Williams syndrome

Definition

Williams syndrome is a genetic disorder caused by a deletion of a series of genes on chromosome 7q11. Individuals with Williams syndrome have distinctive facial features, mild mental retardation, heart and blood vessel problems, short stature, unique personality traits, and distinct learning abilities and deficits.

Description

Williams syndrome, also known as Williams Beuren syndrome, was first described in 1961 by Dr. J.C.P. Williams of New Zealand. At that time it was noted that individuals with Williams syndrome had an unusual constellation of physical and mental findings. The physical features include a characteristic facial appearance, heart and cardiovascular problems, high blood calcium levels, low birth weight, short stature, and other connective tissue abnormalities. The...

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