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Entry
- #148820 - WAARDENBURG SYNDROME, TYPE 3; WS3
- OMIM
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<span class="h4">#148820</span>
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<strong>Table of Contents</strong>
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<li role="presentation">
<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
<a href="/clinicalSynopsis/148820"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS193500"> <strong>Phenotypic Series</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" style="margin-left: 1em">
<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#cytogenetics">Cytogenetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<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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<div><a href="https://www.alliancegenome.org/disease/DOID:0110949" 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>
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<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.">
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<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> 237918004<br />
<strong>ORPHA:</strong> 3440, 896<br />
<strong>DO:</strong> 0110949<br />
">ICD+</a>
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<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
148820
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<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
WAARDENBURG SYNDROME, TYPE 3; WS3
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
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<h4>
<span class="mim-font">
WAARDENBURG SYNDROME WITH UPPER LIMB ANOMALIES<br />
WAARDENBURG SYNDROME, TYPE III<br />
KLEIN-WAARDENBURG SYNDROME
</span>
</h4>
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<br />
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<h4>
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<strong>Phenotype-Gene Relationships</strong>
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<thead>
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<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/2/1053?start=-3&limit=10&highlight=1053">
2q36.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Waardenburg syndrome, type 3
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/148820"> 148820 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
PAX3
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606597"> 606597 </a>
</span>
</td>
</tr>
</tbody>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/148820" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<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>
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<p />
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<div class="small" style="margin: 5px">
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<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 /> -
Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</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">
- Prognathism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72855002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72855002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109504005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109504005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22810007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22810007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.213</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0399526&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0399526</a>, <a href="https://bioportal.bioontology.org/search?q=C0033324&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033324</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2aaef6d7371d3478c5adcef40ea1e36f" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Prognathism-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=2aaef6d7371d3478c5adcef40ea1e36f&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> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Sensorineural deafness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><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">
- Dystopia canthorum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246803005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246803005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/726407000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">726407000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423113&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423113</a>, <a href="https://bioportal.bioontology.org/search?q=C4316813&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4316813</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000506" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000506</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000506" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000506</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=d87370f552af271a3bb27b2e061542cb" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Telecanthus-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=d87370f552af271a3bb27b2e061542cb&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 /> -
Blepharophimosis <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.46" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.46</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005744&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005744</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000581</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000581</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0f0375071b81e81be36302aa011b44dc" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Blepharophimosis-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0f0375071b81e81be36302aa011b44dc&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 /> -
Synophrys <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253207002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253207002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431447&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431447</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000664" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000664</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000664" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000664</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=d88a284723f3407bf387ee65da76603e" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Synophrys-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=d88a284723f3407bf387ee65da76603e&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 /> -
Heterochromia iridis (complete or partial) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860351&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860351</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247033008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247033008</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001100</a>]</span><br /> -
Hypopigmented iris <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750634&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750634</a>]</span><br /> -
Bright blue eyes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749908&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749908</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Prominent nasal root <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854113&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854113</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000426" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000426</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000426" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000426</a>]</span><br /> -
Hypoplastic alae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834055&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834055</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000430" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000430</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>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Contractures of the upper limb joints <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100360" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100360</a>]</span><br /> -
Hypoplasia of the bones of the upper limbs and wrists <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750636</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Syndactyly, cutaneous <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861921&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861921</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012725</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012725</a>]</span><br /> -
Finger contractures <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1411006&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1411006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001220" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001220</a>]</span><br /> -
Hypoplasia of the hand muscles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750637&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750637</a>]</span><br /> -
Clinodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17268007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17268007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551485</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Clinodactyly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3&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 /> -
Brachydactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43476002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43476002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221357&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221357</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Syndactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/373413006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">373413006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2117411&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2117411</a>, <a href="https://bioportal.bioontology.org/search?q=C0039075&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039075</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Foot,Osseous_Syndactyly_of-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12&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>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Congenital partial albinism (leukoderma) on face, trunk, or limbs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6479008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6479008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5848166&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848166</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007443" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007443</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007443" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007443</a>]</span><br /> -
