Fragile X syndrome

Genetic and Rare Diseases Information Center (GARD)

Marker X syndrome
Martin-Bell syndrome
FRAXA syndrome
Fra(X) syndrome
FXS
X-linked mental retardation and macroorchidism

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Fragile X syndrome
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Fragile X syndrome is a genetic condition involving changes in part of the X chromosome.^[1] This condition causes a range of developmental problems including learning disabilities and cognitive impairment.^[2] It is the most common form of inherited mental retardation in males and a significant cause of mental retardation in females.^[1] Fragile X syndrome is caused by a change in the FMR1 gene.^[1]^[2] Fragile X syndrome is inherited in an X-linked dominant pattern.^[2]

References

Haldeman-Englert C. Fragile X syndrome. MedlinePlus. 2007 Available at: http://www.nlm.nih.gov/medlineplus/ency/article/001668.htm. Accessed April 20, 2009.
Fragile X syndrome. Genetics Home Reference (GHR). 2007 Available at: http://www.ghr.nlm.nih.gov/condition=fragilexsyndrome. Accessed April 20, 2009.

Questions & Answers (Found 1 Question)

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Is genetic testing available for Asperger syndrome? Is fragile X syndrome associated with Asperger syndrome? (Click here for answer)

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For more information about Fragile X syndrome click on the boxes below:

More Detailed Information	NLM Gateway	Services	Scientific Conferences	Support Groups	Clinical Trials & Research

General \| Management Guidelines
More Detailed Information (Found 12 resources) Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates General 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 Genetics Home Reference (GHR) contains a condition summary on Fragile X syndrome. Click on the link to go to GHR and review this summary. 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. The Merck Manuals Online Medical Library provides information on this condition. Click on the link to view the information. 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. The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic. 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. The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Fragile X syndrome. Click on the link to go to OMIM and review these resources. Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic. PubMed is a searchable database of medical literature and lists journal articles that discuss Fragile X syndrome. Click on the link to view a sample search on this topic. Management Guidelines American Academy of Pediatrics Guidelines: Health Supervision for Children with Fragile X Pediatrics 1996; 98: 297-300 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.

General | Management Guidelines

More Detailed Information (Found 12 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates

General
- 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
- Genetics Home Reference (GHR) contains a condition summary on Fragile X syndrome. Click on the link to go to GHR and review this summary.
- 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.
- The Merck Manuals Online Medical Library provides information on this condition. Click on the link to view the information.
- 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.
- The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
- 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.
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Fragile X syndrome. Click on the link to go to OMIM and review these resources.
- Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Fragile X syndrome. Click on the link to view a sample search on this topic.
Management Guidelines
- American Academy of Pediatrics Guidelines: Health Supervision for Children with Fragile X
  Pediatrics 1996; 98: 297-300
- 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.


NLM Gateway (Found 1 resource) A tool to search across multiple resources offered on the National Library of Medicine's Website NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.

NLM Gateway (Found 1 resource)
A tool to search across multiple resources offered on the National Library of Medicine's Website

- NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.


Services (Found 2 resources) Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories Testing The American College of Medical Genetics (ACMG) Laboratory Quality Assurance (Lab QA) Committee has the mission of maintaining high technical standards for the performance and interpretation of genetic tests. In part, this is accomplished by the publication of the document "ACMG Standards and Guidelines for Clinical Genetics Laboratories." These standards and guidelines are designed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. To view the Technical Standards and Guidelines for Fragile X syndrome, visit the link above. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.

Services (Found 2 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories

Testing
- The American College of Medical Genetics (ACMG) Laboratory Quality Assurance (Lab QA) Committee has the mission of maintaining high technical standards for the performance and interpretation of genetic tests. In part, this is accomplished by the publication of the document "ACMG Standards and Guidelines for Clinical Genetics Laboratories." These standards and guidelines are designed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. To view the Technical Standards and Guidelines for Fragile X syndrome, visit the link above.
- GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.

