Fragile X syndrome
Other Names for this Disease
- Marker X syndrome
- Martin-Bell syndrome
- FRAXA syndrome
- Fra(X) syndrome
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X chromosome. This condition causes a range of developmental problems including learning disabilities and cognitive impairment. It is the most common form of inherited intellectual disability in males and a significant cause of intellectual disability in females. Other signs and symptoms may include symptoms of autism spectrum disorders, seizures, and characteristic physical features. Fragile X syndrome is caused by a change (mutation) in the FMR1 gene and is inherited in an X-linked dominant manner. There is no cure yet and treatment is based on the symptoms present in the person. Early physical and education therapy is recommended.Fragile X syndrome is a genetic condition involving changes in part of the
Last updated: 5/12/2016
- Fragile X syndrome. MedlinePlus. 2016; http://www.nlm.nih.gov/medlineplus/ency/article/001668.htm.
- Fragile X syndrome. Genetics Home Reference. April 2012; http://www.ghr.nlm.nih.gov/condition/fragile-x-syndrome.
- Saul RA & Tarleton JC. FMR1-Related Disorders. GeneReviews. April 26, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1384/.
- The Centers for Disease Control and Prevention (CDC) provides information on fragile X associated disorders and research. Click on the link above to visit the CDC's Fragile X Syndrome home page.
- Genetics Home Reference (GHR) contains information on Fragile X syndrome. This website is maintained by the National Library of Medicine.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Fragile X syndrome. Click on the link to view a sample search on this topic.