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Williams Syndrome

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by

Sydnie Woodley

on 11 December 2014

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Transcript of Williams Syndrome

Outcome:
They will need ongoing medical care
They will need early intervention
-speech
-physical
-occupational therapy
**a form of therapy for people recovering from physical or mental illness that encourages rehabilitation through the performance of activities required in daily life.
Grown patients will more them likely live in a house with a full time care giver
By age 30 they will more then likely have
diabetes
Patients do not live as long as normal due
to complications
Where Williams Syndrome is located:
Caused by a deletion of the gene 7q11.23
This gene is
one of the 25
genes that
produces elastin
It can occur on
the egg or
from the sperm
The deletion of
this gene is so
small it can not
be seen in a
karyotype

Symptoms:
Delayed speech
Delayed development
Easily distracted
Feeding problems
-colic
-reflux
-vomiting
Inward bend of small finger
Learning disorder
Short
Sunken chest
Unusual appearance of face
-small upturned nose
-long ridges in the skin
-prominent lips with open mouth
-skin that covers the inner
corner of eye
-partial missing teeth
80% chance of having a heart
murmur

Clinical Trials and Gene Therapy:
Support Groups
The Lili Claire Foundation
-(702)862-8141
Williams Sydndrome Changing Lives Foundation
-(727)557-7177
http://www.williams-syndrome.org
Williams Syndrome
Treatments and Therapies:
There is no cure for Williams syndrome
You have to avoid taking high amounts of calcium and Vitamin D
**because of the narrowed veins

Physical therapy is taken for stiff joints
Speech therapy is typically taken by children

Many are typically musically talented
This is Sophia. She is 3 and was diagnosed at age 1.
What is Williams Syndrome?
Scientific name is
Williams-Beuren Syndrome
Rare genetic disease
Affects the:
-growth
-physical appearance
-cognitive development
**Cognitive:The study of how we
think, remember, decide, and
perceive
Occurs in about 1 in 10,000 births
Occurs when one of the 25 genes,
that produces elastin, is
missing

Diagnosis:
High blood pressure
Unusual pattern in
the iris of the eye
High blood calcium
-could cause
seizures, and
rigid muscles
Slack joints
Farsightedness
Clinical trials going at several universitys:
-cognititve process
-facial recognition
-anxiety
There is no gene therapy for this syndrome
and for more Information:
Full transcript