Beckwith- Wiedemann

Syndrome
(BWS)

Micaela Daz & Nicole Isch

Tabla de contenido
What is it?..........................................................................................................3
What are its symptoms?....................................................................................3
Treatments & Cures............................................................................................4
Causes & Inheritance.........................................................................................4
Interesting Facts.................................................................................................4
Bibliography.......................................................................................................5

What is it?
The BWS is a diseases that affects many parts of the body. Around 10 or 20% is
caused by genetic reasons. This syndrome is known as an overgrowth syndrome
which means that it affects many of the organs of its patients and make them much
larger than what they should be. The abnormal growth stops when they are around 8
years old and this is why they have a normal height when they are grownups. An easy
way to identify a newborn with this syndrome is because their abdominal wall is open
which lets organs protrude (move out of place). This disease can lead to a formation
of cancer tumors and death. (Genetics Home Reference, 2015)

What are its symptoms?

Some of the symptoms that this syndrome has are pretty severe. For example, an
abdominal wall defect is when your organs protrude which means that they move
from their place. This means that people with BWS get holes on their abdomen by
which their organs might fall out. As I mentioned before, this syndrome causes organs
and parts of the body to grow bigger than others which can make someone develop a
leg longer than the other and that would affect how this person walks. One of the most
important things that parents should take care of is of chocking because this people
have big tongues which makes it harder for them to breathe and eat. BWS patients in
most cases develop hypoglycemia which is low sugar on the blood, this can lead to
diabetes.
Humans affected by this syndrome also develop seizures which are changes in
behavior and mood because of an electrical shot that occurs the brain. They also
experience lethargy which is feeling tiredness and lack of energy. This newborns have
a really high chance to develop cancer tumors that can be cured if they are found at
the appropriate time. They also have mild or microcephaly which means they have a
much smaller head than normal kids. (Kaneshiro, 2013)

Treatments & Cures

The Beckwith-Wiedemann syndrome has no cure, but it has tests and treatments that
they receive. Some test they do to determine the BWS syndrome is blood sugar
testing, scan of the abdomen (X-ray), and chromosome analysis. The treatments for
this syndrome depends on the child and how sever it is. Newborns may have
macroglossia that is large tongue. If they have macroglossia that is very common with
this syndrome, they normally need a breathing tube because the large tongue dont let
them breath. Also they need a feed tube, so they can eat. They may or not have
tumors, so that is treated as needed. (Benioff Childrens Hospital, 2002)

Causes & Inheritance

This gene normally occurs because of an abnormal moment or episode in the
alignment of genes and formation in chromosome 11. All this processes occur in the
formation of the egg or sperm cell just before birth. Normal people receive one gene
that codes for chromosome 11 from the mother and another from the father and both
would show but in this case only one of them is expressed. This abnormalities are
known as genomic imprinting.
In 85% of cases only one person from the family has the syndrome but parents who
had a child with BWS have a high risk on having another one. The other 10-15% of
cases have more than one person with BWS which means that they have a dominant
autosomal, this means that only one copy of the gene can cause the disorder. (Genetics
Home Reference, 2015)

Interesting Facts
Some interesting facts about the syndrome BSW is that childrens with the syndrome
are more likely to get childhood cancer than other childrens without the syndrome.
Childrens conceived with vitro fertilization, that means when a mature eggs are
retrieved from the ovaries and fertilized in a lab have more chances of getting
Beckwith- Wiedemann syndrome. Doctors think that this is due because of the turn
off and on of the VF procedure.

The syndrome was first known as EMG because of exomphalos (organs found near to
the abdomen are covered by a thin membrane made of peritoneum and amnion. They
are congenital abnormalities.) Congenital Abnormalities are certain organs that are not
fully developed (the most common one is the kidney). Macroglossia is another reason
why it was named this way. Macroglossia means large tongue which made the
breathing of this patients harder.
The occurrence of this syndrome is 1 out of 13,700. People with only one person in
the family with the BWS syndrome have fewer chances to have another child with
BWS than people with someone else in the family with the same syndrome. It occurs
equally in males and females. (Childrens Hospital of Philadelphia, 2015)

Bibliography

Benioff Childrens Hospital. (2002). Obtenido de Unversity of San Francisco

California: http://www.ucsfbenioffchildrens.org/conditions/beckwithwiedemann_syndrome/
Childrens Hospital of Philadelphia. (2015). Obtenido de
http://www.chop.edu/conditions-diseases/beckwith-wiedemannsyndrome#.VPko_bA5C01

Genetics Home Reference. (2 de March de 2015). Obtenido de

http://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome

Kaneshiro, N. K. (5 de october de 2013). Medline Plus. Obtenido de

http://www.nlm.nih.gov/medlineplus/ency/article/001186.htm