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)
  • Marker X Syndrome
  • Martin-Bell Syndrome
  • X-linked Mental Retardation and Macroorchidism
  • Fragile X Mental Retardation Protein, FMRP
  • Fragile X Mental Retardation Syndrome
  • Mental Retardation, X-Linked, Associated With Mar Xq28

Disorder Subdivisions

  • None

General Discussion

Fragile X syndrome is characterized by moderate mental retardation in affected males and mild mental retardation 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 the 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 POF) 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

Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org/

FRAXA Research Foundation
45 Pleasant Street
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
PO Box 37
Walnut Creek, CA 94597
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 Institute for Basic Research in Developmental Disabilities
1050 Forest Hill Road
Staten Island, NY 10314
Tel: (718)494-0600
Fax: (718)698-3803
TDD: (718)494-5117
Email: vietcoat@ix.netcom.com

NIH/National Institute on Aging
PO Box 8057
Gaithersburg, MD 20892-8057
Tel: (301)496-1752
Tel: (800)222-2225
Internet: http://www.nih.gov/nia

Simon, Valerie, M.D.
Kennedy-Krieger Institute
Behavioral Genetics Unit
Room 103
707 North Broadway Avenue
Baltimore, MD 21205
Tel: (301)550-9321

NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
MSC2425
Bethesda, MD 20892
Tel: (301)496-5133
Fax: (301)496-7101
Internet: http://www.nichd.nih.gov/

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

New Horizons Un-Limited, Inc.
811 East Wisconsin Ave
Suite 937
Milwaukee, WI 53202
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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

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)462-3143
Fax: (650)462-3144
Tel: (877)735-2929
Email: info@letthemhear.org
Internet: http://www.letthemhear.org

Fragile X Society
Road End House
6 Stortford Road
Great Dunmow, Essex, CM6 1DA
UK
Tel: 00 44 (0) 1371 875100
Fax: 00 44 (0) 1371 859915
Email: info@fragilex.org.uk
Internet: http://www.fragilex.org.uk

For a Complete Report

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

related physicians

related services

Bon Secours International| Sisters of Bon Secours USA| Bon Secours Health System

This information does not replace the advice of a doctor. Healthwise 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. Privacy Policy. How this information was developed to help you make better health decisions.