Upcoming Conferences \| Past Conferences
Scientific Conferences (Found 3 resources) Completed and upcoming scientific conferences and programs that have been sponsored by the National Institutes of Health Upcoming Conferences Outcome Measures for Clinical Trials in Children with Fragile X Syndrome – Part II, February 2010 Description: The goals of the first meeting were to (1) describe outcome measures for safety and efficacy when treating children with FXS, (2) assess validation of those measures for clinical studies, and (3) describe approaches for preclinical toxicology studies to define efficacy and safety. Past Conferences 2009 Triplet Repeat Disorders Gordon Conference, May 31, 2009 - June 5, 2009 Description: The top two priorities of this conference were training and the communication of cutting-edge science in the area of CAG triplet repeat disorders. The focus of this conference was on areas of rapid advancement and latest developments. Speakers were selected for their expertise, recent contributions to the field, and ability to provide lively presentations. The structured discussion leaders were instructed to focus on issues that cut across each presentation in a session. Workshop on Reproduction and the Fragile X Premutation, April 13, 2005 - April 15, 2005 Location: William F. Bolger Center, Potomac, MD Description: Workshop goals were to examine the basic science and clinical and epidemiological evidence regarding the fragile X premutation and its effects on reproduction.

Upcoming Conferences | Past Conferences

Scientific Conferences (Found 3 resources)
Completed and upcoming scientific conferences and programs that have been sponsored by the National Institutes of Health

Upcoming Conferences
- Outcome Measures for Clinical Trials in Children with Fragile X Syndrome – Part II, February 2010
  Description: The goals of the first meeting were to (1) describe outcome measures for safety and efficacy when treating children with FXS, (2) assess validation of those measures for clinical studies, and (3) describe approaches for preclinical toxicology studies to define efficacy and safety.
Past Conferences
- 2009 Triplet Repeat Disorders Gordon Conference, May 31, 2009 - June 5, 2009
  Description: The top two priorities of this conference were training and the communication of cutting-edge science in the area of CAG triplet repeat disorders. The focus of this conference was on areas of rapid advancement and latest developments. Speakers were selected for their expertise, recent contributions to the field, and ability to provide lively presentations. The structured discussion leaders were instructed to focus on issues that cut across each presentation in a session.
- Workshop on Reproduction and the Fragile X Premutation, April 13, 2005 - April 15, 2005
  Location: William F. Bolger Center, Potomac, MD
  Description: Workshop goals were to examine the basic science and clinical and epidemiological evidence regarding the fragile X premutation and its effects on reproduction.

Umbrella Organizations \| Disease-Specific Organizations \| Live Chat/E-mail Lists \| Parent Matching Organizations
Support Groups (Found 7 resources) Groups providing a wide range of services, supportive resources, and information Umbrella Organizations Genetic Alliance 4301 Connecticut Avenue NW Suite 404 Washington, DC 20008-2369 Telephone: 202-966-5557 Fax: 202-966-8553 E-mail: info@geneticalliance.org Web site: http://www.geneticalliance.org National Organization for Rare Disorders (NORD) 55 Kenosia Avenue PO Box 1968 Danbury, CT 06813-1968 Toll-free: 1-800-999-6673 (voicemail only) Telephone: 203-744-0100 TTY: 203-797-9590 Fax: 203-798-2291 E-mail: orphan@rarediseases.org Web site: http://www.rarediseases.org/ Disease-Specific Organizations The Fragile X Society Road End House 6 Stortford Road Great Dunmow, Essex, CM6 1DA Phone: 00 44 (0)1371 875100 Fax: 00 44 (0)1371 859915 E-mail: info@fragilex.org.uk Web site: http://www.fragilex.org.uk National Fragile X Foundation PO Box 190488 San Francisco, CA 94119 Toll-free: 800-688-8765 Phone: 925-938-9300 Fax: 925-938-9315 Web site: http://www.FragileX.org Live Chat/E-mail Lists 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. RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more. Parent Matching Organizations Madisons Foundation P.O. Box 241956 Los Angeles, CA 90024 Telephone: 310-264-0826 Fax: 310-264-4766 E-mail: getinfo@madisonsfoundation.org Web site: http://www.madisonsfoundation.org/

