Also called: Also called: FRAXA
Fragile X syndrome is the most common form of inherited mental retardation. A problem with a specific gene causes the disease. Normally, the gene makes a protein you need for brain development. But the mutation causes a person to make little or none of the protein, which results in the symptoms of Fragile X.
People with only a small change in the gene might not show any signs of Fragile X. People with bigger changes can have severe symptoms. These might include
- Intelligence problems, ranging from learning disabilities to severe mental retardation
- Social and emotional problems, such as aggression in boys or shyness in girls
- Speech and language problems, especially in boys
Fragile X has no cure. You can treat some symptoms with educational, behavioral or physical therapy, and with medicines. Getting treatment early for Fragile X can help.
National Institute of Child Health and Human Development
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Fragile X Syndrome
(National Institute of Child Health and Human Development) - http://www.nichd.nih.gov/health/topics/fragile_x_syndrome.cfm
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Genetics Home Reference: Fragile X syndrome(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=fragilexsyndrome
- Fragile X Syndrome(Centers for Disease Control and Prevention) - http://www.cdc.gov/ncbddd/single_gene/fragilex.htm
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Learning about Fragile X Syndrome(National Human Genome Research Institute) - http://www.genome.gov/19518828
- Learn More about Fragile X Syndrome(07/22/2008, Centers for Disease Control and Prevention) - http://www.cdc.gov/Features/FragileX/
- Characteristics of Fragile X Syndrome(National Fragile X Foundation) - http://www.nfxf.org/html/characteristics.htm
- Intervention for Problems Associated with Fragile X Syndrome(National Fragile X Foundation) - http://www.nfxf.org/html/intervention.htm
- Autism and Fragile X Syndrome(National Fragile X Foundation) - http://www.nfxf.org/html/autism_and_fragile_x_syndrome.htm
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Families and Fragile X Syndrome(National Institute of Child Health and Human Development) - http://www.nichd.nih.gov/publications/pubs/fragileX/
- Fragile X and Company: Finding the Right Diagnosis(American Academy of Neurology) - http://www.neurology.org/cgi/content/full/65/2/E3
- Fragile X Associated Tremor/Ataxia Syndrome (FXTAS)(National Fragile X Foundation) - http://www.nfxf.org/html/fxtas.htm
- What Is Fragile X Syndrome?(Dolan DNA Learning Center) - Requires Flash Player - http://www.yourgenesyourhealth.org/fragx/whatisit.htm
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ClinicalTrials.gov: Fragile X Syndrome(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Fragile+X+Syndrome%22
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Genetics Home Reference: Fragile X syndrome(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=fragilexsyndrome
- How Is Fragile X Syndrome Inherited?(National Fragile X Foundation) - http://www.nfxf.org/html/inheritance.htm
- What Does It Mean to Be a Carrier (for a Fragile X Mutation)?(National Fragile X Foundation) - http://www.nfxf.org/html/carriers.htm
- What Is the Molecular Cause of Fragile X Syndrome?(National Fragile X Foundation) - http://www.nfxf.org/html/molecular.htm
References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Morphometric spatial patterns differentiating boys with fragile X syndrome, typically... - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18762595&tool=MedlinePlus
- Article: 10 years' experience in fragile X testing among mentally retarded... - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18712171&tool=MedlinePlus
- Article: Open-label treatment trial of lithium to target the underlying defect... - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18698192&tool=MedlinePlus
- Fragile X Syndrome -- see more articles - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=search&db=pubmed&term=fragile+X+syndrome[majr]+AND+humans[mh]+AND+english[la]+NOT+(letter[pt]+OR+editorial[pt])&doptcmdl=summary&cmd_current=Limits&pmfilter_EDatLimit=last+1+Year&tool=MedlinePlus
- Fragile X Research Foundation - http://www.fraxa.org/
- National Fragile X Foundation - http://www.nfxf.org/html/home.shtml
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National Institute of Child Health and Human Development - http://www.nichd.nih.gov/
- Education (of Children Affected by Fragile X Syndrome)(National Fragile X Foundation) - http://www.nfxf.org/html/education.htm
- Primary Ovarian Insufficiency (POI) and Fragile X(National Fragile X Foundation) - http://www.nfxf.org/html/poi.htm
- Developmental Disabilities - http://www.nlm.nih.gov/medlineplus/developmentaldisabilities.html
- Genetics/Birth Defects - http://www.nlm.nih.gov/medlineplus/geneticsbirthdefects.html
The primary NIH organization for research on Fragile X Syndrome is the National Institute of Child Health and Human Development - http://www.nichd.nih.gov/