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<title>
Entry
- #619542 - KING-DENBOROUGH SYNDROME; KDS
- OMIM
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<span class="h4">#619542</span>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/619542"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
<a href="#references"><strong>References</strong></a>
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<li role="presentation">
<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</span>
</div>
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
<div class="panel-body small mim-panel-body">
<div><a href="https://clinicaltrials.gov/search?cond=(KING-DENBOROUGH SYNDROME) OR (RYR1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=14314&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=619542[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99741" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0080990" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/619542" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:0080990" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 764957003<br />
<strong>ORPHA:</strong> 99741<br />
<strong>DO:</strong> 0080990<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
619542
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
KING-DENBOROUGH SYNDROME; KDS
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
KING SYNDROME
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/649?start=-3&limit=10&highlight=649">
19q13.2
</a>
</span>
</td>
<td>
<span class="mim-font">
King-Denborough syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619542"> 619542 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
RYR1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180901"> 180901 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/619542" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/619542" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/619542" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short stature (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Myopathic facies <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26432009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26432009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0332615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0332615</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002058" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002058</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002058" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002058</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Low-set ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95515009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95515009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239234&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239234</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ear,Low-Set-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Ptosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11934000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11934000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29696001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29696001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.409</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.3</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/374.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005745</a>, <a href="https://bioportal.bioontology.org/search?q=C0033377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ptosis-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Down-slanting palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246800008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246800008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423110&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423110</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Neck </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Webbed neck <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11731003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11731003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q18.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q18.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/744.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">744.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221217&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221217</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000465" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000465</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000465" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000465</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Joint laxity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298203008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298203008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/788453008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">788453008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862377</a>, <a href="https://bioportal.bioontology.org/search?q=C0086437&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086437</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Kyphoscoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405771009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405771009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405772002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405772002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405773007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405773007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0600033&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0600033</a>, <a href="https://bioportal.bioontology.org/search?q=C0575158&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575158</a>, <a href="https://bioportal.bioontology.org/search?q=C0345392&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345392</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002751</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0008453" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008453</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002751</a>]</span><br /> -
Lumbar lordosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/313471000119104" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">313471000119104</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1184923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1184923</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002938</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002938</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Patellar dislocation, recurrent <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/202246002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">202246002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M22.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M22.00</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M22.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M22.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0409412&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0409412</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005001</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002999" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002999</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MUSCLE, SOFT TISSUES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
