testing for pregnant women or testing cells from the amniotic fluid i.e. amniocentesis help to analyze the chromosomes. This can result in the early detection of the disease.

Conclusion:

It is very important for pregnant mothers to indulge in early detection tests with their doctors. Because of the high risk of fatal demise and early postnatal death associated with Edward’s Syndrome, parents are aided by support groups to be prepared for the worst. Even if the child survives, caring for such a child is both physically and mentally challenging for the parents. A wide range of medical services are needed to ensure the best quality of life possible for the child. But with the correct social and psychological support for the parents and the proper treatment of the child, it is possible to give the child a happy life.