Edward Syndrome, Chromosomal Abnormalities in Babies that need to be watched out

Edward Syndrome, Chromosomal Abnormalities in Babies that need to be watched out

Edward Syndrome, Chromosomal Abnormalities in Babies that need to be watched out

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Edward Syndrome, Chromosomal Abnormalities in Babies that need to be watched out

Hearing a syndrome called "Edward" might make some people wonder what kind of illness it is. Yes, Edward's syndrome was indeed named after its founder, John Hilton Edward, in 1960. Edward's syndrome is a disorder that occurs due to abnormalities in the number of chromosomes that occur since the fetus is still in the womb.

Increasing the birth rate of babies with congenital abnormalities makes many researchers vying to uncover the origins of Edward's syndrome. What happens to babies born with a disease also known as trisomy 18? Check out the review below.

What is Edward syndrome?

Under normal circumstances, humans have 23 chromosomes in each body cell (46) consisting of 22 pairs of body chromosomes and a pair of sex-determining chromosomes. Edward syndrome is a disorder when there is an additional one chromosome on the 18th chromosome pair due to a problem during conception.

In other words, the person has trisomy (tri = three) 18 and the total chromosome number is 47. This syndrome is estimated to occur in 1 in about 6,000 live births.

Symptoms and signs of Edward syndrome

People with Edward syndrome show a variety of symptoms that can be seen, both as a baby and when the child has grown.

1. Microsefali

Babies born with this disorder have an average head size (microcephaly) compared to normal people of their age. This abnormal head size can later affect the child's growth and development.

2. Lower ear position

Apart from the size of the head, the position of the ear of the child with this syndrome is also abnormal. In most people, the height of both ears averages parallel to the eye position. In this syndrome, the position of the ear is below the eye line so it is known as low-set ears.

3. The fingers overlap

Finger abnormalities are one of the characteristics of this fairly rare syndrome. Can be found overlapping on the patient's fingers, for example between the index and middle fingers overlapping each other.

4. Heart abnormalities

The heart defect that commonly occurs in this syndrome is the incomplete wall between the porch and the heart chamber, also known as the leaky heart.

5. Disorders of growth and development

The life expectancy of a baby with Edward syndrome is relatively small. When babies grow up to be children, there is usually a delay in growth and development, when compared to people in general. In terms of intellectuals, the average person has mental retardation with an IQ below normal and has cognitive developmental disorders.

How do doctors diagnose Edward's syndrome?

This disorder can be diagnosed both when the baby is still in the womb (prenatal) and after birth (postnatal).

Prenatal diagnosis

Detection of Edward's syndrome when a baby is still in the womb can be done by analyzing the amniotic fluid of the mother so that certain genetic disorders can be identified.

Postnatal diagnosis

In addition to observing physical abnormalities and tracing the history of child development that leads to this disease, a definite diagnosis can be made using chromosome analysis which indicates an addition to the 18 chromosome pair.

Is there a treatment for Edward syndrome?

Until now, experts have not found a treatment to cure Edward's syndrome. This is difficult because this disease is caused by genetic factors so that various kinds of abnormalities have been formed from the womb. Treatment available is intended to support child development so that the person can carry out various daily activities independently.

What about your life expectancy?

Most babies with this syndrome die while still in the womb or in the first years of life. A small percentage of patients can continue to grow to adulthood, but must remain under special supervision because of the many physical and mental abnormalities.

Also Read:

  • Get to know Hunter Syndrome, Genetic Disorders Causes of Physical and Mental Disabilities in Children
  • Regarding Tourette's Syndrome, a disorder that makes someone unable to control their movements
  • Identify Patau Syndrome, Deadly Rare Chromosomal Disorders

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