Proximal muscle weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249939004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249939004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221629&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221629</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003701" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003701</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003701" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003701</a>]</span><br /> -
Muscle atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/88092000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">88092000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0541794&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0541794</a>, <a href="https://bioportal.bioontology.org/search?q=C0026846&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026846</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003202" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003202</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003202" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003202</a>]</span><br /> -
Variation in muscle fiber size <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843700&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843700</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003557" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003557</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003557" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003557</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Delayed motor development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854301</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> METABOLIC FEATURES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Malignant hyperthermia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405501007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405501007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/213026003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">213026003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/T88.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">T88.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/995.86" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">995.86</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024591&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024591</a>, <a href="https://bioportal.bioontology.org/search?q=C5779784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5779784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034733" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034733</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002047</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002047</a>]</span><br />
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<strong> LABORATORY ABNORMALITIES </strong>
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- Elevated serum creatine kinase, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5563471&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5563471</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Highly variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839039&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839039</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the ryanodine receptor-1 gene (RYR1, <a href="/entry/180901#0038">180901.0038</a>)<br />
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<p>A number sign (#) is used with this entry because of evidence that King-Denborough syndrome (KDS) is caused by heterozygous mutation in the RYR1 gene (<a href="/entry/180901">180901</a>) on chromosome 19q13.</p>
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<strong>Description</strong>
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<p>King-Denborough syndrome (KDS) is an autosomal dominant disorder characterized by the triad of congenital myopathy, dysmorphic features, and susceptibility to malignant hyperthermia (summary by <a href="#3" class="mim-tip-reference" title="Dowling, J. J., Lillis S., Amburgey, K., Zhou, H., Al-Sarraj, S., Buk, S. J. A., Wraige, E., Chow, G., Abbs, S., Leber, S., Lachlan, K., Baralle, D., Taylor, A., Sewry, C., Muntoni, F., Jungbluth, H. &lt;strong&gt;King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.&lt;/strong&gt; Neuromusc. Disord. 21: 420-427, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21514828/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21514828&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2011.03.006&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21514828">Dowling et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21514828" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p><a href="#8" class="mim-tip-reference" title="King, J. O., Denborough, M. A., Zapf, P. W. &lt;strong&gt;Inheritance of malignant hyperpyrexia.&lt;/strong&gt; Lancet 299: 365-370, 1972. Note: Originally Volume I.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4109748/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4109748&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(72)92854-1&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4109748">King et al. (1972)</a> reported a group of patients with myopathy and malignant hyperpyrexia (MH; <a href="/entry/145600">145600</a>) who also had physical abnormalities, including short stature, cryptorchidism, pectus carinatum, lumbar lordosis, thoracic kyphosis, and unusual facies. They noted that this form of MH, termed King syndrome, was likely to come to attention during corrective surgery. <a href="#9" class="mim-tip-reference" title="King, J. O., Denborough, M. A. &lt;strong&gt;Anesthetic-induced malignant hyperthermia in children.&lt;/strong&gt; J. Pediat. 83: 37-40, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4149045/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4149045&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(73)80309-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4149045">King and Denborough (1973)</a> described 4 unrelated boys with a slowly progressive myopathy, as well as ptosis, short stature, low-set ears, malar hypoplasia, skeletal deformities, and cryptorchidism. All had been identified following episodes of malignant hyperthermia in which 3 of the boys died. Intelligence was normal in all 4. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4109748+4149045" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Pinsky, L. &lt;strong&gt;The XX-XY Turner phenotype and malignant hyperthermia. (Letter)&lt;/strong&gt; Lancet 300: 383 only, 1972. Note: Originally Volume II.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4114756/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4114756&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(72)91773-4&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4114756">Pinsky (1972)</a> and <a href="#7" class="mim-tip-reference" title="Kaplan, A. M., Bergeson, P. S., Gregg, S. A., Cruless, R. G. &lt;strong&gt;Malignant hyperthermia associated with myopathy and normal muscle enzymes.&lt;/strong&gt; J. Pediat. 91: 431-434, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/894412/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;894412&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(77)81314-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="894412">Kaplan et al. (1977)</a> noted that the dysmorphic features of persons with King syndrome and malignant hyperpyrexia resembled those observed in Noonan syndrome (see <a href="/entry/163950">163950</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4114756+894412" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="McPherson, E. W., Taylor, C. A., Jr. &lt;strong&gt;The King syndrome: malignant hyperthermia, myopathy, and multiple anomalies.