Williams Syndrome

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Williams Syndrome is not the name you expected.

Disorder Subdivisions

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General Discussion

Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age. Such characteristic facial features may include a round face, full cheeks, thick lips, a large mouth that is usually held open, and a broad nasal bridge with nostrils that flare forward (anteverted nares). Affected individuals may also have unusually short eyelid folds (palpebral fissures), flared eyebrows, a small lower jaw (mandible), and prominent ears. Dental abnormalities may also occur including abnormally small, underdeveloped teeth (hypodontia) with small, slender roots.

Williams syndrome may also be associated with heart (cardiac) defects, abnormally increased levels of calcium in the blood during infancy (infantile hypercalcemia), musculoskeletal defects, and/or other abnormalities. Cardiac defects may include obstruction of proper blood flow from the lower right chamber (ventricle) of the heart to the lungs (pulmonary stenosis) or abnormal narrowing above the valve in the heart between the left ventricle and the main artery of the body (supravalvular aortic stenosis). Musculoskeletal abnormalities associated with Williams syndrome may include depression of the breastbone (pectus excavatum), abnormal side-to-side or front-to-back curvature of the spine (scoliosis or kyphosis), or an awkward gait. In addition, most affected individuals have mild to moderate mental retardation; poor visual-motor integration skills; a friendly, outgoing, talkative manner of speech; a short attention span; and are easily distracted.

In most individuals with Williams syndrome, the disorder appears to occur spontaneously for unknown reasons (sporadically). However, familial cases have also been reported. Sporadic and familial cases are thought to result from deletion of genetic material from adjacent genes (contiguous genes) within a specific region of chromosome 7 (7q11.23).

Supporting Organizations

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

NIH/National Institute of Child Health and Human Development

31 Center Dr
Building 31, Room 2A32
Bethesda, MD 20892
Fax: (866)760-5947
Tel: (800)370-2943
Email: NICHDInformationResourceCenter@mail.nih.gov
Website: http://www.nichd.nih.gov/

New Horizons Un-Limited, Inc.

811 East Wisconsin Ave
P.O. Box 510034
Milwaukee, WI 53203
USA
Tel: (414)299-0124
Fax: (414)347-1977
Email: horizons@new-horizons.org
Website: http://www.new-horizons.org

The Arc

1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
Email: info@thearc.org
Website: http://www.thearc.org

Williams Syndrome Association

570 Kirts Boulevard
Suite 223
Troy, MI 48084-4156
Tel: (248)244-2229
Fax: (248)244-2230
Tel: (800)806-1871
Email: info@williams-syndrome.org
Website: http://www.williams-syndrome.org

Williams Syndrome Family of Hope

PO Box 2144
Tifton, GA 31793
Tel: (229)256-9545
Email: info@wsfamilyofhope.org
Website: http://www.wsfamilyofhope.org

Williams Syndrome Foundation

161 High Street
Tonbridge, TN9 1BX
United Kingdom
Tel: 1732365152
Fax: 1732360178
Email: enquiries@williams-syndrome.org.uk
Website: http://www.williams-syndrome.org.uk

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  5/1/2008
Copyright  2006 National Organization for Rare Disorders, Inc.