Edward's Syndrome: by Eva19222, Susan19238

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E dward’s S yndrome

by Eva19222, Susan19238
INTRODUCTION
W h a t i s E d w a r d ’s S y n d r o m e ?

Edwards Syndrome is a genetic disorder, in which a


person has a third copy of material from
chromosome 18, instead of the usual two copies.
It is named after John H. Edwards, who first
described the syndrome in 1960.

Other names for Edwards Syndrome


• Complete trisomy 18 syndrome
• Trisomy 18 syndrome
• Trisomy E syndrome
Datas about Edward's Syndrome

Frequency
• Occurs in about 1 in 5,000 live-born infant
s.
• Around 80 percent of those affected are f
emale.
• Many individuals with trisomy 18 die befor
e birth.
• Five to 10 percent of children with this co
ndition live past their first year, but they a
ll experience severe disability.
• Women older than the age of thirty have a
greater risk of bearing a child with the syn
drome, although it may also occur with wo
men younger than thirty.
Symptoms of Edwards
syndrome
• feeding difficulties

• breathing difficulties

• intellectual disabilities

• abnormal growth and developme


nt
Some babies also have:
• undescended testes (in boys)
• an unusual-looking face and head

• unusual hands and feet with overlapping fingers and we


bbed toes

• small bones i n the pelvis and chest

• problems with organs such as the heart, lungs and kidn


eys
Cause of Edwards' Syndrome

CAUSE:
Chromosomes come in 23 pairs, with most people
having 46 intoral. Edwards' Syndrome is caused when
a person has three copies of chromosome #18 instead
of the usual two, for a total of 47 chromosomes.

3 TYPES:
• Full Trisomy18 --- third copy of chromosome#18 in
all the cells (95%)
• Mosaic Trisomy18 --- third copy of chromosome#18
in some of the cells (5%)
• Partial Trisomy 18 --- a part of a third copy of
chromosome 18 in the cells (1%)
Diagnosis of Edwards syndrome

At birth:
by physical abnormalities characteristic to the syndrome During pregnancy:
• physical examination • maternal serum alpha-fetal protein
• X rays
analysis or screening
• karyotyping • ultrasonography
• unusually small placenta • amniocentesis
• chorionic villus sampling

People may born child canrrying genetic


abnormalities:
• older than 35
• family history of genetic abnormalities
• previously conceived child with a genetic abnormality
• ealrier miscarriages
Treatment and Life Expectancy of Edwards syndrome

Treatments
There is no known cure for Edwards syndrome. The tr
eatment is given as per the presence of symptoms

• Providing good, nutritious food

• Aiding in activities for the better functioning of the


heart and the di gestive track

• Feeding via a nasogastric tube for children with fee


ding difficulties Life expectancy:
• Physi otherapy and occupational therapy for chil dre
The average life span is 5 to 15
n with limb disorders
days. 8 percent of infants are a
ble to live more than 1 year whil
e 1 percent of children live up t
o the age of 10 years.
REFERENCES

https://education.byu.edu/istap/content/disabilities/edwar
ds_syndrome
https://symptomstreatment.org/edwards-syndrome/
https://medlineplus.gov/genetics/condition/trisomy-
18/#resources
h t t p s : / / w w w. h e a l t h d i r e c t . g o v. a u / e d w a r d s - s y n d r o m e -
trisomy-18
https://www.trisomy18.org/what-is-trisomy-18/
https://patient.info/doctor/edwards-syndrome-trisomy-18-
pro
THANKS FOR W
AT C H I N G

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