&lt;/strong&gt; Am. J. Med. Genet. 8: 159-165, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7282770/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7282770&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320080206&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7282770">McPherson and Taylor (1981)</a> reported a case of King syndrome in a girl and noted that all earlier cases had been in males. <a href="#12" class="mim-tip-reference" title="Saul, R. A., Stevenson, R. E., Roberts, T. L. &lt;strong&gt;A female with the King syndrome in a family with elevated CPK levels.&lt;/strong&gt; Proc. Greenwood Genet. Center 3: 7-10, 1984."None>Saul et al. (1984)</a> reported an affected female. <a href="#13" class="mim-tip-reference" title="Steenson, A. J., Torkelson, R. D. &lt;strong&gt;King&#x27;s syndrome with malignant hyperthermia: potential outpatient risks.&lt;/strong&gt; Am. J. Dis. Child. 141: 271-273, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3812408/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3812408&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archpedi.1987.04460030049022&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3812408">Steenson and Torkelson (1987)</a> reported a patient with King syndrome in whom there was no pectus carinatum or cryptorchidism; the patient had mental retardation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3812408+7282770" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Isaacs, H., Badenhorst, M. E. &lt;strong&gt;Dominantly inherited malignant hyperthermia (MH) in the King-Denborough syndrome.&lt;/strong&gt; Muscle Nerve 15: 740-742, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1508238/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1508238&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/mus.880150619&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1508238">Isaacs and Badenhorst (1992)</a> described King-Denborough syndrome in a white male teenager who from birth had been noted to have low-set ears, high-arched palate, undescended testes, and bilateral pes cavus. The patient reportedly had unexplained high fever in the immediate postoperative period after surgery for undescended testes and pes cavus. During tonsillectomy at age 14 years, the patient had a hyperthermic crisis. Physical examination at that time showed pectus deformity, kyphoscoliosis, downslanting palpebral fissures, long upper lip, protuberant nose, and decreased IQ. Serum creatine kinase was increased, and muscle biopsy showed a variation in fiber size and some de- and regenerating fibers. Muscle tension studies confirmed increased susceptibility to malignant hyperthermia. The patient's mother also had increased serum creatine kinase, high-arched feet, and a positive muscle tension test. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1508238" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Chitayat, D., Hodgkinson, K. A., Ginsburg, O., Dimmick, J., Watters, G. V. &lt;strong&gt;King syndrome: a genetically heterogenous phenotype due to congenital myopathies.&lt;/strong&gt; Am. J. Med. Genet. 43: 954-956, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1415346/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1415346&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430610&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1415346">Chitayat et al. (1992)</a> described an isolated case in a 9-year-old boy who had, in addition to the usual features of King syndrome, dilatation of the cardiac ventricles, aorta, and pulmonary artery. Although he was thought to have a congenital myopathy and had transient increase in creatine kinase levels during anesthesia, malignant hyperthermia did not occur. <a href="#1" class="mim-tip-reference" title="Chitayat, D., Hodgkinson, K. A., Ginsburg, O., Dimmick, J., Watters, G. V. &lt;strong&gt;King syndrome: a genetically heterogenous phenotype due to congenital myopathies.&lt;/strong&gt; Am. J. Med. Genet. 43: 954-956, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1415346/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1415346&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430610&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1415346">Chitayat et al. (1992)</a> concluded that the manifestations of the King syndrome can result from different congenital myopathies and that in all cases there is probably an increased risk of malignant hyperthermia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1415346" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Graham, G. E., Silver, K., Arlet, V., Der Kaloustian, V. M. &lt;strong&gt;King syndrome: further clinical variability and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 78: 254-259, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9677061/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9677061&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19980707)78:3&lt;254::aid-ajmg9&gt;3.0.co;2-p&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9677061">Graham et al. (1998)</a> reviewed the cases of 14 previously reported patients and described a new patient, a 7-year-old girl, with the King syndrome and the unique findings of diaphragmatic eventration, tethered spinal cord, and severe paucity of type 2 skeletal muscle fibers. They suggested that King syndrome represents a phenotype that is common to several different slowly progressive congenital myopathies. <a href="#4" class="mim-tip-reference" title="Graham, G. E., Silver, K., Arlet, V., Der Kaloustian, V. M. &lt;strong&gt;King syndrome: further clinical variability and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 78: 254-259, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9677061/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9677061&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19980707)78:3&lt;254::aid-ajmg9&gt;3.0.co;2-p&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9677061">Graham et al. (1998)</a> commented that although there is considerable overlap with the Noonan syndrome, no King syndrome patient had been reported with the Noonan combination of hypertelorism, epicanthic folds, lymphedema, bleeding diathesis, and characteristic heart defects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9677061" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="D&#x27;Arcy, C. E., Bjorksten, A., Yiu, E. M., Bankier, A., Gillies, R., McLean, C. A., Shield, L. K., Ryan, M. M. &lt;strong&gt;King-Denborough syndrome caused by a novel mutation in the ryanodine receptor gene.&lt;/strong&gt; Neurology 71: 776-777, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18765655/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18765655&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000324929.33780.2f&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18765655">D'Arcy et al. (2008)</a> reported a 27-year-old woman with King-Denborough syndrome and susceptibility to malignant hyperthermia. She was born at term after a pregnancy complicated by decreased fetal movements and breech presentation. At birth, she was noted to have hypotonia, ptosis, high-arched palate, prominent philtrum, and scaphocephaly. The father and paternal grandfather had congenital ptosis, but no other signs of neuromuscular disease. She underwent surgery for ptosis at ages 2 and 9 years without complications. Facial and proximal limb weakness became more apparent with age, and she developed kyphoscoliosis, myopathic facies with flat midface, prominent columella, and webbed neck. An EMG was myopathic and serum creatine kinase was increased. At age 15 years, she developed hyperthermia during surgery for scoliosis repair, and subsequent muscle testing confirmed susceptibility to malignant hyperthermia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18765655" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Dowling, J. J., Lillis S., Amburgey, K., Zhou, H., Al-Sarraj, S., Buk, S. J. A., Wraige, E., Chow, G., Abbs, S., Leber, S., Lachlan, K., Baralle, D., Taylor, A., Sewry, C., Muntoni, F., Jungbluth, H. &lt;strong&gt;King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.