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What is Williams disease?

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Williams syndrome is a genetic condition present at birth that is characterized by certain facial features and heart and blood vessel problems, according to the Williams Syndrome Association. The condition affects approximately 1 in 10,000 people worldwide, though the severity of the resulting medical issues ranges from trivial to dangerous.

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Most young children with Williams syndrome exhibit specific facial features, says the Williams Syndrome Association. These features include a small upturned nose, long upper lip, wide mouth, small chin and puffy eyes. Children with Williams syndrome and blue or green eyes may also have a prominent white lacy pattern on the iris.

The majority of individuals with the condition also have some type of heart or blood vessel problem, typically a narrowing of the aorta or the pulmonary arteries, the Williams Syndrome Association states. Monitoring of cardiac health is required, since there is a risk for heart problems developing or worsening over time. Other issues include low weight, dental abnormalities, learning disabilities and high blood calcium levels, known as hypercalcemia.

Normally, individuals with Williams syndrome have no social disabilities and are friendly, even excessively so, the Williams Syndrome Association claims. Furthermore, while fine motor skills and spatial relations suffer, various intellectual areas such as speech and long-term memory can be strong.

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