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- #129400 - RAPP-HODGKIN SYNDROME; RHS
- OMIM
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<span class="h4">#129400</span>
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/129400"><strong>Clinical Synopsis</strong></a>
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<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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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=RAPP-HODGKIN SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=17077&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Cleft lip and alveolus&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=18394&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Isolated cleft lip&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=18395&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Cleft lip/palate&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2717&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Rapp-Hodgkin syndrome&nbsp;</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK43797/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=141291" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Cleft lip and alveolus</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=199302" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Isolated cleft lip</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=199306" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Cleft lip/palate</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3022" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Rapp-Hodgkin syndrome</a></div>
</div>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/5938ed5f-09e3-408c-b26b-c510144a1e38/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
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</a>
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</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0060330" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/129400" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://omia.org/OMIA000197/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
</div>
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</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 7731005<br />
<strong>ORPHA:</strong> 141291, 199302, 199306, 3022<br />
<strong>DO:</strong> 0060330<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
129400
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
RAPP-HODGKIN SYNDROME; RHS
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATE
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/957?start=-3&limit=10&highlight=957">
3q28
</a>
</span>
</td>
<td>
<span class="mim-font">
Rapp-Hodgkin syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129400"> 129400 </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">
TP63
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603273"> 603273 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/129400" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/129400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/129400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Maxillary hypoplasia <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.03</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240310</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000327</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000327</a>]</span><br /> -
High forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239676&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239676</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000348" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000348</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000348" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000348</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=1ed202dc7ca7d5b2c5e34a787d713dec" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Hairline,High_Anterior-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=1ed202dc7ca7d5b2c5e34a787d713dec&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">
- Atretic ear canals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851880&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851880</a>]</span><br /> -
Hearing loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/103276001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">103276001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/343087000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">343087000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15188001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15188001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H91.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011053</a>, <a href="https://bioportal.bioontology.org/search?q=C0018772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018772</a>, <a href="https://bioportal.bioontology.org/search?q=C1384666&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1384666</a>, <a href="https://bioportal.bioontology.org/search?q=C3887873&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887873</a>, <a href="https://bioportal.bioontology.org/search?q=C2029884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2029884</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span><br /> -
Recurrent otitis media <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0747085&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0747085</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000403" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000403</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000403" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000403</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">
- Ptosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11934000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11934000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29696001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29696001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.409</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.3</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/374.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005745</a>, <a href="https://bioportal.bioontology.org/search?q=C0033377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ptosis-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Absent lacrimal puncta <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867060&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867060</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001092" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001092</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001092" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001092</a>]</span><br /> -
Absent lateral one-third of eyebrow <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851882&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851882</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">
- Low nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836542&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836542</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Depressed-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17&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 /> -
Narrow nose <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249322008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249322008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426422&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426422</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000460</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000460</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6a1e933947ff3e4fce326220923eaf53" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nose,Narrow-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=6a1e933947ff3e4fce326220923eaf53&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 /> -
Hypoplastic alae nasi <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> <span class="mim-feature-ids hidden">[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>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small mouth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14582003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14582003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q18.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q18.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/744.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">744.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000160" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000160</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000160" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000160</a>]</span><br /> -
Cleft lip <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80281008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80281008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q36" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q36</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q36.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q36.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008924</a>, <a href="https://bioportal.bioontology.org/search?q=C4321245&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4321245</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000204" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000204</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0410030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410030</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0410030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410030</a>]</span><br /> -
Cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br /> -
Cleft uvula <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18910001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18910001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266122&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266122</a>, <a href="https://bioportal.bioontology.org/search?q=C4551488&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551488</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000193" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000193</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000193" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000193</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3c22579bdef4e88303964de87353ca6f" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Uvula,Cleft-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=3c22579bdef4e88303964de87353ca6f&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 /> -
Velopharyngeal incompetence <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/232416001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">232416001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229726002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229726002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042454&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042454</a>, <a href="https://bioportal.bioontology.org/search?q=C0454634&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0454634</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000220" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000220</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000220" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000220</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Teeth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypodontia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64969001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64969001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020608&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020608</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000668</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000668</a>]</span><br /> -
Small, conical teeth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851883&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851883</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200141" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200141</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200141" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200141</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypospadias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204888000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204888000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/416010008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">416010008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.61</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0848558&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0848558</a>, <a href="https://bioportal.bioontology.org/search?q=C1691215&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1691215</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003244" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003244</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> External Genitalia (Female) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypoplastic labia majora <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/289469003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">289469003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0566899&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0566899</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000059</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000059</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> Hands </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">
- Thin skin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/277797007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">277797007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423757&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423757</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000963" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000963</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000963" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000963</a>]</span><br /> -
Decreased number of sweat pores <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851884</a>]</span><br /> -
Hypohidrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45004005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45004005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L74.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L74.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020620&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020620</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000966" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000966</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000966" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000966</a>]</span><br />
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<div>
<div>
<span class="h5 mim-font">
<em> Nails </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small nails <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11375002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11375002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263523&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263523</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001792" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001792</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001792" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001792</a>]</span><br /> -
Thickened nails <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111982005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111982005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52897009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52897009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q84.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q84.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L60.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L60.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263537&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263537</a>, <a href="https://bioportal.bioontology.org/search?q=C0240444&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240444</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001805" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001805</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001805" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001805</a>]</span><br />
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<div>
<span class="h5 mim-font">
<em> Hair </em>
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<div style="margin-left: 2em;">
<span class="mim-font">
- Sparse, fine hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849393&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849393</a>]</span><br /> -
Pili canaliculi <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860608&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860608</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002235" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002235</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002235" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002235</a>]</span><br /> -
Progressive alopecia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851885&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851885</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002287" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002287</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002287" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002287</a>]</span><br /> -
Absent lateral one-third of eyebrow <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851882&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851882</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Hyperthermia in early childhood<br /> -
Allelic to ADULT syndrome (<a href="/entry/103285">103285</a>), SHFM4 (<a href="/entry/605289">605289</a>), Hay-Wells syndrome (<a href="/entry/106260">106260</a>), and limb-mammary syndrome (<a href="/entry/603543">603543</a>)<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the tumor protein p63 gene (TP63, <a href="/entry/603273#0007">603273.0007</a>)<br />
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<p>A number sign (#) is used with this entry because of evidence that Rapp-Hodgkin syndrome (RHS) is caused by heterozygous mutation in the TP63 gene (<a href="/entry/603273">603273</a>) on chromosome 3q28.</p><p>Allelic disorders with overlapping features include EEC3 (<a href="/entry/604292">604292</a>), limb-mammary syndrome (LMS; <a href="/entry/603543">603543</a>), ADULT syndrome (<a href="/entry/103285">103285</a>), AEC syndrome (<a href="/entry/106260">106260</a>), and SHFM4 (<a href="/entry/605289">605289</a>).</p>
