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Warkany Syndrome
What is Warkany syndrome? How serious is it and what does it affect? The
answers to these and many other questions you will find in this article.
Warkany syndrome (also called as Trisomy 8 mosaicism, or trisomy C
syndrome) is a rare a congenital genetic condition that results from the
presence of an extra chromosome 8 within the C group. It means that
during this disease some of the tissues and cells of the human body have
three copies of the number 8 chromosome, or parts of it.
Patients with this condition are usually slender and of normal height,
but have a large asymmetric head with expressionless face, prominent
forehead, deep-set eyes, dysplastic ears, and thick lips. The condition
is characterized by mild or severe motor and mental retardation, the
speech is often delayed and poorly articulated. There are particular
skeletal anomalies and joint limitation, for example, permanent flexion
of one or more fingers. There also occur unusually deep creases on the
palms and plantas, which are diagnosed as the feature of the illness.
Most people with trisomy 8 are mosaic, with only slight and no severe
clinical manifestations. They also can be only partially trisomic, with
part of the extra chromosome 8 missing, and possess various degrees of
the clinical symptoms. But as a rule, trisomy 8 is a less severe
condition than other types of trisomies, especially trisomy 13 (results
from an extra copy of chromosome 13) and trisomy 18 (caused by the
presence of three copies of chromosome 18), so the rate of mortality in
trisomy 8 is low.
The condition of Warkany syndrome is named so after the last name of
Josef Warkany. Dr. Josef Warkany is pediatrician and scientist
specializing in birth defects. He is well-known for his studies on
iodine deficiency and cretinism, riboflavin deficiency and cleft palate
in experimental animals, and his discovery that mercury in teething
powders caused a condition called acrodynia. He is called the father of
modern teratology, and largely by his discoveries, new drugs have to be
tested extensively to ascertain whether or not they produce birth
defects.
During his long life, he published the results of more than 200
investigations. He also published his great 1981 textbook Congenital
Malformations, Notes and Comments, a major 20th-century milestone in the
field of congenital malformations.
Let us return to chromosome 8 trisomy. The scientists differ the
symptoms and the complications of Warkany syndrome, through in the
majority of cases the distinction between the symptoms of Chromosome 8
trisomy syndrome and complications of Chromosome 8 trisomy syndrome is
unclear and relative.
Among the most common symptoms and signs of Warkany syndrome 2 the
specialists outline the following:
The complications of Warkany syndrome 2 are viewed as the secondary
conditions, symptoms, or various other disorders that result from the
disease of Chromosome 8 trisomy syndrome. The list of complications and
consequences of Chromosome 8 trisomy syndrome involves as follows:
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Facies abnormality
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Learning disability
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Pectus carinatum
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Scoliosis
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Hypertelorism, ocular
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Kyphosis
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Micrognathia
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Microphthalmos
Is there the possibility to foresee and then prevent the disease of
Warkany syndrome and different other abnormal conditions? There is one
method not preventing, yet foreknowing whether the kid will be
physically, genetically, and morally healthy. It is ultrasound that
usually assists in the matter of revealing multiple abnormalities in the
fetus; nevertheless, as a great many of multiple malformation syndromes
have rather similar features, the diagnosis should be based on karyotype,
it should be done either prenatally or on peripheral blood lymphocytes
or skin fibroblasts in a neonate or an aborted fetus. A newborn child
may have a single umbilical artery at birth. Magnetic resonance imaging
or a computed tomography scan of the head may reveal a structural
abnormality of the brain (holoprosencephaly) in which the two cerebral
hemispheres are fused.
How should the parents treat those poor children with of Warkany
syndrome? Is there any cure? Unluckily, one and the only possible as of
today treatment for the newly born with Chromosome 8 trisomy syndrome is
a supportive care.
There are also Special considerations concerning the parents of children
with of Warkany syndrome. They include the following:
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Maintaining the infant's fluid balance, and positioning him
for comfort by the parents.
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Providing the family that has a person with this condition
with emotional support
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Referring the parents of an affected infant for genetic
counseling to explore the cause of the disorder and to discuss
the risk of recurrence in future pregnancies.
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Referring the parents to a social worker for additional
support if it is needed.
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Referring the parents to the Support Organization for
Trisomy 18, 13 and Related Disorders and thus to provide them
with an interaction with other parents of infants with trisomy
18 and trisomy 13.
How serious is Warkany syndrome? It is as serious as all the diseases
that affect the genetic system of the person. The following features
that accompany this illness, including mental retardation, facial
deformities and certain orthopedic abnormalities, speak for themselves.
The fetuses that are most affected spontaneously abortions because of
non-disjunction. The crux of the matter is that the disease is incurable
as trisomies are not correctable by any known genetic manipulation.
Nevertheless, I guess that the work on the development and searching the
potential cure for all incurable illnesses takes place and probably in
some decades and even years the scientists will surprise us with a new
great technique of diagnosing and giving birth only to healthy children.
Probably, in future, there will not be unhealthy kids and grown-ups any
more. You will accuse me of dreaming and daydreaming, but I will answer
that with the great outbreak in medicine and medical technique
everything that is impossible will soon become a common place. So we can
only wish good luck to those who develop the heal-all and other magic
curative means that will soon help us to overcome all awful diseases and
poor conditions and we will enjoy our happy and
healthy lives!
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