Williams syndrome is caused by a microdeletion on the long arm of chromosome 7.
The elastin gene is on the long arm of chromosome 7, often where the microdeletion occurs.
Elfin facies is a term commonly used to describe the appearance of people with Williams syndrome. Individuals with Williams syndrome tend to have widely spaced teeth, a long philtrum, and flattened nasal bridge.
Intellectual Disability (formely Mental retardation) is present in most cases of Williams syndrome.
Individuals with Williams syndrome typically display a hallmark trait of lack of social inhibition leading to extreme friendliness with strangers. Infants with Williams syndrome will often hug complete strangers and the level of friendliness observed is often inappropriate for the social setting.
Despite physical and cognitive deficits, individuals with Williams syndrome exhibit well developed social and verbal abilities.
Individuals with Williams syndrome experience many cardiac problems including heart murmurs or narrowing of major blood vessels.
Hypercalcemia results from a hypersensitivity to vitamin D and can frequently be seen in patients with Williams. This can result in seizures and muscle rigidity.
Patients with Williams syndrome can have increased sensitivity to vitamin D leading to hypercalcemia.
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