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</div><div><span>Aarskog 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">Aarskog syndrome</h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>Aarskog syndrome is a very rare disease that affects a person's height, muscles, skeleton, genitals, and appearance. It can be passed down through families (inherited).</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>Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females may have a milder form. The condition is caused by changes (mutations) in a gene called "faciogenital dysplasia" (<em>FGD1</em>).</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 condition include:</p><ul><li>Belly button that sticks out</li><li>Bulge in the groin or scrotum</li><li>Delayed sexual maturity</li><li>Delayed teeth</li><li>Downward <a test="test" href="./003316.htm">palpebral slant</a> to eyes (palpebral slant is the direction of the slant from the inner to outer corner of the eye)</li><li>Hairline with a "widow's peak"</li><li>Mildly sunken chest (pectus excavatum)</li><li>Mild to moderate cognitive problems</li><li>Mild to moderate <a test="test" href="./003271.htm">short height</a>, which may not be obvious until the child is 1 to 3 years old</li><li>Poorly developed middle section of the face</li><li>Rounded face</li><li>Scrotum surrounds the penis (shawl scrotum)</li><li>Short fingers and toes with mild <a test="test" href="./003289.htm">webbing</a></li><li>Single crease in the palm of the hand</li><li>Small, broad hands and feet with short fingers and curved-in fifth finger</li><li>Small nose with nostrils tipped forward</li><li>Testicles that have not come down (<a test="test" href="./000973.htm">undescended</a>)</li><li>Top portion of the ear folded over slightly</li><li>Wide groove above the upper lip, crease below the lower lip</li><li>Wide-set eyes with droopy eyelids </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>These tests may be done:</p><ul><li>Genetic testing for mutations in the <em>FGD1</em> gene</li><li>X-rays </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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</div></div><div class="section-body" id="section-4"><p>Moving the teeth may be done to treat some of the abnormal dental features a person with Aarskog syndrome may have.</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 Aarskog syndrome and their families can be found at:</p><ul><li>National Organization for Rare Disorders -- <a class="extln" target="_blank" href="https://rarediseases.org/rare-diseases/aarskog-syndrome">rarediseases.org/rare-diseases/aarskog-syndrome</a></li><li>NIH Genetic and Rare Diseases Information Center -- <a class="extln" target="_blank" href="https://rarediseases.info.nih.gov/diseases/4775/aarskog-syndrome">rarediseases.info.nih.gov/diseases/4775/aarskog-syndrome</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>Some people may have some mental slowness, but children with this condition often have good social skills. Some males may have problems with fertility.</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>These complications can occur:</p><ul><li>Changes in the brain</li><li>Difficulty growing in the first year of life</li><li>Poorly aligned teeth</li><li>Seizures</li><li>Undescended testicles</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 health care provider if your child has delayed growth or if you notice any symptoms of Aarskog syndrome. Seek genetic counseling if you have a family history of Aarskog syndrome. Contact a genetic specialist if your provider thinks you or your child may have Aarskog syndrome.</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 testing may be available for people with a family history of the condition or a known mutation of the gene that causes it.
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</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>Aarskog disease; Aarskog-Scott syndrome; AAS; Faciodigitogenital syndrome; Gaciogenital dysplasia</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/1095t.jpg" alt="The face" title="The face" class="side-img"/><a href="../imagepages/1095.htm">The face</a></li>
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<li><img src="//medlineplus.gov/ency/images/ency/tnails/2927t.jpg" alt="Pectus excavatum" title="Pectus excavatum" class="side-img"/><a href="../imagepages/2927.htm">Pectus excavatum</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>D'Cunha Burkardt D, 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. Philadelphia, PA: Elsevier; 2019:chap 4.</p><p>Haddad J. Congenital malformations of the ear. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. <em>Nelson Textbook of Pediatrics</em>. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 678.</p><p>Jones KL, Jones MC, Del Campo M. Moderate short stature, facial ± genital. In: Jones KL, Jones MC, Del Campo M, eds. <em>Smith's Recognizable Patterns of Human Malformation</em>. 8th ed. Philadelphia, PA: Elsevier; 2022:chap D.</p></div></div></section>
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