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<title>
Entry
- #225410 - EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE; EDSDERMS
- OMIM
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<span class="h4">#225410</span>
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<strong>Table of Contents</strong>
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<li role="presentation">
<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
<a href="/clinicalSynopsis/225410"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
<a href="/phenotypicSeries/PS130000"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#pathogenesis">Pathogenesis</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#nomenclature">Nomenclature</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9660;</div>
&nbsp;
<div style="display: table-cell;">Clinical Resources</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=(EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE) OR (ADAMTS2)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=4045&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
<div><a href="https://www.diseaseinfosearch.org/x/2485" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=225410[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1901" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/264aa3a7-d929-445d-8aa1-3d61cbadcd5e/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 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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<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:0080733" 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/225410" 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/results?search_type=advanced&omia_id=000327,000328" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</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="mimCellLines">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:225410" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
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</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> 1237225007<br />
<strong>ORPHA:</strong> 1901<br />
<strong>DO:</strong> 0080733<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>
225410
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE; EDSDERMS
</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">
DERMATOSPARAXIS<br />
EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE<br />
EDS VIIC<br />
EDS7C
</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/5/829?start=-3&limit=10&highlight=829">
5q35.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Ehlers-Danlos syndrome, dermatosparaxis type
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/225410"> 225410 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
ADAMTS2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604539"> 604539 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/225410" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS130000" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
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</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/225410" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/225410" 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 recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> 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> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Large anterior fontanel <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866134</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000260</a>]</span><br /> -
Delayed closure anterior fontanel <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/295091000119100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">295091000119100</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3840083&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3840083</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001476" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001476</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001476" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001476</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Micrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Micrognathia-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882&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 /> -
Recurrent mandibular subluxations <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857011&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857011</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005332</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005332</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">
- Blue sclerae <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204164000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0542514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0542514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000592" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000592</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000592" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000592</a>]</span><br /> -
Epicanthal folds <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74824007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74824007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0678230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0678230</a>, <a href="https://bioportal.bioontology.org/search?q=C0229249&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0229249</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span><br /> -
Blepharochalasis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/47704002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">47704002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.34" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.34</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005742&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005742</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010749" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010749</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010749" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010749</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bead8b3f269abce9018cf8e65fea906a" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Blepharochalasis-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=bead8b3f269abce9018cf8e65fea906a&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 /> -
Downslanting palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246800008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246800008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423110&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423110</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span><br /> -
Puffy eyelids <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193967004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193967004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/89091004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">89091004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.84</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.82</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0560024&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0560024</a>, <a href="https://bioportal.bioontology.org/search?q=C0162285&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162285</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100540</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100540</a>]</span><br /> -
