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</div><div><span>Rubinstein-Taybi 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">Rubinstein-Taybi syndrome</h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>Rubinstein-Taybi syndrome (RTS) is a genetic disease. It involves broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability.</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>RTS is a rare condition. Variations in the genes <em>CREBBP</em> or <em>EP300</em> are seen in some people with this condition.</p><p>Some people are missing the gene entirely. This is more typical in people with more severe problems.</p><p>Most cases are sporadic (not passed down through families). They are likely due to a new genetic variant that occurs either in the sperm or egg cells, or at the time of conception.</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 include:</p><ul><li>Broadening of the thumbs and big toes</li><li>Constipation</li><li>Excess hair on body (hirsutism)</li><li>Heart defects, possibly requiring surgery</li><li><a test="test" href="./001523.htm">Intellectual disability</a></li><li>Seizures</li><li><a test="test" href="./003271.htm">Short stature</a> that is noticeable after birth</li><li>Slow development of cognitive skills</li><li>Slow development of motor skills accompanied by low muscle tone </li></ul><p>Other signs and symptoms may include:</p><ul><li>Absent or extra kidney, and other problems with kidney or bladder</li><li>An underdeveloped bone in the midface</li><li>Unsteady or stiff walking gait</li><li>Downward-slanted eyes</li><li><a test="test" href="./003303.htm">Low-set ears</a> or malformed ears</li><li>Drooping eyelid (<a test="test" href="./001018.htm">ptosis</a>)</li><li><a test="test" href="./001001.htm">Cataracts</a></li><li><a test="test" href="./003318.htm">Coloboma</a> (a defect in the iris of the eye)</li><li><a test="test" href="./003272.htm">Microcephaly</a> (excessively small head)</li><li>Narrow, small, or recessed mouth with crowded teeth</li><li>Prominent or "beaked" nose</li><li>Thick and arched eyebrows with long eyelashes</li><li>Undescended testicle (<a test="test" href="./000973.htm">cryptorchidism</a>), or other testicular problems </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>Your health care provider will perform a physical exam. Blood tests and x-rays may also be done.</p><p>Genetic tests can be done to determine if the genes involved in this disease are missing or changed.</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 RTS. However, the following treatments can be used to manage problems commonly associated with the condition.</p><ul><li>Surgery to repair the bones in the thumbs or toes can sometimes improve grasp or relieve discomfort.</li><li>Early intervention programs and special education to address developmental disabilities.</li><li>Referral to behavioral specialists and support groups for family members.</li><li>Medical treatment for heart defects, hearing loss, and eye abnormalities.</li><li>Treatment for constipation and gastroesophageal reflux (GERD).</li></ul></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 RTS and their families can be found at:</p><ul><li>Special Friends Foundation -- <a class="extln" target="_blank" href="https://specialfriends.org">specialfriends.org</a></li><li>Rubinstein-Taybi Syndrome Children's Foundation -- <a class="extln" target="_blank" href="https://www.facebook.com/RTSCF/">www.facebook.com/RTSCF/</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>The majority of children can learn to read at an elementary level. The majority of children have delayed motor development, but on average, they learn to walk by 2 1/2 years of age.</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 depend on what part of the body is affected. Complications may include:</p><ul><li>Feeding problems in infants</li><li>Repeated ear infections and hearing loss</li><li>Problems with the shape of the heart</li><li>Abnormal heartbeat</li><li>Scarring of the skin </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-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>An appointment with a geneticist is recommended if your provider finds signs of RTS.</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-9" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-9"><p>Genetic counseling is advised for couples with a family history of this disease who are planning a pregnancy.</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>Rubinstein syndrome, RTS</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> Burkardt DD, Graham JM. Abnormal body size and proportion. In: Pyeritz RE, Korf BR, Grody WW, eds. <em>Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications.</em> 7th ed. Cambridge, MA: Elsevier Academic Press; 2019:chap 4.</p><p>Jones KL, Jones MC, Campo MD. Very small stature, not skeletal dysplasia. In: Jones KL, Jones MC, Campo MD, eds. <em>Smith's Recognizable Patterns of Human Malformation</em>. 8th ed. Philadelphia, PA: Elsevier; 2022:100-133.</p><p>Wynshaw-Boris A, Klein O. Developmental genetics and birth defects. In: Cohn RD, Scherer SW, Hamosh A, eds. <em>Thompson & Thompson Genetics and Genomics in Medicine</em>. 9th ed. Philadelphia, PA: Elsevier; 2024:chap 15.</p></div></div></section>
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<section><div class="section"><div class="section-header"><div class="section-title"><h2>Review Date 9/18/2023</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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