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Williams
Syndrome
Williams
Syndrome (WS) is a rare genetic disorder characterized
by mild to moderate mental retardation or learning
difficulties, a distinctive facial appearance, and a
unique personality that combines overfriendliness and
high levels of empathy with anxiety. The most
significant medical problem associated with WS is
cardiovascular disease caused by narrowed arteries. WS
is also associated with elevated blood calcium levels in
infancy. A random genetic mutation (deletion of a small
piece of chromosome 7), rather than inheritance, most
often causes the disorder.
However, individuals who have WS have a 50 percent
chance of passing it on if they decide to have
children.

The
characteristic facial features of WS include puffiness
around the eyes, a short nose with a broad nasal tip,
wide mouth, full cheeks, full lips, and a small chin.
People with WS are also likely to have a long neck,
sloping shoulders, short stature, limited mobility in
their joints, and curvature of the spine. Some
individuals with WS have a star-like pattern in the iris
of their eyes.
Infants with WS are often irritable and colicky, with
feeding problems that keep them from gaining
weight.
Chronic abdominal pain is common in adolescents and
adults. By age 30, the majority of individuals with WS
have diabetes or pre-diabetes and mild to moderate
sensorineural hearing loss (a form of deafness due to
disturbed function of the auditory nerve). For
some people, hearing loss may begin as early as late
childhood.
WS
also is associated with a characteristic “cognitive
profile” of mental strengths and weaknesses composed of
strengths in verbal short-term memory and language,
combined with severe weakness in visuospatial
construction (the skills used to copy patterns, draw, or
write). Within language, the strongest skills are
typically in concrete, practical vocabulary, which in
many cases is in the low average to average range for
the general population. Abstract or
conceptual-relational vocabulary is much more limited.
Most older children and adults with WS speak fluently
and use good grammar. More
than 50% of children with WS have attention deficit
disorders (ADD or ADHD), and about 50% have specific
phobias, such as a fear of loud noises. The majority of
individuals with WS worry excessively.

Is there any
treatment?
There is no cure for
Williams syndrome, nor is there a standard course of
treatment. Because WS is an uncommon and complex
disorder, multidisciplinary clinics have been
established at several centers in the United States
. Treatments are based on an
individual’s particular symptoms. People with WS
require regular cardiovascular monitoring for potential
medical problems, such as symptomatic narrowing of the
blood vessels, high blood pressure, and heart failure
What is the
prognosis?
The
prognosis for individuals with WS varies. Some degree of
mental retardation is found in most people with the
disorder.
Some adults are able to function independently, complete
academic or vocational school, and live in supervised
homes or on their own; most live with a caregiver.
Parents can increase the likelihood that their child
will be able to live semi-independently by teaching
self-help skills early. Early intervention and
individualized educational programs designed with the
distinct cognitive and personality profiles of WS in
mind also help individuals maximize their potential.
Medical complications associated with the disorder may
shorten the lifespans of some individuals with
WS. |