&lt;/strong&gt; Neuromusc. Disord. 21: 420-427, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21514828/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21514828&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2011.03.006&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21514828">Dowling et al. (2011)</a> reported a patient (patient 1) who presented at 5 years of age with unusual gait, frequent falls, exercise intolerance, myalgia after exercise, and delayed walking. On examination at age 6 years, he had mild ptosis, hypertelorism, webbing of the neck, and a round face with full cheeks. He also had mild truncal hypotonia, mild upper and lower proximal weakness, and an abnormal gait with lumbar lordosis. Laboratory testing showed a mild elevation of creatine phosphokinase (CPK), and spinal x-rays demonstrated thoracolumbar scoliosis and lordosis. <a href="#3" class="mim-tip-reference" title="Dowling, J. J., Lillis S., Amburgey, K., Zhou, H., Al-Sarraj, S., Buk, S. J. A., Wraige, E., Chow, G., Abbs, S., Leber, S., Lachlan, K., Baralle, D., Taylor, A., Sewry, C., Muntoni, F., Jungbluth, H. &lt;strong&gt;King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.&lt;/strong&gt; Neuromusc. Disord. 21: 420-427, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21514828/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21514828&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2011.03.006&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21514828">Dowling et al. (2011)</a> reported another patient (patient 2) who presented at 14 years of age with scoliosis, recurrent patellar dislocations, and mild hip girdle weakness. On examination, he had mild ptosis and a myopathic facial appearance. Muscle biopsy showed increased variability in fiber size and peripheral and central cores. Laboratory testing showed a mild elevation of CPK. His older brother had a history of elevated CPK and an anesthesia reaction suggestive of malignant hyperthermia. His mother also had a history of patellar dislocations, malignant hyperthermia, mild hip girdle weakness, and mild ptosis. Muscle biopsy showed features of a core myopathy, and an in vitro contracture test confirmed malignant hyperthermia susceptibility. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21514828" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Joseph, M. R., Theroux, M. C., Mooney, J. J., Falitz, S., Brandom, B. W., Byler, D. L. &lt;strong&gt;Intraoperative presentation of malignant hyperthermia (confirmed by RYR1 gene mutation, c.7522C-T; p.R2508C) leads to diagnosis of King-Denborough syndrome in a child with hypotonia and dysmorphic features: a case report.&lt;/strong&gt; A. A. Case Rep. 8: 55-57, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/27918309/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;27918309&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1213/XAA.0000000000000421&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="27918309">Joseph et al. (2017)</a> reported a 2-year-old boy with a history of bilaterally undescended testicles, hypotonia, ptosis, ventricular septal defect, and delayed walking. He had an episode of malignant hyperthermia treated with dantrolene during orchiopexy surgery. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27918309" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of KDS in the families reported by <a href="#3" class="mim-tip-reference" title="Dowling, J. J., Lillis S., Amburgey, K., Zhou, H., Al-Sarraj, S., Buk, S. J. A., Wraige, E., Chow, G., Abbs, S., Leber, S., Lachlan, K., Baralle, D., Taylor, A., Sewry, C., Muntoni, F., Jungbluth, H. &lt;strong&gt;King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.&lt;/strong&gt; Neuromusc. Disord. 21: 420-427, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21514828/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21514828&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2011.03.006&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21514828">Dowling et al. (2011)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21514828" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p>In a 27-year-old woman with King-Denborough syndrome, <a href="#2" class="mim-tip-reference" title="D&#x27;Arcy, C. E., Bjorksten, A., Yiu, E. M., Bankier, A., Gillies, R., McLean, C. A., Shield, L. K., Ryan, M. M. &lt;strong&gt;King-Denborough syndrome caused by a novel mutation in the ryanodine receptor gene.&lt;/strong&gt; Neurology 71: 776-777, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18765655/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18765655&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000324929.33780.2f&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18765655">D'Arcy et al. (2008)</a> identified a heterozygous missense mutation in the RYR1 gene (K33E; <a href="/entry/180901#0038">180901.0038</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18765655" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By direct RYR1 sequencing, <a href="#3" class="mim-tip-reference" title="Dowling, J. J., Lillis S., Amburgey, K., Zhou, H., Al-Sarraj, S., Buk, S. J. A., Wraige, E., Chow, G., Abbs, S., Leber, S., Lachlan, K., Baralle, D., Taylor, A., Sewry, C., Muntoni, F., Jungbluth, H. &lt;strong&gt;King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.&lt;/strong&gt; Neuromusc. Disord. 21: 420-427, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21514828/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21514828&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2011.03.006&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21514828">Dowling et al. (2011)</a> identified heterozygous missense mutations in 4 patients with KDS, a 6-year-old boy (T2203M; <a href="/entry/180901#0014">180901.0014</a>) and 3 members of 1 family (R2452W; <a href="/entry/180901#0042">180901.0042</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21514828" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 2-year-old boy with KDS, <a href="#6" class="mim-tip-reference" title="Joseph, M. R., Theroux, M. C., Mooney, J. J., Falitz, S., Brandom, B. W., Byler, D. L. &lt;strong&gt;Intraoperative presentation of malignant hyperthermia (confirmed by RYR1 gene mutation, c.7522C-T; p.R2508C) leads to diagnosis of King-Denborough syndrome in a child with hypotonia and dysmorphic features: a case report.&lt;/strong&gt; A. A. Case Rep. 8: 55-57, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/27918309/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;27918309&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1213/XAA.0000000000000421&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="27918309">Joseph et al. (2017)</a> identified a heterozygous missense mutation in the RYR1 gene (<a href="/entry/180901#0043">180901.0043</a>). Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27918309" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="references"class="mim-anchor"></a>
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<strong>REFERENCES</strong>
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<a id="1" class="mim-anchor"></a>
<a id="Chitayat1992" class="mim-anchor"></a>
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Chitayat, D., Hodgkinson, K. A., Ginsburg, O., Dimmick, J., Watters, G. V.
