Wednesday, 30 July 2025

🌟 Quick Facts about Williams Syndrome

 

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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