in PLAIN ENGLISH (no links) what is Williams Syndrome?

Answer 1

Hi Williams disease is a syndrome, involving the 7th chromosome,

Williams syndrome is a rare congenital disorder, they usually have a low IQ (Intelligence Quotient), but have unreal musical and verbal skills. Their appearance is elfin like, they have heart and blood vessel problems, also dental and kidney abnormalities.

Life expectancy can be shortened due to complications related to the syndrome.

I know you did not want any links, but I can not give you an in depth definition of William Syndrome with out listing my source.

So I have included a link for you

Answer 2

It is characterized by a distinctive, "elfish" 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 an unusual facility with language; a love for music; and cardiovascular problems, such as supravalvular aortic stenosis and transient hypercalcemia. Williams syndrome shares some features with autism (such as difficulty understanding the state of mind of conversational partners[1]), although persons with Williams generally possess very good social skills, such that this condition is sometimes called "cocktail-party syndrome". Temple Grandin, author of Thinking in Pictures, has claimed that the brain abnormalities of Williams syndrome are the opposite of those of autism.[2] There also appears to be a higher prevalence of left-handedness and left-eye dominance in those with Williams.[3]

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. 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 partly 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 would have an effect on the visual systems of the tested individuals.

Answer 3

It is characterized by a distinctive, "elfish" 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 an unusual facility with language; a love for music; and cardiovascular problems, such as supravalvular aortic stenosis and transient hypercalcemia. Williams syndrome shares some features with autism (such as difficulty understanding the state of mind of conversational partners[1]), although persons with Williams generally possess very good social skills, such that this condition is sometimes called "cocktail-party syndrome". Temple Grandin, author of Thinking in Pictures, has claimed that the brain abnormalities of Williams syndrome are the opposite of those of autism.[2] There also appears to be a higher prevalence of left-handedness and left-eye dominance in those with Williams.[3]

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. 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 partly 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 would have an effect on the visual systems of the tested individuals.

Answer 4

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

[Symptoms
It is characterized by a distinctive, "elfish" 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 an unusual facility with language; a love for music; and cardiovascular problems, such as supravalvular aortic stenosis and transient hypercalcemia. Williams syndrome shares some features with autism (such as difficulty understanding the state of mind of conversational partners[1]), although persons with Williams generally possess very good social skills, such that this condition is sometimes called "cocktail-party syndrome". Temple Grandin, author of Thinking in Pictures, has claimed that the brain abnormalities of Williams syndrome are the opposite of those of autism.[2] There also appears to be a higher prevalence of left-handedness and left-eye dominance in those with Williams.[3]

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. 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 partly 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 would have an effect on the visual systems of the tested individuals.

Causes
Williams syndrome is caused by the deletion of genetic material from the region q11.2 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 supravalvular aortic stenosis (SVAS) and supravalvular pulmonary stenosis (SVPS)) 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.

The relationship between other genes in the deleted region and the signs and symptoms of Williams syndrome is unknown.

Answer 5

It is a birth defect or a screw up with the chromosomes, creating kidney and muscle problems. It is not common. I have never met someone with it nor seen any books on it, it sounds like it coud very in degree of badness.

I hope that helps and was in plain English.

Answer 6

A disorder characterized by distinctive facies with shallow supraorbital ridges, medial eyebrow flare, stellate patterning of the irises, small nose with anteverted nares, malar hypoplasia with droopy cheeks, full lips, supravalvar aortic stenosis, neonatal hypocalcemia, mild mental retardation, and loquacious personality. Autosomal dominant inheritance; this is a contiguous gene deletion syndrome and one of the genes mutated is the elastin gene (ELN) on chromosome 7q. Syn: elfin facies syndrome

Answer 7

is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, varying levels of mental deficiency, and distinctive facial abnormalities that typically become more pronounced with age. Characteristic facial features may include a round face, full cheeks, thick lips, a large mouth that is usually held open, and a broad nasal bridge with nostrils that flare forward (anteverted nares).

Answer 8

Did you really mean Williams Syndrome? or Von Willebrands Disease?

