Trisomy 18 (Edward

Syndrome)
How does the disorder occur?
Trisomy 18 is therefore caused by a
genetic abnormality occurring
before conception, when egg and
sperm cells are made. A healthy
egg or sperm cell contains 23
individual chromosomes - one to
contribute to each of the 23 pairs
of chromosomes needed to form a
healthy, 46 chromosome cell.
Features of Edward
Syndrome
Mental Retardation Growth Delay Elongated Head Webbing of the
neck

Low-set malformed
Micrognathia ears Ventricular septal defects

Hypoplastic nails
Rocker bottom feet

Clenched fists with

overlapping of fingers
 A Brief History of the Disorder
Trisomy 18 was discovered by John Hilton
Edwards, a British geneticist, in 1960. His
discovery of it led to the association of his name
with the syndrome.
Edwards (b 1928) served as professor of human
genetics at Birmingham University from 1969 to
1979 and at Oxford University from 1979 to
1995. He was the author of Human Genetics
(1978) as well as numerous papers on a variety
of topics in the field.
 CanTrisomy 18 Be Passed to
Future Generations?

Because Trisomy 18 is caused by non-

disjunction, it cannot be passed on to future
generations. In addition, babies diagnosed with
Edwards syndrome rarely live past 5-6 days;
fetuses identified with Trisomy 18 are often
miscarried or aborted.
Type of Mutation:
Trisomy 18 is a gene mutation which is
caused by an extra 18th chromosome

Where does it occur?

It occurs in the 18th chromosomal pair

What Are the Phenotypic Effects to
the Human Body?
Most children born with Edwards'
syndrome appear weak and
fragile, and they are often
underweight. The head is
unusually small and the back of
the head is prominent. The ears
are malformed and low-set, and
the mouth and jaw are small (also
known as micrognathia). The baby
may also have a cleft lip. Often,
the hands malformed, clenched
into fists with the index finger
overlapping the other fingers. The
child may have club feet, and toes
may be webbed or fused.
 How Is it Diagnosed?

Edwards' syndrome can be detected before birth. If a pregnant

woman is older than 35, has a family history of genetic
abnormalities, has previously conceived a child with a genetic
abnormality, or has suffered earlier miscarriages, she may undergo
tests to determine whether her child carries genetic abnormalities.
Potential tests include maternal serum alpha-fetal protein analysis
or screening

In addition, a pregnant woman carrying a child with Edwards'

syndrome may have an unusually large uterus during pregnancy,
due to the presence of extra amniotic fluid. An unusually small
placenta may be noted during the birth of the child.
 How Is it Treated?
There is no cure for Edwards syndrome.
Ninety to 95 % of all babies born with it die
within a year of birth. The few infants that
do survive need special treatment--ranging
from muscular therapy to nervous system
and skeletal corrections--for their various
handicaps.