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
The 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: 9784621866 Fax: 9784639985 Email: info@fraxa.org Internet: http://www.fraxa.org
National Fragile X Foundation PO Box 37 Walnut Creek, CA 94597 USA Tel: 9259389300 Fax: 9259389315 Tel: 8006888765 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.nih.gov/hichd/
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network 150 Custer Court Green Bay, WI 54301-1243 USA Tel: 9203365333 Fax: 9203390995 Tel: 8773365333 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: 4142990124 Fax: 4143471977 Email: horizons@new-horizons.org Internet: http://www.new-horizons.org
Let Them Hear Foundation 1900 University Ave #101 East Palo Alto, CA 94303 Tel: (650)462-3143 Fax: (650)462-3143 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: 01371 875100 Fax: 01371 859915 Email: info@fragilex.org.uk Internet: http://www.fragilex.org.uk
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc. (r) (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
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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
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