Williams syndrome

Williams Syndrome 2247
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A rare congenital (present from birth) genetic disorder that results in physical and developmental delays and problems.


Williams syndrome (WS) is sometimes also referred to as Williams-Beuren syndrome. The disorder was first described by J. C. P. Williams of New Zealand in 1961. WS is a genetic disorder that can be inherited but often arises through spontaneous change in a chromosome (mutation). Children with WS usually have a variety of physical problems, especially problems with hearts defects. They have "elfin" faces and usually are of short stature. Children with WS are often overfriendly and have varying intellectual disabilities, with relatively good skills in music and language.


WS is estimated to occur in about one in 20,000 births. It affects about the same number of boys and girls.

Causes and symptoms

WS is thought to be caused by a deletion of genetic information on chromosome 7. WS can be passed down from parent to child, but it often arises spontaneously. The way in which WS spontaneously arises is not clear.

Physical characteristics typical of Williams syndrome include a broad forehead, puffiness around the eyes, starburst eye pattern (usually in green or blue-eyed children), upturned nose, depressed nasal bridge, full lips, widely spaced teeth, and small chin. In addition, a child with Williams syndrome often exhibits sloping shoulders or an elongated neck. Many individuals with Williams syndrome have heart disorders, typically supravalvular aortic stenosis (SVAS), which is a narrowing of the aorta. Kidney and bladder problems are also common. Poor muscle tone and problems with the skeletal joints become evident as a child with Williams syndrome moves into adolescence . As the child gets older hypertension often becomes a problem.

Williams syndrome babies typically have a low birth weight and are often diagnosed as failing to thrive. Elevated levels of calcium in the blood (hypercalcemia) may develop in infancy, but this usually resolves without intervention in the first two years. Digestive system symptoms such as vomiting , constipation , and feeding difficulties may occur. The infant may not be able to settle into a normal sleep pattern and may seem to be extremely sensitive to noise, exhibiting agitation or distress when exposed to high-pitched sounds, such as electrical appliances, motors, and loud bangs.

By the time a child with Williams syndrome is ready to enter school, mild to severe learning difficulties may appear, including impulsiveness and poor concentration. Contributing to classroom difficulties are problems with vision and spatial relations. Concepts involving numbers—especially math and time—appear to be more difficult for children with WS. In the later elementary school years, a child with Williams syndrome may be more adept at producing language than at comprehending it. Poor muscle tone and physical development continue to contribute to difficulties with gross and fine motor skills . The child with WS may have difficulty forming relationships with peers, preferring the company of younger children or adults. Throughout childhood, the child with Williams syndrome may exhibit deficits in the ability to reason and in self-help skills.

Children with WS are overly social and outgoing, inappropriately friendly to adults and unwary of strangers. They are usually talkative, with intense enthusiasm bordering on obsession for topics that interest them.

Special care needs to be taken when children with Williams syndrome are given anesthesia.

When to call the doctor

If a parent notices that a child has the symptoms of WS the doctor should be consulted.


Williams syndrome is present from birth, although it often remains undiagnosed until a later stage of development. After a child has missed several developmental milestones, the pediatrician may refer the child to a specialist for diagnosis. Developmental delays that are typical include delay in sitting or walking. Also commonly observed are poor fine motor coordination and delayed development in language (although individuals with WS go on to develop excellent language skills). After reviewing the child's medical and family history, physical condition, and observing the child's behavior, a specialist in birth defects may identify Williams syndrome. In many cases, a heart murmur or suspected heart disorder may lead a cardiologist to suspect Williams syndrome, since an estimated 70 to 75 percent of people with WS have mild to severe cardiovascular problems.

Until the early 2000s, the diagnosis of WS made based on the child having a certain number of the symptoms of the disease. As of 2004, it was possible to test a child's genes for the deletion that causes WS. A test technique known as fluorescent in situ hybridization (FISH) may be used to detect this deletion. This test is only done when it is considered very likely that a child has WS because many of the clinical features are present.


Williams syndrome cannot be cured, but the ensuing symptoms, developmental delays, learning problems, and behaviors can be treated. Many different experts work together to help develop a comprehensive treatment plan that is geared to the needs of a specific child. Children need to be monitored regularly by a doctor to ensure that problems, especially cardiac problems and hypertension, do not arise. If such problems do arise, they need to be treated promptly. Non-physical treatment often involves teaching children life skills that will eventually allow them to live on their own or with minimal care and to hold jobs. Specialists who can be helpful in treating Williams syndrome include the following:

  • cardiologist, to diagnose and prescribe treatment for heart or circulatory problems
  • endocrinologist, to prescribe treatment if elevated calcium levels are detected in infancy
  • pediatric radiologist, to conduct diagnostic renal and bladder ultrasound tests to diagnose and prescribe treatment for any abnormalities present
  • occupational therapist, to assess development delays and prescribe a plan for therapy to acquire skills necessary for daily living


In most cases, the child with WS will require multidisciplinary care throughout adult life, with continued medical assessment to diagnose and treat medical complications early. The ability to live independently and to work are usually not limited by the physical problems, which are treated successfully in the majority of cases. Rather, psychological characteristics and the inability to behave appropriately in social settings are more likely to prevent the individual from living and functioning completely on his or her own. However, each year more individuals with William syndrome are able to live independently in supervised apartment settings.


There was as of 2004 no known way to prevent Williams syndrome.

Parental concerns

Children with Williams syndrome usually grow up physically healthy as long as they receive treatment for any problems, especially cardiac problems, that arise. The amount of independence that a child with Williams syndrome will eventually be able to achieve usually depends on the particular symptoms of that child.


Fluorescence in situ hybridization (FISH) —A technique for diagnosing genetic disorders before birth by analyzing cells obtained by amniocentesis with DNA probes.

Hypercalcemia —A condition marked by abnormally high levels of calcium in the blood.

Supravalvular aortic stenosis (SVAS) —A narrowing of the aorta.



Bellugi, Ursula, and Marie St. George, eds. Journey from Cognition to Brain to Gene: Perspectives from Williams Syndrome. Cambridge, MA: MIT Press, 2001.

Schiber, Barbara. Fulfilling Dreams: A Handbook for Parents of Children with Williams Syndrome. Clawson, MI: Williams Syndrome Association, 2000.

Semel, Eleanor, and Sue R. Rosner. Understanding Williams Syndrome: Behavioral Patterns and Interventions. Mahwah, NJ: L. Erlbaum, 2003.


Jason, Helen, et al. "Word Reading and Reading-Related Skills in Adolescents With Williams Syndrome." Journal of Child Psychology and Psychiatry and Allied Disciplines –44 (May 2003): 57687.

Reis, Sally M., et al. "—Minds Music: Using a Talent Development Approach for Young Adults with Williams Syndrome." Exceptional Children –69 (Spring 2003): 293314.


Williams Syndrome Association. PO Box 297 Clawson, MI 480170297. Web site: http://www.williams-syndrome.org.

Williams Syndrome Foundation. Williams Syndrome Foundation, University of California, Irvine, CA 926972300. Web site: http://www.wsf.org

Tish Davidson, A.M.

Also read article about Williams Syndrome from Wikipedia

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