|
Down's Syndrome
What is it?
Originally called mongolism because of the prominent Oriental
features, Down's syndrome is a hereditary defect, and often such
babies are born to the older mother.
Causes:
Down's Syndrome is commonly caused by a chromosomal defect,
where in most cases an extra chromosome is contributed either
from the mother or father, leaving the child with 47 instead of
46 chromosomes. This defect is commonly known as 'Trisomy 21',
as three number 21 chromosomes are present, instead of the
normal two. In some cases there may be other number 21
chromosomal problems, such as in the case of translocation.
Translocation occurs when part of a normal chromosome breaks off
and attaches itself to another chromosome in the parent. If this
distended chromosome is passed on to the child, it will cause
him to have an excess of chromosome 21 material, thus resulting
in Down's syndrome.
Susceptibility:
Your chances of conceiving a baby with this birth defect, are
much higher if either of the parents suffer with a chromosome
disorder or have already given birth to a baby suffering from
the condition. Older mothers are also at risk. Present in up to
100 per 100 000 births
Related Symptoms:
The skull of the child is small and the eyes tend to slant
upwards with prominent folds across the inner corners. The neck
is usually shorter and the ears may be deformed. Hearing and
vision are usually affected, and there may be various internal
defects present.
Development is slower than normal, but the majority of the
children are able to walk at the age of two and learn to talk to
a certain extent. The ageing process takes effect much sooner,
and children are susceptible to certain cancers later in life,
with an average life-span of 55 years.
Females with Down Syndrome are fertile but males are usually
sterile.
Treatment:
Down's Syndrome can be diagnosed before birth through
Amniocentesis testing, and surgery following the birth should be
effective in repairing any serious medical abnormalities.
Outlook:
Down's syndrome children are extremely affectionate, and have
greater capabilities than many would want to believe. There are
a number of schools that offer the appropriate education, and
homes for those who are rejected by their families. Eventhough
they are restricted, few do go on to lead normal lives, and may
be able to live and work independently.
Accepting your Down's syndrome child as part of the family is
of utmost importance, as through this you will be blessed with
the opportunity to discover the absolute beauty of mankind!
Turner's Syndrome
What is it?
Named after the American doctor - Henry Turner - who noted
the condition in 1938. Turner Syndrome is a chromosomal
abnormality, affecting females only - about 1 in 2 500.
Causes:
The normal amount of chromosomes in each cell of the body is
46, while most Turner females only have 45, this being due to a
missing X sex-chromosome. There are times though, when the X
chromosome is present but, imperfect.
Related Symptoms:
Those suffering from the condition will be short in stature,
and there will be other visible external features such as: a
short neck with loose folds of skin present at the back, a low
hairline, a broad chest and swelling of the hands and feet may
be present at birth.
Many babies with Turner Syndrome may experience recurrent bouts
of middle-ear infections, and if not treated early can cause
discomfort and stress to both mother and child. A few children
may have some form of cardiovascular abnormality, but this can
usually be corrected through surgery.
During adolescence breast growth, is normally retarded or
totally absent, with the female being infertile and unable to
bear children. Dosages of the female sex hormones can be given
to increase sexual development during puberty, this however will
not render the patient fertile, but it will assist in the normal
growth of her secondary sexual characteristics.
Treatment:
Oestrogen and progesterone will be given to promote correct
sexual development during puberty and to decrease premature
ageing.
Outlook:
The mentality rate of those with Turner's Syndrome is not
affected and intelligence is normal. Contact your nearest
support group for more information.
Back to Birth Defects
|
