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<link rel="alternative" hreflang="en" href="https://medlineplus.gov/ency/article/001668.htm"/><meta property="og:title" content="Fragile X syndrome: MedlinePlus Medical Encyclopedia"/><meta property="og:url" content="https://medlineplus.gov/ency/article/001668.htm"/><meta property="twitter:title" content="Fragile X syndrome: MedlinePlus Medical Encyclopedia"/><meta name="twitter:card" content="summary_large_image"/><meta name="description" content="Fragile 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."/><meta itemprop="description" name="description" content="Fragile 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."/><meta property="og:description" content="Fragile 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."/><meta property="twitter:description" content="Fragile 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."/><meta property="og:image" content="https://medlineplus.gov/images/share_ency_1.jpg"/><meta property="og:image" content="https://medlineplus.gov/images/share_ency_2.jpg"/><meta property="og:image" content="https://medlineplus.gov/images/share_ency_3.jpg"/><meta property="twitter:image" content="https://medlineplus.gov/images/share_ency_1.jpg"/>
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</div><div><span>Fragile X syndrome</span></div></div>
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<article><div id="d-article"><div class="page-info"><div class="page-title"><a name="start" id="start">
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</a><h1 class="with-also" itemprop="name">Fragile X syndrome</h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>Fragile X syndrome is a genetic condition involving changes in a gene on the X chromosome. It is the most common form of inherited <a test="test" href="./001523.htm">intellectual disability</a> in boys.</p></div><section><div class="section"><div class="section-header"><div class="section-title"><h2>Causes</h2></div><div class="section-button"><button type="submit" aria-controls="section-1" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-1"><p>Fragile X syndrome is caused by a change in a gene called <em>FMR1</em>. 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.</p><p>The <em>FMR1</em> 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.</p><p>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.</p><p>A family history of fragile X syndrome, developmental problems, or intellectual disability may not be present.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Symptoms</h2></div><div class="section-button"><button type="submit" aria-controls="section-2" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-2"><p>Behavior problems associated with fragile X syndrome include:</p><ul><li>Autism spectrum disorder</li><li>Delay in crawling, walking, or twisting</li><li>Hand flapping or hand biting</li><li>Hyperactive or impulsive behavior</li><li>
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Intellectual disability
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</li><li><a test="test" href="./001430.htm">Speech and language delay</a></li><li>Tendency to avoid eye contact </li></ul><p>Physical signs may include:</p><ul><li>Flat feet</li><li>Flexible joints and low muscle tone</li><li>Large body size</li><li>Large forehead or ears with a prominent jaw</li><li>Long face</li><li>Soft skin </li></ul><p>Some of these problems are present at birth, while others may not develop until after puberty.</p><p>Family members who have fewer repeats in the <em>FMR1</em> gene may not have intellectual disability. Women may have premature <a test="test" href="./000894.htm">menopause</a> or difficulty becoming pregnant. Both men and women may have problems with tremors and poor coordination.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Exams and Tests</h2></div><div class="section-button"><button type="submit" aria-controls="section-3" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-3"><p>There are very few outward signs of fragile X syndrome in babies. Some things that your health care provider may look for include:</p><ul><li>
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Large head circumference in babies
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</li><li>
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Intellectual disability
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</li><li>
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Large testicles after the start of puberty
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</li><li>
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Subtle differences in face features
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</li></ul><p>In females, excess shyness may be the only sign of the disorder.</p><p>Genetic testing can diagnose this disease.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Treatment</h2></div><div class="section-button"><button type="submit" aria-controls="section-4" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-4"><p>There 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 (<a class="extln" target="_blank" href="https://www.clinicaltrials.gov">www.clinicaltrials.gov</a>) and looking at several possible medicines for treating fragile X syndrome.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Support Groups</h2></div><div class="section-button"><button type="submit" aria-controls="section-5" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-5"><p>More information and support for people with Fragile X condition and their families can be found at:</p><ul><li>National Fragile X Foundation -- <a class="extln" target="_blank" href="https://fragilex.org/">fragilex.org</a></li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Outlook (Prognosis)</h2></div><div class="section-button"><button type="submit" aria-controls="section-6" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-6"><p>How well the person does depends on the amount of intellectual disability.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Possible Complications</h2></div><div class="section-button"><button type="submit" aria-controls="section-7" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-7"><p>Complications vary, depending on the type and severity of symptoms. They may include:</p><ul><li>Recurrent ear infections in children</li><li>Seizure disorder</li></ul><p>Fragile X syndrome can be a cause of autism or related disorders, although not all children with fragile X syndrome have these conditions.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Prevention</h2></div><div class="section-button"><button type="submit" aria-controls="section-8" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-8"><p>Genetic 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.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Alternative Names</h2></div><div class="section-button"><button type="submit" aria-controls="section-Alt" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Alt"><p>Martin-Bell syndrome; Marker X syndrome</p></div></div></section><section><div class="section sec-mb"><div class="section-header"><div class="section-title"><h2>Images</h2></div><div class="section-button"><button type="submit" aria-controls="section-tnails" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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<li><img src="//medlineplus.gov/ency/images/ency/tnails/8770t.jpg" alt="Chromosomes and DNA" title="Chromosomes and DNA" class="side-img"/><a href="../imagepages/8770.htm">Chromosomes and DNA</a></li>
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</ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>References</h2></div><div class="section-button"><button type="submit" aria-controls="section-Ref" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Ref"><p>Gregg 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). <em>Genet Med.</em> 2021;23(10):1793-1806. PMID: 34285390 <a href="https://pubmed.ncbi.nlm.nih.gov/34285390/" target="_blank">pubmed.ncbi.nlm.nih.gov/34285390/</a>.</p><p>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. <em>Robbins & Kumar Basic Pathology</em>. 11th ed. Philadelphia, PA: Elsevier; 2023:chap 4.</p><p>Madan-Khetarpal S, Arnold G, Ortiz D. Genetic disorders and dysmorphic conditions. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. <em>Zitelli and Davis' Atlas of Pediatric Physical Diagnosis.</em> 8th ed. Philadelphia, PA: Elsevier; 2023:chap 1.</p><p>National Center for Advancing Translational Sciences. Genetic and Rare Diseases Information Center website. Fragile X syndrome. <a href="https://rarediseases.info.nih.gov/diseases/6464/fragile-x-syndrome" target="_blank">rarediseases.info.nih.gov/diseases/6464/fragile-x-syndrome</a>. Updated February 2023. Accessed October 17, 2023.</p></div></div></section>
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