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"Resources" on this report.
Copyright 1988, 1989, 1990, 1991, 1994, 1995, 1997, 1998, 1999, 2006
NORD is grateful to Robert A. Saul, MD, Senior Clinical Geneticist, Greenwood Genetic Center, for assistance in the preparation of this report.
Synonyms of Fragile X Syndrome
- 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
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.)
Organizations related to Fragile X Syndrome
- Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
- FRAXA Research Foundation
45 Pleasant Street
Newburyport MA 01950
Phone #: 978-462-1866
800 #: --
e-mail: info@fraxa.org
Home page: http://www.fraxa.org
- Fragile X Society
Road End House
6 Stortford Road
Great Dunmow, Essex None CM6 1DA
Phone #: 00 -44 -(0) 1371 875100
800 #: N/A
e-mail: info@fragilex.org.uk
Home page: http://www.fragilex.org.uk
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto CA 94303
Phone #: 650-462-3143
800 #: 877-735-2929
e-mail: info@letthemhear.org
Home page: http://www.letthemhear.org
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
MSC2425
Bethesda MD 20892
Phone #: 301-496-5133
800 #: --
e-mail: N/A
Home page: http://www.nichd.nih.gov/
- NIH/National Institute on Aging
PO Box 8057
Gaithersburg MD 20892-8057
Phone #: 301-496-1752
800 #: 800-222-2225
e-mail: N/A
Home page: http://www.nih.gov/nia
- National Fragile X Foundation
PO Box 37
Walnut Creek CA 94597
Phone #: 925-938-9300
800 #: 800-688-8765
e-mail: NATLFX@FragileX.org
Home page: http://www.FragileX.org
- New Horizons Un-Limited, Inc.
811 East Wisconsin Ave
Suite 937
Milwaukee WI 53202
Phone #: 414-299-0124
800 #: N/A
e-mail: horizons@new-horizons.org
Home page: http://www.new-horizons.org
- New York State Institute for Basic Research in Developmental Disabilities
1050 Forest Hill Road
Staten Island NY 10314
Phone #: 718-494-0600
800 #: --
e-mail: vietcoat@ix.netcom.com
Home page: N/A
- Simon, Valerie, M.D.
Kennedy-Krieger Institute
Behavioral Genetics Unit
Room 103
707 North Broadway Avenue
Baltimore MD 21205
Phone #: 301-550-9321
800 #: --
e-mail: N/A
Home page: N/A
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