Hypopigmented skin patches <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836735&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836735</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001053" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001053</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001053" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001053</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- White forelock <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247564004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247564004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L67.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L67.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344312&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344312</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002211" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002211</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002211" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002211</a>]</span><br /> -
Premature graying of the hair <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/387833009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">387833009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L67.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L67.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263498&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263498</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002216" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002216</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002216" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002216</a>]</span><br />
</span>
</div>
</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">
- Mental retardation (reported in 1 patient) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
Spasticity (reported in 1 patient) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/221360009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">221360009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397790002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397790002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026838</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
Both heterozygous and homozygous PAX3 mutations have been found<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the paired box gene 3 (PAX3, <a href="/entry/606597#0009">606597.0009</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Waardenburg syndrome
- <a href="/phenotypicSeries/PS193500">PS193500</a>
- 10 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/817?start=-3&limit=10&highlight=817"> 1p21-p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600193"> Waardenburg syndrome, type 2B </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600193"> 600193 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600193"> WS2B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600193"> 600193 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1053?start=-3&limit=10&highlight=1053"> 2q36.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/148820"> Waardenburg syndrome, type 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
<a href="/entry/148820"> 148820 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606597"> PAX3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606597"> 606597 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1053?start=-3&limit=10&highlight=1053"> 2q36.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/193500"> Waardenburg syndrome, type 1 </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">
<a href="/entry/193500"> 193500 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606597"> PAX3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606597"> 606597 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/454?start=-3&limit=10&highlight=454"> 3p13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/193510"> Waardenburg syndrome, type 2A </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">
<a href="/entry/193510"> 193510 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/156845"> MITF </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/156845"> 156845 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/5?start=-3&limit=10&highlight=5"> 8p23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606662"> Waardenburg syndrome, type 2C </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606662"> 606662 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606662"> WS2C </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606662"> 606662 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/666?start=-3&limit=10&highlight=666"> 12q21.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619947"> Waardenburg syndrome, type 2F </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
<a href="/entry/619947"> 619947 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/184745"> KITLG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/184745"> 184745 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/13/236?start=-3&limit=10&highlight=236"> 13q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/277580"> Waardenburg syndrome, type 4A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
<a href="/entry/277580"> 277580 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/131244"> EDNRB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/131244"> 131244 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/432?start=-3&limit=10&highlight=432"> 20q13.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613265"> Waardenburg syndrome, type 4B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
<a href="/entry/613265"> 613265 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/131242"> EDN3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/131242"> 131242 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/264?start=-3&limit=10&highlight=264"> 22q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611584"> Waardenburg syndrome, type 2E, with or without neurologic involvement </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">
<a href="/entry/611584"> 611584 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602229"> SOX10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602229"> 602229 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/264?start=-3&limit=10&highlight=264"> 22q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613266"> Waardenburg syndrome, type 4C </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">
<a href="/entry/613266"> 613266 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602229"> SOX10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602229"> 602229 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<br />
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<a id="text" class="mim-anchor"></a>
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Waardenburg syndrome type 3 (WS3) is caused by heterozygous or homozygous mutation in the PAX3 gene (<a href="/entry/606597">606597</a>) on chromosome 2q36.</p><p>Waardenburg syndrome type 1 (WS1; <a href="/entry/193500">193500</a>) is also caused by heterozygous mutation in the PAX3 gene.</p>
</span>
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<br />
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<a id="description" class="mim-anchor"></a>
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
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<p>Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by <a href="#16" class="mim-tip-reference" title="Read, A. P., Newton, V. E. &lt;strong&gt;Waardenburg syndrome.&lt;/strong&gt; J. Med. Genet. 34: 656-665, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9279758/&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;9279758&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.34.8.656&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="9279758">Read and Newton, 1997</a> and <a href="#15" class="mim-tip-reference" title="Pingault, V., Ente, D., Dastot-Le Moal, F., Goossens, M., Marlin, S., Bondurand, N. &lt;strong&gt;Review and update of mutations causing Waardenburg syndrome.&lt;/strong&gt; Hum. Mutat. 31: 391-406, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20127975/&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;20127975&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.21211&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="20127975">Pingault et al., 2010</a>). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (<a href="#5" class="mim-tip-reference" title="Gorlin, R. J., Pindborg, J., Cohen, M. M., Jr. &lt;strong&gt;Syndromes of the Head and Neck. (2nd ed.)&lt;/strong&gt; New York: McGraw-Hill (pub.) 1976."None>Gorlin et al., 1976</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9279758+20127975" 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><strong><em>Clinical Variability of Waardenburg Syndrome Types 1-4</em></strong></p><p>
Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1; <a href="/entry/193500">193500</a>) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4; <a href="/entry/277580">277580</a>), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by <a href="#16" class="mim-tip-reference" title="Read, A. P., Newton, V. E. &lt;strong&gt;Waardenburg syndrome.&lt;/strong&gt; J. Med. Genet. 34: 656-665, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9279758/&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;9279758&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.34.8.656&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="9279758">Read and Newton, 1997</a> and <a href="#15" class="mim-tip-reference" title="Pingault, V., Ente, D., Dastot-Le Moal, F., Goossens, M., Marlin, S., Bondurand, N. &lt;strong&gt;Review and update of mutations causing Waardenburg syndrome.&lt;/strong&gt; Hum. Mutat. 31: 391-406, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20127975/&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;20127975&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.21211&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="20127975">Pingault et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9279758+20127975" 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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<p><a href="#7" class="mim-tip-reference" title="Klein, D. &lt;strong&gt;Albinisme partiel (leucisme) avec surdi-mutite, blepharophimosis et dysplasie myo-osteo-articulaire.&lt;/strong&gt; Helv. Paediat. Acta 5: 38-58, 1950."None>Klein (1950)</a> first reported the association of limb anomalies with what has come to be recognized as the hallmarks of Waardenburg syndrome type 1, including pigmentary defects and sensorineural hearing loss. Single cases were reported by <a href="#22" class="mim-tip-reference" title="Wilbrandt, H. R., Ammann, F. &lt;strong&gt;Nouvelle observation de la forme grave du syndrome de Klein-Waardenburg.&lt;/strong&gt; Arch. Klaus Stift. Vererbungsforsch. 39: 80-92, 1964.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5899973/&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;5899973&lt;/a&gt;]" pmid="5899973">Wilbrandt and Ammann (1964)</a> and and <a href="#12" class="mim-tip-reference" title="Mossallam, I., El-Khodary, A. F., Temtamy, S. A. &lt;strong&gt;Waardenburg&#x27;s syndrome in Egypt.&lt;/strong&gt; Ain Shams Med. J. 25: 43-62, 1974."None>Mossallam et al. (1974)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5899973" 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="#8" class="mim-tip-reference" title="Klein, D. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Geneva, Switzerland 9/1981."None>Klein (1981)</a> visited the patient of <a href="#10" class="mim-tip-reference" title="Marx, P., Bertrand, J. &lt;strong&gt;Un cas de syndrome Waardenburg-Klein.&lt;/strong&gt; Bull. Soc. Ophtal. Franc. 68: 444-447, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5759294/&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;5759294&lt;/a&gt;]" pmid="5759294">Marx and Bertrand (1968)</a> and found that he had an 11-year-old son with classic facial changes of Waardenburg syndrome and winged scapulae, but no gross or radiographic changes in the arms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5759294" 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="Goodman, R. M., Lewithal, I., Solomon, A., Klein, D. &lt;strong&gt;Upper limb involvement in the Klein-Waardenburg syndrome.&lt;/strong&gt; Am. J. Med. Genet. 11: 425-433, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7091186/&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;7091186&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320110407&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="7091186">Goodman et al. (1982)</a> documented the combination of upper limb abnormalities and the facial and ocular abnormalities of the Waardenburg syndrome in a Yemenite Jewish brother and sister, and reviewed this association in 4 patients reported earlier. The bilateral upper limb anomalies included hypoplasia of the musculoskeletal system, flexion contractures, fusion of the carpal bones, and syndactyly. The brother, at age 23 years, had a head circumference of only 55 cm (height 161 cm), but presumably normal intelligence. The sister, at age 25 years, had marked microcephaly (head circumference 47 cm), severe mental retardation, and spastic paraplegia. Parental consanguinity was denied. <a href="#17" class="mim-tip-reference" title="Sheffer, R., Zlotogora, J. &lt;strong&gt;Autosomal dominant inheritance of Klein-Waardenburg syndrome.&lt;/strong&gt; Am. J. Med. Genet. 42: 320-322, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1536170/&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;1536170&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320420312&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="1536170">Sheffer and Zlotogora (1992)</a> provided follow-up of the family reported by <a href="#3" class="mim-tip-reference" title="Goodman, R. M., Lewithal, I., Solomon, A., Klein, D. &lt;strong&gt;Upper limb involvement in the Klein-Waardenburg syndrome.&lt;/strong&gt; Am. J. Med. Genet. 11: 425-433, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7091186/&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;7091186&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320110407&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="7091186">Goodman et al. (1982)</a>. <a href="#17" class="mim-tip-reference" title="Sheffer, R., Zlotogora, J. &lt;strong&gt;Autosomal dominant inheritance of Klein-Waardenburg syndrome.&lt;/strong&gt; Am. J. Med. Genet. 42: 320-322, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1536170/&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;1536170&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320420312&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="1536170">Sheffer and Zlotogora (1992)</a> described a brother and sister with dystopia canthorum, blepharophimosis, and bilateral flexion contractures of the fingers. The father of these sibs and his sister, who had previously been reported by <a href="#3" class="mim-tip-reference" title="Goodman, R. M., Lewithal, I., Solomon, A., Klein, D. &lt;strong&gt;Upper limb involvement in the Klein-Waardenburg syndrome.&lt;/strong&gt; Am. J. Med. Genet. 11: 425-433, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7091186/&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;7091186&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320110407&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="7091186">Goodman et al. (1982)</a>, showed the same features. The flexion contractures in both the proposita and her father were pictured by <a href="#17" class="mim-tip-reference" title="Sheffer, R., Zlotogora, J. &lt;strong&gt;Autosomal dominant inheritance of Klein-Waardenburg syndrome.&lt;/strong&gt; Am. J. Med. Genet. 42: 320-322, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1536170/&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;1536170&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320420312&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="1536170">Sheffer and Zlotogora (1992)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1536170+7091186" 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 their Figure 2, <a href="#20" class="mim-tip-reference" title="Tassabehji, M., Newton, V. E., Liu, X.-Z., Brady, A., Donnai, D., Krajewska-Walasek, M., Murday, V., Norman, A., Obersztyn, E., Reardon, W., Rice, J. C., Trembath, R., Wieacker, P., Whiteford, M., Winter, R., Read, A. P. &lt;strong&gt;The mutational spectrum in Waardenburg syndrome.&lt;/strong&gt; Hum. Molec. Genet. 4: 2131-2137, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8589691/&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;8589691&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/4.11.2131&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="8589691">Tassabehji et al. (1995)</a> pictured the hands of a man noted to have flexion contractures of the fingers characteristic of WS3. A nonsense mutation with predicted truncation of the PAX3 gene product was found: deletion of a cytosine at nucleotide 916 in exon 6 in the homeodomain. The daughter, who was also pictured, and the mother of the proband were said to have WS1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8589691" 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>From a systematic literature search, <a href="#18" class="mim-tip-reference" title="Song, J., Feng, Y., Acke, F. R., Coucke, P., Vleminckx, K., Dhooge, I. J. &lt;strong&gt;Hearing loss in Waardenburg syndrome: a systematic review.&lt;/strong&gt; Clin. Genet. 89: 416-425, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26100139/&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;26100139&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/cge.12631&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="26100139">Song et al. (2016)</a> determined that the prevalence of hearing loss in patients with Waardenburg syndrome differed according to the genotype: the prevalence in those with WS3 due to PAX3 mutations was 57.1%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26100139" 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><strong><em>Clinical Variability</em></strong></p><p>
<a href="#4" class="mim-tip-reference" title="Goodman, R. M., Yahav, Y., Frand, M., Barzilay, Z., Nissan, E., Hertz, M. &lt;strong&gt;A new white forelock (poliosis) syndrome with multiple congenital malformations in two sibs.&lt;/strong&gt; Clin. Genet. 17: 437-442, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7398117/&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;7398117&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1980.tb00177.x&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="7398117">Goodman et al. (1980)</a> reported the cases of 2 Ashkenazi Jewish brothers with a 'new' syndrome of white forelock (poliosis), distinctive facial features and congenital malformations of the ocular, cardiopulmonary and skeletal systems. Ocular hypertelorism, atrial septal defect, prominent thoracic and abdominal veins, hypoplastic or absent terminal phalanges of toes, and segmental bronchomalacia with atelectasis were features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7398117" 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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<p><a href="#3" class="mim-tip-reference" title="Goodman, R. M., Lewithal, I., Solomon, A., Klein, D. &lt;strong&gt;Upper limb involvement in the Klein-Waardenburg syndrome.&lt;/strong&gt; Am. J. Med. Genet. 11: 425-433, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7091186/&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;7091186&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320110407&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="7091186">Goodman et al. (1982)</a> favored autosomal dominant inheritance. Follow-up of this family by <a href="#17" class="mim-tip-reference" title="Sheffer, R., Zlotogora, J. &lt;strong&gt;Autosomal dominant inheritance of Klein-Waardenburg syndrome.&lt;/strong&gt; Am. J. Med. Genet. 42: 320-322, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1536170/&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;1536170&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320420312&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="1536170">Sheffer and Zlotogora (1992)</a> appeared to confirm autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1536170+7091186" 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><a href="#11" class="mim-tip-reference" title="Milunsky, A., Lipsky, N., Sheffer, R., Zlotogora, J., Baldwin, C. &lt;strong&gt;A mutation in the Waardenburg syndrome (WS-I) gene in a family with &#x27;WS-III&#x27;. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 51 (suppl.): A222, 1992."None>Milunsky et al. (1992)</a> and <a href="#6" class="mim-tip-reference" title="Hoth, C. F., Milunsky, A., Lipsky, N., Sheffer, R., Clarren, S. K., Baldwin, C. T. &lt;strong&gt;Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).&lt;/strong&gt; Am. J. Hum. Genet. 