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<strong>Description</strong>
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<p>Rapp-Hodgkin syndrome (RHS) is characterized by anhidrotic ectodermal dysplasia and cleft lip/palate. Patients have characteristic facies (narrow nose and small mouth), wiry, slow growing, and uncombable hair, sparse eyelashes and eyebrows, obstructed lacrimal puncta/epiphora, bilateral stenosis of external auditory canals, microsomia, hypodontia, cone-shaped incisors, enamel hypoplasia, and dystrophic nails (summary by <a href="#7" class="mim-tip-reference" title="Kantaputra, P. N., Hamada, T., Kumchai, T., McGrath, J. A. &lt;strong&gt;Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia.&lt;/strong&gt; J. Dent. Res. 82: 433-437, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12766194/&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;12766194&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1177/154405910308200606&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="12766194">Kantaputra et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12766194" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p><a href="#11" class="mim-tip-reference" title="Rapp, R. S., Hodgkin, W. E. &lt;strong&gt;Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies.&lt;/strong&gt; J. Med. Genet. 5: 269-272, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5713637/&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;5713637&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.5.4.269&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="5713637">Rapp and Hodgkin (1968)</a> described mother, son, and daughter with anhidrotic ectodermal dysplasia, cleft lip, and cleft palate. The combination had not previously been recorded. The nose was unusually narrow and the mouth small. Similar cases were reported by <a href="#18" class="mim-tip-reference" title="Summitt, R. L., Hiatt, R. L. &lt;strong&gt;Hypohidrotic ectodermal dysplasia with multiple associated anomalies.&lt;/strong&gt; Birth Defects Orig. Art. Ser. 7(8): 121-124, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5173255/&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;5173255&lt;/a&gt;]" pmid="5173255">Summitt and Hiatt (1971)</a> and <a href="#20" class="mim-tip-reference" title="Wannarachue, N., Hall, B. D., Smith, D. W. &lt;strong&gt;Ectodermal dysplasia and multiple defects (Rapp-Hodgkin type). (Letter)&lt;/strong&gt; J. Pediat. 81: 1217-1218, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4643047/&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;4643047&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(72)80273-7&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="4643047">Wannarachue et al. (1972)</a>. <a href="#16" class="mim-tip-reference" title="Silengo, M. C., Davi, G. F., Bianco, R., Costa, M., De Marco, A., Verona, R., Franceschini, P. &lt;strong&gt;Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome.&lt;/strong&gt; Clin. Genet. 21: 297-300, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7116674/&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;7116674&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1982.tb01375.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="7116674">Silengo et al. (1982)</a> reported affected mother and daughter. The child had pili torti; the scalp hair was coarse, dry, and wiry. Microscopically, it showed twisting. The mother, who was bald, had had similar hair as a child. The same family was reported by <a href="#17" class="mim-tip-reference" title="Stasiowska, B., Sartoris, S., Goitre, M., Benso, L. &lt;strong&gt;Rapp-Hodgkin ectodermal dysplasia syndrome.&lt;/strong&gt; Arch. Dis. Child. 56: 793-795, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7305420/&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;7305420&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/adc.56.10.793&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="7305420">Stasiowska et al. (1981)</a>. <a href="#9" class="mim-tip-reference" title="Montes-G, M., Salinas, C. F. &lt;strong&gt;Rapp-Hodgkin syndrome. (Abstract)&lt;/strong&gt; 7th International Congress of Human Genetics, Berlin 1986. P. 273."None>Montes-G and Salinas (1986)</a> reported 2 families: in one, the mother and 2 daughters by different fathers were affected; in the other, 5 persons in 4 generations were affected, with male-to-male transmission. Characteristics of the hair were detailed. Hypodontia, changes in the fingernails, and hypospadias in males are also features. <a href="#13" class="mim-tip-reference" title="Salinas, C. F., Montes-G, G. M. &lt;strong&gt;Rapp-Hodgkin syndrome: observations on ten cases and characteristic hair changes (pili canaliculi).&lt;/strong&gt; Birth Defects Orig. Art. Ser. 24: 149-168, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3179424/&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;3179424&lt;/a&gt;]" pmid="3179424">Salinas and Montes-G (1988)</a> gave further information on 6 personally examined patients with RHS plus 4 additional family members with documentation strongly suggesting that they were affected. Submucous cleft or cleft of the uvula was found in some. The hair was uncombable and wiry and progressed to alopecia in adulthood. Ptosis, atretic ear canals, and dysplastic eustachian orifices were also described as possible features. They claimed to have observed male-to-male transmission for the first time. They suggested that the characteristic hair change is pili canaliculi; under the scanning electron microscope and polarizing microscope, hairs showed canal-like depressions running the length of the axis. <a href="#15" class="mim-tip-reference" title="Schroeder, H. W., Jr., Sybert, V. P. &lt;strong&gt;Rapp-Hodgkin ectodermal dysplasia.&lt;/strong&gt; J. Pediat. 110: 72-75, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3794888/&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;3794888&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(87)80291-3&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="3794888">Schroeder and Sybert (1987)</a> described a case. <a href="#14" class="mim-tip-reference" title="Santos, H., Cordeiro, M. J. G., Faro Viana, I., Cordeiro, I., Colarinha, J., Rodrigues, M. L. &lt;strong&gt;Rapp-Hodgkin ectodermal dysplasia.&lt;/strong&gt; Acta Paediat. Scand. 79: 245-247, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2321488/&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;2321488&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1651-2227.1990.tb11450.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="2321488">Santos et al. (1990)</a> described a case of apparent new mutation. <a href="#12" class="mim-tip-reference" title="Rodini, E. O. S., Freitas, J. A. S., Richieri-Costa, A. &lt;strong&gt;Rapp-Hodgkin syndrome: report of a Brazilian family.&lt;/strong&gt; Am. J. Med. Genet. 36: 463-466, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2389804/&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;2389804&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320360418&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="2389804">Rodini et al. (1990)</a> observed 11 affected persons in 4 generations of a Brazilian family. Severity ranged from isolated trichodysplasia (sparse, brittle, and dry hair) to the full-blown picture. Tear duct anomalies were present in several. <a href="#4" class="mim-tip-reference" title="Breslau-Siderius, E. J., Lavrijsen, A. P. M., Otten, F. W. A., van der Schroeff, J. G., Swart, J. G. N. &lt;strong&gt;The Rapp-Hodgkin syndrome.&lt;/strong&gt; Am. J. Med. Genet. 38: 107-110, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2012121/&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;2012121&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320380124&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="2012121">Breslau-Siderius et al. (1991)</a> reported a Dutch family with 4 affected persons in 3 generations. <a href="#19" class="mim-tip-reference" title="Walpole, I. R., Goldblatt, J. &lt;strong&gt;Rapp-Hodgkin hypohidrotic ectodermal dysplasia syndrome.&lt;/strong&gt; Clin. Genet. 39: 114-120, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2015692/&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;2015692&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1991.tb02996.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="2015692">Walpole and Goldblatt (1991)</a> described the clinical features in 4 members of a 3-generation family with Rapp-Hodgkin hypohidrotic ectodermal dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5713637+2321488+2389804+3794888+4643047+3179424+7305420+2012121+2015692+7116674+5173255" 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="Moerman, P., Fryns, J.-P. &lt;strong&gt;Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child.&lt;/strong&gt; Am. J. Med. Genet. 