<strong>King syndrome: a genetically heterogenous phenotype due to congenital myopathies.</strong>
Am. J. Med. Genet. 43: 954-956, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1415346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1415346</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1415346" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320430610" target="_blank">Full Text</a>]
</p>
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</li>
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<a id="2" class="mim-anchor"></a>
<a id="D&#x27;Arcy2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
D'Arcy, C. E., Bjorksten, A., Yiu, E. M., Bankier, A., Gillies, R., McLean, C. A., Shield, L. K., Ryan, M. M.
<strong>King-Denborough syndrome caused by a novel mutation in the ryanodine receptor gene.</strong>
Neurology 71: 776-777, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18765655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18765655</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18765655" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/01.wnl.0000324929.33780.2f" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
<a id="Dowling2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dowling, J. J., Lillis S., Amburgey, K., Zhou, H., Al-Sarraj, S., Buk, S. J. A., Wraige, E., Chow, G., Abbs, S., Leber, S., Lachlan, K., Baralle, D., Taylor, A., Sewry, C., Muntoni, F., Jungbluth, H.
<strong>King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.</strong>
Neuromusc. Disord. 21: 420-427, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21514828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21514828</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21514828" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.nmd.2011.03.006" target="_blank">Full Text</a>]
</p>
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<a id="4" class="mim-anchor"></a>
<a id="Graham1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Graham, G. E., Silver, K., Arlet, V., Der Kaloustian, V. M.
<strong>King syndrome: further clinical variability and review of the literature.</strong>
Am. J. Med. Genet. 78: 254-259, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9677061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9677061</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9677061" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1096-8628(19980707)78:3&lt;254::aid-ajmg9&gt;3.0.co;2-p" target="_blank">Full Text</a>]
</p>
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<a id="5" class="mim-anchor"></a>
<a id="Isaacs1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Isaacs, H., Badenhorst, M. E.
<strong>Dominantly inherited malignant hyperthermia (MH) in the King-Denborough syndrome.</strong>
Muscle Nerve 15: 740-742, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1508238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1508238</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1508238" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/mus.880150619" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Joseph2017" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Joseph, M. R., Theroux, M. C., Mooney, J. J., Falitz, S., Brandom, B. W., Byler, D. L.
<strong>Intraoperative presentation of malignant hyperthermia (confirmed by RYR1 gene mutation, c.7522C-T; p.R2508C) leads to diagnosis of King-Denborough syndrome in a child with hypotonia and dysmorphic features: a case report.</strong>
A. A. Case Rep. 8: 55-57, 2017.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27918309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27918309</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27918309" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1213/XAA.0000000000000421" target="_blank">Full Text</a>]
</p>
</div>
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<a id="7" class="mim-anchor"></a>
<a id="Kaplan1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kaplan, A. M., Bergeson, P. S., Gregg, S. A., Cruless, R. G.
<strong>Malignant hyperthermia associated with myopathy and normal muscle enzymes.</strong>
J. Pediat. 91: 431-434, 1977.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/894412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">894412</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=894412" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(77)81314-0" target="_blank">Full Text</a>]
</p>
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</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="King1972" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
King, J. O., Denborough, M. A., Zapf, P. W.
<strong>Inheritance of malignant hyperpyrexia.</strong>
Lancet 299: 365-370, 1972. Note: Originally Volume I.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4109748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4109748</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4109748" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0140-6736(72)92854-1" target="_blank">Full Text</a>]
</p>
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<a id="9" class="mim-anchor"></a>
<a id="King1973" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
King, J. O., Denborough, M. A.
<strong>Anesthetic-induced malignant hyperthermia in children.</strong>
J. Pediat. 83: 37-40, 1973.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4149045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4149045</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4149045" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(73)80309-9" target="_blank">Full Text</a>]
</p>
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<a id="10" class="mim-anchor"></a>
<a id="McPherson1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
McPherson, E. W., Taylor, C. A., Jr.
<strong>The King syndrome: malignant hyperthermia, myopathy, and multiple anomalies.</strong>
Am. J. Med. Genet. 8: 159-165, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7282770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7282770</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7282770" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320080206" target="_blank">Full Text</a>]
</p>
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<a id="11" class="mim-anchor"></a>
<a id="Pinsky1972" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pinsky, L.