52: 455-462, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8447316/&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;8447316&lt;/a&gt;]" pmid="8447316">Hoth et al. (1993)</a> identified a heterozygous mutation in the PAX3 gene (N47H; <a href="/entry/606597#0011">606597.0011</a>) in a Yemenite/Russian Jewish family with the Klein-Waardenburg syndrome (<a href="#3" class="mim-tip-reference" title="Goodman, R. M., Lewithal, I., Solomon, A., Klein, D. &lt;strong&gt;Upper limb involvement in the Klein-Waardenburg syndrome.&lt;/strong&gt; Am. J. Med. Genet. 11: 425-433, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7091186/&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;7091186&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320110407&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="7091186">Goodman et al., 1982</a> and <a href="#17" class="mim-tip-reference" title="Sheffer, R., Zlotogora, J. &lt;strong&gt;Autosomal dominant inheritance of Klein-Waardenburg syndrome.&lt;/strong&gt; Am. J. Med. Genet. 42: 320-322, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1536170/&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;1536170&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320420312&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="1536170">Sheffer and Zlotogora, 1992</a>). The father, his 2 children, and his sister had signs of the disorder, but neither of the father's parents were affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8447316+1536170+7091186" 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="#21" class="mim-tip-reference" title="Tekin, M., Bodurtha, J. N., Nance, W. E., Pandya, A. &lt;strong&gt;Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?&lt;/strong&gt; Clin. Genet. 60: 301-304, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11683776/&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;11683776&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1034/j.1399-0004.2001.600408.x&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="11683776">Tekin et al. (2001)</a> described a mother and son with typical clinical findings of WS type 3 segregating with a heterozygous 13-bp deletion in the paired domain in exon 3 of the PAX3 gene (<a href="/entry/606597#0012">606597.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11683776" 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="#24" class="mim-tip-reference" title="Zlotogora, J., Lerer, I., Bar-David, S., Ergaz, Z., Abeliovich, D. &lt;strong&gt;Homozygosity for Waardenburg syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 56: 1173-1178, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7726174/&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;7726174&lt;/a&gt;]" pmid="7726174">Zlotogora et al. (1995)</a> presented evidence that homozygosity for a PAX3 mutation can cause WS type 3 (see GENOTYPE/PHENOTYPE CORRELATIONS). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7726174" 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="genotypePhenotypeCorrelations" class="mim-anchor"></a>
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<strong>Genotype/Phenotype Correlations</strong>
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<p><a href="#24" class="mim-tip-reference" title="Zlotogora, J., Lerer, I., Bar-David, S., Ergaz, Z., Abeliovich, D. &lt;strong&gt;Homozygosity for Waardenburg syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 56: 1173-1178, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7726174/&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;7726174&lt;/a&gt;]" pmid="7726174">Zlotogora et al. (1995)</a> presented evidence that homozygosity for a PAX3 mutation can cause WS type 3. In a large kindred, including many individuals affected with WS type 1, a child was born affected with a very severe form of WS type 3. The child presented with dystopia canthorum, partial albinism, and very severe upper-limb defects. His parents were first cousins and both were affected with a mild form of WS1. Molecular analysis identified a heterozygous mutation in the PAX3 gene (S84F; <a href="/entry/606497#0009">606497.0009</a>). Individuals with WS type 1 were heterozygous for the mutation and the child with WS type 3 was homozygous. The observation that the PAX3 homozygote survived at least into early infancy and did not suffer from a neural tube defect was unexpected, since, in all the Pax3 mutations known in the mice, homozygosity leads to severe neural tube defects and intrauterine or neonatal death. <a href="#1" class="mim-tip-reference" title="Ayme, S., Philip, N. &lt;strong&gt;Possible homozygous Waardenburg syndrome in a fetus with exencephaly. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 59: 263-265, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8588597/&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;8588597&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320590227&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="8588597">Ayme and Philip (1995)</a> likewise described possible homozygosity for a PAX3 mutation in a fetus with exencephaly and severe contractures and webbing of the limbs. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7726174+8588597" 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="#23" class="mim-tip-reference" title="Wollnik, B., Tukel, T., Uyguner, O., Ghanbari, A., Kayserili, H., Emiroglu, M., Yuksel-Apak, M. &lt;strong&gt;Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.&lt;/strong&gt; Am. J. Med. Genet. 122A: 42-45, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12949970/&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;12949970&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.20260&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="12949970">Wollnik et al. (2003)</a> reported a family in which both parents were heterozygous for a Y90H mutation in PAX3 (<a href="/entry/606597#0013">606597.0013</a>) and had Waardenburg syndrome type 1; the offspring was homozygous for the mutation and had Waardenburg syndrome type 3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12949970" 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="cytogenetics" class="mim-anchor"></a>
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<p>In a patient with Waardenburg syndrome type 3 with characteristic features of severe neurosensory deafness, diagnostic dysmorphic facial features, hypopigmentation, and severe axial and limb skeletal anomalies, <a href="#14" class="mim-tip-reference" title="Pasteris, N. G., Trask, B., Sheldon, S., Gorski, J. L. &lt;strong&gt;A chromosome deletion 2q35-36 spanning loci HuP2 and COL4A3 results in Waardenburg syndrome type III (Klein-Waardenburg syndrome). (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 51 (suppl.): A224, 1992."None>Pasteris et al. (1992)</a> identified a de novo deletion of 2q35-q36. Chromosome 2 homologs could not be distinguished by bivariant fluorescent-activated chromosome sorting, suggesting that the deletion was less than 5% of the chromosome length, i.e., less than 12.5 megabases. Densitometric hybridization analyses showed that the patient was hemizygous for loci HuP2 (PAX3) and COL4A3 (<a href="/entry/120070">120070</a>) and that flanking loci INHA (<a href="/entry/147380">147380</a>) and ALPI (<a href="/entry/171740">171740</a>) were present in 2 copies. Analyses of somatic cell hybrids selectively retaining the chromosome 2 showed that the deletion was paternal in origin. Physical mapping confirmed the deletion of 2q35-q36 and showed that COL4A3 is telomeric to PAX3. From these studies, <a href="#14" class="mim-tip-reference" title="Pasteris, N. G., Trask, B., Sheldon, S., Gorski, J. L. &lt;strong&gt;A chromosome deletion 2q35-36 spanning loci HuP2 and COL4A3 results in Waardenburg syndrome type III (Klein-Waardenburg syndrome). (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 51 (suppl.): A224, 1992."None>Pasteris et al. (1992)</a> concluded that Waardenburg syndrome type 3 is a contiguous gene syndrome. By molecular analysis of a chromosome 2 deletion mapping panel, <a href="#13" class="mim-tip-reference" title="Pasteris, N. G., Trask, B. J., Sheldon, S., Gorski, J. L. &lt;strong&gt;Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35.&lt;/strong&gt; Hum. Molec. Genet. 2: 953-959, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8103404/&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;8103404&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/2.7.953&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="8103404">Pasteris et al. (1993)</a> determined that the order of loci on 2q is as follows: cen--(INHA, DES)--PAX3--COL4A3--(ALPI, CHRND)--tel. They also studied a patient with cleft palate and lip pits who lacked diagnostic WS features and found that the del(2)(q33q35) deletion involved the PAX3 locus. The finding suggested that not all PAX3 mutations are associated with a WS phenotype and that additional loci in the region may modify or regulate the PAX3 locus and/or the development of the WS phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8103404" 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="animalModel" class="mim-anchor"></a>
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<p>Homozygosity in the 'splotch' mouse, a mouse model for Waardenburg syndrome due to a PAX3 deletion, leads to neural tube defect in addition to severe limb defects <a href="#2" class="mim-tip-reference" title="Epstein, D. J., Vekemans, M., Gros, P. &lt;strong&gt;Splotch (Sp-2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3.&lt;/strong&gt; Cell 67: 767-774, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1682057/&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;1682057&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0092-8674(91)90071-6&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="1682057">Epstein et al. (1991)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1682057" 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="seeAlso" class="mim-anchor"></a>
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<a href="#Klein1983" class="mim-tip-reference" title="Klein, D. &lt;strong&gt;Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III).&lt;/strong&gt; Am. J. Med. Genet. 14: 231-239, 1983.">Klein (1983)</a>; <a href="#Tamayo2008" class="mim-tip-reference" title="Tamayo, M. L., Gelvez, N., Rodriguez, M., Florez, S., Varon, C., Medina, D., Bernal, J. E. &lt;strong&gt;Screening program for Waardenburg syndrome in Colombia: clinical definition and phenotypic variability.&lt;/strong&gt; Am. J. Med. Genet. 146A: 1026-1031, 2008.">Tamayo et al. (2008)</a>
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<a id="1" class="mim-anchor"></a>
<a id="Ayme1995" class="mim-anchor"></a>
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Ayme, S., Philip, N.
