WHAT IS WILLIAMS SYNDROME?
Williams syndrome is a rare disorder that affects development and different parts of the body including blood vessels, heart, and joints. It is characterized by intellectual disability and distinct facial features. About 1 in 7,500 to 18,000 people are affected by Williams syndrome.
WHAT CAUSES WILLIAMS SYNDROME?
Williams Syndrome is caused by the deletion of genetic material from a specific region of chromosome 7, which affects a gene responsible for producing a protein called elastin. Elastin is very important for the strength and flexibility of blood vessels.
HOW IS WILLIAMS SYNDROME DIAGNOSED?
There is no routine screening for Williams syndrome in newborns. Diagnosis is usually based on the presence of specific facial features and the other common medical problems seen with the condition. A special genetic test called fluorescein-in-situ hybridization can be used to confirm the diagnosis.
WHAT ARE THE FEATURES OF WILLIAMS SYNDROME?
There are many characteristic features associated with Williams syndrome:
· Facial features include: puffy eyes, a short nose, wide mouth, full lips, full cheeks, and a small chin (see Figure 1).
· Skeletal features include: short stature, sloping shoulders, long neck, and limited joint movement.
· Other development features include: strong verbal abilities, highly social personalities, and a love for music.
Fig. 1: Characteristic facial features of Williams Syndrome include puffiness around the eyes, short nose, wide mouth, full lips, full cheeks and a small chin.
WHERE CAN I GET MORE INFORMATION ABOUT williams SYNDROME?
Updated 01/2021
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