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The following is reprinted from Yahoo! Health
Williams syndrome |
Definition
A condition of unknown cause characterized by mental
retardation, unusual facial appearance, and frequent heart
abnormalities.
Causes, incidence, and risk factors
Williams syndrome is a rare condition whose cause remains
undetermined. The most commonly observed findings are
mild-to-moderate mental retardation which may be mild to
moderate, and abnormal facial features, including prominent
lips with an open mouth, a long philtrum (midline of upper
lip from lip margin to nose), low nasal bridge, or
epicanthal folds. There may be partial absence of the teeth
and defective tooth enamel.
Affected people may have heart and blood vessel problems,
including supravalvular aortic stenosis, pulmonic stenosis
and pulmonary artery stenosis. These abnormalities are
thought to be due to a subtle defect in connective tissue.
Many affected people may have elevated levels of calcium in
their blood (hypercalcemia).
Other minor abnormalities may be present but are not
consistent. An irregular star-like pattern in the iris of
the eye is often seen. Bony abnormalities include pectus
excavatum, an inward bend of the small finger
(clinodactyly), and an inward point of the great toe.
Prevention
unknown
Symptoms
 | mental retardation |
| prominent lips |
| open mouth |
| long philtrum (midline of upper lip from lip margin
to nose) |
| missing teeth |
| hypoplastic tooth enamel |
| low nasal bridge |
| epicanthal folds |
| inward bend of little finger (clinodactyly) |
| inward bend of great toe |
Signs and Tests
The infant may show signs of:
| aortic stenosis |
| pulmonic stenosis |
| pulmonary artery stenosis |
| VSD |
| ASD |
| renal artery stenosis |
| unusual pattern in iris ("stellate" or star-like) |
Tests:
| serum calcium (elevated) |
| X-ray of the chest (may show heart abnormalities) |
| echocardiography (may show heart abnormalities) |
| ECG (may show heart abnormalities) |
Treatment
There is no specific treatment for Williams syndrome. The
heart abnormalities are the most significant immediate
health problems and are treated depending on their specific
diagnosis.
Expectations (prognosis)
Some degree of mental retardation is a consistent finding
in Williams syndrome.
Complications
Complications are related to specific cardiovascular
lesions.
Calling your health care provider
Many of the symptoms and signs of Williams syndrome are
apparent at birth. Call your health care provider if you
child has Williams syndrome and develops any new or unusual
symptoms.
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Important Disclaimers
The information contained above is intended for general
reference purposes only. It is not a substitute for
professional medical advice or a medical exam. Always seek
the advice of your physician or other qualified health
professional before starting any new treatment. Medical
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evaluated by the Food and Drug Administration and
therefore the information should not be used to diagnose,
treat, cure or prevent any disease without the supervision
of a medical doctor. |
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