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<h1 id="firstHeading" class="firstHeading mw-first-heading"><span class="mw-page-title-main">Snyder-Robinson-Syndrom</span></h1>
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<th colspan="2" style="background:#99CCFF; color:#202122; text-align:center; font-size:115%; border:2px solid #99CCFF;">Klassifikation nach <a href="ICD-10" title="ICD-10">ICD-10</a>
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<td style="min-width:8ex;">Q87.8
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<td>Sonstige näher bezeichnete angeborene Fehlbildungssyndrome, anderenorts nicht klassifiziert
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<td><span style="display:none;">Vorlage:Infobox ICD/Wartung</span>
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<td colspan="2" style="border-top:0.2ex solid #CCCCCC; padding:.4ex 1ex .4ex 0; text-align:center; vertical-align:top;"><a rel="nofollow" class="external text" href="https://klassifikationen.bfarm.de/icd-10-who/kode-suche/htmlamtl2019/index.htm">ICD-10 online (WHO-Version 2019)</a>
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<p>Das <b>Snyder-Robinson-Syndrom</b> ist eine sehr seltene <a href="Erbkrankheit" title="Erbkrankheit">angeborene Erkrankung</a> mit den Hauptmerkmalen <a href="Geistige_Behinderung" title="Geistige Behinderung">geistige Behinderung</a>, <a href="Muskelhypotonie" title="Muskelhypotonie">Muskelhypotonie</a>, Gangunsicherheit, <a href="Osteoporose" title="Osteoporose">Osteoporose</a>, <a href="Kyphoskoliose" class="mw-redirect" title="Kyphoskoliose">Kyphoskoliose</a> und <a href="Asymmetrie" title="Asymmetrie">Asymmetrie</a> des <a href="Gesicht" title="Gesicht">Gesichtes</a>.<sup id="cite_ref-Orpha_1-0" class="reference"><a href="#cite_note-Orpha-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup>
</p><p><a href="Synonym" title="Synonym">Synonyme</a> sind: <i><span style="font-style:normal;font-weight:normal"><a href="Englische_Sprache" title="Englische Sprache">englisch</a></span> <span lang="en-Latn" style="font-style:italic">mental retardation, X-linked, syndromic, Snyder-Robinson type; Snyder-Robinson X-linked mental retardation syndrome; spermine synthase deficiency</span></i><sup id="cite_ref-2" class="reference"><a href="#cite_note-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup>
</p><p>Die Bezeichnung bezieht sich auf die Autoren der Erstbeschreibung aus dem Jahre 1969 durch <i>R. D. Snyder</i> und <i>A. Robinson</i>.<sup id="cite_ref-3" class="reference"><a href="#cite_note-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup>
</p>

<div class="mw-heading mw-heading2"><h2 id="Verbreitung">Verbreitung</h2></div>
<p>Die Häufigkeit wird mit unter 1 zu 1.000.000 angegeben, die Vererbung erfolgt <a href="X-chromosomal" class="mw-redirect" title="X-chromosomal">X-chromosomal</a>-<a href="Rezessiv" title="Rezessiv">rezessiv</a>.<sup id="cite_ref-Orpha_1-1" class="reference"><a href="#cite_note-Orpha-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup>
</p>
<div class="mw-heading mw-heading2"><h2 id="Ursache">Ursache</h2></div>
<p>Der Erkrankung liegen <a href="Mutation" title="Mutation">Mutationen</a> im <i>SMS</i>-<a href="Gen" title="Gen">Gen</a> an der <a href="Location" title="Location">Location</a> Xp22.11 zugrunde, was für die <a href="Spermin" title="Spermin">Spermin</a>-<a href="Synthasen" title="Synthasen">Synthase</a> kodiert.<sup id="cite_ref-4" class="reference"><a href="#cite_note-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup>
</p>
<div class="mw-heading mw-heading2"><h2 id="Klinische_Erscheinungen">Klinische Erscheinungen</h2></div>
<p>Klinische Kriterien sind:<sup id="cite_ref-GR_5-0" class="reference"><a href="#cite_note-GR-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup>
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<ul><li><a href="Asthenisch" title="Asthenisch">Asthenischer</a> <a href="Habitus_(Biologie)" title="Habitus (Biologie)">Körperbau</a></li>
<li>Entwicklungsverzögerung bis zur geistigen Behinderung</li>
<li>Gesichtsauffälligkeiten mit auffallender <a href="Unterlippe" class="mw-redirect" title="Unterlippe">Unterlippe</a></li>
<li>ungewöhnliche <a href="Sprache" title="Sprache">Sprache</a></li>
<li>Kyphoskoliose</li>
<li><a href="Osteoporose" title="Osteoporose">Osteoporose</a> mit erhöhtem Risiko von <a href="Knochenbruch" title="Knochenbruch">Knochenbrüchen</a>, <a href="Kontraktur" title="Kontraktur">Gelenkkontrakturen</a></li></ul>
<div class="mw-heading mw-heading2"><h2 id="Diagnose">Diagnose</h2></div>
<p>Der klinische Verdacht kann <a href="Molekulargenetik" class="mw-redirect" title="Molekulargenetik">molekulargenetisch</a> gesichert werden.<sup id="cite_ref-GR_5-1" class="reference"><a href="#cite_note-GR-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup>
