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</div><div><span>Skeletal limb abnormalities</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">Skeletal limb abnormalities</h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>Skeletal limb abnormalities refers to a variety of bone structure problems in the arms or legs (limbs).</p></div><section><div class="section"><div class="section-header"><div class="section-title"><h2>Considerations</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>The term skeletal limb abnormalities is most often used to describe defects in the legs or arms that are due to a problem with genes or chromosomes, or that occur due to an event that happens during pregnancy.</p><p>The abnormalities are often present at birth.</p><p>Limb abnormalities can develop after birth if a person has <a test="test" href="./000344.htm">rickets</a> or other diseases that affect bone structure.</p></div></div></section><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-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>Skeletal limb abnormalities may be due to any of the following:</p><ul><li>Cancer</li><li>Genetic diseases and chromosomal abnormalities, including <a test="test" href="./000418.htm">Marfan syndrome</a>, <a test="test" href="./000997.htm">Down syndrome</a>, <a test="test" href="./001581.htm">Apert syndrome</a>, and <a test="test" href="./001452.htm">Basal cell nevus syndrome</a></li><li>Improper position in the womb</li><li>Infections during pregnancy</li><li>Injury during birth</li><li>Malnutrition</li><li><a test="test" href="./002257.htm">Metabolism</a> problems</li><li>Pregnancy problems, including limb amputation from amniotic band disruption sequence</li><li>Use of certain medicines during pregnancy including thalidomide, which causes the upper part of the arms or legs to be missing, and aminopterin, which leads to shortness of the forearm </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-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>Contact your health care provider if you have any concerns about limb length or appearance.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>What to Expect at Your Office Visit</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>An infant with limb abnormalities generally has other symptoms and signs that, when taken together, define a specific syndrome or condition or give a clue as to the cause of the abnormality. Diagnosis is based on a family history, medical history, and thorough physical evaluation.</p><p>Medical history questions may include:</p><ul><li>Does anyone in your family have skeletal abnormalities?</li><li>Were there any problems during pregnancy?</li><li>What drugs or medicines were taken during the pregnancy?</li><li>What other symptoms or abnormalities are present? </li></ul><p>Other tests such as <a test="test" href="./003935.htm">chromosome studies</a>, <a test="test" href="./002353.htm">enzyme</a> assays, x-rays, and metabolic studies may be done.</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>Herring JA. Skeletal dysplasias. In: Herring JA, ed. <em>Tachdjian's Pediatric Orthopaedics</em>. 6th ed. Philadelphia, PA: Elsevier; 2022:chap 36.</p><p>McClincy MP, Olgun ZD, Dede O. Orthopedics. 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 22.</p><p>McCandless SE, Kripps KA. Genetics, inborn errors of metabolism, and newborn screening. In: Fanaroff AA, Fanaroff JM, eds. <em>Klaus and Fanaroff's Care of the High Risk Neonate</em>. 7th ed. Philadelphia, PA: Elsevier; 2020:chap 6.</p></div></div></section>
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<section><div class="section"><div class="section-header"><div class="section-title"><h2>Review Date 10/22/2022</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: Charles I. Schwartz MD, FAAP, Clinical Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, General Pediatrician at PennCare for Kids, Phoenixville, PA. 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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