Edwards Syndrome

Edwards syndrome
Edwards syndrome

What is Edwards Syndrome?

This is a rare genetic disorder whose medical name is Trisomy 18. In 1960 John H. Edward first recorded the details of this syndrome, which was named after him. It occurs in one in six thousand live births or still births with approximately eighty percent of those being females. Most of the fetuses that have this syndrome die before they are born or are aborted. As the mother’s age increases the higher the chances are to have a baby with Edwards Syndrome. This syndrome is more severe than Downs Syndrome although it does cause mental retardation and many physical defects that can cause an early death in an infant. Edwards Syndrome is the second most common autosomal trisomy, which means three particular chromosomes instead of the normal two chromosomes.

Edwards Syndrome Symptoms

Edwards Syndrome affects all of the human body’s system organs so the symptoms vary for each system.

Brain and central nervous system

This is one of the systems that is most severely affected by Edwards Syndrome

  • Delayed brain developments
  • Mental retardation
  • Physical malformation
  • Seizures
  • High muscle tone
  • Small narrow cranium

Face and Head

  • Abnormally small jaws referred to as microganthia
  • Small head referred to as microcephaly
  • Small wide set eyes
  • Ears that are low set
  • Small mouth
  • Nose that is upturned
  • Eyelid folds that are narrow
  • Prominent back part of the head
  • Recessed chin
  • Cleft palate

Heart

  • Congenital heart defects—ninety percent of the babies suffer from this complication.
  • Atricular and ventricular septal defect
  • Patent ductus arteriosus
  • Coronary valve defect

Bones

  • Clinched fits with the second and fifth fingers overlapped on others
  • Rocker bottom feet
  • Shorten nails
  • Growth retardation that is severe
  • Webbing
  • Absent radius
  • Small pelvis
  • Short sternum

Malformations and malfunctioning of:

  • The reproductive systems
  • The urinary tract
  • The digestive tract

Other symptoms

  • Poor feeding
  • Weak crying
  • Low birth weight
  • Weakness in the infants
  • Rigidity that is extreme
  • Single umbilical artery
  • Intestines outside of their body
  • Breathing difficulties
  • Undescended testicles

Not every baby born with Edwards Syndrome will have all of these symptoms or the same symptoms.

Edwards Syndrome Causes

The cause of Edwards Syndrome is having an extra whole or part of chromosome 18. This genetic error can occur during either the sperm cell or egg formation before conception. This is not a disease that is inherited but happens randomly. This abnormality can cause more than one hundred thirty defects. Of the all the babies born with Edwards Syndrome ninety-five percent of them are considered full trisomies, which means they got the whole extra chromosome, while two percent have only a part of the extra chromosome. The other three percent has mosaic trisomies, which means that they have the extra chromosome but it is not in every one of the cells of the baby.

Diagnosis

Before the baby is born the physician can do a variety of tests such as:

  • MRI—this test is to detect any abnormalities of the fetus
  • CT scan—this test is to confirm any abnormalities in the brain
  • X-rays—this test is to confirm any abnormalities in the skeletal system
  • Genetic testing—in this type of test they use amniocentesis to confirm the diagnosis of Edwards Syndrome
  • Ultrasound—this test is also used to detect any abnormalities of the fetus

After the birth of the baby the physician can do blood tests to confirm if the baby has Edwards Syndrome along with any visible features of abnormalities in the bones and impairments in the face that are characteristic of this syndrome. The blood tests are called karyotyping and are when they are looking at the chromosomes of the baby. They use microscopy and certain stains to identify the various chromosomes and see if there is an extra chromosome 18.

If a pregnant woman has a child with this syndrome she may also have an unusually large uterus because there is extra amniotic fluid and when the child is born the placenta may unusually small.

Edwards Syndrome Treatment

At this time there is no cure for this syndrome and because of all the abnormalities associated with Edwards Syndrome the physician may have some hard decisions in regards to how to treat the baby. Most of the treatment that is done is just making the child comfortable. They should also make sure that the baby is given good food that is nutritious. Other treatments might include:

  • Making sure that infections, which can occur frequently, are treated.
  • Making sure that the parents are engaging in activities to help with better functioning of their digestive tract and heart.
  • If they are having difficulties feeding you need to make sure that they are offered alternative feedings such as using a nasogastric tube.

Life Expectancy

If the baby is born alive twenty to thirty percent die within thirty days with less than ten percent making it to twelve months. Most babies will die within one week after birth. On average, a baby born with Edwards Syndrome will live five to fifteen day. Eight percent will live more than one year with only one percent lives up to ten years of age. When a baby is diagnosed with Edwards Syndrome is advisable to do no measures to sustain their life because of all the physical and mental abnormalities the baby is born with.

Edwards Syndrome Pictures

Pictures of Edwards Syndrome…

edwards syndrome

edwards syndrome pictures

edwards syndrome pictures 2

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