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

Synonyms

• Beuren Syndrome
• Early Hypercalcemia Syndrome with Elfin Facies
• Elfin Facies with Hypercalcemia
• Hypercalcemia-Supravalvar Aortic Stenosis
• WBS
• Williams-Beuren Syndrome
• WMS

Disorder Subdivisions

• None

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).

Resources

Williams Syndrome Association
570 Kirts Blvd
Suite 223
Troy
MI
48084
Tel: (248)244-2229
Fax: (248)244-2230
800: (800)806-1871
tsager@williams-syndrome.org
http://www.williams-syndrome.org

The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring
MD
20910
Tel: (301)565-3842
Fax: (301)565-3843
800: (800)433-5255
TDD: (817)277-0553
info@thearc.org
http://www.thearc.org/

Williams Syndrome Foundation
161 High Street
Tonbridge
TN9 1BX
United Kingdom
Tel: 01732 365152
Fax: 01732 360178
John.nelson-wsfoundation@btinternet.com
http://www.williams-syndrome.org.uk

Canadian Association for Williams Syndrome
P.O. Box 2115
Vancouver
British Columbia
V6B 3T5
Canada
Tel: 6048530231
Fax: 6048530232
sev@uniserve.com
http://www.caws-can.org

NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
MSC2425
Bethesda
MD
20892
Tel: (301)496-5133
Fax: (301)496-7101
http://www.nih.gov/hichd/

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/

New Horizons Un-Limited, Inc.
811 East Wisconsin Ave
Suite 937
Milwaukee
WI
53202
USA
Tel: (414)299-0124
Fax: (414)347-1977
horizons@new-horizons.org
http://www.new-horizons.org

National Foundation for Celiac Awareness
P.O. Box 544 or 224 South Maple Street
Ambler
PA
19002
Tel: (215)325-1306
Fax: (215)283-0859
info@celiaccentral.org
http://www.CeliacCentral.org