Umbrella Organizations | Disease-Specific Organizations | Live Chat/E-mail Lists | Parent Matching Organizations

Support Groups (Found 7 resources)
Groups providing a wide range of services, supportive resources, and information

Umbrella Organizations
- Genetic Alliance
  4301 Connecticut Avenue NW
  Suite 404
  Washington, DC 20008-2369
  Telephone: 202-966-5557
  Fax: 202-966-8553
  E-mail: info@geneticalliance.org
  Web site: http://www.geneticalliance.org
- National Organization for Rare Disorders (NORD)
  55 Kenosia Avenue
  PO Box 1968
  Danbury, CT 06813-1968
  Toll-free: 1-800-999-6673 (voicemail only)
  Telephone: 203-744-0100
  TTY: 203-797-9590
  Fax: 203-798-2291
  E-mail: orphan@rarediseases.org
  Web site: http://www.rarediseases.org/
Disease-Specific Organizations
- The Fragile X Society
  Road End House
  6 Stortford Road
  Great Dunmow, Essex, CM6 1DA
  Phone: 00 44 (0)1371 875100
  Fax: 00 44 (0)1371 859915
  E-mail: info@fragilex.org.uk
  Web site: http://www.fragilex.org.uk
- National Fragile X Foundation
  PO Box 190488
  San Francisco, CA 94119
  Toll-free: 800-688-8765
  Phone: 925-938-9300
  Fax: 925-938-9315
  Web site: http://www.FragileX.org
Live Chat/E-mail Lists
- 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.
- RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
Parent Matching Organizations
- Madisons Foundation
  P.O. Box 241956
  Los Angeles, CA 90024
  Telephone: 310-264-0826
  Fax: 310-264-4766
  E-mail: getinfo@madisonsfoundation.org
  Web site: http://www.madisonsfoundation.org/


Clinical Trials & Research (Found 3 resources) Resources where you may find research studies and clinical trials ClinicalTrials.gov lists trials that are studying or have studied Fragile X syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies. Clinical Tests Begin on Medication to Correct Fragile X Defect: a clinical trial of a potential medication designed to correct a central neurochemical defect underlying Fragile X syndrome. There has to date been no medication that could alter the disorder's neurologic abnormalities. The study will evaluate safety, tolerability, and optimal dosage in healthy volunteers. Grant support for this study has been provided by the National Institute of Mental Health, the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and the National Institute of Neurological Disorders and Stroke (NINDS). Private foundations providing funding include the advocacy groups Autism Speaks and FRAXA Research Foundation. Learn more on the ClinicalTrials.gov Web site. NIH Issues Research Plan on Fragile X Syndrome and Associated Disorders. NIH News. July 20, 2009.

Clinical Trials & Research (Found 3 resources)
Resources where you may find research studies and clinical trials

- ClinicalTrials.gov lists trials that are studying or have studied Fragile X syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
- Clinical Tests Begin on Medication to Correct Fragile X Defect: a clinical trial of a potential medication designed to correct a central neurochemical defect underlying Fragile X syndrome. There has to date been no medication that could alter the disorder's neurologic abnormalities. The study will evaluate safety, tolerability, and optimal dosage in healthy volunteers. Grant support for this study has been provided by the National Institute of Mental Health, the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and the National Institute of Neurological Disorders and Stroke (NINDS). Private foundations providing funding include the advocacy groups Autism Speaks and FRAXA Research Foundation. Learn more on the ClinicalTrials.gov Web site.
- NIH Issues Research Plan on Fragile X Syndrome and Associated Disorders. NIH News. July 20, 2009.

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