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</div><div><span>Treacher Collins 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">Treacher Collins syndrome</h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>Treacher Collins syndrome is a genetic condition that leads to problems with the structure of the face. Most cases are not passed down through families.</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>Changes to one of three genes, <em>TCOF1</em>, <em>POLR1C</em>, or <em>POLR1D</em>, can lead to Treacher Collins syndrome. The condition can be passed down through families (inherited). However, most of the time, there is not another affected family member.</p><p>This condition may vary in severity from generation to generation and from person to person.</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 may include:</p><ul><li>Outer part of the ears are abnormal or almost completely missing</li><li>Hearing loss</li><li>Very small jaw (<a test="test" href="./003306.htm">micrognathia</a>)</li><li>Very large mouth</li><li>Defect in the lower eyelid</li><li>Scalp hair that reaches to the cheeks</li><li><a test="test" href="./001051.htm">Cleft palate</a></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 child most often will show normal intelligence. An exam of the infant may reveal a variety of problems, including:</p><ul><li>Abnormal eye shape</li><li>Flat cheekbones</li><li>Cleft palate or lip</li><li>Small jaw</li><li><a test="test" href="./003303.htm">Low-set ears</a></li><li>Abnormally formed ears</li><li>Abnormal ear canal</li><li><a test="test" href="./003044.htm">Hearing loss</a></li><li>Defects in the eye</li><li>Decreased eyelashes on the lower eyelid</li></ul><p>Genetic tests can help identify gene changes linked to this condition.</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>Hearing loss is treated to ensure better performance in school.</p><p>Being followed by a plastic surgeon is very important, because children with this condition may need a series of operations to correct birth defects. Plastic surgery can correct the <a test="test" href="./003306.htm">receding chin</a> and other changes in face structure.</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 Treacher Collins syndrome and their families can be found at:</p><ul><li>FACES: The National Craniofacial Association -- <a class="extln" target="_blank" href="https://www.faces-cranio.org/">www.faces-cranio.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>Children with this syndrome typically grow to become functioning adults of normal intelligence.</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 may include:</p><ul><li>Feeding difficulty</li><li>Speaking difficulty</li><li>Communication problems</li><li><a test="test" href="./003029.htm">Vision problems</a></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>This condition is most often seen at birth.</p><p> Genetic counseling can help families understand the condition and how to care for the person.</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 recommended if you have a family history of this syndrome and wish to become pregnant.</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>Mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome</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>Dhar V. Syndromes with oral manifestations. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. <em>Nelson Textbook of Pediatrics. </em>21st ed. Philadelphia, PA: Elsevier; 2020:chap 337.</p><p>Goldstein JA, Davit AJ, Losee JE. Pediatric plastic surgery. 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 23.</p><p>National Center for Advancing Translational Sciences. Genetic and Rare Diseases Information Center website. Treacher-Collins syndrome. <a href="https://rarediseases.info.nih.gov/diseases/9124/treacher-collins-syndrome" target="_blank">rarediseases.info.nih.gov/diseases/9124/treacher-collins-syndrome</a>. Updated February 2023. Accessed October 17, 2023.</p><p>Posnick JC, Tiwana PS, Panchal NH. Treacher Collins syndrome: evaluation and treatment. In: Fonseca RJ, ed. <em>Oral and Maxillofacial Surgery.</em> 3rd ed. St Louis, MO: Elsevier; 2018:chap 40.</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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<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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