Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Williams Syndrome


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

Disorder Subdivisions



    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).

    Organizations related to Williams Syndrome
    • Canadian Association for Williams Syndrome
      P.O. Box 2115
      British Columbia None V6B 3T5
      Phone #: 604-853-0231
      800 #: --
      e-mail: sev@uniserve.com
      Home page: http://www.caws-can.org
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • Madisons Foundation
      PO Box 241956
      Los Angeles CA 90024
      Phone #: 310-264-0826
      800 #: N/A
      e-mail: getinfo@madisonsfoundation.org
      Home page: http://www.madisonsfoundation.org
    • NIH/National Institute of Child Health and Human Development
      31 Center Dr
      Bethesda MD 20892
      Phone #: 301-496-5133
      800 #: --
      e-mail: N/A
      Home page: http://www.nichd.nih.gov/
    • National Foundation for Celiac Awareness
      P.O. Box 544 or 224 South Maple Street
      Ambler PA 19002
      Phone #: 215-325-1306
      800 #: N/A
      e-mail: info@celiaccentral.org
      Home page: http://www.CeliacCentral.org
    • New Horizons Un-Limited, Inc.
      811 East Wisconsin Ave
      Milwaukee WI 53202
      Phone #: 414-299-0124
      800 #: N/A
      e-mail: horizons@new-horizons.org
      Home page: http://www.new-horizons.org
    • The Arc (a national organization on mental retardation)
      1010 Wayne Ave
      Silver Spring MD 20910
      Phone #: 301-565-3842
      800 #: 800-433-5255
      e-mail: info@thearc.org
      Home page: http://www.thearc.org/
    • Williams Syndrome Association
      570 Kirts Blvd
      Troy MI 48085
      Phone #: 248-244-2229
      800 #: 800-806-1871
      e-mail: info@williams-syndrome.org
      Home page: http://www.williams-syndrome.org
    • Williams Syndrome Foundation
      161 High Street
      Tonbridge None TN9 1BX
      Phone #: 017-32 -365152
      800 #: --
      e-mail: John.nelson-wsfoundation@btinternet.com
      Home page: http://www.williams-syndrome.org.uk



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html