Myopia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57190000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57190000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H52.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H52.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/367.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">367.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027092&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027092</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</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">
- Frontal open bite <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857012&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857012</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200094" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200094</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200094" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200094</a>]</span><br /> -
Gingival hyperplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/441798003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">441798003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017566&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017566</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000212" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000212</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000212" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000212</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=e4e28205bf42ed5b9f7c80e5ea624dec" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Gingival_Overgrowth-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=e4e28205bf42ed5b9f7c80e5ea624dec&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 /> -
Gingival hyperkeratosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857013&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857013</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000222" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000222</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000222" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000222</a>]</span><br /> -
Gingival bleeding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86276007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86276007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017565&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017565</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000225" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000225</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000225" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000225</a>]</span><br /> -
Excessive buccal mucosa <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857014&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857014</a>]</span><br /> -
Prominent lips <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836543</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012471" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012471</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012471" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012471</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 /> -
Tooth discoloration <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/234978004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">234978004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162561004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162561004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278679009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278679009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K03.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K03.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040434&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040434</a>]</span><br /> -
Deciduous molars show abnormal morphology <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857015&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857015</a>]</span><br /> -
Deciduous dentition shows enamel attrition <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857016&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857016</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Lung </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Neonatal pneumothorax <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4761015&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4761015</a>, <a href="https://bioportal.bioontology.org/search?q=C1857021&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857021</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004876" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004876</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004876" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004876</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Features </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Umbilical hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396347007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396347007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K42.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K42.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/553.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">553.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019322&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019322</a>, <a href="https://bioportal.bioontology.org/search?q=C0041636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001537</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001537</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">
- Inguinal hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396232000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396232000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K40.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40.90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/550" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">550</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019294&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019294</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Joint laxity, marked <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857017&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857017</a>]</span><br /> -
Osteopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/312894000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">312894000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029453</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000938</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000938</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239399&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239399</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009826" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009826</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009826" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009826</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short fingers <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249765007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249765007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239594&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239594</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009381" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009381</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009381" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009381</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short toes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836195&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836195</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001831" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001831</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001831" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001831</a>]</span><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">