<strong>The XX-XY Turner phenotype and malignant hyperthermia. (Letter)</strong>
Lancet 300: 383 only, 1972. Note: Originally Volume II.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4114756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4114756</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4114756" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0140-6736(72)91773-4" target="_blank">Full Text</a>]
</p>
</div>
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<a id="12" class="mim-anchor"></a>
<a id="Saul1984" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Saul, R. A., Stevenson, R. E., Roberts, T. L.
<strong>A female with the King syndrome in a family with elevated CPK levels.</strong>
Proc. Greenwood Genet. Center 3: 7-10, 1984.
</p>
</div>
</li>
<li>
<a id="13" class="mim-anchor"></a>
<a id="Steenson1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Steenson, A. J., Torkelson, R. D.
<strong>King's syndrome with malignant hyperthermia: potential outpatient risks.</strong>
Am. J. Dis. Child. 141: 271-273, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3812408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3812408</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3812408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archpedi.1987.04460030049022" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 10/11/2021
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<h3>
<span class="mim-font">
<strong>#</strong> 619542
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<span class="mim-font">
KING-DENBOROUGH SYNDROME; KDS
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<span class="mim-font">
<em>Alternative titles; symbols</em>
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<span class="mim-font">
KING SYNDROME
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<strong>SNOMEDCT:</strong> 764957003; &nbsp;
<strong>ORPHA:</strong> 99741; &nbsp;
<strong>DO:</strong> 0080990; &nbsp;
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<h4>
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<td>
<span class="mim-font">
19q13.2
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<span class="mim-font">
King-Denborough syndrome
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619542
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Autosomal dominant
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3
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RYR1
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180901
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<span class="mim-font">
<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that King-Denborough syndrome (KDS) is caused by heterozygous mutation in the RYR1 gene (180901) on chromosome 19q13.</p>
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<strong>Description</strong>
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<p>King-Denborough syndrome (KDS) is an autosomal dominant disorder characterized by the triad of congenital myopathy, dysmorphic features, and susceptibility to malignant hyperthermia (summary by Dowling et al., 2011). </p>
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<strong>Clinical Features</strong>
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<p>King et al. (1972) reported a group of patients with myopathy and malignant hyperpyrexia (MH; 145600) who also had physical abnormalities, including short stature, cryptorchidism, pectus carinatum, lumbar lordosis, thoracic kyphosis, and unusual facies. They noted that this form of MH, termed King syndrome, was likely to come to attention during corrective surgery. King and Denborough (1973) described 4 unrelated boys with a slowly progressive myopathy, as well as ptosis, short stature, low-set ears, malar hypoplasia, skeletal deformities, and cryptorchidism. All had been identified following episodes of malignant hyperthermia in which 3 of the boys died. Intelligence was normal in all 4. </p><p>Pinsky (1972) and Kaplan et al. (1977) noted that the dysmorphic features of persons with King syndrome and malignant hyperpyrexia resembled those observed in Noonan syndrome (see 163950). </p><p>McPherson and Taylor (1981) reported a case of King syndrome in a girl and noted that all earlier cases had been in males. Saul et al. (1984) reported an affected female. Steenson and Torkelson (1987) reported a patient with King syndrome in whom there was no pectus carinatum or cryptorchidism; the patient had mental retardation. </p><p>Isaacs and Badenhorst (1992) described King-Denborough syndrome in a white male teenager who from birth had been noted to have low-set ears, high-arched palate, undescended testes, and bilateral pes cavus. The patient reportedly had unexplained high fever in the immediate postoperative period after surgery for undescended testes and pes cavus. During tonsillectomy at age 14 years, the patient had a hyperthermic crisis. Physical examination at that time showed pectus deformity, kyphoscoliosis, downslanting palpebral fissures, long upper lip, protuberant nose, and decreased IQ. Serum creatine kinase was increased, and muscle biopsy showed a variation in fiber size and some de- and regenerating fibers. Muscle tension studies confirmed increased susceptibility to malignant hyperthermia. The patient's mother also had increased serum creatine kinase, high-arched feet, and a positive muscle tension test. </p><p>Chitayat et al. (1992) described an isolated case in a 9-year-old