Home Genetic disorders Edwards syndrome: causes, symptoms and life expectancy

Edwards syndrome: causes, symptoms and life expectancy

by Alivia Nyhan
Published: Last Updated on

Edwards syndrome is an anomaly described by John Edwards, a doctor at the University of Wisconsin who published his results on this alteration in 1960. It is a type of congenital disease that affects the baby, presenting many complications where its life is concerned. It is currently one of the leading causes of abortion and the death of a baby at birth. This syndrome appears in 1 out of 6000 babies only in the United States and is also called Trisomy 18, being a disease very little known to people. In the following FastlyHealarticle, we will tell you all about Edwards Syndrome: causes, symptoms, and life expectancy and, in this way, expand your general knowledge about the most common syndromes today.

What is Edwards syndrome?

Edwards syndrome is also called trisomy 18; it is an alteration that affects the genetic development of the baby, producing multiple congenital alterations. The baby has a third copy of chromosome 18, usually two.

It is one of the most common types of chromosome alteration today, second only to Down syndrome. In general, the diagnosis is made during pregnancy; this is done by the specialist through an ultrasonic physical examination or amniocentesis, detecting various types of abnormality.

Chromosomes are part of the component of the cell and, therefore, contain genetic information being altered. During cell division in the postnatal stage, an error occurs, causing an extra chromosome leading to Edwards syndrome.

Causes of Edwards syndrome

The causes of Edwards Syndrome or trisomy 18 are still unknown, so it is still under investigation. Although the chromosome change occurs during egg formation, it is unknown why it happens. Cases have been seen in which it occurs due to genetics since at least one parent has a chromosomal abnormality and transmits it to the child. However, this is rare. In other cases, it can occur during conception and not during egg formation.

The moment that the fertilization of these affected cells occurs is when Edwards Syndrome occurs. Epidemiologically, it has been seen that this disease is more frequent when the mother fertilizes a baby at advanced ages, that is, after the age of 30. However, it has also been seen in younger women, but an association with older women has been shown.

Edwards syndrome: symptoms

The Edwards syndrome or trisomy 18 is characterized by a large number of clinical pictures, which are:

  • There is a delay in development, both in the prenatal and postnatal stages.
  • Reduced muscle tone
  • Craniofacial malformations: at least babies born with this condition have reduced cranial and brain size, malformation of the ears, small jaw, prominence at the back of the head, etc.
  • Gastrointestinal malformations: like an ectopic pancreas.
  • Congenital cardiovascular disorders.
  • Neurological malformations.
  • Trouble breathing
  • Feeding problems
  • There may be fewer fingers or more fingers.
  • Cysts in the umbilical cord.
  • Alteration of the shape of the breast.
  • Mental and motor skills retardation.

Edwards syndrome treatment

Currently, there is no treatment to cure Edwards syndrome. The only thing that is done is to treat the secondary complications. The motor problems of the child are affected, and surgical procedures can be considered. However, the life of the baby is even more compromised because there are cardiac alterations.

Children with this problem will generally require treatment to:

  • Seizures
  • Ear and eye infections.
  • Pneumonia.
  • Hydrocephalus
  • Apnea.
  • Blood pressure.
  • Congenital heart disease.
  • Urinary tract infections

Edwards syndrome: life expectancy

It is not very compatible that the baby born with this syndrome survives. Statistics confirm that babies die within the first week, and it is the leading cause of abortions today. Epidemiologically, it has been shown in other cases that only 10% of children with Edwards syndrome survive only until the first year of life, treating pre-existing conditions.

Some drinkers manage to survive this syndrome, but present, in addition to all the signs and symptoms mentioned above, severe mental retardation, which does not allow them to carry out their activities as a healthy children. Some survive until adolescence but present these conditions that we have mentioned.

This article is merely informative. At FastlyHeal .com, we do not have the power to prescribe medical treatments or make any diagnosis. We invite you to see a doctor if you present any condition or discomfort.

If you want to read more articles similar to Edwards Syndrome: causes, symptoms, and life expectancy, we recommend that you enter our Genetic Disorders category.

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