63: 479-481, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8737656/&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;8737656&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1096-8628(19960614)63:3&lt;479::AID-AJMG12&gt;3.0.CO;2-J&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="8737656">Moerman and Fryns (1996)</a> described a mother with manifestations consistent with the Rapp-Hodgkin type of ectodermal dysplasia and her malformed newborn son with ectrodactyly, ectodermal dysplasia, cleft palate, and bilateral cystic and obstructive ureteroceles with hydroureters and cystic renal dysplasia as described in the EEC syndrome (EEC1; <a href="/entry/129900">129900</a>). They suggested that these may be fundamentally the same disorder. The newborn died at 1 day of age. Autopsy demonstrated severe pulmonary hypoplasia. The baby also showed filiform adhesions of the eyelids (ankyloblepharon filiforme adnatum). The association of ankyloblepharon, ectodermal defects, and clefting (<a href="/entry/106260">106260</a>) is referred to as the AEC syndrome or Hay-Wells syndrome. See also <a href="/entry/106250">106250</a> for the association of ankyloblepharon with cleft palate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8737656" 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>The transmission pattern of RHS in the family reported by <a href="#7" class="mim-tip-reference" title="Kantaputra, P. N., Hamada, T., Kumchai, T., McGrath, J. A. &lt;strong&gt;Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia.&lt;/strong&gt; J. Dent. Res. 82: 433-437, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12766194/&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;12766194&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1177/154405910308200606&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="12766194">Kantaputra et al. (2003)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12766194" 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>In a 14-year-old Thai boy diagnosed with Rapp-Hodgkin syndrome, who had the characteristic facies, microsomia, obstructed lacrimal puncta, and palmoplantar keratoderma but no ankyloblepharon, <a href="#7" class="mim-tip-reference" title="Kantaputra, P. N., Hamada, T., Kumchai, T., McGrath, J. A. &lt;strong&gt;Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia.&lt;/strong&gt; J. Dent. Res. 82: 433-437, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12766194/&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;12766194&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1177/154405910308200606&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="12766194">Kantaputra et al. (2003)</a> identified heterozygosity for a missense mutation (S545P; <a href="/entry/603273#0019">603273.0019</a>) in the TP63 gene. <a href="#7" class="mim-tip-reference" title="Kantaputra, P. N., Hamada, T., Kumchai, T., McGrath, J. A. &lt;strong&gt;Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia.&lt;/strong&gt; J. Dent. Res. 82: 433-437, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12766194/&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;12766194&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1177/154405910308200606&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="12766194">Kantaputra et al. (2003)</a> stated that this was the first genetic abnormality to be described in RHS, and noted that this provides molecular data to support the clinically observed overlap between EEC, AEC, and RHS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12766194" 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 2 unrelated patients with features consistent with Rapp-Hodgkin syndrome, <a href="#3" class="mim-tip-reference" title="Bougeard, G., Hadj-Rabia, S., Faivre, L., Sarafan-Vasseur, N., Frebourg, T. &lt;strong&gt;The Rapp-Hodgkin syndrome results from mutations of the TP63 gene.&lt;/strong&gt; Europ. J. Hum. Genet. 11: 700-704, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12939657/&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;12939657&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5201004&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="12939657">Bougeard et al. (2003)</a> identified heterozygosity for mutations in the TP63 gene, R279H (<a href="/entry/603273#0007">603273.0007</a>) and 1709delA (<a href="/entry/603273#0016">603273.0016</a>), respectively. The R279H mutation had previously been found in 4 families with EEC3 (<a href="/entry/604292">604292</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12939657" 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 2 sibs and their mother who had been diagnosed with RHS, <a href="#5" class="mim-tip-reference" title="Dianzani, I., Garelli, E., Gustavsson, P., Carando, A., Gustafsson, B., Dahl, N., Anneren, G. &lt;strong&gt;Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene.&lt;/strong&gt; J. Med. Genet. 40: e133, 2003. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14684701/&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;14684701&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.40.12.e133&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="14684701">Dianzani et al. (2003)</a> identified a 1-bp deletion in the TP63 gene (<a href="/entry/603273#0017">603273.0017</a>). The mother's clinical history revealed that she had a slight ankyloblepharon on the right eye at birth which was surgically treated; <a href="#5" class="mim-tip-reference" title="Dianzani, I., Garelli, E., Gustavsson, P., Carando, A., Gustafsson, B., Dahl, N., Anneren, G. &lt;strong&gt;Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene.&lt;/strong&gt; J. Med. Genet. 40: e133, 2003. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14684701/&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;14684701&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.40.12.e133&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="14684701">Dianzani et al. (2003)</a> suggested that AEC and RHS are the same clinical entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14684701" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with AEC previously described by <a href="#2" class="mim-tip-reference" title="Bertola, D. R., Kim, C. A., Sugayama, S. M. M., Albano, L. M. J., Utagawa, C. Y., Gonzalez, C. H. &lt;strong&gt;AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias.&lt;/strong&gt; Pediat. Derm. 17: 218-221, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10886756/&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;10886756&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1525-1470.2000.01756.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="10886756">Bertola et al. (2000)</a>, <a href="#1" class="mim-tip-reference" title="Bertola, D. R., Kim, C. A., Albano, L. M. J., Scheffer, H., Meijer, R., van Bokhoven, H. &lt;strong&gt;Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. (Letter)&lt;/strong&gt; Clin. Genet. 66: 79-80, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15200513/&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;15200513&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.0009-9163.2004.00278.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="15200513">Bertola et al. (2004)</a> identified an ile510-to-thr mutation in the TP63 gene (<a href="/entry/603273#0018">603273.0018</a>). They identified the same mutation in a patient with RHS and concluded that AEC and RHS represent variable expression of a single genetic disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10886756+15200513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 42-year-old woman and her mother, who had Rapp-Hodgkin syndrome associated with Groenouw-type corneal dystrophy (see <a href="/entry/121900">121900</a>) and premature menopause at ages 28 and 35 years, respectively, <a href="#6" class="mim-tip-reference" title="Holder-Espinasse, M., Martin-Coignard, D., Escande, F., Manouvrier-Hanu, S. &lt;strong&gt;A new mutation in TP63 is associated with age-related pathology.&lt;/strong&gt; Europ. J. Hum. Genet. 15: 1115-1120, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17609671/&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;17609671&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5201888&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="17609671">Holder-Espinasse et al. (2007)</a> identified heterozygosity for a 1-bp deletion in the TP63 gene (<a href="/entry/603273#0025">603273.0025</a>). The affected maternal grandmother had premature menopause at 28 years of age, and an affected deceased older sister also had Groenouw-type corneal dystrophy. The authors stated that this was the first report of these additional age-related features in RHS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17609671" 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 an 11-year-old boy who displayed an overlapping phenotype with features of both AEC and RHS, <a href="#10" class="mim-tip-reference" title="Prontera, P., Escande, F., Cocchi, G., Donti, E., Martini, A., Sensi, A. &lt;strong&gt;An intermediate phenotype between Hays-Wells and Rapp-Hodgkin syndromes in a patient with a novel p63 mutation: confirmation of a variable phenotypic spectrum with a common aetiology.&lt;/strong&gt; Genet. Counsel. 19: 397-402, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19239083/&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;19239083&lt;/a&gt;]" pmid="19239083">Prontera et al. (2008)</a> identified heterozygosity for an 11-bp duplication in the TP63 gene (<a href="/entry/603273#0027">603273.0027</a>). The authors stated that their findings confirmed the hypothesis that AEC and RHS are variable expressions of a single genetic disorder, and suggested that intermediate phenotypes are possible. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19239083" 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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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<a id="1" class="mim-anchor"></a>
<a id="Bertola2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bertola, D. R., Kim, C. A., Albano, L. M. J., Scheffer, H., Meijer, R., van Bokhoven, H.