boy who had, in addition to the usual features of King syndrome, dilatation of the cardiac ventricles, aorta, and pulmonary artery. Although he was thought to have a congenital myopathy and had transient increase in creatine kinase levels during anesthesia, malignant hyperthermia did not occur. Chitayat et al. (1992) concluded that the manifestations of the King syndrome can result from different congenital myopathies and that in all cases there is probably an increased risk of malignant hyperthermia. </p><p>Graham et al. (1998) reviewed the cases of 14 previously reported patients and described a new patient, a 7-year-old girl, with the King syndrome and the unique findings of diaphragmatic eventration, tethered spinal cord, and severe paucity of type 2 skeletal muscle fibers. They suggested that King syndrome represents a phenotype that is common to several different slowly progressive congenital myopathies. Graham et al. (1998) commented that although there is considerable overlap with the Noonan syndrome, no King syndrome patient had been reported with the Noonan combination of hypertelorism, epicanthic folds, lymphedema, bleeding diathesis, and characteristic heart defects. </p><p>D'Arcy et al. (2008) reported a 27-year-old woman with King-Denborough syndrome and susceptibility to malignant hyperthermia. She was born at term after a pregnancy complicated by decreased fetal movements and breech presentation. At birth, she was noted to have hypotonia, ptosis, high-arched palate, prominent philtrum, and scaphocephaly. The father and paternal grandfather had congenital ptosis, but no other signs of neuromuscular disease. She underwent surgery for ptosis at ages 2 and 9 years without complications. Facial and proximal limb weakness became more apparent with age, and she developed kyphoscoliosis, myopathic facies with flat midface, prominent columella, and webbed neck. An EMG was myopathic and serum creatine kinase was increased. At age 15 years, she developed hyperthermia during surgery for scoliosis repair, and subsequent muscle testing confirmed susceptibility to malignant hyperthermia. </p><p>Dowling et al. (2011) reported a patient (patient 1) who presented at 5 years of age with unusual gait, frequent falls, exercise intolerance, myalgia after exercise, and delayed walking. On examination at age 6 years, he had mild ptosis, hypertelorism, webbing of the neck, and a round face with full cheeks. He also had mild truncal hypotonia, mild upper and lower proximal weakness, and an abnormal gait with lumbar lordosis. Laboratory testing showed a mild elevation of creatine phosphokinase (CPK), and spinal x-rays demonstrated thoracolumbar scoliosis and lordosis. Dowling et al. (2011) reported another patient (patient 2) who presented at 14 years of age with scoliosis, recurrent patellar dislocations, and mild hip girdle weakness. On examination, he had mild ptosis and a myopathic facial appearance. Muscle biopsy showed increased variability in fiber size and peripheral and central cores. Laboratory testing showed a mild elevation of CPK. His older brother had a history of elevated CPK and an anesthesia reaction suggestive of malignant hyperthermia. His mother also had a history of patellar dislocations, malignant hyperthermia, mild hip girdle weakness, and mild ptosis. Muscle biopsy showed features of a core myopathy, and an in vitro contracture test confirmed malignant hyperthermia susceptibility. </p><p>Joseph et al. (2017) reported a 2-year-old boy with a history of bilaterally undescended testicles, hypotonia, ptosis, ventricular septal defect, and delayed walking. He had an episode of malignant hyperthermia treated with dantrolene during orchiopexy surgery. </p>
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<h4>
<span class="mim-font">
<strong>Inheritance</strong>
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</h4>
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<span class="mim-text-font">
<p>The transmission pattern of KDS in the families reported by Dowling et al. (2011) was consistent with autosomal dominant inheritance. </p>
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<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
<p>In a 27-year-old woman with King-Denborough syndrome, D'Arcy et al. (2008) identified a heterozygous missense mutation in the RYR1 gene (K33E; 180901.0038). </p><p>By direct RYR1 sequencing, Dowling et al. (2011) identified heterozygous missense mutations in 4 patients with KDS, a 6-year-old boy (T2203M; 180901.0014) and 3 members of 1 family (R2452W; 180901.0042). </p><p>In a 2-year-old boy with KDS, Joseph et al. (2017) identified a heterozygous missense mutation in the RYR1 gene (180901.0043). Functional studies were not performed. </p>
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
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<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Chitayat, D., Hodgkinson, K. A., Ginsburg, O., Dimmick, J., Watters, G. V.
<strong>King syndrome: a genetically heterogenous phenotype due to congenital myopathies.</strong>
Am. J. Med. Genet. 43: 954-956, 1992.
[PubMed: 1415346]
[Full Text: https://doi.org/10.1002/ajmg.1320430610]
</p>
</li>
<li>
<p class="mim-text-font">
D'Arcy, C. E., Bjorksten, A., Yiu, E. M., Bankier, A., Gillies, R., McLean, C. A., Shield, L. K., Ryan, M. M.
<strong>King-Denborough syndrome caused by a novel mutation in the ryanodine receptor gene.</strong>
Neurology 71: 776-777, 2008.
