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Williams syndrome

Williams syndrome (Williams-Beuren syndrome) is a rare genetic disorder, occurring in fewer than 1 in every 20,000 live births. more...

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It is characterized by a distinctive, "elfin" facial appearance, an unusually cheerful demeanor, ease with strangers, mental retardation coupled with an unusual facility with language, a love for music, cardiovascular problems such as supravalvular aortic stenosis, and hypercalcemia. Williams shares some features with autism, although persons with Williams syndrome generally possess very good social skills, to the point that this condition is sometimes called "cocktail party syndrome".

Another symptom of Williams syndrome is lack of depth perception and inability to visualize how different parts assemble into larger objects (for example: assembling a jigsaw puzzle). This problem is caused by a slight defect in the brain that creates a sparsity of tissue in the visual systems of the brain. A team of researchers at the National Institute of Mental Health used functional magnetic resonance imaging (fMRI) to watch the blood flow of the brains of test subjects while they were performing two tasks involving spatial relations. Persons with Williams syndrome showed weaker activity in the section of the brain associated with spatial relations. Scans of brain anatomy of test subjects with Williams indicated a deficit of brain tissue in an area of the same section of the brain mentioned above. This deficit partially blocks transmission of visual information to the spatial relations region of the brain. In the test, all participants of the study measured in the average intelligence range to remove the possibility that the retardation aspect of Williams syndrome may have had an effect on the visual systems of the tested individuals.


Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes more than 20 genes, and researchers believe that the loss of several of these genes probably contributes to the characteristic features of this disorder. CYLN2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome. Researchers have found that loss of the ELN gene, which codes for the protein elastin, is associated with the connective tissue abnormalities and cardiovascular disease (specifically SVAS) found in many people with this disease. Studies suggest that deletion of LIMK1, GTF2I, GTF2IRD1, and perhaps other genes may help explain the characteristic difficulties with visual-spatial tasks. Additionally, there is evidence that the loss of several of these genes, including CYLN2, may contribute to the unique behavioral characteristics, mental retardation, and other cognitive difficulties seen in Williams syndrome.


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Williams Syndrome
A rare genetic disorder first described by J.C.P. Williams of New Zealand, characterized by an abnormality on chromosome seven.
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