- Skin fragility <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247427007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247427007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241181&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241181</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001030</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001030</a>]</span><br /> -
Easy bruisability <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/425075004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">425075004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/424131007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">424131007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423798&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423798</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000978" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000978</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000978" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000978</a>]</span><br /> -
Soft, doughy skin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849043&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849043</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001027</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001027</a>]</span><br /> -
Sagging, redundant skin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/201093004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">201093004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0581342&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0581342</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001582" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001582</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001582" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001582</a>]</span><br /> -
Normal wound healing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863751&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863751</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Electron Microscopy </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Collagen fibrils show hieroglyphic pattern <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857019&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857019</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hirsutism, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857020&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857020</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399939002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399939002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L68.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L68.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/704.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.1</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001007</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Delayed motor milestones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854301</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> PRENATAL MANIFESTATIONS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Delivery </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Premature rupture of membranes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44223004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44223004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/O42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O42</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/658.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">658.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2114497&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2114497</a>, <a href="https://bioportal.bioontology.org/search?q=C0015944&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015944</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001788" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001788</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001788" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001788</a>]</span><br /> -
Premature delivery <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/282020008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">282020008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/161765003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">161765003</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/644.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">644.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151526&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151526</a>, <a href="https://bioportal.bioontology.org/search?q=C0438076&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0438076</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001622</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001622</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Internal organ rupture may occur<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutations in the procollagen I N-proteinase gene (ADAMTS2, <a href="/entry/604539#0001">604539.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Ehlers-Danlos syndrome
- <a href="/phenotypicSeries/PS130000">PS130000</a>
- 23 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/33?start=-3&limit=10&highlight=33"> 1p36.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615349"> Ehlers-Danlos syndrome, spondylodysplastic type, 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615349"> 615349 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615291"> B3GALT6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615291"> 615291 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/162?start=-3&limit=10&highlight=162"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/225400"> Ehlers-Danlos syndrome, kyphoscoliotic type, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/225400"> 225400 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/153454"> PLOD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/153454"> 153454 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/854?start=-3&limit=10&highlight=854"> 2q32.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/130050"> Ehlers-Danlos syndrome, vascular type </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/130050"> 130050 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120180"> COL3A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120180"> 120180 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/855?start=-3&limit=10&highlight=855"> 2q32.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/130010"> Ehlers-Danlos syndrome, classic type, 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/130010"> 130010 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120190"> COL5A2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120190"> 120190 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/523?start=-3&limit=10&highlight=523"> 4q27 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614170"> Brittle cornea syndrome 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614170"> 614170 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614161"> PRDM5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614161"> 614161 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/817?start=-3&limit=10&highlight=817"> 5q35.