[PubMed: 18765655]
[Full Text: https://doi.org/10.1212/01.wnl.0000324929.33780.2f]
</p>
</li>
<li>
<p class="mim-text-font">
Dowling, J. J., Lillis S., Amburgey, K., Zhou, H., Al-Sarraj, S., Buk, S. J. A., Wraige, E., Chow, G., Abbs, S., Leber, S., Lachlan, K., Baralle, D., Taylor, A., Sewry, C., Muntoni, F., Jungbluth, H.
<strong>King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.</strong>
Neuromusc. Disord. 21: 420-427, 2011.
[PubMed: 21514828]
[Full Text: https://doi.org/10.1016/j.nmd.2011.03.006]
</p>
</li>
<li>
<p class="mim-text-font">
Graham, G. E., Silver, K., Arlet, V., Der Kaloustian, V. M.
<strong>King syndrome: further clinical variability and review of the literature.</strong>
Am. J. Med. Genet. 78: 254-259, 1998.
[PubMed: 9677061]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19980707)78:3&lt;254::aid-ajmg9&gt;3.0.co;2-p]
</p>
</li>
<li>
<p class="mim-text-font">
Isaacs, H., Badenhorst, M. E.
<strong>Dominantly inherited malignant hyperthermia (MH) in the King-Denborough syndrome.</strong>
Muscle Nerve 15: 740-742, 1992.
[PubMed: 1508238]
[Full Text: https://doi.org/10.1002/mus.880150619]
</p>
</li>
<li>
<p class="mim-text-font">
Joseph, M. R., Theroux, M. C., Mooney, J. J., Falitz, S., Brandom, B. W., Byler, D. L.
<strong>Intraoperative presentation of malignant hyperthermia (confirmed by RYR1 gene mutation, c.7522C-T; p.R2508C) leads to diagnosis of King-Denborough syndrome in a child with hypotonia and dysmorphic features: a case report.</strong>
A. A. Case Rep. 8: 55-57, 2017.
[PubMed: 27918309]
[Full Text: https://doi.org/10.1213/XAA.0000000000000421]
</p>
</li>
<li>
<p class="mim-text-font">
Kaplan, A. M., Bergeson, P. S., Gregg, S. A., Cruless, R. G.
<strong>Malignant hyperthermia associated with myopathy and normal muscle enzymes.</strong>
J. Pediat. 91: 431-434, 1977.
[PubMed: 894412]
[Full Text: https://doi.org/10.1016/s0022-3476(77)81314-0]
</p>
</li>
<li>
<p class="mim-text-font">
King, J. O., Denborough, M. A., Zapf, P. W.
<strong>Inheritance of malignant hyperpyrexia.</strong>
Lancet 299: 365-370, 1972. Note: Originally Volume I.
[PubMed: 4109748]
[Full Text: https://doi.org/10.1016/s0140-6736(72)92854-1]
</p>
</li>
<li>
<p class="mim-text-font">
King, J. O., Denborough, M. A.
<strong>Anesthetic-induced malignant hyperthermia in children.</strong>
J. Pediat. 83: 37-40, 1973.
[PubMed: 4149045]
[Full Text: https://doi.org/10.1016/s0022-3476(73)80309-9]
</p>
</li>
<li>
<p class="mim-text-font">
McPherson, E. W., Taylor, C. A., Jr.
<strong>The King syndrome: malignant hyperthermia, myopathy, and multiple anomalies.</strong>
Am. J. Med. Genet. 8: 159-165, 1981.
[PubMed: 7282770]
[Full Text: https://doi.org/10.1002/ajmg.1320080206]
</p>
</li>
<li>
<p class="mim-text-font">
Pinsky, L.
<strong>The XX-XY Turner phenotype and malignant hyperthermia. (Letter)</strong>
Lancet 300: 383 only, 1972. Note: Originally Volume II.
[PubMed: 4114756]
[Full Text: https://doi.org/10.1016/s0140-6736(72)91773-4]
</p>
</li>
<li>
<p class="mim-text-font">
Saul, R. A., Stevenson, R. E., Roberts, T. L.
<strong>A female with the King syndrome in a family with elevated CPK levels.</strong>
Proc. Greenwood Genet. Center 3: 7-10, 1984.
</p>
</li>
<li>
<p class="mim-text-font">
Steenson, A. J., Torkelson, R. D.
<strong>King&#x27;s syndrome with malignant hyperthermia: potential outpatient risks.</strong>
Am. J. Dis. Child. 141: 271-273, 1987.
[PubMed: 3812408]
[Full Text: https://doi.org/10.1001/archpedi.1987.04460030049022]
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