Edward syndrome by hafiz m waseem

2. EDWARD SYNDROME
HAFIZ M WASEEM UNIVERSITY
OF EDUCATION LAHORE

3. CONTENTS
 Definition
 Trisomy 18
 Causes
 Symptoms
 Diagnosis
 Treatment
 Types
 Life expectancy
 References

5. DEFINITION
 Edwards syndrome is a chromosomal
abnormality due to the presence of an extra
copy of chromosome on 18th chromosome.
 It is a rare but serious condition.
 It is also known as ‘’Trisomy 18.’’

6. TRISOMY 18
It is a chromosome disorder characterized by
having 3 copies of chromosome number 18
instead of the usual 2 copies.
The children that affects by trisomy 18 have:
 Developmental delay
 Birth defects
 Health problems involving nearly every organ
system in the body.

8. DISCOVERY OF EDWARDS
SYNDROME
 It is named after John H.Edwards ,who first
described the syndrome in 1960.

9. CAUSES OF EDWARD SYNDROME
 Edward syndrome is due to the non- disjunction
and aneuploidy formation.
 Sometimes an error occurs when the egg or
sperm cell is forming ,causing it to have an extra
chromosome and this leads to the edward
syndrome.

10. SYMPTOMS OF EDWARDS
SYNDROME
Babies with trisomy 18 have:
 Mental retardation
 Intellectual disability
 Heart defects
 Microcephaly and prominent occiput
 Micrognathia
 Low set ears
 Clenched fists
 Club feet and their feet have been described as a ‘’rocker
‘’ bottom feet due to their shape and their toes may be
fused or webbed.
 Kidney malformation
 Children appear both fragile and weak
 Feeding difficulties

12. Diagnosis OF EDWARDS
SYNDROME
Edward syndrome can be diagnosed by physical
examination.
 To confirm the diagnosis,a small blood sample
can be taken and the chromosomes can be
analyzed to determine the presence of an extra
chromosome 18.
 From Screening ,this syndrome can also be
diagnosed.
 Through ultrasound,but it is not 100%accurate.

14. TREATMENT OF EDWARDS
SYNDROME
Medical sciences has not found any cure for this
syndrome at this time.
 Surgery can treat some of the issues related to this
syndrome,yet extreme conditions cannot be cured
by this method.
 Genetic counseling also recommended for Trisomy
18.This can help parents to:
 Understand the results of chromosomal tests in
detail
 Understand the chances that other babies will be
affected

16. TYPES OF EDWARDS
SYNDROME
There are following types of edwards
syndrome:
Full Edwards Syndrome
Mosaic Edwards Syndrome
Partial Edwards Syndrome

17. 1-FULL EDWARDS SYNDROME
 This is the variation of the condition that is
caused when chromosome 18 is fully abnormal
and is most common one.
 Most babies with Edwards syndrome have an
extra chromosome 18 present in ‘’all cells’’.This
is called as full edwards syndrome.
 The effects of full edwards syndrome are often
more severe .sadly, most babies with this form
will die before they are born .

18. 2-MOSAIC EDWARDS
SYNDROME
 A small number of babies with edwards
syndrome (about 1 in 20)have an extra
chromosome 18 in’’ just some cells ‘’.This is
called as ‘’mosaic edwards syndrome ‘’ or
‘’mosaic trisomy 18.’’
 Most babies with this type of syndrome who
are born alive will live for atleast a year or in
rarely cases they may live to adulthood.

19. 3-PARTIAL EDWARDS
SYNDROME
 A very small number of babies with edwards
syndrome (about 1 in 100)have only a section of
the extra syndrome 18 in their cells rather than
a whole extra chromosome 18.This is called as
‘’partial edwards syndrome’’ or ‘’partial trisomy
18.’’

20. LIFE EXPECTANCY
 The average life span for half of the children
born with this syndrome is less than 2
months,approximately 90-95%children die prior
to their first birthday.
 Most babies with edwards syndrome will die
before or shortly after being born.

21. REFERENCES
 "Edwards syndrome (John Hilton Edwards).’’
WhoNamedIt.com. Archived from the original
on 2008-07-09. Retrieved 2008-07-24.
 ^ Cereda, Anna; Carey, John C (2012-10-23The
trisomy 18 Orphanet Journal of Rare
Diseases. 7: 81..
 "What is Trisomy 18? Trisomy 18
Foundation. Archived from the original on
2009-03-23. Retrieved 2008-07-24.