Williams Syndrome
Alternate Names : Williams-Beuren Syndrome
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Williams Syndrome Diagnosis & Tests
- prominent lips with an open mouth
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flattened nasal bridge with small upturned nose
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epicanthal folds
- long philtrum (midline from upper lip margin to lower nose)
- unusual pattern in iris ("stellate" or star-like)
- partial absence of the teeth, defective tooth enamel, or small, widely-spaced teeth
- heart failure (depending on degree of heart defect)
- high blood calcium level, hypercalcemia, that may cause seizures and muscle rigidity
- hypertension (depending on degree of blood vessel narrowing)
-
echocardiography with Doppler (may show blood vessel narrowing)
- periodic blood pressure check
- kidney ultrasound (some patients have renal defects)
- blood test for chromosome deletion that is called a FISH test (genetic defect found in 99% of patients with Williams syndrome)
- far sightedness
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