Quick Facts about Williams Syndrome
1. What Causes It?
Williams syndrome is caused by a microdeletion
of about 26–28 genes on chromosome 7, including the elastin gene (ELN) and
others like GTF2I and LIMK1 Williams Syndrome AssociationWikipediamedlineplus.gov.
2. How Common Is It?
It affects approximately 1 in 7,500 to 10,000
births globally, equally in males and females and across all ethnic groups Williams Syndrome AssociationWikipedia.
3. Typical Features
Facial features: broad forehead, flattened
nasal bridge, full cheeks, small chin, widely spaced or missing teeth .
Growth and physical traits: low birth weight,
short stature, low muscle tone, loose joints (that may stiffen over time),
hernias, and kidney or gastrointestinal issues betterhealth.vic.gov.auWikipedia.
4. Medical Concerns
Cardiac issues are common, especially supravalvular
aortic stenosis and narrowed blood vessels, as well as hypercalcemia in infancy
and potential hypertension and diabetes in adults Wikipediabrainfacts.orgmedicalnewstoday.com.
Many individuals experience hearing
sensitivity (hyperacusis) and vision issues, including strabismus and
refractive errors Wikipediabetterhealth.vic.gov.au.
5. Cognitive and Behavioral Profile
Most have mild to moderate intellectual
disabilities, particularly difficulties with visual-spatial tasks and attention
WikipediaWikipedia.
In contrast, they typically exhibit strong
verbal skills, high sociability, empathy, and a distinctive “cocktail party”
personality—overly friendly even toward strangers Wikipediabrainfacts.org.
Many have a deep affinity for music, often
showing absolute pitch and strong rhythmic abilities fr.wikipedia.orgmedicalnewstoday.com.
They often don’t pick up social cues or subtle
biases—some studies suggest this explains a notable lack of racial bias in
individuals with WS wired.com.
6. Diagnosis
Suspected based on physical features,
developmental delays, or heart issues.
Confirmed with genetic testing via FISH or chromosomal
microarray, detecting deletion at 7q11.23 in over 95% of clinical cases es.wikipedia.orgWilliams Syndrome Associationmedlineplus.gov.
7. Prognosis and Living with WS
No cure, but therapies—including speech,
occupational, physical, and sometimes music therapy—help manage developmental
and motor challenges healthline.commedicalnewstoday.com.
Most individuals benefit from educational
planning (IEP in the U.S.) and ongoing medical care, especially cardiology
follow‑ups verywellhealth.comncbi.nlm.nih.gov.
Life expectancy is somewhat reduced, largely
due to cardiovascular complications; individuals often need some level of
lifelong support or community integration self.comWikipedia.
✅ Likely Quiz Answers
Pattern
While I don’t have the exact answer key to
that GotoQuiz, here’s how typical true/false or multiple-choice questions would
likely be answered:
True: Individuals often have difficulty with
fine motor skills.
True: Diagnosis involves blood and DNA tests
such as FISH or microarray.
False: Not all with WS have intellectual
disability (severity varies, but most do have mild–moderate delays).
False: Individuals with WS are not more common
in specific cultures—all ethnicities affected equally.
False: There is no cure for Williams syndrome.
False: Chance of passing WS is ~50% (not 60%)
and most cases are not inherited, but occur spontaneously.
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