Williams syndrome was originally described independently by Williams and Beuren in 1961. Williams syndrome causes medical and developmental problems.
If you have any comments regarding any inaccuracies that you may think appear on this page then please email us with any references that may be checked.
Williams syndrome occurs between 1 in 7,500 to 1 in 20,000 births.
What is Williams Syndrome?
Williams Syndrome (WS; also known as Williams-Beuren syndrome or WBS) is a rare genetic disorder characterised by mild to moderate mental retardation or learning difficulties, a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety. 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. The most significant medical problem associated with Williams syndrome is cardiovascular disease caused by narrowed arteries. Williams syndrome is also associated with elevated blood calcium levels in infancy. A random genetic mutation 7q11.23 (from the region q11.23 of chromosome 7 [deletion of a small piece of chromosome 7]), rather than inheritance, most often causes the disorder. The deleted region includes more than 20 genes:
- GTF21RD1, and
are among the genes that are typically deleted in people with Williams syndrome. The proteins that are affected are Clip2, ELN, GTF21, GTF21RD1, and LIMK1.
Researchers believe that the loss of several of these genes probably contributes to the characteristic features of this disorder.
However, individuals who have Williams syndrome have a 50 percent chance of passing it on if they decide to have children. The characteristic facial features of Williams syndrome 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 Williams syndromeare also likely to have a long neck, sloping shoulders, short stature, limited mobility in their joints, and curvature of the spine. Some individuals with Williams syndrome have a star-like pattern in the iris of their eyes. Infants with Williams syndrome are often irritable and colicky, with feeding problems that keep them from gaining weight. Chronic abdominal pain is common in adolescents and adults. By the age of 30, the majority of individuals with Williams syndrome 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. Williams syndrome 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 Williams syndrome 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 Williams syndrome worry excessively.
What are the symptoms of Williams syndrome?
Individuals with Williams syndrome are highly verbal and sociable (having what has been described as a “cocktail party” type personality), but lack common sense and typically have inhibited intelligence. Individuals with Williams syndrome hyperfocus on the eyes of others in social engagements. Phenotypically patients tend to have widely spaced teeth, a long philtrum, and flattened nasal bridge.
People with Williams syndrome often have hyperacusis and phonophobia which resembles noise-induced hearing loss, but this may be due to a malfunctioning auditory nerve. Individuals with the condition tend to demonstrate a love of music, and also appear significantly more likely to possess perfect pitch.
There also appears to be a higher prevalence of left-handedness and left-eye dominance in those with Williams. Individuals with Williams syndrome also report higher anxiety levels as well as phobia development, which may be associated with hyperacusis.
What are the common features of Williams syndrome?
- Characteristic facial appearance
- Heart and blood vessel problems (heart defect)
- Hypercalcemia (elevated blood calcium levels)
- Low birth-weight / low weight gain
- Feeding problems
- Irritability (colic during infancy)
- Dental abnormalities
- Kidney abnormalities
- Hyperacusis (sensitive hearing)
- Musculoskeletal problems
- Overly friendly (excessively social) personality
- Developmental delay, learning disabilities and attention deficit
How is Williams Syndrome Diagnosed?
Williams syndrome cannot be detected if you do not have genetic screening, to diagnose Williams syndrome a machine called fish is used. This technique allows DNA sequences to be labelled with a fluorescent chemical (called a probe) that lights up when exposed to ultraviolet (UV) light. The Williams Syndrome deletion can be detected by labelling the elastin gene with a fluorescent probe. The gene will light up under a UV light only if it is present; a lack of signal indicates a deletion. It can be detected when you just a cell big! Williams syndrome may not be detected without genetic screening but there may be signs that you have Williams syndrome like a low birth weight or hyperactiveness. If your not monitored or helped you may have heart defects that may not get treated in time.
What is the treatment for Williams syndrome?
There is no cure for Williams syndrome, nor is there a standard course of treatment this is due to Williams syndrome being an uncommon and complex disorder. However, treatments that are given are based on an individual’s particular symptoms. People with Williams syndrome 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 Williams syndrome 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 Williams syndrome in mind also help individuals maximize their potential. Medical complications associated with the disorder may shorten the lifespans of some individuals with Williams syndrome.
Is there any research is being done?
The National Institutes of Health (NIH), and the National Institute of Neurological Disorders and Stroke (NINDS), have funded many of the research studies exploring the genetic and neurobiological origins of Williams syndrome. In the early 1990s, researchers located and identified the genetic mutation responsible for the disorder: the deletion of a small section of chromosome 7 that contains approximately 25 genes. NINDS continues to support Williams syndrome researchers including, for example, groups that are attempting to link specific genes with the corresponding facial, cognitive, personality, and neurological characteristics of Williams syndrome.
Common Features in more detail
Characteristic facial appearance: Most young children with Williams syndrome are described as having similar facial features. These features which tend to be recognized by only a trained geneticist or birth defects specialist, include a small upturned nose, long philtrum (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.
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 (producing supravalvular aortic stenos is SVAS), 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: Most children with Williams syndrome have a slightly lower birth-weight than their brothers or sisters. 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.
Feeding problems: 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.
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.
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
Disclaimer: The facts and opinions shown in this article are as accurate and up to date as possible, but are provided as general “information resources”, which may not be relevant to individual persons. This article is not a substitute for individual assessment and always take advice from a doctor who is familiar with the particular person.
Consult you or your child’s physician regard the specific outlook for you or your child.