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/130070"> Ehlers-Danlos syndrome, spondylodysplastic type, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/130070"> 130070 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604327"> B4GALT7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604327"> 604327 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/829?start=-3&limit=10&highlight=829"> 5q35.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/225410"> Ehlers-Danlos syndrome, dermatosparaxis type </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/225410"> 225410 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604539"> ADAMTS2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604539"> 604539 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/351?start=-3&limit=10&highlight=351"> 6p21.33-p21.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606408"> Ehlers-Danlos syndrome, classic-like, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606408"> 606408 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600985"> TNXB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600985"> 600985 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/650?start=-3&limit=10&highlight=650"> 6q13-q14.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616471"> Bethlem myopathy 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616471"> 616471 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120320"> COL12A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120320"> 120320 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/798?start=-3&limit=10&highlight=798"> 6q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615539"> Ehlers-Danlos syndrome, musculocontractural type 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615539"> 615539 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605942"> DSE </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605942"> 605942 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/1032?start=-3&limit=10&highlight=1032"> 6q27 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620865"> ?Ehlers-Danlos syndrome, classic-like, 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620865"> 620865 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188061"> THBS2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188061"> 188061 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/159?start=-3&limit=10&highlight=159"> 7p14.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614557"> Ehlers-Danlos syndrome, kyphoscoliotic type, 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614557"> 614557 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614505"> FKBP14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614505"> 614505 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/227?start=-3&limit=10&highlight=227"> 7p13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618000"> Ehlers-Danlos syndrome, classic-like, 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618000"> 618000 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602981"> AEBP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602981"> 602981 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/423?start=-3&limit=10&highlight=423"> 7q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/225320"> Ehlers-Danlos syndrome, cardiac valvular type </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/225320"> 225320 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120160"> COL1A2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120160"> 120160 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/423?start=-3&limit=10&highlight=423"> 7q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617821"> Ehlers-Danlos syndrome, arthrochalasia type, 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617821"> 617821 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120160"> COL1A2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120160"> 120160 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/629?start=-3&limit=10&highlight=629"> 9q34.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/130000"> Ehlers-Danlos syndrome, classic type, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/130000"> 130000 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120215"> COL5A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120215"> 120215 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/363?start=-3&limit=10&highlight=363"> 11p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612350"> Ehlers-Danlos syndrome, spondylodysplastic type, 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612350"> 612350 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608735"> SLC39A13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608735"> 608735 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/89?start=-3&limit=10&highlight=89"> 12p13.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617174"> Ehlers-Danlos syndrome, periodontal type, 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617174"> 617174 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120580"> C1S </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120580"> 120580 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/90?start=-3&limit=10&highlight=90"> 12p13.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/130080"> Ehlers-Danlos syndrome, periodontal type, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/130080"> 130080 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613785"> C1R </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613785"> 613785 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/100?start=-3&limit=10&highlight=100"> 15q15.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601776"> Ehlers-Danlos syndrome, musculocontractural type 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601776"> 601776 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608429"> CHST14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608429"> 608429 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/727?start=-3&limit=10&highlight=727"> 16q24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/229200"> Brittle cornea syndrome 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/229200"> 229200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612078"> ZNF469 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612078"> 612078 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/735?start=-3&limit=10&highlight=735"> 17q21.33 </a>
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<a href="/entry/130060"> Ehlers-Danlos syndrome, arthrochalasia type, 1 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/130060"> 130060 </a>
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<a href="/entry/120150"> COL1A1 </a>
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<a href="/entry/120150"> 120150 </a>
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<a href="/entry/130020"> Ehlers-Danlos syndrome, hypermobility type </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<a href="/entry/130020"> 130020 </a>
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<a href="/entry/130020"> EDSHMB </a>
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<span class="mim-font">
<a href="/entry/130020"> 130020 </a>
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Ehlers-Danlos syndrome dermatosparaxis type (EDSDERMS) is caused by mutation in the gene encoding the procollagen protease ADAMTS2 (<a href="/entry/604539">604539</a>) on chromosome 5q35.</p>