<strong>Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. (Letter)</strong>
Clin. Genet. 66: 79-80, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15200513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15200513</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15200513" 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.0009-9163.2004.00278.x" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="Bertola2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bertola, D. R., Kim, C. A., Sugayama, S. M. M., Albano, L. M. J., Utagawa, C. Y., Gonzalez, C. H.
<strong>AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias.</strong>
Pediat. Derm. 17: 218-221, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10886756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10886756</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10886756" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1046/j.1525-1470.2000.01756.x" target="_blank">Full Text</a>]
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<a id="Bougeard2003" class="mim-anchor"></a>
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Bougeard, G., Hadj-Rabia, S., Faivre, L., Sarafan-Vasseur, N., Frebourg, T.
<strong>The Rapp-Hodgkin syndrome results from mutations of the TP63 gene.</strong>
Europ. J. Hum. Genet. 11: 700-704, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12939657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12939657</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12939657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/sj.ejhg.5201004" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
<a id="Breslau-Siderius1991" class="mim-anchor"></a>
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Breslau-Siderius, E. J., Lavrijsen, A. P. M., Otten, F. W. A., van der Schroeff, J. G., Swart, J. G. N.
<strong>The Rapp-Hodgkin syndrome.</strong>
Am. J. Med. Genet. 38: 107-110, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2012121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2012121</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2012121" 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.1320380124" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
<a id="Dianzani2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dianzani, I., Garelli, E., Gustavsson, P., Carando, A., Gustafsson, B., Dahl, N., Anneren, G.
<strong>Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene.</strong>
J. Med. Genet. 40: e133, 2003. Note: Electronic Article.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14684701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14684701</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14684701" 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.40.12.e133" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
<a id="Holder-Espinasse2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Holder-Espinasse, M., Martin-Coignard, D., Escande, F., Manouvrier-Hanu, S.
<strong>A new mutation in TP63 is associated with age-related pathology.</strong>
Europ. J. Hum. Genet. 15: 1115-1120, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17609671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17609671</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17609671" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/sj.ejhg.5201888" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
<a id="Kantaputra2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kantaputra, P. N., Hamada, T., Kumchai, T., McGrath, J. A.
<strong>Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia.</strong>
J. Dent. Res. 82: 433-437, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12766194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12766194</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12766194" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1177/154405910308200606" target="_blank">Full Text</a>]
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<a id="Moerman1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Moerman, P., Fryns, J.-P.
<strong>Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child.</strong>
Am. J. Med. Genet. 63: 479-481, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8737656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8737656</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8737656" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(SICI)1096-8628(19960614)63:3&lt;479::AID-AJMG12&gt;3.0.CO;2-J" target="_blank">Full Text</a>]
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<a id="Montes-G1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Montes-G, M., Salinas, C. F.
<strong>Rapp-Hodgkin syndrome. (Abstract)</strong>
7th International Congress of Human Genetics, Berlin 1986. P. 273.
</p>
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<li>
<a id="10" class="mim-anchor"></a>
<a id="Prontera2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Prontera, P., Escande, F., Cocchi, G., Donti, E., Martini, A., Sensi, A.
<strong>An intermediate phenotype between Hays-Wells and Rapp-Hodgkin syndromes in a patient with a novel p63 mutation: confirmation of a variable phenotypic spectrum with a common aetiology.</strong>
Genet. Counsel. 19: 397-402, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19239083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19239083</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19239083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="11" class="mim-anchor"></a>
<a id="Rapp1968" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Rapp, R. S., Hodgkin, W. E.
<strong>Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies.</strong>
J. Med. Genet. 5: 269-272, 1968.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5713637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5713637</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5713637" 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.5.4.269" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
<a id="Rodini1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Rodini, E. O. S., Freitas, J. A. S., Richieri-Costa, A.
<strong>Rapp-Hodgkin syndrome: report of a Brazilian family.</strong>
Am. J. Med. Genet. 36: 463-466, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2389804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2389804</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2389804" 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.1320360418" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
<a id="Salinas1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Salinas, C. F., Montes-G, G. M.
<strong>Rapp-Hodgkin syndrome: observations on ten cases and characteristic hair changes (pili canaliculi).</strong>
Birth Defects Orig. Art. Ser. 24: 149-168, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3179424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3179424</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3179424" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="14" class="mim-anchor"></a>
<a id="Santos1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Santos, H., Cordeiro, M. J. G., Faro Viana, I., Cordeiro, I., Colarinha, J., Rodrigues, M. L.
<strong>Rapp-Hodgkin ectodermal dysplasia.</strong>
Acta Paediat. Scand. 79: 245-247, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2321488/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2321488</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2321488" 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.1651-2227.1990.tb11450.x" target="_blank">Full Text</a>]
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<a id="15" class="mim-anchor"></a>
<a id="Schroeder1987" class="mim-anchor"></a>
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<p class="mim-text-font">
Schroeder, H. W., Jr., Sybert, V. P.
<strong>Rapp-Hodgkin ectodermal dysplasia.</strong>
J. Pediat. 110: 72-75, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3794888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3794888</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3794888" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(87)80291-3" target="_blank">Full Text</a>]
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<a id="Silengo1982" class="mim-anchor"></a>
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Silengo, M. C., Davi, G. F., Bianco, R., Costa, M., De Marco, A., Verona, R., Franceschini, P.
<strong>Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome.</strong>
Clin. Genet. 21: 297-300, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7116674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7116674</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7116674" 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.1399-0004.1982.tb01375.x" target="_blank">Full Text</a>]
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<a id="Stasiowska1981" class="mim-anchor"></a>
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Stasiowska, B., Sartoris, S., Goitre, M., Benso, L.