Answer 9

It is a genetic disease with some common characteristics such as mental retardation, heart abnormalities, excess calcium in the blood (at times) and a characteristic facial appearance.

read more about it here: (if you want to)http://en.wikipedia.org/wiki/Williams_syndrome

Answer 10

Williams syndrome is a rare genetic condition (estimated to occur in 1/7,500 births) which causes medical and developmental problems.

The following are common features of williams syndrome

Characteristic facial appearance

Most young children with Williams syndrome are described as having similar facial features. These features which tend to be recognized by only a trained geneticist or birth defects specialist, include a small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin, and puffiness around the eyes. Blue and green-eyed children with Williams syndrome can have a prominent "starburst" or white lacy pattern on their iris. Facial features become more apparent with age.

Heart and blood vessel problems

The majority of individuals with Williams syndrome have some type of heart or blood vessel problem. Typically, there is narrowing in the aorta (producing supravalvular aortic stenos is SVAS), or narrowing in the pulmonary arteries. There is a broad range in the degree of narrowing, ranging from trivial to severe (requiring surgical correction of the defect). Since there is an increased risk for development of blood vessel narrowing or high blood pressure over time, periodic monitoring of cardiac status is necessary.
Hypercalcemia (elevated blood calcium levels)

Some young children with Williams syndrome have elevations in their blood calcium level. The true frequency and cause of this problem is unknown. When hypercalcemia is present, it can cause extreme irritability or "colic-like" symptoms. Occasionally, dietary or medical treatment is needed. In most cases, the problem resolves on its own during childhood, but lifelong abnormality in calcium or Vitamin D metabolism may exist and should be monitored.

Low birth-weight / low weight gain

Most children with Williams syndrome have a slightly lower birth-weight than their brothers or sisters. Slow weight gain, especially during the first several years of life, is also a common problem and many children are diagnosed as "failure to thrive". Adult stature is slightly smaller than average.

Feeding problems

Many infants and young children have feeding problems. These problems have been linked to low muscle tone, severe gag reflex, poor suck/swallow, tactile defensiveness etc. Feeding difficulties tend to resolve as the children get older.

Irritability (colic during infancy)

Many infants with Williams syndrome have an extended period of colic or irritability. This typically lasts from 4 to 10 months of age, then resolves. It is sometimes attributed to hypercalcemia. Abnormal sleep patterns with delayed acquisition of sleeping through the night may be associated with the colic.

Dental abnormalities

Slightly small, widely spaced teeth are common in children with Williams syndrome. They also may have a variety of abnormalities of occlusion (bite), tooth shape or appearance. Most of these dental changes are readily amenable to orthodontic correction.

Kidney abnormalities

There is a slightly increased frequency of problems with kidney structure and/or function.

Hernias

Inguinal (groin) and umbilical hernias are more common in Williams syndrome than in the general population.

Hyperacusis (sensitive hearing)

Children with Williams syndrome often have more sensitive hearing than other children; Certain frequencies or noise levels can be painful an/or startling to the individual. This condition often improves with age.

Musculoskeletal problems

Young children with Williams syndrome often have low muscle tone and joint laxity. As the children get older, joint stiffness (contractures) may develop. Physical therapy is very helpful in improving muscle tone, strength and joint range of motion.

Overly friendly (excessively social) personality

Individuals with Williams syndrome have a very endearing personality. They have a unique strength in their expressive language skills, and are extremely polite. They are typically unafraid of strangers and show a greater interest in contact with adults than with their peers.

Developmental delay, learning disabilities and attention deficit

Most people with Williams syndrome have some degree of intellectual handicap. Young children with Williams syndrome often experience developmental delays; milestones such as walking, talking and toilet training are often achieved somewhat later than is considered normal. Distractibility is a common problem in mid-childhood, which appears to get better as the children get older.
Older children and adults with Williams syndrome often demonstrate intellectual "strengths and weaknesses." There are some intellectual areas (such as speech, long term memory, and social skills) in which performance is quite strong, while other intellectual areas (such as fine motor and spatial relations) are significantly deficient.


hope this helps