Williams syndrome is a rare genetic condition
(estimated to occur in 1/7,500 births) which causes
medical and developmental problems. It is present
at birth, and affects males and females equally. It
can occur in all ethnic groups and has been
identified in countries throughout the world.
Common features of Williams syndrome?
Facial appearance
Most young children with Williams syndrome are
described as having similar facial features. These
features which tend to be recognised by only a
trained geneticist or birth defects specialist, include
a small upturned nose, long upper lip length, wide
mouth, full lips, small chin, and puffiness around the
eyes. Blue and green-eyed children with Williams
syndrome can have a prominent "starburst" or white
lacy pattern on their iris. Facial features become
more apparent with age.
Developmental delay, learning disabilities and
attention deficit
Most people with Williams syndrome have some
degree of intellectual handicap. Young children with
Williams syndrome often experience developmental
delays; milestones such as walking, talking and
toilet training are often achieved somewhat later
than is considered normal. Distractibility is a
common problem in mid-childhood, which appears
to get better as the children get older.
Older children and adults with Williams syndrome
often demonstrate intellectual "strengths and
weaknesses." There are some intellectual areas
(such as speech, long term memory, and social
skills) in which performance is quite strong, while
other intellectual areas (such as fine motor and
spatial relations) are significantly deficient.
Overly friendly (excessively social) personality
Individuals with Williams syndrome have a very
endearing personality. They have a unique strength
in their expressive language skills, and are
extremely polite. They are typically unafraid of
strangers and show a greater interest in contact
with adults than with their peers.
Heart and blood vessel problems
The majority of individuals with Williams syndrome
have some type of heart or blood vessel problem.
Typically, there is narrowing in the aorta or
narrowing in the pulmonary arteries. There is a
broad range in the degree of narrowing, ranging
from trivial to severe (requiring surgical correction of
the defect). Since there is an increased risk for
development of blood vessel narrowing or high
blood pressure over time, periodic monitoring of
cardiac status is necessary.
Hypercalcemia -elevated blood calcium levels
Some young children with Williams syndrome have
elevations in their blood calcium level. The true
frequency and cause of this problem is unknown.
When hypercalcemia is present, it can cause
extreme irritability or "colic-like" symptoms.
Occasionally, dietary or medical treatment is
needed. In most cases, the problem resolves on its
own during childhood, but lifelong abnormality in
calcium or Vitamin D metabolism may exist and
should be monitored.
Low birth-weight / low weight gain/feeding
problems
Most children with Williams syndrome have a slightly
lower birth-weight. Slow weight gain, especially
during the first several years of life, is also a
common problem and many children are diagnosed
as "failure to thrive". Adult stature is slightly smaller
than average. Many infants and young children
have feeding problems. These problems have been
linked to low muscle tone, severe gag reflex, poor
suck/swallow, tactile defensiveness etc. Feeding
difficulties tend to resolve as the children get older.
Irritability (colic during infancy)
Many infants with Williams syndrome have an
extended period of colic or irritability. This typically
lasts from 4 to 10 months of age, then resolves. It is
sometimes attributed to hypercalcemia. Abnormal
sleep patterns with delayed acquisition of sleeping
through the night may be associated with the colic.
Dental abnormalities
Slightly small, widely spaced teeth are common in
children with Williams syndrome. They also may
have a variety of abnormalities of occlusion (bite),
tooth shape or appearance. Most of these dental
changes are readily amenable to orthodontic
correction.
Kidney abnormalities
There is a slightly increased frequency of problems
with kidney structure and/or function.
Hernias
Inguinal (groin) and umbilical hernias are more
common in Williams syndrome than in the general
population.
Hyperacusis (sensitive hearing)
Children with Williams syndrome often have more
sensitive hearing than other children; Certain
frequencies or noise levels can be painful an/or
startling to the individual. This condition often
improves with age.
Musculoskeletal problems
Young children with Williams syndrome often have
low muscle tone and joint laxity. As the children get
older, joint stiffness (contractures) may develop.
Physical therapy is very helpful in improving muscle
tone, strength and joint range of motion.
