Williams syndrome
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Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate mental retardation or learning disabilities, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.[1] Williams syndrome is caused by missing genes from a specific region of chromosome 7.[1][2] The deleted region includes more than 25 genes and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder.[1] The genetic mutation in Williams syndrome appears to be random in most cases.[3]
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- More Detailed Information (Found: 10 Resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates
- General
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eMedicine provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free
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Genetics Home Reference (GHR) contains a condition summary on Williams syndrome. Click on the link to go to GHR and review this summary.
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MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
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The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information. Click on the link to view information on this topic.
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The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
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The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Williams syndrome. Click on the link to go to OMIM and review these resources.
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PubMed is a searchable database of medical literature and lists journal articles that discuss Williams syndrome. Click on the link to view a sample search on this topic.
- Management Guidelines
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Management guidelines from the American Academy of Pediatrics: Health Care Supervision for Children With Williams Syndrome
Pediatrics, Vol. 107 No. 5 May 2001, pp. 1192-1204
A statement of reaffirmation for this policy was published on September 1, 2005
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GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
- Support Groups (Found: 7 Resources)
Groups providing a wide range of services, supportive resources, and information
- Umbrella Organizations
- Disease-Specific Organizations
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Canadian Association for Williams Syndrome
PO Box 2115
Vancouver, BC V6B 3T5
Phone: 604-853-0231
Fax: 604-853-0232
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Williams Syndrome Foundation
University of California, Irvine
Irvine, CA 92697-2310
Phone: 949-UCI-7259
Fax: 949-642-7215
Email: hmlenhof@uci.edu
Web: www.wsf.org
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Williams Syndrome Association
PO Box 297
Clawson, MI 48017-0297
Toll-free: 800-806-1871
Phone: 248-244-2229
Fax: 248-244-2230
Email: info@williams-syndrome.org
Web: www.williams-syndrome.org
- Live Chat
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The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
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RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
- Clinical Trials & Research (Found: 1 Resource)
Resources where you may find research studies and clinical trials
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ClinicalTrials.gov lists trials that are studying or have studied Williams syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
- Services (Found: 1 Resource)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories
- Genetic Services
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We recommend that you discuss this information and your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:
* GeneClinics - A searchable directory of US and international genetics and prenatal diagnosis clinics. To locate genetics clinics in the United States, go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
* ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
- NLM Gateway
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The NLM Gateway allows users to search across multiple resources offered on the National Library of Medicine's Web site. Some of these resources may be duplicated in the list of links above. Click on the link to go to the NLM Gateway, and search by condition name.