<strong>Rapp-Hodgkin ectodermal dysplasia syndrome.</strong>
Arch. Dis. Child. 56: 793-795, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7305420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7305420</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7305420" 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/adc.56.10.793" target="_blank">Full Text</a>]
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<a id="Summitt1971" class="mim-anchor"></a>
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Summitt, R. L., Hiatt, R. L.
<strong>Hypohidrotic ectodermal dysplasia with multiple associated anomalies.</strong>
Birth Defects Orig. Art. Ser. 7(8): 121-124, 1971.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5173255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5173255</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5173255" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Walpole1991" class="mim-anchor"></a>
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Walpole, I. R., Goldblatt, J.
<strong>Rapp-Hodgkin hypohidrotic ectodermal dysplasia syndrome.</strong>
Clin. Genet. 39: 114-120, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2015692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2015692</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2015692" 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.1399-0004.1991.tb02996.x" target="_blank">Full Text</a>]
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<a id="Wannarachue1972" class="mim-anchor"></a>
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Wannarachue, N., Hall, B. D., Smith, D. W.
<strong>Ectodermal dysplasia and multiple defects (Rapp-Hodgkin type). (Letter)</strong>
J. Pediat. 81: 1217-1218, 1972.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4643047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4643047</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4643047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(72)80273-7" target="_blank">Full Text</a>]
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<a id="contributors" class="mim-anchor"></a>
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Marla J. F. O'Neill - updated : 6/9/2010
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Marla J. F. O'Neill - updated : 7/18/2008<br>Marla J. F. O'Neill - updated : 9/29/2005<br>Marla J. F. O'Neill - updated : 8/4/2005<br>Marla J. F. O'Neill - updated : 5/5/2005
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Victor A. McKusick : 6/4/1986
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carol : 12/14/2023
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<h3>
<span class="mim-font">
<strong>#</strong> 129400
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<span class="mim-font">
RAPP-HODGKIN SYNDROME; RHS
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<em>Alternative titles; symbols</em>
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ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATE
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<strong>SNOMEDCT:</strong> 7731005; &nbsp;
<strong>ORPHA:</strong> 141291, 199302, 199306, 3022; &nbsp;
<strong>DO:</strong> 0060330; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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3q28
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Rapp-Hodgkin syndrome
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129400
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Autosomal dominant
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3
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TP63
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603273
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Rapp-Hodgkin syndrome (RHS) is caused by heterozygous mutation in the TP63 gene (603273) on chromosome 3q28.</p><p>Allelic disorders with overlapping features include EEC3 (604292), limb-mammary syndrome (LMS; 603543), ADULT syndrome (103285), AEC syndrome (106260), and SHFM4 (605289).</p>
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<strong>Description</strong>
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<p>Rapp-Hodgkin syndrome (RHS) is characterized by anhidrotic ectodermal dysplasia and cleft lip/palate. Patients have characteristic facies (narrow nose and small mouth), wiry, slow growing, and uncombable hair, sparse eyelashes and eyebrows, obstructed lacrimal puncta/epiphora, bilateral stenosis of external auditory canals, microsomia, hypodontia, cone-shaped incisors, enamel hypoplasia, and dystrophic nails (summary by Kantaputra et al., 2003). </p>
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<strong>Clinical Features</strong>
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<p>Rapp and Hodgkin (1968) described mother, son, and daughter with anhidrotic ectodermal dysplasia, cleft lip, and cleft palate. The combination had not previously been recorded. The nose was unusually narrow and the mouth small. Similar cases were reported by Summitt and Hiatt (1971) and Wannarachue et al. (1972). Silengo et al. (1982) reported affected mother and daughter. The child had pili torti; the scalp hair was coarse, dry, and wiry. Microscopically, it showed twisting. The mother, who was bald, had had similar hair as a child. The same family was reported by Stasiowska et al. (1981). Montes-G and Salinas (1986) reported 2 families: in one, the mother and 2 daughters by different fathers were affected; in the other, 5 persons in 4 generations were affected, with male-to-male transmission. Characteristics of the hair were detailed. Hypodontia, changes in the fingernails, and hypospadias in males are also features. Salinas and Montes-G (1988) gave further information on 6 personally examined patients with RHS plus 4 additional family members with documentation strongly suggesting that they were affected. Submucous cleft or cleft of the uvula was found in some. The hair was uncombable and wiry and progressed to alopecia in adulthood. Ptosis, atretic ear canals, and dysplastic eustachian orifices were also described as possible features. They claimed to have observed male-to-male transmission for the first time. They suggested that the characteristic hair change is pili canaliculi; under the scanning electron microscope and polarizing microscope, hairs showed canal-like depressions running the length of the axis. Schroeder and Sybert (1987) described a case. Santos et al. (1990) described a case of apparent