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</div><div><span>Russell-Silver 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">Russell-Silver syndrome</h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>Russell-Silver syndrome (RSS) is a disorder present at birth involving poor growth. One side of the body may also appear to be larger than the other.</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>One in 10 children with this syndrome has a problem involving chromosome 7. In other people with the syndrome, it may be due to a problem with chromosome 11.</p><p>Most of the time, it occurs in people with no family history of the disease.</p><p>The estimated number of people who develop this condition varies greatly. Males and females are equally affected.</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>Symptoms can include:</p><ul><li>Birthmarks that are the color of coffee with milk (<a test="test" href="./000828.htm">cafe-au-lait</a> marks)</li><li>Large head for body size, wide projecting forehead with a small triangle-shaped face and small, narrow chin</li><li>Curving of the pinky toward the ring finger</li><li><a test="test" href="./000991.htm">Failure to thrive</a>, including delayed bone age</li><li>Low birth weight</li><li>Short height, short arms, stubby fingers and toes</li><li>All or part of one side of the body is smaller than the other side (asymmetry)</li><li>Stomach and intestine problems such as acid reflux and constipation</li></ul></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>The condition is usually diagnosed by early childhood. The health care provider will perform a physical exam.</p><p>There are no specific laboratory tests to diagnose RSS. Diagnosis is usually based on the judgment of your child's provider. However, the following tests may be done:</p><ul><li><a test="test" href="./003482.htm">Blood sugar</a> (some children may have low blood sugar)</li><li>Bone age testing (bone age is often younger than the child's actual age)</li><li>Genetic testing (may detect a chromosomal problem)</li><li><a test="test" href="./003706.htm">Growth hormone</a> (some children may have a deficiency)</li><li><a test="test" href="./003381.htm">Skeletal survey</a> (to rule out other conditions that may mimic RSS) </li></ul></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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Growth hormone replacement may help if this hormone is lacking. Other treatments include:</p><ul><li>Making sure the person gets enough calories to prevent low blood sugar and promote growth</li><li>Physical therapy to improve muscle tone</li><li>Educational assistance to address learning disabilities and <a test="test" href="./001551.htm">attention deficit problems</a> the child may have </li></ul><p>Many specialists may be involved in treating a person with this condition. They include:</p><ul><li>A doctor specializing in genetics to help diagnose RSS</li><li>A gastroenterologist or dietician to help develop the proper diet to enhance growth</li><li>An endocrinologist to prescribe growth hormone</li><li>A genetic counselor and psychologist </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-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>Older children and adults do not show typical features as clearly as infants or younger children. Intelligence may be normal, although the person may have a learning disability. Birth defects of the urinary tract may be present.</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-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>People with RSS may have these problems:</p><ul><li>Chewing or speaking difficulty if jaw is very small</li><li>Learning disabilities</li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>When to Contact a Medical Professional</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>Contact your child's provider if signs of RSS develop. Make sure your child's height and weight are measured during each well-child visit. The provider may refer you to: </p><ul><li>A genetic professional for a full evaluation and chromosome studies</li><li>A pediatric endocrinologist for management of your child's growth problems</li></ul></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>Silver-Russell syndrome; Silver syndrome; RSS</p></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>Haldeman-Englert CR, Saitta SC, Zackai EH. Chromosome disorders. In: Gleason CA, Juul SE, eds. <em>Avery's Diseases of the Newborn.</em> 10th ed. Philadelphia, PA: Elsevier; 2018:chap 20.</p><p>Wakeling EL, Brioude F, Lokulo-Sodipe O, et al. Diagnosis and management of Silver-Russell syndrome: first international consensus statement. <em>Nat Rev Endocrinol.</em> 2017;13(2):105-124. PMID: 27585961 <a href="https://pubmed.ncbi.nlm.nih.gov/27585961/" target="_blank">pubmed.ncbi.nlm.nih.gov/27585961/</a>.</p></div></div></section>
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<section><div class="section"><div class="section-header"><div class="section-title"><h2>Review Date 10/13/2022</h2></div><div class="section-button"><button type="submit" aria-controls="section-version" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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<div id="section-version" class="section-body"><p>Updated 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. </p>
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