Williams Syndrome

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by Eileen Bailey
Monday, October 12, 2009

Williams Syndrome is a genetic disorder that occurs in approximately 1 out of every 8000 births. It is caused by a deletion of chromosome 7. This may occur randomly, with no family history of Williams Syndrome, however, once it occurs, parents with Williams Syndrome have a 50 percent chance of passing it on to their children.

Diagnosis and Detection

Although there are a number of facial and physical characteristics associated with Williams Syndrome, these are not always readily apparent, especially in infants and young children. Therefore, diagnosis is sometimes delayed. According to one recent study, parents showed concern over developmental issues when children were slightly less than one year old, however, diagnosis, on average, did not occur until past three and one half years old.

Signs that can occur in infancy include supravavular aortic stenosis (narrowing of the aorta) and hypercalcemia (high calcium levels in the blood). These conditions make diagnosis in infancy easier, however, not all children have these symptoms.

Besides recognizing the physical characteristics of Williams Syndrome, diagnosis can be confirmed through genetic testing, called the FISH test. Additional testing can include:

• Echocardiography with Doppler ultrasound
• Checking kidneys with ultrasound (increased frequency of kidney abnormalities)

Children with Williams Syndrome can also have high blood pressure, farsightedness and a star like pattern on the iris of the eye.

Infants may have difficulties feeding, be colicky or have reflux or a difficult time keeping food down. Some infants with Williams Syndrome have been mistakenly diagnosed with Failure to Thrive.

Physical Signs of Williams Syndrome

There are some physical characteristics of Williams Syndrome:

• Puffiness around eyes
• Small nose with upturned tip
• Wide mouth
• Full cheeks and lips
• Small chin
• Long neck
• Sloping shoulders
• Short stature
• Curvature of the spine

Many of the facial characteristics of Williams Syndrome may be difficult to see as infants but become more pronounced as children grow.  

Emotional and Mental Characteristics

Individuals with Williams Syndrome may have either mild to moderate cognitive impairments or learning disabilities and have an increased risk of having Attention Deficit Hyperactivity Disorder (ADHD).

Some of the specific problems include:

• Delayed speech early (but strong expressive language skills later)
• Developmental delays
• Easily distracted
• Learning disabilities
• Mild to moderate cognitive impairment
• Anxiety disorders, specifically phobias (for example loud noises) and excessive worrying

They are usually overly friendly with an excessively social and endearing personality. Although speech may have been delayed, many develop strong expressive language skills later and are very polite. Children with Williams Syndrome may not be afraid of strangers and may more easily relate to adults rather than their peers.