Important It is possible that the main title of the report Williams Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Early Hypercalcemia Syndrome with Elfin Facies
Elfin Facies with Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis
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).
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: firstname.lastname@example.org Internet: http://www.williams-syndrome.org
The Arc 1825 K Street NW, Suite 1200 Washington, DC 20006 Tel: (202)534-3700 Fax: (202)534-3731 Tel: (800)433-5255 TDD: (817)277-0553 Email: email@example.com Internet: http://www.thearc.org
Williams Syndrome Foundation 161 High Street Tonbridge, TN9 1BX United Kingdom Tel: 01732365152 Fax: 01732360178 Email: firstname.lastname@example.org Internet: http://www.williams-syndrome.org.uk
Coalition for Heritable Disorders of Connective Tissue (CHDCT) 4301 Connecticut Avenue, NW Suite 404 Washington, DC 20008 Tel: (202)362-9599 Fax: (202)966-8553 Tel: (800)778-7171 Email: email@example.com Internet: http://www.chdct2.org/
Canadian Association for Williams Syndrome P.O. Box 26206 Richmond British Columbia, V6Y 3V3 Canada Tel: 6042140132 Email: firstname.lastname@example.org Internet: 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 Fax: (866)760-5947 Tel: (800)370-2943 TDD: (888)320-6942 Email: NICHDInformationResourceCenter@mail.nih.gov Internet: 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: email@example.com Internet: http://www.new-horizons.org
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 TDD: (888)205-3223 Internet: http://rarediseases.info.nih.gov/GARD/
Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: firstname.lastname@example.org Internet: http://www.madisonsfoundation.org
Williams Syndrome Family of Hope PO Box 2144 Tifton, GA 31793 Tel: (229)256-9545 Email: email@example.com Internet: http://www.wsfamilyofhope.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
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.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 5/1/2008 Copyright 1986, 1987, 1988, 1989, 1992, 1993, 1995, 1996, 1998, 1999, 2000, 2002, 2003, 2006 National Organization for Rare Disorders, Inc.
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