<strong>Possible homozygous Waardenburg syndrome in a fetus with exencephaly. (Letter)</strong>
Am. J. Med. Genet. 59: 263-265, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8588597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8588597</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8588597" 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.1320590227" target="_blank">Full Text</a>]
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<a id="Epstein1991" class="mim-anchor"></a>
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Epstein, D. J., Vekemans, M., Gros, P.
<strong>Splotch (Sp-2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3.</strong>
Cell 67: 767-774, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1682057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1682057</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1682057" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0092-8674(91)90071-6" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="3" class="mim-anchor"></a>
<a id="Goodman1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Goodman, R. M., Lewithal, I., Solomon, A., Klein, D.
<strong>Upper limb involvement in the Klein-Waardenburg syndrome.</strong>
Am. J. Med. Genet. 11: 425-433, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7091186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7091186</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7091186" 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.1320110407" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="4" class="mim-anchor"></a>
<a id="Goodman1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Goodman, R. M., Yahav, Y., Frand, M., Barzilay, Z., Nissan, E., Hertz, M.
<strong>A new white forelock (poliosis) syndrome with multiple congenital malformations in two sibs.</strong>
Clin. Genet. 17: 437-442, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7398117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7398117</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7398117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1980.tb00177.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="5" class="mim-anchor"></a>
<a id="Gorlin1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gorlin, R. J., Pindborg, J., Cohen, M. M., Jr.
<strong>Syndromes of the Head and Neck. (2nd ed.)</strong>
New York: McGraw-Hill (pub.) 1976.
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Hoth1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hoth, C. F., Milunsky, A., Lipsky, N., Sheffer, R., Clarren, S. K., Baldwin, C. T.
<strong>Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).</strong>
Am. J. Hum. Genet. 52: 455-462, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8447316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8447316</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8447316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Klein1950" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Klein, D.
<strong>Albinisme partiel (leucisme) avec surdi-mutite, blepharophimosis et dysplasie myo-osteo-articulaire.</strong>
Helv. Paediat. Acta 5: 38-58, 1950.
</p>
</div>
</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="Klein1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Klein, D.
<strong>Personal Communication.</strong>
Geneva, Switzerland 9/1981.
</p>
</div>
</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Klein1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Klein, D.
<strong>Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III).</strong>
Am. J. Med. Genet. 14: 231-239, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6340503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6340503</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6340503" 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.1320140205" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="10" class="mim-anchor"></a>
<a id="Marx1968" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Marx, P., Bertrand, J.
<strong>Un cas de syndrome Waardenburg-Klein.</strong>
Bull. Soc. Ophtal. Franc. 68: 444-447, 1968.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5759294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5759294</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5759294" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="11" class="mim-anchor"></a>
<a id="Milunsky1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Milunsky, A., Lipsky, N., Sheffer, R., Zlotogora, J., Baldwin, C.
<strong>A mutation in the Waardenburg syndrome (WS-I) gene in a family with 'WS-III'. (Abstract)</strong>
Am. J. Hum. Genet. 51 (suppl.): A222, 1992.
</p>
</div>
</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="Mossallam1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mossallam, I., El-Khodary, A. F., Temtamy, S. A.
<strong>Waardenburg's syndrome in Egypt.</strong>
Ain Shams Med. J. 25: 43-62, 1974.
</p>
</div>
</li>
<li>
<a id="13" class="mim-anchor"></a>
<a id="Pasteris1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pasteris, N. G., Trask, B. J., Sheldon, S., Gorski, J. L.
<strong>Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35.</strong>
Hum. Molec. Genet. 2: 953-959, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8103404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8103404</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8103404" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/2.7.953" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="14" class="mim-anchor"></a>
<a id="Pasteris1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pasteris, N. G., Trask, B., Sheldon, S., Gorski, J. L.
<strong>A chromosome deletion 2q35-36 spanning loci HuP2 and COL4A3 results in Waardenburg syndrome type III (Klein-Waardenburg syndrome). (Abstract)</strong>
Am. J. Hum. Genet. 51 (suppl.): A224, 1992.
</p>
</div>
</li>
<li>
<a id="15" class="mim-anchor"></a>
<a id="Pingault2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pingault, V., Ente, D., Dastot-Le Moal, F., Goossens, M., Marlin, S., Bondurand, N.
<strong>Review and update of mutations causing Waardenburg syndrome.</strong>
Hum. Mutat. 31: 391-406, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20127975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20127975</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20127975" 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/humu.21211" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="16" class="mim-anchor"></a>
<a id="Read1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Read, A. P., Newton, V. E.
<strong>Waardenburg syndrome.</strong>
J. Med. Genet. 34: 656-665, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9279758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9279758</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9279758" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.34.8.656" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="17" class="mim-anchor"></a>
<a id="Sheffer1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sheffer, R., Zlotogora, J.
<strong>Autosomal dominant inheritance of Klein-Waardenburg syndrome.</strong>
Am. J. Med. Genet. 42: 320-322, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1536170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1536170</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1536170" 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.1320420312" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="18" class="mim-anchor"></a>
<a id="Song2016" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Song, J., Feng, Y., Acke, F. R., Coucke, P., Vleminckx, K., Dhooge, I. J.
<strong>Hearing loss in Waardenburg syndrome: a systematic review.</strong>
Clin. Genet. 89: 416-425, 2016.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26100139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26100139</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26100139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/cge.12631" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="19" class="mim-anchor"></a>
<a id="Tamayo2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tamayo, M. L., Gelvez, N., Rodriguez, M., Florez, S., Varon, C., Medina, D., Bernal, J. E.
<strong>Screening program for Waardenburg syndrome in Colombia: clinical definition and phenotypic variability.</strong>
Am. J. Med. Genet. 146A: 1026-1031, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18241065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18241065</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18241065" 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.a.32189" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="20" class="mim-anchor"></a>
<a id="Tassabehji1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tassabehji, M., Newton, V. E., Liu, X.-Z., Brady, A., Donnai, D., Krajewska-Walasek, M., Murday, V., Norman, A., Obersztyn, E., Reardon, W., Rice, J. C., Trembath, R., Wieacker, P., Whiteford, M., Winter, R., Read, A. P.