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<div class="mw-heading mw-heading2"><h2 id="Differentialdiagnose">Differentialdiagnose</h2></div>
<p>Differentialdiagnostisch abzugrenzen sind:<sup id="cite_ref-GR_5-2" class="reference"><a href="#cite_note-GR-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup>
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<ul><li><a href="Monoaminoxidase-A-Mangel" title="Monoaminoxidase-A-Mangel">Monoaminoxidase-A-Mangel</a><sup id="cite_ref-6" class="reference"><a href="#cite_note-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup></li>
<li><a href="Glycerol-Kinase-Mangel" title="Glycerol-Kinase-Mangel">Glycerol-Kinase-Mangel</a></li>
<li><a href="Prader-Willi-Syndrom" title="Prader-Willi-Syndrom">Prader-Willi-Syndrom</a></li>
<li><a href="Rett-Syndrom" title="Rett-Syndrom">Rett-Syndrom</a></li></ul>
<div class="mw-heading mw-heading2"><h2 id="Literatur">Literatur</h2></div>
<ul><li>Y. Peng, J. Norris, C. Schwartz, E. Alexov: <i>Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase.</i> In: <i>International journal of molecular sciences.</i> Bd. 17, Nr. 1, 2016, <a href="https://doi.org/10.3390/ijms17010077" class="extiw external" title="doi:10.3390/ijms17010077">doi:10.3390/ijms17010077</a>, <a class="external mw-magiclink-pmid" rel="nofollow" href="https://www.ncbi.nlm.nih.gov/pubmed/26761001?dopt=Abstract">PMID 26761001</a>.</li>
<li>J. S. Albert, N. Bhattacharyya, L. A. Wolfe, W. P. Bone, V. Maduro, J. Accardi, D. R. Adams, C. E. Schwartz, J. Norris, T. Wood, R. I. Gafni, M. T. Collins, L. L. Tosi, T. C. Markello, W. A. Gahl, C. F. Boerkoel: <i>Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.</i> In: <i>Orphanet Journal of Rare Diseases.</i> Bd. 10, 2015, S.&nbsp;27, <a href="https://doi.org/10.1186/s13023-015-0235-8" class="extiw external" title="doi:10.1186/s13023-015-0235-8">doi:10.1186/s13023-015-0235-8</a>, <a class="external mw-magiclink-pmid" rel="nofollow" href="https://www.ncbi.nlm.nih.gov/pubmed/25888122?dopt=Abstract">PMID 25888122</a>, <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4428506/">PMC&nbsp;4428506</a> (freier Volltext).</li></ul>
<div class="mw-heading mw-heading2"><h2 id="Einzelnachweise">Einzelnachweise</h2></div>
<ol class="references">
<li id="cite_note-Orpha-1"><span class="mw-cite-backlink">↑ <sup><a href="#cite_ref-Orpha_1-0">a</a></sup> <sup><a href="#cite_ref-Orpha_1-1">b</a></sup></span> <span class="reference-text">Eintrag zu <a rel="nofollow" class="external text" href="https://www.orpha.net/de/disease/detail/3063"><i>Intelligenzminderung, X-chromosomale, Typ Snyder.</i></a> In: <i><a href="Orphanet" title="Orphanet">Orphanet</a></i> (Datenbank für seltene Krankheiten)<span class="editoronly" style="display:none;"></span></span>
</li>
<li id="cite_note-2"><span class="mw-cite-backlink"><a href="#cite_ref-2">↑</a></span> <span class="reference-text"><a rel="nofollow" class="external text" href="https://medlineplus.gov/genetics/condition/snyder-robinson-syndrome/">Medline Plus</a></span>
</li>
<li id="cite_note-3"><span class="mw-cite-backlink"><a href="#cite_ref-3">↑</a></span> <span class="reference-text">R. D. Snyder, A. Robinson: <i>Recessive sex-linked mental retardation in the absence of other recognizable abnormalities. Report of a family.</i> In: <i>Clinical pediatrics.</i> Bd. 8, Nr. 11, November 1969, S.&nbsp;669–674, <a class="external mw-magiclink-pmid" rel="nofollow" href="https://www.ncbi.nlm.nih.gov/pubmed/5823961?dopt=Abstract">PMID 5823961</a>.</span>
</li>
<li id="cite_note-4"><span class="mw-cite-backlink"><a href="#cite_ref-4">↑</a></span> <span class="reference-text"><a rel="nofollow" class="external text" href="https://omim.org/entry/309583"><i>Mental retardation, X-linked, Snyder-Robinson type.</i></a>&nbsp;In: <i><span lang="en"><a href="Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">Online Mendelian Inheritance in Man</a></span>.</i> (englisch)<span class="editoronly" style="display:none;"></span></span>
</li>
<li id="cite_note-GR-5"><span class="mw-cite-backlink">↑ <sup><a href="#cite_ref-GR_5-0">a</a></sup> <sup><a href="#cite_ref-GR_5-1">b</a></sup> <sup><a href="#cite_ref-GR_5-2">c</a></sup></span> <span class="reference-text"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK144284/">Gene Reviews</a></span>
</li>
<li id="cite_note-6"><span class="mw-cite-backlink"><a href="#cite_ref-6">↑</a></span> <span class="reference-text">Eintrag zu <a rel="nofollow" class="external text" href="https://www.orpha.net/de/disease/detail/3057"><i>Monoaminoxidase-A-Mangel.</i></a> In: <i><a href="Orphanet" title="Orphanet">Orphanet</a></i> (Datenbank für seltene Krankheiten)<span class="editoronly" style="display:none;"></span></span>
</li>
</ol>
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