Can you have Williams syndrome without knowing?

Many individuals with Williams syndrome remain undiagnosed or are diagnosed at a relatively late age. This is of concern since individuals with Williams syndrome can have significant and possibly progressive medical problems.

What are the major symptoms of Williams syndrome?

What are the symptoms of Williams syndrome?

specific facial features like a wide mouth, small upturned nose, widely spaced teeth, and full lips.
colic or feeding problems.
attention deficit hyperactivity disorder (ADHD)
learning disorders.
inward bend of pinky finger.
specific phobias.
short stature.
speech delays.

Do any famous people have Williams syndrome?

One notable person with the syndrome is Gabrielle Marion-Rivard, a Canadian actress and singer who won the Canadian Screen Award for Best Actress in 2014 for her performance in the film Gabrielle.

What is Pixie syndrome?

Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age.

What is the lifespan of someone with Williams syndrome?

Some people with Williams syndrome may have a reduced life expectancy due to complications of the disease (such as cardiovascular involvement). No studies specifically exist on life expectancy, although individuals have been reported to live into their 60s.

What are some facts about Williams syndrome?

Here are the top interesting facts about Williams syndrome: 1 Williams syndrome (WS), also known as Williams-Beuren syndrome, is a type of rare genetic disorder which commonly occurs as a random event during the formation of the sperm or egg from which a baby develops. 2 The syndrome is characterized by mental retardation or moderate learning…

What are the causes of Williams syndrome?

Williams syndrome is caused by the spontaneous deletion of 26-28 genes on chromosome #7. The deletion occurs in either the egg or the sperm used to form the child with Williams syndrome.

What is the treatment for Williams syndrome?

Treatment options for Williams syndrome. There is no cure for Williams syndrome. Treatment involves easing the symptoms connected to the syndrome. Narrowed blood vessels can be treated if they cause symptoms. Physical therapy and speech therapy can also be beneficial.

Is Williams syndrome a karyotype?

A standard karyotype may be performed because a negative FISH result for Williams syndrome does not exclude the possibility of an underlying chromosomal abnormality, and chromosomal translocation in the region affected by Williams syndrome has been reported.

Can you have Williams syndrome without knowing? Many individuals with Williams syndrome remain undiagnosed or are diagnosed at a relatively late age. This is of concern since individuals with Williams syndrome can have significant and possibly progressive medical problems. What are the major symptoms of Williams syndrome? What are the symptoms of Williams syndrome? specific…