<strong>The mutational spectrum in Waardenburg syndrome.</strong>
Hum. Molec. Genet. 4: 2131-2137, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8589691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8589691</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8589691" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/4.11.2131" target="_blank">Full Text</a>]
</p>
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<a id="21" class="mim-anchor"></a>
<a id="Tekin2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tekin, M., Bodurtha, J. N., Nance, W. E., Pandya, A.
<strong>Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?</strong>
Clin. Genet. 60: 301-304, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11683776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11683776</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11683776" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1034/j.1399-0004.2001.600408.x" target="_blank">Full Text</a>]
</p>
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<a id="22" class="mim-anchor"></a>
<a id="Wilbrandt1964" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wilbrandt, H. R., Ammann, F.
<strong>Nouvelle observation de la forme grave du syndrome de Klein-Waardenburg.</strong>
Arch. Klaus Stift. Vererbungsforsch. 39: 80-92, 1964.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5899973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5899973</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5899973" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
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<li>
<a id="23" class="mim-anchor"></a>
<a id="Wollnik2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wollnik, B., Tukel, T., Uyguner, O., Ghanbari, A., Kayserili, H., Emiroglu, M., Yuksel-Apak, M.
<strong>Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.</strong>
Am. J. Med. Genet. 122A: 42-45, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12949970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12949970</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12949970" 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.a.20260" target="_blank">Full Text</a>]
</p>
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<a id="24" class="mim-anchor"></a>
<a id="Zlotogora1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zlotogora, J., Lerer, I., Bar-David, S., Ergaz, Z., Abeliovich, D.
<strong>Homozygosity for Waardenburg syndrome.</strong>
Am. J. Hum. Genet. 56: 1173-1178, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7726174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7726174</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7726174" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
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<a id="contributors" class="mim-anchor"></a>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Cassandra L. Kniffin - updated : 5/24/2016
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Cassandra L. Kniffin - updated : 3/8/2010<br>Victor A. McKusick - updated : 9/25/2003
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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Victor A. McKusick : 6/2/1986
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alopez : 07/21/2023
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carol : 07/09/2016<br>carol : 5/24/2016<br>ckniffin : 5/24/2016<br>carol : 5/16/2016<br>ckniffin : 3/15/2010<br>carol : 3/11/2010<br>ckniffin : 3/8/2010<br>mgross : 3/29/2006<br>terry : 11/3/2004<br>cwells : 9/25/2003<br>carol : 1/8/2002<br>dkim : 12/10/1998<br>carol : 6/18/1998<br>mark : 1/26/1998<br>terry : 1/26/1998<br>jenny : 9/19/1997<br>terry : 9/15/1997<br>terry : 3/26/1996<br>mark : 3/12/1996<br>terry : 3/5/1996<br>mark : 1/30/1996<br>mark : 1/25/1996<br>mark : 5/2/1995<br>mimadm : 11/5/1994<br>pfoster : 8/18/1994<br>davew : 7/28/1994<br>carol : 5/23/1994<br>terry : 5/13/1994
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<h3>
<span class="mim-font">
<strong>#</strong> 148820
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<h3>
<span class="mim-font">
WAARDENBURG SYNDROME, TYPE 3; WS3
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<span class="mim-font">
<em>Alternative titles; symbols</em>
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<h4>
<span class="mim-font">
WAARDENBURG SYNDROME WITH UPPER LIMB ANOMALIES<br />
WAARDENBURG SYNDROME, TYPE III<br />
KLEIN-WAARDENBURG SYNDROME
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<br />
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<p>
<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 237918004; &nbsp;
<strong>ORPHA:</strong> 3440, 896; &nbsp;
<strong>DO:</strong> 0110949; &nbsp;
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<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
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</h4>
<div>
<table class="table table-bordered table-condensed 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">
2q36.1
</span>
</td>
<td>
<span class="mim-font">
Waardenburg syndrome, type 3
</span>
</td>
<td>
<span class="mim-font">
148820
</span>
</td>
<td>
<span class="mim-font">
Autosomal dominant; Autosomal recessive
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
PAX3
</span>
</td>
<td>
<span class="mim-font">
606597
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>TEXT</strong>
</span>
</h4>
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because Waardenburg syndrome type 3 (WS3) is caused by heterozygous or homozygous mutation in the PAX3 gene (606597) on chromosome 2q36.</p><p>Waardenburg syndrome type 1 (WS1; 193500) is also caused by heterozygous mutation in the PAX3 gene.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). </p><p><strong><em>Clinical Variability of Waardenburg Syndrome Types 1-4</em></strong></p><p>
Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1; 193500) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4; 277580), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Klein (1950) first reported the association of limb anomalies with what has come to be recognized as the hallmarks of Waardenburg syndrome type 1, including pigmentary defects and sensorineural hearing loss. Single cases were reported by Wilbrandt and Ammann (1964) and and Mossallam et al. (1974). </p><p>Klein (1981) visited the patient of Marx and Bertrand (1968) and found that he had an 11-year-old son with classic facial changes of Waardenburg syndrome and winged scapulae, but no gross or radiographic changes in the arms. </p><p>Goodman et al. (1982) documented the combination of upper limb abnormalities and the facial and ocular abnormalities of the Waardenburg syndrome in a Yemenite Jewish brother and sister, and reviewed this association in 4 patients reported earlier. The bilateral upper limb anomalies included hypoplasia of the musculoskeletal system, flexion contractures, fusion of the carpal bones, and syndactyly. The brother, at age 23 years, had a head circumference of only 55 cm (height 161 cm), but presumably normal intelligence. The sister, at age 25 years, had marked microcephaly (head circumference 47 cm), severe mental retardation, and spastic paraplegia. Parental consanguinity was denied. Sheffer and Zlotogora (1992) provided follow-up of the family reported by Goodman et al. (1982). Sheffer and Zlotogora (1992) described a brother and sister with dystopia canthorum, blepharophimosis, and bilateral flexion contractures of the fingers. The father of these sibs and his sister, who had previously been reported by Goodman et al. (1982), showed the same features. The flexion contractures in both the proposita and her father were pictured by Sheffer and Zlotogora (1992). </p><p>In their Figure 2, Tassabehji et al. (1995) pictured the hands of a man noted to have flexion contractures of the fingers characteristic of WS3. A nonsense mutation with predicted truncation of the PAX3 gene product was found: deletion of a cytosine at nucleotide 916 in exon 6 in the homeodomain. The daughter, who was also pictured, and the mother of the proband were said to have WS1. </p><p>From a systematic literature search, Song et al. (2016) determined that the prevalence of hearing loss in patients with Waardenburg syndrome differed according to the genotype: the prevalence in those with WS3 due to PAX3 mutations was 57.1%. </p><p><strong><em>Clinical Variability</em></strong></p><p>
