▲ Williams Syndrome ▲

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Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.

》People with Williams syndrome typically have difficulty with visual-spatial tasks such as drawing and assembling puzzles, but they tend to do well on tasks that involve spoken language, music, and learning by repetition (rote memorization). Affected individuals have outgoing, engaging personalities and tend to take an extreme interest in other people. Attention deficit disorder (ADD), problems with anxiety, and phobias are common among people with this disorder.

》The adaptive behavior profile for Williams syndrome involves clear strength in socialization skills (especially interpersonal skills related to initiating social interaction), strength in communication, and clear weakness in daily living skills and motor skills, relative to overall level of adaptive behavior functioning.

Williams syndrome is caused by not having a copy of 25 to 27 genes on chromosome number 7.
In most cases, the gene changes (mutations) occur on their own, either in the sperm or egg that a baby develops from.
However, once someone carries the genetic change, their children have a 50% chance of inheriting it.


Symptoms of Williams syndrome are:

inappropriate increase in social behavior. People with the syndrome may be overly friendly, even to strangers.

Feeding problems, including colic, reflux, and vomiting

Inward bend of the small finger

Sunken chest

Heart disease or blood vessel problems

Developmental delay, mild to moderate intellectual disability, learning disorders

Delayed speech that may later turn into strong speaking ability and strong learning by hearing

Easily distracted, attention deficit hyperactivity disorder (ADHD)

Personality traits including being very friendly, trusting strangers, fearing loud sounds or physical contact, and being interested in music

Short, compared to the rest of the person's family

The face and mouth of someone with Williams syndrome may show:

A flattened nasal bridge with small upturned nose

Long ridges in the skin that run from the nose to the upper lip

Prominent lips with an open mouth

Skin that covers the inner corner of the eye

Partially missing teeth, defective tooth enamel, or small, widely spaced teeth


Tests for Williams syndrome include:

Blood pressure check

Genetic testing, such as a blood test for a missing piece of chromosome 7 (FISH test or microarray)

Urine and blood tests for calcium level

Echocardiography combined with Doppler
ultrasound

Kidney ultrasound

Williams syndrome is a rare condition that occurs in an estimated 1 in every 10,000 births in the United States.

》Since Williams syndrome is a genetic condition caused by a chromosome change, not inherited from a parent, there is typically no way to prevent it. If you are planning on becoming pregnant and want to understand the risks of having a child with a genetic condition, talk with your healthcare provider about genetic testing.

There is no cure for Williams syndrome. However the following tips may help symptoms:

Avoid taking extra calcium and vitamin D.

Treat high blood calcium if it occurs.

Blood vessel narrowing can be a major health problem. Be aware.

Treatment is based on how severe it is.

Physical therapy is helpful for people with joint
stiffness.

Developmental and speech therapy can also help. For example, having strong verbal skills can help make up for other weaknesses.

Other treatments are based on the person's symptoms.

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