Edwards Syndrome

What is Edwards Syndrome?

Edwards Syndrome is a genetic disorder occurs due to faulty mitotic cell division. This is a fatal disorder which interferes before and after birth. Usually human has 23 pairs of chromosomes, but in Edwards Syndrome, the 18 number of chromosome has triple in number instead of double. This cell division error interrupts the normal physical and mental development of a child after birth and even before birth, it may be a cause of stillborn or miscarriage.


Edwards Syndrome


 

Image 1: Edwards Syndrome

The prognosis of this disease incidence is not frequent; it is estimated almost 1 in 5000 births. The male child life duration is much less compared to a female child. Alternatively, Edwards Syndrome is also named as trisomy 18.

Causes/genetics

Human cells contain pair of chromosomes, but in case of Edwards Syndrome, chromosome 18 is not paired but it has three copies. There are three types of Edwards Syndrome:

Genetic-description-of-edward-syndrome-3rd-pair-of-18th-set

 

Image 2: Genetic description of edward syndrome (3rd pair of 18th set)

Full Form of Edwards Syndrome

In which every cells are affected, all of them carries chromosome 18 as triple copies. This is most severe form of Edwards Syndrome.


Mosaic trisomy 18

About five percent of babies who suffered from Edwards Syndrome have this specific form. Some specific cells only contain triple chromosome 18, instead of all the cells. The severity is depends upon numbers and types of cells are affected with extra chromosomes.

Partial Edwards Syndrome

In rare cases only long arm of the chromosomes partly attached with another chromosome at the premature stage of the embryo formation. The extra material is obtained from another attached part of the chromosome which will add on with chromosome 18 pairing. In this malformation, severity depends upon partly or fully the long arm of the chromosome 18 is affected.

Symptoms

The duration of life span usually very less in case of Edwards Syndrome and possess several complex health issues with physical deformity which include:

 

Symptoms-of-Edward-Syndrome

Image 3: Symptoms of Edward Syndrome

  • Club foot
  • Clasp fists, fingers are tightly closed and difficult to open them.
  • cleft palate
  • The vital organs including heart, kidney, lungs and gastro intestinal organs malfunctioning
  • Atrial and ventricular spetal defects in heart.
  • Unable to feed orally
  • Physical and mental delayed development
  • Microcephaly (size of the head is smaller than the normal)
  • micrognathia (size of the jaw is smaller than the normal)
  • Sound of the cry is low.

Treatment

Edward’s syndrome is an incurable disease, no treatment is available. The complexity of the disorder cannot be managed with one therapy, numbers of health experts need to control the detrimental symptoms.

  • The usual aim of treatment is increasing the durability of the life. Usually children with Edward’s syndrome cannot live independently, they need fulltime caregiver may be at home or in hospital. Treatment is based on the continuous specialized care which can only possible in hospital or in the palliative care unit at the last stage of life.
  • Usually more morbid conditions such as infection spreading, the cardiac issues are taken care as a priority basis. The most frequently occur infections are otitis media, where middle ear got the infection, upper respiratory tract infection, including pneumonia, bronchitis and urinary tract infection. Other than these, the development of sepsis is very common.
  • Most of the cases, children need a tube feeding, as they unable to eat. Occurrence of constipation for infants suffered in Edward’s syndrome is usual, due to reduced abdominal muscle tone. This produces anorexia, unease and discomfort. Pharmacy store, some particular milk formulations are available which are easily digestible which doctors may advised for affected infants. Other than these digestive, anti-flatulence drugs, purgatives, stool softening medication and suppositories are also prescribed by the doctor for reduction of the discomfort.  Enemas are not recommended for children with Edward’s syndrome; as excessive stool pass may drain the electrolytes from the body and imbalance occurs in body fluid.
  • Other complication like limb deformity needs supportive care, which include physiotherapy and occupational therapy.
  • Surveys provide the evidence that, support system from the neonatal intensive care unit (NICU) give good survival rate. In NICU, special attention is given to the children with Edward’s syndrome which include resuscitation.
  • The surgical intervention can modify some of the symptoms such as esotropia, muscle tone related issues, club foot and cleft palate. But the chances of prospects are very low in surgical intervention. This may creates complication or medical emergency situation due to cardiac problems.  In this regards consultation with parents is very important.

Life Expectancy

The life expectancy is very short. In most of the cases, in the 2nd and 3rd trimesters of pregnancy, miscarriage takes place. Stillborn cases are also quite common with Edwards Syndrome.

After birth, most of the children with Edwards Syndrome can survive hardly one year. The survey revealed that maximum mortality occurs within 2 weeks to three months. In rare cases, children can live up to 18 years of age with severe physical and mental conditions.

Edwards Syndrome Pictures

edwards syndrome photo


References

  1. Trisomy 18: Background, Pathophysiology, Epidemiology at http://emedicine.medscape.com/article/943463-overview
  2. Trisomy 18 Foundation – What is Trisomy 18? at http://www.trisomy18.org/what-is-trisomy-18/
  3. http://www.emedicinehealth.com/trisomy_18_edwards_syndrome/article_em.htm
  4.  Trisomy 18 – Genetics Home Reference at http://ghr.nlm.nih.gov/condition/trisomy-18
  5. Edward’s Syndrome: Causes, Symptoms & Treatment at http://www.disabled-world.com/disability/types/edwards-syndrome.php

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