Goodman et al. (1980) reported the cases of 2 Ashkenazi Jewish brothers with a 'new' syndrome of white forelock (poliosis), distinctive facial features and congenital malformations of the ocular, cardiopulmonary and skeletal systems. Ocular hypertelorism, atrial septal defect, prominent thoracic and abdominal veins, hypoplastic or absent terminal phalanges of toes, and segmental bronchomalacia with atelectasis were features. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Goodman et al. (1982) favored autosomal dominant inheritance. Follow-up of this family by Sheffer and Zlotogora (1992) appeared to confirm autosomal dominant inheritance. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Milunsky et al. (1992) and Hoth et al. (1993) identified a heterozygous mutation in the PAX3 gene (N47H; 606597.0011) in a Yemenite/Russian Jewish family with the Klein-Waardenburg syndrome (Goodman et al., 1982 and Sheffer and Zlotogora, 1992). The father, his 2 children, and his sister had signs of the disorder, but neither of the father's parents were affected. </p><p>Tekin et al. (2001) described a mother and son with typical clinical findings of WS type 3 segregating with a heterozygous 13-bp deletion in the paired domain in exon 3 of the PAX3 gene (606597.0012). </p><p>Zlotogora et al. (1995) presented evidence that homozygosity for a PAX3 mutation can cause WS type 3 (see GENOTYPE/PHENOTYPE CORRELATIONS). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Zlotogora et al. (1995) presented evidence that homozygosity for a PAX3 mutation can cause WS type 3. In a large kindred, including many individuals affected with WS type 1, a child was born affected with a very severe form of WS type 3. The child presented with dystopia canthorum, partial albinism, and very severe upper-limb defects. His parents were first cousins and both were affected with a mild form of WS1. Molecular analysis identified a heterozygous mutation in the PAX3 gene (S84F; 606497.0009). Individuals with WS type 1 were heterozygous for the mutation and the child with WS type 3 was homozygous. The observation that the PAX3 homozygote survived at least into early infancy and did not suffer from a neural tube defect was unexpected, since, in all the Pax3 mutations known in the mice, homozygosity leads to severe neural tube defects and intrauterine or neonatal death. Ayme and Philip (1995) likewise described possible homozygosity for a PAX3 mutation in a fetus with exencephaly and severe contractures and webbing of the limbs. </p><p>Wollnik et al. (2003) reported a family in which both parents were heterozygous for a Y90H mutation in PAX3 (606597.0013) and had Waardenburg syndrome type 1; the offspring was homozygous for the mutation and had Waardenburg syndrome type 3. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Cytogenetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In a patient with Waardenburg syndrome type 3 with characteristic features of severe neurosensory deafness, diagnostic dysmorphic facial features, hypopigmentation, and severe axial and limb skeletal anomalies, Pasteris et al. (1992) identified a de novo deletion of 2q35-q36. Chromosome 2 homologs could not be distinguished by bivariant fluorescent-activated chromosome sorting, suggesting that the deletion was less than 5% of the chromosome length, i.e., less than 12.5 megabases. Densitometric hybridization analyses showed that the patient was hemizygous for loci HuP2 (PAX3) and COL4A3 (120070) and that flanking loci INHA (147380) and ALPI (171740) were present in 2 copies. Analyses of somatic cell hybrids selectively retaining the chromosome 2 showed that the deletion was paternal in origin. Physical mapping confirmed the deletion of 2q35-q36 and showed that COL4A3 is telomeric to PAX3. From these studies, Pasteris et al. (1992) concluded that Waardenburg syndrome type 3 is a contiguous gene syndrome. By molecular analysis of a chromosome 2 deletion mapping panel, Pasteris et al. (1993) determined that the order of loci on 2q is as follows: cen--(INHA, DES)--PAX3--COL4A3--(ALPI, CHRND)--tel. They also studied a patient with cleft palate and lip pits who lacked diagnostic WS features and found that the del(2)(q33q35) deletion involved the PAX3 locus. The finding suggested that not all PAX3 mutations are associated with a WS phenotype and that additional loci in the region may modify or regulate the PAX3 locus and/or the development of the WS phenotype. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Homozygosity in the 'splotch' mouse, a mouse model for Waardenburg syndrome due to a PAX3 deletion, leads to neural tube defect in addition to severe limb defects Epstein et al. (1991). </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Klein (1983); Tamayo et al. (2008)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Ayme, S., Philip, N.
<strong>Possible homozygous Waardenburg syndrome in a fetus with exencephaly. (Letter)</strong>
Am. J. Med. Genet. 59: 263-265, 1995.
[PubMed: 8588597]
[Full Text: https://doi.org/10.1002/ajmg.1320590227]
</p>
</li>
<li>
<p class="mim-text-font">
Epstein, D. J., Vekemans, M., Gros, P.
<strong>Splotch (Sp-2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3.</strong>
Cell 67: 767-774, 1991.
[PubMed: 1682057]
[Full Text: https://doi.org/10.1016/0092-8674(91)90071-6]
</p>
</li>
<li>
<p class="mim-text-font">
Goodman, R. M., Lewithal, I., Solomon, A., Klein, D.
<strong>Upper limb involvement in the Klein-Waardenburg syndrome.</strong>
Am. J. Med. Genet. 11: 425-433, 1982.
[PubMed: 7091186]
[Full Text: https://doi.org/10.1002/ajmg.1320110407]
</p>
</li>
<li>
<p class="mim-text-font">
Goodman, R. M., Yahav, Y., Frand, M., Barzilay, Z., Nissan, E., Hertz, M.
<strong>A new white forelock (poliosis) syndrome with multiple congenital malformations in two sibs.</strong>
Clin. Genet. 17: 437-442, 1980.
[PubMed: 7398117]
[Full Text: https://doi.org/10.1111/j.1399-0004.1980.tb00177.x]
</p>
</li>
<li>
<p class="mim-text-font">
Gorlin, R. J., Pindborg, J., Cohen, M. M., Jr.
<strong>Syndromes of the Head and Neck. (2nd ed.)</strong>
New York: McGraw-Hill (pub.) 1976.
</p>
</li>
<li>
<p class="mim-text-font">
Hoth, C. F., Milunsky, A., Lipsky, N., Sheffer, R., Clarren, S. K., Baldwin, C. T.
<strong>Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).</strong>
Am. J. Hum. Genet. 52: 455-462, 1993.
