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</div><div><span>Acrodysostosis</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">Acrodysostosis</h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>Acrodysostosis is an extremely rare disorder that is present at birth (congenital). It leads to problems with the bones of the hands, feet, and nose, and 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>Most people with acrodysostosis have no family history of the disease. However, sometimes the condition is passed down from parent to child. Parents with the condition have a 1 in 2 chance of passing the disorder to their children.</p><p>There is a slightly greater risk with fathers who are older.</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 of this disorder include:</p><ul><li>Frequent middle <a test="test" href="./001336.htm">ear infections</a></li><li>Growth problems, short arms and legs</li><li>Hearing problems</li><li>Intellectual disability</li><li>The body doesn't respond to certain hormones, even though hormone levels are normal</li><li>Distinct facial features </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 health care provider can usually diagnose this condition with a physical exam. This may show any of the following:</p><ul><li>Advanced bone age</li><li>Bone deformities in hands and feet</li><li>Delays in growth</li><li>Problems with the skin, genitals, teeth, and skeleton</li><li>Short arms and legs with small hands and feet</li><li>Short head, measured front to back</li><li>Short height</li><li>Small, upturned broad nose with flat bridge</li><li>Distinct features of the face (short nose, open mouth, jaw that sticks out)</li><li>Unusual head</li><li>Wide-spaced eyes, sometimes with extra skin fold at corner of eye </li></ul><p>In the first months of life, x-rays may show spotty calcium deposits, called stippling, in bones (especially the nose). Infants may also have:</p><ul><li>Abnormally short fingers and toes</li><li>Early growth of bones in the hands and feet</li><li>Short bones</li><li>Shortening of the forearm bones near the wrist </li></ul><p>Two genes have been linked with this condition, and genetic testing may be done.</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>Treatment depends on the symptoms.</p><p>Hormones, such as growth hormone, may be given. Surgery to treat bone problems may be done.</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>These groups can provide more information on acrodysostosis:</p><ul><li>National Organization for Rare Disorders -- <a class="extln" target="_blank" href="https://rarediseases.org/rare-diseases/acrodysostosis">rarediseases.org/rare-diseases/acrodysostosis</a></li><li>NIH Genetic and Rare Diseases Information Center -- <a class="extln" target="_blank" href="https://rarediseases.info.nih.gov/diseases/5724/acrodysostosis">rarediseases.info.nih.gov/diseases/5724/acrodysostosis</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>Problems depend on the degree of skeletal involvement and <a test="test" href="./001523.htm">intellectual disability</a>. In general, people do well.</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>Acrodysostosis may lead to:</p><ul><li>Learning disability</li><li><a test="test" href="./001243.htm">Arthritis</a></li><li><a test="test" href="./000433.htm">Carpal tunnel syndrome</a></li><li>Worsening range of movement in the spine, elbows, and hands </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>Contact your child's provider if signs of acrodystosis 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>Arkless-Graham; Acrodysplasia; Maroteaux-Malamut</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/24470t.jpg" alt="Anterior skeletal anatomy" title="Anterior skeletal anatomy" class="side-img"/><a href="../imagepages/9065.htm">Anterior skeletal anatomy</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>Jones KL, Jones MC, del Campo M. Other skeletal dysplasias. In: Jones KL, Jones MC, del Campo M, eds. <em>Smith's Recognizable Patterns of Human Malformation</em>. 8th ed. Philadelphia, PA: Elsevier; 2022:600-637.</p><p>National Organization for Rare Disorders website. Acrodysostosis. <a href="https://rarediseases.org/rare-diseases/acrodysostosis" target="_blank">rarediseases.org/rare-diseases/acrodysostosis</a>. Updated August 13, 2014. Accessed November 28, 2022.</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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