new mutation. Rodini et al. (1990) observed 11 affected persons in 4 generations of a Brazilian family. Severity ranged from isolated trichodysplasia (sparse, brittle, and dry hair) to the full-blown picture. Tear duct anomalies were present in several. Breslau-Siderius et al. (1991) reported a Dutch family with 4 affected persons in 3 generations. Walpole and Goldblatt (1991) described the clinical features in 4 members of a 3-generation family with Rapp-Hodgkin hypohidrotic ectodermal dysplasia. </p><p>Moerman and Fryns (1996) described a mother with manifestations consistent with the Rapp-Hodgkin type of ectodermal dysplasia and her malformed newborn son with ectrodactyly, ectodermal dysplasia, cleft palate, and bilateral cystic and obstructive ureteroceles with hydroureters and cystic renal dysplasia as described in the EEC syndrome (EEC1; 129900). They suggested that these may be fundamentally the same disorder. The newborn died at 1 day of age. Autopsy demonstrated severe pulmonary hypoplasia. The baby also showed filiform adhesions of the eyelids (ankyloblepharon filiforme adnatum). The association of ankyloblepharon, ectodermal defects, and clefting (106260) is referred to as the AEC syndrome or Hay-Wells syndrome. See also 106250 for the association of ankyloblepharon with cleft palate. </p>
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<span class="mim-font">
<strong>Inheritance</strong>
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<p>The transmission pattern of RHS in the family reported by Kantaputra et al. (2003) was consistent with autosomal dominant inheritance. </p>
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<span class="mim-font">
<strong>Molecular Genetics</strong>
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<p>In a 14-year-old Thai boy diagnosed with Rapp-Hodgkin syndrome, who had the characteristic facies, microsomia, obstructed lacrimal puncta, and palmoplantar keratoderma but no ankyloblepharon, Kantaputra et al. (2003) identified heterozygosity for a missense mutation (S545P; 603273.0019) in the TP63 gene. Kantaputra et al. (2003) stated that this was the first genetic abnormality to be described in RHS, and noted that this provides molecular data to support the clinically observed overlap between EEC, AEC, and RHS. </p><p>In 2 unrelated patients with features consistent with Rapp-Hodgkin syndrome, Bougeard et al. (2003) identified heterozygosity for mutations in the TP63 gene, R279H (603273.0007) and 1709delA (603273.0016), respectively. The R279H mutation had previously been found in 4 families with EEC3 (604292). </p><p>In 2 sibs and their mother who had been diagnosed with RHS, Dianzani et al. (2003) identified a 1-bp deletion in the TP63 gene (603273.0017). The mother's clinical history revealed that she had a slight ankyloblepharon on the right eye at birth which was surgically treated; Dianzani et al. (2003) suggested that AEC and RHS are the same clinical entity. </p><p>In a patient with AEC previously described by Bertola et al. (2000), Bertola et al. (2004) identified an ile510-to-thr mutation in the TP63 gene (603273.0018). They identified the same mutation in a patient with RHS and concluded that AEC and RHS represent variable expression of a single genetic disorder. </p><p>In a 42-year-old woman and her mother, who had Rapp-Hodgkin syndrome associated with Groenouw-type corneal dystrophy (see 121900) and premature menopause at ages 28 and 35 years, respectively, Holder-Espinasse et al. (2007) identified heterozygosity for a 1-bp deletion in the TP63 gene (603273.0025). The affected maternal grandmother had premature menopause at 28 years of age, and an affected deceased older sister also had Groenouw-type corneal dystrophy. The authors stated that this was the first report of these additional age-related features in RHS. </p><p>In an 11-year-old boy who displayed an overlapping phenotype with features of both AEC and RHS, Prontera et al. (2008) identified heterozygosity for an 11-bp duplication in the TP63 gene (603273.0027). The authors stated that their findings confirmed the hypothesis that AEC and RHS are variable expressions of a single genetic disorder, and suggested that intermediate phenotypes are possible. </p>
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<h4>
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<strong>REFERENCES</strong>
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<p class="mim-text-font">
Bertola, D. R., Kim, C. A., Albano, L. M. J., Scheffer, H., Meijer, R., van Bokhoven, H.
<strong>Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. (Letter)</strong>
Clin. Genet. 66: 79-80, 2004.
[PubMed: 15200513]
[Full Text: https://doi.org/10.1111/j.0009-9163.2004.00278.x]
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<li>
<p class="mim-text-font">
Bertola, D. R., Kim, C. A., Sugayama, S. M. M., Albano, L. M. J., Utagawa, C. Y., Gonzalez, C. H.
<strong>AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias.</strong>
Pediat. Derm. 17: 218-221, 2000.
[PubMed: 10886756]
[Full Text: https://doi.org/10.1046/j.1525-1470.2000.01756.x]
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<li>
<p class="mim-text-font">
Bougeard, G., Hadj-Rabia, S., Faivre, L., Sarafan-Vasseur, N., Frebourg, T.
<strong>The Rapp-Hodgkin syndrome results from mutations of the TP63 gene.</strong>
Europ. J. Hum. Genet. 11: 700-704, 2003.
[PubMed: 12939657]
[Full Text: https://doi.org/10.1038/sj.ejhg.5201004]
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<li>
<p class="mim-text-font">
Breslau-Siderius, E. J., Lavrijsen, A. P. M., Otten, F. W. A., van der Schroeff, J. G., Swart, J. G. N.
<strong>The Rapp-Hodgkin syndrome.</strong>
Am. J. Med. Genet. 38: 107-110, 1991.
[PubMed: 2012121]
[Full Text: https://doi.org/10.1002/ajmg.1320380124]
</p>
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<li>
<p class="mim-text-font">
Dianzani, I., Garelli, E., Gustavsson, P., Carando, A., Gustafsson, B., Dahl, N., Anneren, G.
<strong>Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene.</strong>
J. Med. Genet. 40: e133, 2003. Note: Electronic Article.
[PubMed: 14684701]
[Full Text: https://doi.org/10.1136/jmg.40.12.e133]
</p>
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<li>
<p class="mim-text-font">
Holder-Espinasse, M., Martin-Coignard, D., Escande, F., Manouvrier-Hanu, S.
<strong>A new mutation in TP63 is associated with age-related pathology.</strong>
Europ. J. Hum. Genet. 15: 1115-1120, 2007.
