Definition

What is Edwards’ syndrome?

Edwards’ syndrome is a very rare condition caused by an abnormal amount of chromosomes in the cells of the body.

Babies are normally born with 46 chromosomes, which are arranged in 23 pairs. A baby with Edwards’ syndrome has three copies of chromosome 18, rather than the usual pair. The condition is also known as trisomy 18.

Edwards’ syndrome is a very serious condition. Sadly, most babies who are born with Edwards’ syndrome only survive a few days, weeks, or months. Those who survive longer than a year have a wide range of complex medical problems.

Babies with Edwards’ syndrome don’t grow as well as they should in the uterus and so have a low birth weight. Their hearts and kidneys don’t develop properly. They have problems with feeding and breathing and they have severe learning difficulties.

How common is Edwards’ syndrome?

Edwards’ syndrome is very rare. About one pregnancy in every 1,500 is diagnosed with Edwards’ syndrome. Most women who are pregnant with a baby affected by Edwards’ syndrome will experience a miscarriage. The chromosomal abnormality means the pregnancy simply can’t develop properly. Alternatively, because of the seriousness of the condition, parents-to-be may make the difficult decision to go through with a termination. Only one baby in 6,000 is actually born with Edwards’ syndrome. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Edwards’ syndrome?

The child with Edwards Syndrome succumbs to the disease condition before birth itself. In some cases where a child with Edwards Syndrome is delivered, such children are abnormally weak and fragile. As stated above, they are abnormally underweight and have an extremely small head.

There may also be:

  • Malformation of the earsor low-set ears
  • Underdeveloped mouth and jaw
  • Cleft palate
  • Clubbed feet
  • Webbed toes

There are also abnormalities in the other parts of the body like the lungs where the blood vessels may be underdeveloped or malformed. Children with Edwards Syndrome may also have congenital heart defects like atrial septal defect or ventricular septal defect which are quite life threatening conditions.

Affected children may also have abnormalities in the kidneys and urinary systems. Males patients may have undescended testicles.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If your loved one has any signs or symptoms listed above or you have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Edwards’ syndrome?

Till date, the causes of Edwards’ syndrome are not known.

Risk factors

What increases my risk for Edwards’ syndrome?

The risk of having a baby with Edwards’ syndrome increases slightly as the mother become solder. It is usually caused by a genetic abnormality in either the egg or sperm that created your baby.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Edwards’ syndrome diagnosed?

A diagnosis of Edwards Syndrome may be done by looking at the physical features present at the time of the birth of the child. Additionally, radiological studies may show the characteristic musculoskeletal abnormalities seen with Edwards Syndrome.

Once Edwards Syndrome is suspected, an extensive examination of the child’s chromosomes can be done which will clearly show the trisomy 18 abnormality. Additionally, a prenatal ultrasound or an amniocentesis before the delivery of the child may also help confirm a diagnosis of Edwards Syndrome.

How is Edwards’ syndrome treated?

As of now, there is no cure for Edwards Syndrome. The treatment is basically symptomatic and supportive. The treatment for such children is highly complex.

As the prognosis of such children is extremely poor and may extend for a maximum of one year; surgery, although an option, is not carried out as the risks far outweigh the benefits of a surgical procedure.

Studies suggest that only 10% of children survive beyond one year with Edwards Syndrome. The overall development of the child is affected due to nervous system abnormalities and the child may not be able to complete the expected milestones as a result of this.

Due to abnormalities in the digestive system such children are fed with special formula foods and laxatives as they tend to have chronic constipation.

Some abnormalities for which treatments can be given are seizures, club foot, webbed toes, pneumonia, infections, hypertension, hydrocephalus, and certain heart defects that can be seen in children with Edwards Syndrome.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Edwards’ syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 1, 2018 | Last Modified: February 1, 2018

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