Everything about Williams Syndrome totally explained
Williams syndrome (also
Williams-Beuren syndrome) is a rare
genetic disorder, occurring in about 1 in 7,500 live births. It is characterized by a distinctive, "
elfin" facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with strangers, coupled with unpredictably occurring negative outbursts;
mental retardation coupled with unusual (for persons who are diagnosed as mentally retarded)
language skills; a love for
music; and cardiovascular problems, such as
supravalvular aortic stenosis and transient
hypercalcaemia. The syndrome was first identified in 1961 by Dr.
J. C. P. Williams of
New Zealand.
Symptoms
Williams syndrome shares some similarities with
autism (such as difficulty understanding the
state of mind of conversational partners) and
fetal alcohol syndrome (for example, certain facial features, possible learning disabilities, and negative potential outbursts), although persons with Williams generally possess very good social skills, such that this condition is sometimes called "cocktail-party syndrome". There also appears to be a higher prevalence of
left-handedness and
left-eye dominance in those with Williams, and cases of
absolute pitch appear to be significantly higher amongst those with the condition.
Relativity and perception
Another symptom of Williams syndrome is lack of
depth perception and an inability to visualize how different parts assemble into larger objects (in assembling
jigsaw puzzles, for example). This problem is caused by a defect in the
brain that creates a sparsity of tissue in the visual systems of the brain. When asked to perform tasks involving spatial relations, with their brains scanned by
fMRI, people with Williams Syndrome showed weaker activity in the dorsal area of the brain, which is along the top and back of the brain and associated with vision and spatial relations. (fMRI measures brain activity by measuring blood flow through different parts of the brain.)
When asked to copy a picture, those with Williams Syndrome drew the small details while those diagnosed with
Down Syndrome drew the big picture (Navon Task).
Cause
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Williams syndrome is caused by the deletion of genetic material from the region q11.23 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.,
ELN,,, and 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
supravalvular aortic stenosis (SVAS) and
supravalvular pulmonary stenosis (SVPS)) found in many people with this syndrome. Studies suggest that deletion of
LIMK1,
GTF2I,
GTF2IRD1, and perhaps other genes may help explain the characteristic difficulties with visual–spatial tasks. Additionally, there's evidence that the loss of several of these genes, including
CLIP2, may contribute to the unique behavioral characteristics, learning disabilities, and other cognitive difficulties seen in Williams syndrome.
In popular culture
Williams syndrome was featured in a of entitled "Savant," in which a girl with the condition is the only witness to the attack of her mother. The girl didn't see the attacker but heard him speak, and her absolute pitch helped the police catch her mother's assailant.
In the
Wes Anderson film
The Royal Tenenbaums, the character of Dudley has fictional Heinsbergen Syndrome, which features many similarities with Williams syndrome. Dudley has difficulty understanding spatial relations (dyslexia, colorblindness, inability to solve puzzles) coupled with an acute sense of hearing.
In the season 4 episode 13,
No More Mr. Nice Guy, of the television program
House, Dr. House incorrectly diagnosed a patient with Williams syndrome based on a suspected genetic inability to identify suspect causes, leading to the patient's "niceness".
Further Information
Get more info on 'Williams Syndrome'.
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