Martin-Bell syndrome; Marker X syndrome DefinitionFragile X syndrome is a genetic condition involving changes in a gene on the X chromosome. It is the most common form of inherited intellectual disability in boys. CausesFragile X syndrome is caused by a change in a gene called FMR1. A small part of the gene code is repeated several times in one area of the X chromosome. The more repeats (also called gene expansion), the more likely the condition will occur. The FMR1 gene makes a protein needed for your brain to function properly. A defect in the gene makes your body produce too little of the protein, or none at all. Boys and girls can both be affected, but because boys have only one X chromosome, a single fragile X expansion is likely to affect them more severely. You can have fragile X syndrome even if your parents do not have it. A family history of fragile X syndrome, developmental problems, or intellectual disability may not be present. SymptomsBehavior problems associated with fragile X syndrome include:
Physical signs may include:
Some of these problems are present at birth, while others may not develop until after puberty. Family members who have fewer repeats in the FMR1 gene may not have intellectual disability. Women may have premature menopause or difficulty becoming pregnant. Both men and women may have problems with tremors and poor coordination. Exams and TestsThere are very few outward signs of fragile X syndrome in babies. Some things that your health care provider may look for include:
In females, excess shyness may be the only sign of the disorder. Genetic testing can diagnose this disease. TreatmentThere is no specific treatment for fragile X syndrome. Instead, training and education have been developed to help affected children function at the highest possible level. Clinical trials are ongoing (www.clinicaltrials.gov) and looking at several possible medicines for treating fragile X syndrome. Support GroupsMore information and support for people with Fragile X condition and their families can be found at:
Outlook (Prognosis)How well the person does depends on the amount of intellectual disability. Possible ComplicationsComplications vary, depending on the type and severity of symptoms. They may include:
Fragile X syndrome can be a cause of autism or related disorders, although not all children with fragile X syndrome have these conditions. PreventionGenetic counseling may be helpful if you have a family history of this syndrome. All pregnant women and those planning a pregnancy should be offered genetic screening for these conditions. ReferencesGregg AR, Aarabi M; ACMG Professional Practice and Guidelines Committee, et al. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(10):1793-1806. PMID: 34285390 pubmed.ncbi.nlm.nih.gov/34285390/. Kumar V, Abbas AK, Aster JC, Deyrup AT, Das A. Genetic and pediatric diseases. In: Kumar V, Abbas AK, Aster JC, Deyrup AT, Das A, eds. Robbins & Kumar Basic Pathology. 11th ed. Philadelphia, PA: Elsevier; 2023:chap 4. Madan-Khetarpal S, Arnold G, Ortiz D. Genetic disorders and dysmorphic conditions. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 1. National Center for Advancing Translational Sciences. Genetic and Rare Diseases Information Center website. Fragile X syndrome. rarediseases.info.nih.gov/diseases/6464/fragile-x-syndrome. Updated February 2023. Accessed October 17, 2023. | ||
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Review Date: 9/18/2023 Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. View References The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. No warranty of any kind, either expressed or implied, is made as to the accuracy, reliability, timeliness, or correctness of any translations made by a third-party service of the information provided herein into any other language. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited. | ||
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Chromosomes and DN
