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Williams Syndrome

Williams syndrome

Definition

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

Description

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.

Demographics

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 numbersespecially math and timeappear 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.

Diagnosis

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.

Treatment

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

Prognosis

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.

Prevention

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.

KEY TERMS

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.

Resources

BOOKS

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.

PERIODICALS

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.

ORGANIZATIONS

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

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

Tish Davidson, A.M.

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"Williams Syndrome." Gale Encyclopedia of Children's Health: Infancy through Adolescence. . Encyclopedia.com. 20 Aug. 2017 <http://www.encyclopedia.com>.

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"Williams Syndrome." Gale Encyclopedia of Children's Health: Infancy through Adolescence. . Retrieved August 20, 2017 from Encyclopedia.com: http://www.encyclopedia.com/medicine/encyclopedias-almanacs-transcripts-and-maps/williams-syndrome

Williams Syndrome

Williams syndrome

Definition

Williams syndrome, first described in 1961, is a rare genetic condition with a wide array of clinical features.

Description

Typical facial features seen in children with Williams syndrome include a wide mouth with full lips, a small chin, and a short, slightly upturned nose. Children with blue or green eyes often times show a starburst pattern in the colored part (iris) of the eyes. An unusual narrowing of the aorta called supravalvular aortic stenosis is often present, and hernias are often seen in the inguinal area of the abdomen. The blood vessels and abdominal wall often show weakness or altered development. Muscle tone is typically low, and children are often on the low end of birth weight, with relatively poor weight gain and growth in their early years.

Most children with Williams syndrome have a remarkable contrast between verbal abilities and spatial abilities. While overall intellectual performance on standardized IQ tests will be in the general range found in Down syndrome, children with Williams syndrome show a complex pattern of strengths and deficiencies that would not be evident by counting IQ points. Verbal abilities, for example, are exceptionally strong, and people with Williams syndrome tend to show very strong social skills relative to what one might anticipate based on IQ scores. Long-term memory is also generally excellent. Musical interest and ability are often strong. In contrast, fine motor skills often lag behind their IQ-matched peers, and, the sense of spatial relationships is very poor. If a therapist, for example, were to ask a child with Williams syndrome for a picture of a boy on a bike, the child might not be able to identify many of the parts of the picture. The parts will not likely be spaced in a way that makes much sense. However, if the therapist asks for a description of what it is like to ride a bike, the child will likely describe the sensation with a detailed and imaginative story.

For reasons that are not well understood, children may have a problem with calcium levels that are too high. Irritability and colic are common in early development, especially in children with high calcium levels. Delays are typically seen in reaching developmental milestones, and children with Williams syndrome generally exhibit learning disabilities and may be easily distractible with some form of attention deficit disorder. Cognitive, verbal and motor deficits are universal, and about three quarters of children will be determined to have mental retardation in the course of their care.Young children with Williams syndrome often have extremely sensitive hearing, although this tends to become less significant as children get older.

Demographics

Williams syndrome is estimated to occur in one of every 20,000 births. In most families, only one child will be affected and there is no significant family history of Williams syndrome in other relatives.

Causes and symptoms

Williams syndrome is most often caused by a chromosome deletion involving loss of a gene called elastin on chromosome number 7, and may involve the loss of other neighboring genes as well.

Diagnosis

Because of the variability in the way that Williams syndrome affects different people, it often goes undiagnosed for many years. Although there is a chromosome deletion in over 98% of children born with Williams syndrome, the deletions are so small that they are usually not detectable under the microscope using standard methods. Diagnosis requires the use of a special test called fluorescence in situ hybridization (FISH) in which a DNA probe for the elastin gene is labeled with a brightly colored fluorescent dye.

Treatment team

Medical care for children with Williams syndrome should be provided by a physician with specific knowledge or experience with Williams syndrome, and growth charts specific to children with Williams syndrome are available. The services of a medical geneticist should be available to the treating physician.

Treatment

Treatment is supportive and varies according to the symptoms displayed. Special attention is given to monitoring for heart and blood vessel disease, along with blood calcium levels. Multivitamin supplementation should generally be avoided unless directed by a physician because of the potential for problems caused by vitamin D.

Recovery and rehabilitation

Teens and adults with Williams syndrome face a variety of challenges that come with aging. Involvement of the family in support groups with other families that have direct experience with Williams syndrome can be helpful in anticipating and avoiding the common pitfalls. Most adults with Williams syndrome continue to live at home with parents or in special group home situations, with rare individuals living and functioning independently.

Prognosis

There is no cure for Williams syndrome as it is a genetically determined disease. Research is underway to determine the roles of approximately 20 genes in the area of chromosome 7 that are critical to the development of Williams syndrome.

Special concerns

Individuals who have Williams syndrome have a 50% chance of passing it on to their offspring if they have children because one of their two copies of chromosome 7 is missing some vital information, and each sperm or egg will receive one copy of chromosome 7 at random. This inheritance pattern is called autosomal pseudodominant because it so closely resembles the pattern of transmission seen for autosomal dominant single gene traits.

Resources

BOOKS

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

PERIODICALS

Committee on Genetics American Academy of Pediatrics. "Health care supervision for children with Williams syndrome." Pediatrics 107 (2001): 11921204.

OTHER

"NINDS Williams Syndrome Information Page." National Institute of Neurological Disorders and Stroke. (February 11, 2004). <http://www.ninds.nih.gov/health_and_medical/disorders/williams.htm#Is_there_any_treatment>.

ORGANIZATIONS

Williams Syndrome Association. P.O. Box 297, Clawson, MI 48017-0297. (248) 244-2229 or (800) 806-1871; Fax: (248) 244-2230. info@williams-syndrome.org. <http://www.williams-syndrome.org>.

National Organization for Rare Disorders (NORD), P.O. Box 1968 (55 Kenosia Avenue), Danbury, CT 06813-1968. (203) 744-0100 or (800) 999-NORD (6673); Fax: (203) 798-2291. orphan@rarediseases.org, <http://www.rarediseases.org>.

Robert G. Best, PhD

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Williams syndrome

Williams syndrome (wil-yămz) n. a hereditary condition marked by a characteristic ‘elfin’ facial appearance, hypercalcaemia, short stature, mental retardation, and aortic stenosis. Most affected children are highly sociable and have unusual conversational ability, using a rich and complex vocabulary. [ J. C. P. Williams (20th century), British cardiologist]

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