(estimated to occur in 1/7,500 births) which causes
medical and developmental problems. It is present
at birth, and affects males and females equally. It
can occur in all ethnic groups and has been
identified in countries throughout the world.
Common features of Williams syndrome?
Facial appearance
Most young children with Williams syndrome are
described as having similar facial features. These
features which tend to be recognised by only a
trained geneticist or birth defects specialist, include
a small upturned nose, long upper lip length, wide
mouth, full lips, small chin, and puffiness around the
eyes. Blue and green-eyed children with Williams
syndrome can have a prominent "starburst" or white
lacy pattern on their iris. Facial features become
more apparent with age.
Developmental delay, learning disabilities and
attention deficit
Most people with Williams syndrome have some
degree of intellectual handicap. Young children with
Williams syndrome often experience developmental
delays; milestones such as walking, talking and
toilet training are often achieved somewhat later
than is considered normal. Distractibility is a
common problem in mid-childhood, which appears
to get better as the children get older.
Older children and adults with Williams syndrome
often demonstrate intellectual "strengths and
weaknesses." There are some intellectual areas
(such as speech, long term memory, and social
skills) in which performance is quite strong, while
other intellectual areas (such as fine motor and
spatial relations) are significantly deficient.
Overly friendly (excessively social) personality
Individuals with Williams syndrome have a very
endearing personality. They have a unique strength
in their expressive language skills, and are
extremely polite. They are typically unafraid of
strangers and show a greater interest in contact
with adults than with their peers.
Heart and blood vessel problems
The majority of individuals with Williams syndrome
have some type of heart or blood vessel problem.
Typically, there is narrowing in the aorta or
narrowing in the pulmonary arteries. There is a
broad range in the degree of narrowing, ranging
from trivial to severe (requiring surgical correction of
the defect). Since there is an increased risk for
development of blood vessel narrowing or high
blood pressure over time, periodic monitoring of
cardiac status is necessary.
Hypercalcemia -elevated blood calcium levels
Some young children with Williams syndrome have
elevations in their blood calcium level. The true
frequency and cause of this problem is unknown.
When hypercalcemia is present, it can cause
extreme irritability or "colic-like" symptoms.
Occasionally, dietary or medical treatment is
needed. In most cases, the problem resolves on its
own during childhood, but lifelong abnormality in
calcium or Vitamin D metabolism may exist and
should be monitored.
Low birth-weight / low weight gain/feeding
problems
Most children with Williams syndrome have a slightly
lower birth-weight. Slow weight gain, especially
during the first several years of life, is also a
common problem and many children are diagnosed
as "failure to thrive". Adult stature is slightly smaller
than average. Many infants and young children
have feeding problems. These problems have been
linked to low muscle tone, severe gag reflex, poor
suck/swallow, tactile defensiveness etc. Feeding
difficulties tend to resolve as the children get older.
Irritability (colic during infancy)
Many infants with Williams syndrome have an
extended period of colic or irritability. This typically
lasts from 4 to 10 months of age, then resolves. It is
sometimes attributed to hypercalcemia. Abnormal
sleep patterns with delayed acquisition of sleeping
through the night may be associated with the colic.
Dental abnormalities
Slightly small, widely spaced teeth are common in
children with Williams syndrome. They also may
have a variety of abnormalities of occlusion (bite),
tooth shape or appearance. Most of these dental
changes are readily amenable to orthodontic
correction.
Kidney abnormalities
There is a slightly increased frequency of problems
with kidney structure and/or function.
Hernias
Inguinal (groin) and umbilical hernias are more
common in Williams syndrome than in the general
population.
Hyperacusis (sensitive hearing)
Children with Williams syndrome often have more
sensitive hearing than other children; Certain
frequencies or noise levels can be painful an/or
startling to the individual. This condition often
improves with age.
Musculoskeletal problems
Young children with Williams syndrome often have
low muscle tone and joint laxity. As the children get
older, joint stiffness (contractures) may develop.
Physical therapy is very helpful in improving muscle
tone, strength and joint range of motion.
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