[PubMed: 8447316]
</p>
</li>
<li>
<p class="mim-text-font">
Klein, D.
<strong>Albinisme partiel (leucisme) avec surdi-mutite, blepharophimosis et dysplasie myo-osteo-articulaire.</strong>
Helv. Paediat. Acta 5: 38-58, 1950.
</p>
</li>
<li>
<p class="mim-text-font">
Klein, D.
<strong>Personal Communication.</strong>
Geneva, Switzerland 9/1981.
</p>
</li>
<li>
<p class="mim-text-font">
Klein, D.
<strong>Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III).</strong>
Am. J. Med. Genet. 14: 231-239, 1983.
[PubMed: 6340503]
[Full Text: https://doi.org/10.1002/ajmg.1320140205]
</p>
</li>
<li>
<p class="mim-text-font">
Marx, P., Bertrand, J.
<strong>Un cas de syndrome Waardenburg-Klein.</strong>
Bull. Soc. Ophtal. Franc. 68: 444-447, 1968.
[PubMed: 5759294]
</p>
</li>
<li>
<p class="mim-text-font">
Milunsky, A., Lipsky, N., Sheffer, R., Zlotogora, J., Baldwin, C.
<strong>A mutation in the Waardenburg syndrome (WS-I) gene in a family with &#x27;WS-III&#x27;. (Abstract)</strong>
Am. J. Hum. Genet. 51 (suppl.): A222, 1992.
</p>
</li>
<li>
<p class="mim-text-font">
Mossallam, I., El-Khodary, A. F., Temtamy, S. A.
<strong>Waardenburg&#x27;s syndrome in Egypt.</strong>
Ain Shams Med. J. 25: 43-62, 1974.
</p>
</li>
<li>
<p class="mim-text-font">
Pasteris, N. G., Trask, B. J., Sheldon, S., Gorski, J. L.
<strong>Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35.</strong>
Hum. Molec. Genet. 2: 953-959, 1993.
[PubMed: 8103404]
[Full Text: https://doi.org/10.1093/hmg/2.7.953]
</p>
</li>
<li>
<p class="mim-text-font">
Pasteris, N. G., Trask, B., Sheldon, S., Gorski, J. L.
<strong>A chromosome deletion 2q35-36 spanning loci HuP2 and COL4A3 results in Waardenburg syndrome type III (Klein-Waardenburg syndrome). (Abstract)</strong>
Am. J. Hum. Genet. 51 (suppl.): A224, 1992.
</p>
</li>
<li>
<p class="mim-text-font">
Pingault, V., Ente, D., Dastot-Le Moal, F., Goossens, M., Marlin, S., Bondurand, N.
<strong>Review and update of mutations causing Waardenburg syndrome.</strong>
Hum. Mutat. 31: 391-406, 2010.
[PubMed: 20127975]
[Full Text: https://doi.org/10.1002/humu.21211]
</p>
</li>
<li>
<p class="mim-text-font">
Read, A. P., Newton, V. E.
<strong>Waardenburg syndrome.</strong>
J. Med. Genet. 34: 656-665, 1997.
[PubMed: 9279758]
[Full Text: https://doi.org/10.1136/jmg.34.8.656]
</p>
</li>
<li>
<p class="mim-text-font">
Sheffer, R., Zlotogora, J.
<strong>Autosomal dominant inheritance of Klein-Waardenburg syndrome.</strong>
Am. J. Med. Genet. 42: 320-322, 1992.
[PubMed: 1536170]
[Full Text: https://doi.org/10.1002/ajmg.1320420312]
</p>
</li>
<li>
<p class="mim-text-font">
Song, J., Feng, Y., Acke, F. R., Coucke, P., Vleminckx, K., Dhooge, I. J.
<strong>Hearing loss in Waardenburg syndrome: a systematic review.</strong>
Clin. Genet. 89: 416-425, 2016.
[PubMed: 26100139]
[Full Text: https://doi.org/10.1111/cge.12631]
</p>
</li>
<li>
<p class="mim-text-font">
Tamayo, M. L., Gelvez, N., Rodriguez, M., Florez, S., Varon, C., Medina, D., Bernal, J. E.
<strong>Screening program for Waardenburg syndrome in Colombia: clinical definition and phenotypic variability.</strong>
Am. J. Med. Genet. 146A: 1026-1031, 2008.
[PubMed: 18241065]
[Full Text: https://doi.org/10.1002/ajmg.a.32189]
</p>
</li>
<li>
<p class="mim-text-font">
Tassabehji, M., Newton, V. E., Liu, X.-Z., Brady, A., Donnai, D., Krajewska-Walasek, M., Murday, V., Norman, A., Obersztyn, E., Reardon, W., Rice, J. C., Trembath, R., Wieacker, P., Whiteford, M., Winter, R., Read, A. P.
<strong>The mutational spectrum in Waardenburg syndrome.</strong>
Hum. Molec. Genet. 4: 2131-2137, 1995.
[PubMed: 8589691]
[Full Text: https://doi.org/10.1093/hmg/4.11.2131]
</p>
</li>
<li>
<p class="mim-text-font">
Tekin, M., Bodurtha, J. N., Nance, W. E., Pandya, A.
<strong>Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?</strong>
Clin. Genet. 60: 301-304, 2001.
[PubMed: 11683776]
[Full Text: https://doi.org/10.1034/j.1399-0004.2001.600408.x]
</p>
</li>
<li>
<p class="mim-text-font">
Wilbrandt, H. R., Ammann, F.
<strong>Nouvelle observation de la forme grave du syndrome de Klein-Waardenburg.</strong>
Arch. Klaus Stift. Vererbungsforsch. 39: 80-92, 1964.
[PubMed: 5899973]
</p>
</li>
<li>
<p class="mim-text-font">
Wollnik, B., Tukel, T., Uyguner, O., Ghanbari, A., Kayserili, H., Emiroglu, M., Yuksel-Apak, M.
<strong>Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.</strong>
Am. J. Med. Genet. 122A: 42-45, 2003.
[PubMed: 12949970]
[Full Text: https://doi.org/10.1002/ajmg.a.20260]
</p>
</li>
<li>
<p class="mim-text-font">
Zlotogora, J., Lerer, I., Bar-David, S., Ergaz, Z., Abeliovich, D.
<strong>Homozygosity for Waardenburg syndrome.</strong>
Am. J. Hum. Genet. 56: 1173-1178, 1995.
[PubMed: 7726174]
</p>
</li>
</ol>
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Cassandra L. Kniffin - updated : 5/24/2016<br>Cassandra L. Kniffin - updated : 3/8/2010<br>Victor A. McKusick - updated : 9/25/2003
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