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Diseases

Genetic and Rare Diseases Information Center (GARD)

Fragile X syndrome


Other Names for this Disease
  • Marker X syndrome
  • Martin-Bell syndrome
  • FRAXA syndrome
  • Fra(X) syndrome
  • FXS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

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How might fragile X syndrome be treated?

There is no specific treatment available for fragile X syndrome.  Management of this condition is generally supportive and may include:
  • recognizing the need for special education and avoiding excessive stimulation, which may help with behavioral problems
  • early educational intervention and special education that is tailored to specific learning difficulties; small class size, individual attention and avoidance of sudden change is often needed
  • medications for behavioral issues that affect social interaction
  • routine medical management of strabismus, ear infections, reflux, seizures, mitral valve prolapse, and/or high blood pressure.[1]
Last updated: 1/28/2015

References
  1. Robert A Saul and Jack C Tarleton. FMR1-Related Disorders. GeneReviews. April 26, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1384/.


GARD Video Tutorial

  • Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.

    Finding Treatment Information

Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • American Academy of Pediatrics Guidelines: Health Supervision for Children with Fragile X Pediatrics 2011; 127: 994-1006.
  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Fragile X syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
  • The National Fragile X Foundation provides a state by state list of clinical trials involving fragile X-associated disorders. Click on National Fragile X Foundation to view the list.
Other Names for this Disease
  • Marker X syndrome
  • Martin-Bell syndrome
  • FRAXA syndrome
  • Fra(X) syndrome
  • FXS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.