[PubMed: 17609671]
[Full Text: https://doi.org/10.1038/sj.ejhg.5201888]
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<p class="mim-text-font">
Kantaputra, P. N., Hamada, T., Kumchai, T., McGrath, J. A.
<strong>Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia.</strong>
J. Dent. Res. 82: 433-437, 2003.
[PubMed: 12766194]
[Full Text: https://doi.org/10.1177/154405910308200606]
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<p class="mim-text-font">
Moerman, P., Fryns, J.-P.
<strong>Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child.</strong>
Am. J. Med. Genet. 63: 479-481, 1996.
[PubMed: 8737656]
[Full Text: https://doi.org/10.1002/(SICI)1096-8628(19960614)63:3&lt;479::AID-AJMG12&gt;3.0.CO;2-J]
</p>
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<li>
<p class="mim-text-font">
Montes-G, M., Salinas, C. F.
<strong>Rapp-Hodgkin syndrome. (Abstract)</strong>
7th International Congress of Human Genetics, Berlin 1986. P. 273.
</p>
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<li>
<p class="mim-text-font">
Prontera, P., Escande, F., Cocchi, G., Donti, E., Martini, A., Sensi, A.
<strong>An intermediate phenotype between Hays-Wells and Rapp-Hodgkin syndromes in a patient with a novel p63 mutation: confirmation of a variable phenotypic spectrum with a common aetiology.</strong>
Genet. Counsel. 19: 397-402, 2008.
[PubMed: 19239083]
</p>
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<li>
<p class="mim-text-font">
Rapp, R. S., Hodgkin, W. E.
<strong>Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies.</strong>
J. Med. Genet. 5: 269-272, 1968.
[PubMed: 5713637]
[Full Text: https://doi.org/10.1136/jmg.5.4.269]
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<li>
<p class="mim-text-font">
Rodini, E. O. S., Freitas, J. A. S., Richieri-Costa, A.
<strong>Rapp-Hodgkin syndrome: report of a Brazilian family.</strong>
Am. J. Med. Genet. 36: 463-466, 1990.
[PubMed: 2389804]
[Full Text: https://doi.org/10.1002/ajmg.1320360418]
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<li>
<p class="mim-text-font">
Salinas, C. F., Montes-G, G. M.
<strong>Rapp-Hodgkin syndrome: observations on ten cases and characteristic hair changes (pili canaliculi).</strong>
Birth Defects Orig. Art. Ser. 24: 149-168, 1988.
[PubMed: 3179424]
</p>
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<li>
<p class="mim-text-font">
Santos, H., Cordeiro, M. J. G., Faro Viana, I., Cordeiro, I., Colarinha, J., Rodrigues, M. L.
<strong>Rapp-Hodgkin ectodermal dysplasia.</strong>
Acta Paediat. Scand. 79: 245-247, 1990.
[PubMed: 2321488]
[Full Text: https://doi.org/10.1111/j.1651-2227.1990.tb11450.x]
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<li>
<p class="mim-text-font">
Schroeder, H. W., Jr., Sybert, V. P.
<strong>Rapp-Hodgkin ectodermal dysplasia.</strong>
J. Pediat. 110: 72-75, 1987.
[PubMed: 3794888]
[Full Text: https://doi.org/10.1016/s0022-3476(87)80291-3]
</p>
</li>
<li>
<p class="mim-text-font">
Silengo, M. C., Davi, G. F., Bianco, R., Costa, M., De Marco, A., Verona, R., Franceschini, P.
<strong>Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome.</strong>
Clin. Genet. 21: 297-300, 1982.
[PubMed: 7116674]
[Full Text: https://doi.org/10.1111/j.1399-0004.1982.tb01375.x]
</p>
</li>
<li>
<p class="mim-text-font">
Stasiowska, B., Sartoris, S., Goitre, M., Benso, L.
<strong>Rapp-Hodgkin ectodermal dysplasia syndrome.</strong>
Arch. Dis. Child. 56: 793-795, 1981.
[PubMed: 7305420]
[Full Text: https://doi.org/10.1136/adc.56.10.793]
</p>
</li>
<li>
<p class="mim-text-font">
Summitt, R. L., Hiatt, R. L.
<strong>Hypohidrotic ectodermal dysplasia with multiple associated anomalies.</strong>
Birth Defects Orig. Art. Ser. 7(8): 121-124, 1971.
[PubMed: 5173255]
</p>
</li>
<li>
<p class="mim-text-font">
Walpole, I. R., Goldblatt, J.
<strong>Rapp-Hodgkin hypohidrotic ectodermal dysplasia syndrome.</strong>
Clin. Genet. 39: 114-120, 1991.
[PubMed: 2015692]
[Full Text: https://doi.org/10.1111/j.1399-0004.1991.tb02996.x]
</p>
</li>
<li>
<p class="mim-text-font">
Wannarachue, N., Hall, B. D., Smith, D. W.
<strong>Ectodermal dysplasia and multiple defects (Rapp-Hodgkin type). (Letter)</strong>
J. Pediat. 81: 1217-1218, 1972.
[PubMed: 4643047]
[Full Text: https://doi.org/10.1016/s0022-3476(72)80273-7]
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Marla J. F. O&#x27;Neill - updated : 6/9/2010<br>Marla J. F. O&#x27;Neill - updated : 7/18/2008<br>Marla J. F. O&#x27;Neill - updated : 9/29/2005<br>Marla J. F. O&#x27;Neill - updated : 8/4/2005<br>Marla J. F. O&#x27;Neill - updated : 5/5/2005
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Victor A. McKusick : 6/4/1986
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