Health Information

 

 

Fragile X Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Fragile X 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.

Synonyms

  • fragile site, folic acid type, rare, Fra(X)(Q27.3)
  • fragile X mental retardation protein, FMRP
  • fragile X mental retardation syndrome
  • marker X syndrome
  • Martin-Bell syndrome
  • mental retardation, X-linked, associated with Mar Xq28
  • X-linked mental retardation and macroorchidism

Disorder Subdivisions

  • None

General Discussion

Fragile X syndrome is characterized by moderate intellectual disability in affected males and mild intellectual disability in affected females. Distinctive physical features are sometimes present in affected males including a large head, long face, prominent forehead and chin, protruding ears, loose joints and large testes, but these features develop over time and may not be obvious until puberty. Motor and language delays are usually present but also become more apparent over time. Behavioral abnormalities including autistic behaviors are common.



Fragile X syndrome is caused by an abnormality (mutation) in the FMR1 gene. Affected individuals have an increased number of copies of a portion of the gene called CGG repeats. The greater the number of copies of CGG, the more likely there will be increased severity of the disorder. Fragile X syndrome occurs more often in males and results in more severe disease in males.



Mutations in the FMR1 gene are associated with two other conditions in addition to the fragile X syndrome (FXTAS and POI) and these conditions have been termed FMR1-Related Disorders. (See the Related Disorders section of this report for brief summaries of the other disorders.)

Resources

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: info@thearc.org

Internet: http://www.thearc.org



FRAXA Research Foundation

10 Prince Place

Newburyport, MA 01950

USA

Tel: (978)462-1866

Fax: (978)463-9985

Email: info@fraxa.org

Internet: http://www.fraxa.org



National Fragile X Foundation

1615 Bonanza St

Suite 202

Walnut Creek, CA 94596

USA

Tel: (925)938-9300

Fax: (925)938-9315

Tel: (800)688-8765

Email: natlfx@FragileX.org

Internet: http://www.fragilex.org



New York State Office for People with Developmental Disabilities

44 Holland Avenue

Albany, NY 12229

Tel: (866)946-9733

TDD: (866)933-4889

Email: Commissioners.Correspondence.Unit@omr.state.ny.us

Internet: http://www.omr.state.ny.us/ws/ws_ibr_resources.jsp



NIH/National Institute on Aging

31 Center Drive, MSC 2292

Building 31

Room 5C27

Bethesda, MD 20892

Tel: (301)496-1752

Fax: (301)496-1072

Tel: (800)222-2225

TDD: (800)222-4225

Email: bapquery@nia.nih.gov

Internet: http://www.nih.gov/nia



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: horizons@new-horizons.org

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: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



Let Them Hear Foundation

1900 University Avenue, Suite 101

East Palo Alto, CA 94303

Tel: (650)462-3174

Fax: (650)462-3144

Email: info@letthemhear.org

Internet: http://www.letthemhear.org



Fragile X Society

Road End House

6 Stortford Road

Great Dunmow

Essex, CM6 1DA

United Kingdom

Tel: 004401371875100

Email: info@fragilex.org.uk

Internet: http://www.fragilex.org.uk



Medical Home Portal

Dept. of Pediatrics

University of Utah

P.O. Box 581289

Salt Lake City, UT 84158

Tel: (801)587-9978

Fax: (801)581-3899

Email: mindy.tueller@utah.edu

Internet: http://www.medicalhomeportal.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 MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

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 orphan@rarediseases.org

Last Updated:  8/25/2010

Copyright  1988, 1989, 1990, 1991, 1994, 1995, 1997, 1998, 1999, 2006, 2010 National Organization for Rare Disorders, Inc.

This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. How this information was developed to help you make better health decisions.

Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.