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 Williams syndrome caused by?
Williams syndrome is caused by
a partial deletion of up to 28 genes on chromosome 7
. This means that a section of genetic material on chromosome 7 is missing. It is believed that some of these genes are involved in the production of elastin.
What are the signs and symptoms of Williams syndrome?
- Wide forehead.
- Bridge of the nose is flattened.
- Short nose with a large tip.
- Wide mouth with full lips.
- Small chin.
- Small, widely spaced teeth.
- Missing or crooked teeth.
- Uneven eyes.
What is the life expectancy of a child with Williams syndrome?
What Is the Life-Expectancy of Williams Syndrome? Is There a Cure? The average loss of lifespan or life expectancy is estimated to be
about 10-20 years
, but there is a lack of data to confirm this.
Can Williams syndrome be cured?
People with WS require regular cardiovascular monitoring for potential medical problems, such as symptomatic narrowing of the blood vessels, high blood pressure, and heart failure.
There is no cure for Williams syndrome
, nor is there a standard course of treatment.
Can you live a normal life 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.
At what age is Williams syndrome diagnosed?
This disorder is usually observed before the
child reaches the age of 4 years
. In some cases, it may not be diagnosed until the child starts school.
Is Williams syndrome a form of autism?
Autism and Williams syndrome
are genetically based neurodevelopmental disorders that present strikingly different social phenotypes. Autism involves fundamental impairments in social reciprocity and communication, whereas people with Williams syndrome are highly sociable and engaging.
What is the difference between Down syndrome and Williams syndrome?
Williams syndrome and Down syndrome are both chromosomal disorders affecting people from birth. However, Williams syndrome is caused by a missing chromosome, while
Down syndrome is caused by an extra chromosome
.
What is an elfin face?
Elfin (Elven) facies is a
form of facies where the patient presents with facial characteristics bearing some similarities
to those traditionally associated with elves. It is characterized by prominent forehead, widely spaced eyes, upturned nose, underdeveloped mandible, dental hypoplasia, and patulous lips.
Can someone with Williams syndrome get pregnant?
If a parent has Williams syndrome, the
possibility of giving birth to a child with WS is 50%
, and that does not change for future pregnancies.
Does Williams syndrome run in families?
Most cases of Williams syndrome
are not inherited
but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. These cases occur in people with no history of the disorder in their family.
Does Williams syndrome qualify for disability?
Williams Syndrome is considered to be a disability
, however you cannot immediately claim SSI if your child has it because it’s not a listing claim.
How is Williams syndrome 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 right for you. Ask what your chances are of having a child with the condition.
Can people with Williams syndrome work?
Most adults with Williams syndrome thrive
on opportunities to “give back”
and make a difference in their communities. Meaningful employment and/or volunteer opportunities are a natural way to give back.
How does Williams syndrome affect the brain?
MRI studies of WS have demonstrated a series of brain abnormalities, including
decreased brain size
, with a relatively greater decrease in the volume of the cerebral white matter volume as compared to the cerebral gray matter.
