What Is Williams Syndrome?
Williams syndrome, also called Williams-Beuren syndrome,
is a rare genetic disorder that causes multiple developmental problems. This
can include heart and blood vessel issues (including narrowed blood vessels),
musculoskeletal problems, and learning disabilities. According to the Williams Syndrome Association, the disorder occurs in approximately 1 in 10,000
Although a genetic link is present, a person can be
born with the syndrome without having a family history of it. According to the National Institute of Neurological Disorders and
Stroke, random genetic mutations, not
heredity, usually cause the condition. Affected individuals do, however, have a
50 percent chance of passing it on to their children.
Scientists found that a
deletion in chromosome 7 causes this condition. The deleted section contains
approximately 25 genes. The gene elastin, which gives elasticity to the blood,
is one of the missing genes. Without it, heart defects and disorders of the
circulatory system are common.
What Are the Symptoms of Williams
A syndrome is a set of symptoms that occur
together. In some medical syndromes, the condition is not always apparent when
an individual is born. As symptoms start to develop, your doctor can take note
of them and make an appropriate diagnosis. Williams syndrome is a condition
made up of specific symptoms that significantly impact health and development.
Common symptoms of the condition include:
- specific facial features like a wide
mouth, small upturned nose, widely spaced teeth, and full lips
- colic or feeding problems
- attention deficit disorder
- learning disorders
- inward bend of pinky finger
- specific phobias
- short stature
- speech delays
- sunken chest
- varying degrees of intellectual disability
- low birth weight and muscle tone
- kidney abnormalities
Personality traits common in people who have the
- an interest in
- aversion to
- being overly
- sensitivity to
How Is Williams Syndrome Diagnosed?
The condition can typically be diagnosed by
physical characteristics. The diagnosis can be confirmed by doing a test called
fluorescent in situ hybridization (FISH). This is a lab test that labels DNA
sequences with a chemical that lights up under ultraviolet light. This enables
scientists to see if the gene is missing or not.
Other tests to help diagnose the condition can
include a kidney ultrasound, blood pressure check, and an echocardiogram. Tests
can also show high blood calcium levels, high blood pressure, slack joints, and
unusual patterning in the iris of the eye.
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
Treatment is usually based on the individual’s
symptoms. There is no standard treatment protocol. Regular checkups are
necessary to evaluate the cardiovascular system and monitor any possible
People with Williams syndrome should avoid taking
extra calcium and vitamin D. This is because blood levels of these substances
are already high.
Long-Term Complications of Williams
Medical conditions can affect the lifespan of those
with Williams syndrome. Calcium deposits can cause kidney problems, and
narrowed blood vessels can cause heart failure. The majority of affected people
have some degree of intellectual disability. Learning self-help skills and
getting early intervention in school can help encourage independence. Some
people with Williams syndrome will need to live with a caregiver or in a
Can Williams Syndrome Be Prevented?
There is no known way to prevent Williams
syndrome. People with a family history of the condition can choose to undergo
genetic counseling before conceiving a child. Talk to your doctor about whether
this is appropriate for you, and what your chances are of having a child with