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<p>Dermatosparaxis (meaning 'tearing of skin') is an autosomal recessive disorder of connective tissue resulting from deficiency of procollagen peptidase, an enzyme that aids in the processing of type I procollagen. The disorder and the responsible biochemical defect was first observed in cattle (<a href="#8" class="mim-tip-reference" title="Lapiere, C. M., Lenaers, A., Kohn, L. D. &lt;strong&gt;Procollagen peptidase: an enzyme excising the coordination peptides of collagen.&lt;/strong&gt; Proc. Nat. Acad. Sci. 68: 3054-3058, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5289249/&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;5289249&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.68.12.3054&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="5289249">Lapiere et al., 1971</a>). <a href="#9" class="mim-tip-reference" title="Lapiere, C. M., Nusgens, B. V. &lt;strong&gt;Ehlers-Danlos type VII-C, or human dermatosparaxis: the offspring of a union between basic and clinical research.&lt;/strong&gt; Arch. Derm. 129: 1316-1319, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8215498/&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;8215498&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archderm.1993.01680310086015&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="8215498">Lapiere and Nusgens (1993)</a> reviewed the discovery of dermatosparaxis in cattle, the elucidation of the disorder, its occurrence in other animals, and the delayed recognition of the disorder in the human. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8215498+5289249" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#10" class="mim-tip-reference" title="Lichtenstein, J. R., Martin, G. R., Kohn, L. D., Byers, P. H., McKusick, V. A. &lt;strong&gt;Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.&lt;/strong&gt; Science 182: 298-299, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4742738/&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;4742738&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.182.4109.298&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="4742738">Lichtenstein et al. (1973)</a> reported 2 patients with severe joint hyperextensibility and mild stretchability and bruisability of the skin similar to that seen in dermatosparaxis in cattle. Other clinical features in the patients included short stature, epicanthal folds, depressed nasal bridge, and micrognathia. Cultured fibroblasts showed decreased activity of procollagen peptidase. <a href="#10" class="mim-tip-reference" title="Lichtenstein, J. R., Martin, G. R., Kohn, L. D., Byers, P. H., McKusick, V. A. &lt;strong&gt;Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.&lt;/strong&gt; Science 182: 298-299, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4742738/&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;4742738&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.182.4109.298&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="4742738">Lichtenstein et al. (1973)</a> concluded that the clinical manifestations were related to impaired enzymatic conversion of procollagen to collagen due to an enzyme defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4742738" 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="#14" class="mim-tip-reference" title="Nusgens, B. V., Verellen-Dumoulin, C., Hermanns-Le, T., De Paepe, A., Nuytinck, L., Pierard, G. E., Lapiere, C. M. &lt;strong&gt;Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis.&lt;/strong&gt; Nature Genet. 1: 214-217, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1303238/&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;1303238&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0692-214&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="1303238">Nusgens et al. (1992)</a> reported an affected 2-year-old girl with dysmorphic facial features and soft skin. She had large-appearing eyes and thickened eyelids, small stature, and lack of ossification of cranial bones. Easy bruising was noted at the end of the first year, and she developed a left occipital fracture with massive hematoma following a minor fall. EDS was suspected on the basis of blue sclerae and soft, velvety, hyperextensible skin. She also had marked bruising and open wounds following minor trauma, and suturing was not possible due to the extreme fragility of the skin. Surgical removal of a large umbilical hernia was performed at the age of 20 months; the excised skin could be torn by hand. The parents were unrelated and phenotypically normal. Electron microscopy of skin samples demonstrated altered polymers seen as hieroglyphic pictures, accumulation of type I p-N-alpha-1 and p-N-alpha-2 polypeptides in the dermis, and absence of processing of these polypeptides in fibroblast cultures, similar to that observed in animal models of dermatosparaxis. The authors postulated a deficiency of procollagen I N-proteinase. <a href="#14" class="mim-tip-reference" title="Nusgens, B. V., Verellen-Dumoulin, C., Hermanns-Le, T., De Paepe, A., Nuytinck, L., Pierard, G. E., Lapiere, C. M. &lt;strong&gt;Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis.&lt;/strong&gt; Nature Genet. 1: 214-217, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1303238/&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;1303238&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0692-214&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="1303238">Nusgens et al. (1992)</a> noted that the clinical manifestations of EDS VIIC were different from those of EDS VIIA (<a href="/entry/130060">130060</a>) and VIIB, in which the clinical picture is dominated by joint laxity and subluxations. The skin fragility EDS VIIC can be as severe as that observed in the dermatosparactic calves. Thus, the clinical picture is that of dermatosparaxis and not that of arthrochalasis multiplex congenita. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1303238" 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="#20" class="mim-tip-reference" title="Wertelecki, W., Smith, L. T., Byers, P. &lt;strong&gt;Initial observations of human dermatosparaxis: Ehlers-Danlos syndrome type VIIC.&lt;/strong&gt; J. Pediat. 121: 558-564, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1403389/&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;1403389&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(05)81144-8&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="1403389">Wertelecki et al. (1992)</a> provided clinical details of the 2 patients reported by <a href="#17" class="mim-tip-reference" title="Smith, L. T., Wertelecki, W., Milstone, L. M., Petty, E. M., Seashore, M. R., Braverman, I. M., Jenkins, T. G., Byers, P. H. &lt;strong&gt;Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.&lt;/strong&gt; Am. J. Hum. Genet. 51: 235-244, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642226/&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;1642226&lt;/a&gt;]" pmid="1642226">Smith et al. (1992)</a>. The authors emphasized the large fontanels and wide sagittal and metopic sutures, blue sclerae, micrognathia, and umbilical hernia. Electron microscopic examination of the skin showed collagen sheets rather than fibrils, and characteristic distortions resembling hieroglyphics. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1403389+1642226" 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="#15" class="mim-tip-reference" title="Petty, E. M., Seashore, M. R., Braverman, I. M., Spiesel, S. Z., Smith, L. T., Milstone, L. M. &lt;strong&gt;Dermatosparaxis in children: a case report and review of the newly recognized phenotype.