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Williams syndrome

• Overview
• Symptoms
• Treatment
• Prevention

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: 3/13/2006
• 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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