Medical Resources

There is no cure for Williams syndrome. Treatment is symptomatic and supportive. Individuals with Williams syndrome need regular monitoring for potential medical problems by a physician familiar with the disorder.  Specialized services and therapies are also recommended to help individuals with WS maximize their potential.

Research Update: Early research suggested that an inversion of the genes in the WS critical area could result in a pattern of problems which resembles Williams syndrome (so-called "atypical Williams syndrome"). However, recent research of individuals with an inversion who were at one time diagnosed as having Williams syndrome (including the individuals referred to in the original article by Osborne et al.), shows that although several of the people had mental retardation and/or ADHD, none of them shared any traits that are specific to WS.  It is also now known that 28-35% of transmitting parents have inversions as do 6-7% of nontransmitting parents (an estimate of the inversion rate in the general population). These parents definitely do not have a pattern of problems that resembles Williams syndrome.

With this new research in mind, it is important to stress that WS is a genetic diagnosis.  In greater than 98% of cases, an individual who does not have the elastin deletion does not have Williams syndrome.

The resorces below are intended to help physicians treating children with Williams syndrome get oriented to the special conditions, developmental milestones and medical needs of these individuals.

Medical information regarding Williams syndrome

  • Diagnosing Williams syndrome
    Most cases of Williams syndrome are diagnosed easily with the FISH test. You can find details here. 
     
  • Growth charts for Williams syndrome
    The most recent growth charts, which you can print for reference. 
     
  • Health Care Supervision for Children With Williams Syndrome
    The formal Policy Statement by the American Academy of Pediatrics. Medical monitoring guidelines for individuals with Williams syndrome. 
     
  • Anesthesia concerns
    Guidelines for administering anesthesia to individuals with Williams syndrome. 
     
  • Selected aspects of Williams syndrome during adulthood
    A compilation of unique issues concerning adults with Williams syndrome, prepared by BR Pober, MD, Department of Genetics Yale School of Medicine. 
     
  • Medline update
    PubMed is provided by the National Center for Biotechnology Information (NCBI) at the National Library of Medicine (NLM) - located at the National Institutes of Health (NIH). You will find the most recent monthly Medline updates on Williams syndrome from the National Library of Medicine here. 
    [Last 1 year of updates shown] 
     
  • GeneTests-GeneClinics information on Williams syndrome
    Funded by the NIH, HRSA, and DOE, GeneTests-GeneClinics is a medical genetics information resource developed for physicians, healthcare providers, and researchers. You will find information specific to Williams syndrome here.
     
  • Williams syndrome clinics
    There are several clinics across the nation that specialize in the treatment of individuals with Williams syndrome. You can find the most current list of clinics here. 
     
  • Current research
    A listing of current research projects regarding Williams syndrome. 
     

General information regarding Williams syndrome

  • What is Williams syndrome
    This is the WS Facts brochure. It provides an introduction to many of the aspects of Williams syndrome.

    This brochure is also available in Spanish here.

  • Frequently asked questions
    Find answers to the most commonly asked questions about Williams syndrome here.