&lt;/strong&gt; Arch. Derm. 129: 1310-1315, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8215497/&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;8215497&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archderm.129.10.1310&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="8215497">Petty et al. (1993)</a> reported a patient with dermatosparaxis, emphasizing marked skin fragility and laxity, blue sclerae, increased bruisability, micrognathia, umbilical hernia, and growth retardation. The patient was a male infant born at 35 weeks' gestation after premature rupture of the membranes. He presented at birth with large full-thickness groin fissures, large fontanels, umbilical hernia, and dental laminal cysts. The diagnosis of dermatosparaxis was made by electron microscopic findings consisting of characteristic small, irregular, and circular collagen fibers in the skin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8215497" 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="#16" class="mim-tip-reference" title="Reardon, W., Winter, R. M., Smith, L. T., Lake, B. D., Rossiter, M., Baraitser, M. &lt;strong&gt;The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC).&lt;/strong&gt; Clin. Dysmorph. 4: 1-11, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7735500/&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;7735500&lt;/a&gt;]" pmid="7735500">Reardon et al. (1995)</a> described a case of dermatosparaxis in a 15-year-old girl and noted that 3 previously reported patients with this disorder died before the age of 3 years. Easy bruising, severe skin laxity and fragility, extensive scar formation, and joint laxity were the main clinical manifestations in their patient. Her soft, doughy skin was easily stretchable, but did not recoil. Electron microscopy showed typical hieroglyphic figures upon cross-section of collagen fibrils. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7735500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Malfait, F., De Coster, P., Hausser, I., van Essen, A. J., Franck, P., Colige, A., Nusgens, B., Martens, L., De Paepe, A. &lt;strong&gt;The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC).&lt;/strong&gt; Am. J. Med. Genet. 131A: 18-28, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15389701/&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;15389701&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30299&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="15389701">Malfait et al. (2004)</a> reported a 5-year-old boy with dermatosparaxis-type EDS and provided follow-up of 2 previously reported patients at the ages of 7 and 12 years. All had characteristic facial features, including large fontanels in infancy, puffy eyelids, epicanthal folds, downslanting palpebral fissures, and micrognathia. Skin was soft, doughy, and redundant. They had short limbs, hands, feet, fingers, and toes. Two patients had spontaneous bladder rupture and 1 had rupture of the diaphragm following vomiting. Orofacial features included gingival hyperplasia, hypodontia, microdontia, and tooth discoloration. Deciduous dentition showed abnormal morphology of the molars and enamel attrition. Skin bruising, skin tearing, and joint hypermobility increased with age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15389701" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Colige, A., Nuytinck, L., Hausser, I., van Essen, A. J., Thiry, M., Herens, C., Ades, L. C., Malfait, F., De Paepe, A., Franck, P., Wolff, G., Oosterwijk, J. C., Smitt, J. H. S., Lapiere, C. M., Nusgens, B. V. &lt;strong&gt;Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (type VIIC) and common polymorphisms in the ADAMTS2 gene.&lt;/strong&gt; J. Invest. Derm. 123: 656-663, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15373769/&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;15373769&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.0022-202X.2004.23406.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="15373769">Colige et al. (2004)</a> reported a boy with EDS dermatosparaxis type confirmed by genetic analysis (<a href="/entry/604539#0003">604539.0003</a>). At birth, there was rupture of the umbilical cord and generalized edema with swollen eyelids. Craniofacial features included short forehead, flat supraorbital ridges, broad nasal root, wide nares, large mouth, micrognathia, hypodontia, gingival hyperplasia, and hypertrichosis. He had short hands, arms, and legs. Other features included joint hypermobility, easy bruising, fragile skin, and blue sclera. In vitro studies showed impaired aminocollagen processing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15373769" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Bar-Yosef, O., Polak-Charcon, S., Hoffman, C., Feldman, Z. P., Frydman, M., Kuint, J. &lt;strong&gt;Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC.&lt;/strong&gt; Am. J. Med. Genet. 146A: 3054-3057, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18973246/&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;18973246&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32541&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="18973246">Bar-Yosef et al. (2008)</a> reported an infant of Ashkenazi Jewish origin with EDS dermatosparaxis type confirmed by genetic analysis (<a href="/entry/604539#0001">604539.0001</a>). He was delivered preterm by cesarean due to fetal heart decelerations and with multiple congenital nontraumatic skull fractures and intracranial hemorrhage. Eight days prior to delivery the mother was admitted to the hospital with premature rupture of the membranes. He died at age 145 days due to sepsis. Family history indicated that the paternal and maternal grandparents originated in Belarus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18973246" 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="#19" class="mim-tip-reference" title="Van Damme, T., Colige, A., Syx, D., Giunta, C., Lindert, U., Rohrbach, M., Aryani, O., Alanay, Y., Simsek-Kiper, P. O., Kroes, H. Y., Devriendt, K., Thiry, M., Symoens, S., De Paepe, A., Malfait, F. &lt;strong&gt;Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.&lt;/strong&gt; Genet. Med. 18: 882-891, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26765342/&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;26765342&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/gim.2015.188&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="26765342">Van Damme et al. (2016)</a> reported 5 new patients from 4 unrelated families with the dermatosparaxis type of EDS, bringing the total of molecularly characterized patients to 15. Three of these patients displayed a phenotype that was milder than previously reported. Among the 5 newly reported patients, only 1 had preterm birth, and none exhibited severe neonatal complications. All had a large fontanel and blue sclerae, but only 1 had eyelid edema and blepharochalasis, which was a common feature in previously reported cases. Umbilical hernia was present in all 5 of the newly reported patients and in 14 of 15 patients overall. <a href="#19" class="mim-tip-reference" title="Van Damme, T., Colige, A., Syx, D., Giunta, C., Lindert, U., Rohrbach, M., Aryani, O., Alanay, Y., Simsek-Kiper, P. O., Kroes, H. Y., Devriendt, K., Thiry, M., Symoens, S., De Paepe, A., Malfait, F. &lt;strong&gt;Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.&lt;/strong&gt; Genet. Med. 18: 882-891, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26765342/&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;26765342&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/gim.2015.188&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="26765342">Van Damme et al. (2016)</a> suggested updated diagnostic criteria, including major diagnostic criteria of severe skin fragility; sagging, redundant skin; easy bruising; and a typical facial gestalt that is congenital and/or postnatal and progressive, with swelling of the periorbital soft tissue, blue sclerae, downslanting palpebral fissures, epicanthal folds, micrognathia, delayed fontanel closure, and dental anomalies. Suggested minor diagnostic criteria included postnatal growth restriction, short limbs with short hands and feet, joint hypermobility, umbilical hernia, and congenital or postnatal visceral and vascular fragility. The authors noted that arterial rupture and aortic dilatation had not been reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26765342" 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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<div>
