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Hub AI
Williams syndrome AI simulator
(@Williams syndrome_simulator)
Hub AI
Williams syndrome AI simulator
(@Williams syndrome_simulator)
Williams syndrome
Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. Mild to moderate intellectual disability is observed, particularly challenges with visual spatial tasks such as drawing. Verbal skills are relatively unaffected. Many people have an outgoing personality, a happy disposition, an openness to engaging with other people, increased empathy and decreased aggression. Medical issues with teeth, heart problems (especially supravalvular aortic stenosis), and periods of high blood calcium are common.
Williams syndrome is caused by a genetic abnormality, specifically a deletion of about 27 genes from the long arm of one of the two chromosome 7s. Typically, this occurs as a random event during the formation of the egg or sperm from which a person develops. In a small number of cases, it is inherited from an affected parent in an autosomal dominant manner. The different characteristic features have been linked to the loss of specific genes. The diagnosis is typically suspected based on symptoms and confirmed by genetic testing.
Interventions include special education programs and various types of therapy. Surgery may be done to correct heart problems. Dietary changes or medications may be required for high blood calcium. The syndrome was first described in 1961 by New Zealander John C. P. Williams. Williams syndrome affects between one in 7,500 to 20,000 people at birth. Life expectancy is less than that of the general population, mostly due to the increased rates of heart disease.
The most common symptoms of Williams syndrome are heart defects and unusual facial features. Other symptoms include failure to gain weight appropriately in infancy and low muscle tone. People with WS tend to have widely spaced teeth, a long philtrum, and a flattened nasal bridge. Microcephaly is present in one-third of affected individuals.
Most people with WS are highly verbal relative to their intelligence, and are often very sociable, having what has been described as a "cocktail party"-type personality. People with Williams syndrome hyperfocus on the eyes of others in social engagements.
People with Williams syndrome experience many cardiac problems, commonly heart murmurs and the narrowing of major blood vessels, as well as supravalvular aortic stenosis. Other symptoms may include gastrointestinal problems, such as severe or prolonged colic, abdominal pain and diverticulitis, nocturnal enuresis (bed wetting) and urinary difficulties, dental irregularities and defective tooth enamel, and hormone problems, the most common being hypercalcemia. Hypothyroidism has been reported to occur in children, although no proof has been found of it occurring in adults; adults with WS have a higher risk of developing type 2 diabetes, with some cases apparent as young as 21 years old.
People with WS often have hyperacusia and phonophobia, which resembles noise-induced hearing loss; however, this may be due to a malfunctioning auditory nerve. People with WS also tend to demonstrate a love of music, and they appear significantly more likely to possess absolute pitch. Also, higher prevalences of left-handedness and left-eye dominance seem to occur.
Ophthalmologic issues are common among people with WS. Up to 75% of subjects in some studies have strabismus (ocular misalignment), particularly esotropia, due to inherent subnormal binocular visual function and cognitive deficits in visuospatial construction. People with WS have problems with visual processing, but this is related to difficulty in dealing with complex spatial relationships rather than depth perception per se.
Williams syndrome
Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. Mild to moderate intellectual disability is observed, particularly challenges with visual spatial tasks such as drawing. Verbal skills are relatively unaffected. Many people have an outgoing personality, a happy disposition, an openness to engaging with other people, increased empathy and decreased aggression. Medical issues with teeth, heart problems (especially supravalvular aortic stenosis), and periods of high blood calcium are common.
Williams syndrome is caused by a genetic abnormality, specifically a deletion of about 27 genes from the long arm of one of the two chromosome 7s. Typically, this occurs as a random event during the formation of the egg or sperm from which a person develops. In a small number of cases, it is inherited from an affected parent in an autosomal dominant manner. The different characteristic features have been linked to the loss of specific genes. The diagnosis is typically suspected based on symptoms and confirmed by genetic testing.
Interventions include special education programs and various types of therapy. Surgery may be done to correct heart problems. Dietary changes or medications may be required for high blood calcium. The syndrome was first described in 1961 by New Zealander John C. P. Williams. Williams syndrome affects between one in 7,500 to 20,000 people at birth. Life expectancy is less than that of the general population, mostly due to the increased rates of heart disease.
The most common symptoms of Williams syndrome are heart defects and unusual facial features. Other symptoms include failure to gain weight appropriately in infancy and low muscle tone. People with WS tend to have widely spaced teeth, a long philtrum, and a flattened nasal bridge. Microcephaly is present in one-third of affected individuals.
Most people with WS are highly verbal relative to their intelligence, and are often very sociable, having what has been described as a "cocktail party"-type personality. People with Williams syndrome hyperfocus on the eyes of others in social engagements.
People with Williams syndrome experience many cardiac problems, commonly heart murmurs and the narrowing of major blood vessels, as well as supravalvular aortic stenosis. Other symptoms may include gastrointestinal problems, such as severe or prolonged colic, abdominal pain and diverticulitis, nocturnal enuresis (bed wetting) and urinary difficulties, dental irregularities and defective tooth enamel, and hormone problems, the most common being hypercalcemia. Hypothyroidism has been reported to occur in children, although no proof has been found of it occurring in adults; adults with WS have a higher risk of developing type 2 diabetes, with some cases apparent as young as 21 years old.
People with WS often have hyperacusia and phonophobia, which resembles noise-induced hearing loss; however, this may be due to a malfunctioning auditory nerve. People with WS also tend to demonstrate a love of music, and they appear significantly more likely to possess absolute pitch. Also, higher prevalences of left-handedness and left-eye dominance seem to occur.
Ophthalmologic issues are common among people with WS. Up to 75% of subjects in some studies have strabismus (ocular misalignment), particularly esotropia, due to inherent subnormal binocular visual function and cognitive deficits in visuospatial construction. People with WS have problems with visual processing, but this is related to difficulty in dealing with complex spatial relationships rather than depth perception per se.
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