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Transcript of Williams Syndrome
They will need ongoing medical care
They will need early intervention
**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
Patients do not live as long as normal due
Where Williams Syndrome is located:
Caused by a deletion of the gene 7q11.23
This gene is
one of the 25
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
Inward bend of small finger
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
Clinical Trials and Gene Therapy:
The Lili Claire Foundation
Williams Sydndrome Changing Lives Foundation
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
Rare genetic disease
**Cognitive:The study of how we
think, remember, decide, and
Occurs in about 1 in 10,000 births
Occurs when one of the 25 genes,
that produces elastin, is
High blood pressure
Unusual pattern in
the iris of the eye
High blood calcium
Clinical trials going at several universitys:
There is no gene therapy for this syndrome
and for more Information: