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Williams syndrome
Alternative Names
Williams-Beuren syndrome
Symptoms
- mild-to-moderate mental retardation
- short stature relative to family
- feeding problems including colic, reflux, vomiting (due to low muscle tone and poor gag reflex)
- joint laxity that may progress to stiffness as patient gets older
- developmental delay
- initially delayed speech development may turn into relatively loquacious speech later and relatively strong learning by hearing
- distractibility, attention deficit (ADD)
- learning disorders, for example poor visual-spatial abilities
- blood vessel narrowing including: supravalvular aortic stenosis, pulmonary stenosis, and pulmonary artery stenosis
-
pectus excavatum
(sunken chest)
- clinodactyly (an inward bend of the small finger)
- personality traits include being overtly friendly, trusting strangers, fear of loud sounds or physical contact, and an affinity for music
Signs and tests
- prominent lips with an open mouth
-
flattened nasal bridge
with small upturned nose
-
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 (high blood pressure), 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
Review Date: 03/13/2006
Reviewed By: Lamya Alarif, Ph.D., H.C.L.D., Immunology and Genetics Associates,
McLean, VA. Review provided by VeriMed Healthcare Network.
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