<a id="inheritance" class="mim-anchor"></a>
<h4 href="#mimInheritanceFold" id="mimInheritanceToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimInheritanceToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
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<div id="mimInheritanceFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>The transmission pattern of EDSDERMS in the families reported by <a href="#3" class="mim-tip-reference" title="Colige, A., Sieron, A. L., Li, S.-W., Schwarze, U., Petty, E., Wertelecki, W., Wilcox, W., Krakow, D., Cohn, D. H., Reardon, W., Byers, P. H., Lapiere, C. M., Prockop, D. J., Nusgens, B. V. &lt;strong&gt;Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.&lt;/strong&gt; Am. J. Hum. Genet. 65: 308-317, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10417273/&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;10417273&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/302504&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="10417273">Colige et al. (1999)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10417273" 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>
</span>
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</div>
<div>
<a id="pathogenesis" class="mim-anchor"></a>
<h4 href="#mimPathogenesisFold" id="mimPathogenesisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimPathogenesisToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Pathogenesis</strong>
</span>
</h4>
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<div id="mimPathogenesisFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#13" class="mim-tip-reference" title="Minor, R. R., Sippola-Thiele, M., McKeon, J., Berger, J., Prockop, D. J. &lt;strong&gt;Defects in the processing of procollagen to collagen are demonstrable in cultured fibroblasts from patients with the Ehlers-Danlos and osteogenesis imperfecta syndromes.&lt;/strong&gt; J. Biol. Chem. 261: 10006-10014, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3733683/&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;3733683&lt;/a&gt;]" pmid="3733683">Minor et al. (1986)</a> examined cell lines from 3 new Ehlers-Danlos syndrome variants showing decreased processing of procollagen. In 1, a structural defect in the alpha-2(I) chain was demonstrated, consistent with EDS VIIB. In the other 2, the collagen chains appeared to be normal, and procollagen N-proteinase activity appeared to be decreased. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3733683" 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="#17" class="mim-tip-reference" title="Smith, L. T., Wertelecki, W., Milstone, L. M., Petty, E. M., Seashore, M. R., Braverman, I. M., Jenkins, T. G., Byers, P. H. &lt;strong&gt;Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.&lt;/strong&gt; Am. J. Hum. Genet. 51: 235-244, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642226/&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;1642226&lt;/a&gt;]" pmid="1642226">Smith et al. (1992)</a> identified possible humans case of procollagen protease deficiency on the basis of electron microscopic changes showing a 'hieroglyphic' appearance of the collagen identical to that seen in cattle with dermatosparaxis (<a href="#8" class="mim-tip-reference" title="Lapiere, C. M., Lenaers, A., Kohn, L. D. &lt;strong&gt;Procollagen peptidase: an enzyme excising the coordination peptides of collagen.&lt;/strong&gt; Proc. Nat. Acad. Sci. 68: 3054-3058, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5289249/&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;5289249&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.68.12.3054&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="5289249">Lapiere et al., 1971</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1642226+5289249" 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="#17" class="mim-tip-reference" title="Smith, L. T., Wertelecki, W., Milstone, L. M., Petty, E. M., Seashore, M. R., Braverman, I. M., Jenkins, T. G., Byers, P. H. &lt;strong&gt;Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.&lt;/strong&gt; Am. J. Hum. Genet. 51: 235-244, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642226/&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;1642226&lt;/a&gt;]" pmid="1642226">Smith et al. (1992)</a> identified 2 children with soft, lax, and fragile skin which on transmission electron microscopy was found to contain twisted, ribbon-like collagen fibrils characteristic of dermatosparaxis. The skin from 1 child was shown to contain collagen precursors with amino-terminal extensions. Cultured fibroblasts from both children failed to cleave the amino-terminal propeptides from both alpha chains of type I procollagen. Extracts of normal cells cleaved normally the type I procollagen synthesized by cells from both children, demonstrating that the enzyme, not the substrate, was defective. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1642226" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Molecular Genetics</strong>
</span>
</h4>
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<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#3" class="mim-tip-reference" title="Colige, A., Sieron, A. L., Li, S.-W., Schwarze, U., Petty, E., Wertelecki, W., Wilcox, W., Krakow, D., Cohn, D. H., Reardon, W., Byers, P. H., Lapiere, C. M., Prockop, D. J., Nusgens, B. V. &lt;strong&gt;Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.&lt;/strong&gt; Am. J. Hum. Genet. 65: 308-317, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10417273/&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;10417273&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/302504&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="10417273">Colige et al. (1999)</a> identified mutations in the ADAMTS2 gene causing EDS type VIIC in the 6 known affected individuals and also in 1 strain of dermatosparactic calf. Five of the individuals with EDS type VIIC were homozygous for a gln225-to-ter substitution (<a href="/entry/604539#0001">604539.0001</a>). Four of these 5 patients were homozygous at 3 downstream polymorphic sites. The sixth patient was homozygous for a trp795-to-ter substitution (<a href="/entry/604539#0002">604539.0002</a>). In the dermatosparactic calf, the mutation was a 17-bp deletion that changed the reading frame of the message. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10417273" 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 EDS type VIIC, <a href="#2" class="mim-tip-reference" title="Colige, A., Nuytinck, L., Hausser, I., van Essen, A. J., Thiry, M., Herens, C., Ades, L. C., Malfait, F., De Paepe, A., Franck, P., Wolff, G., Oosterwijk, J. C., Smitt, J. H. S., Lapiere, C. M., Nusgens, B. V. &lt;strong&gt;Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (type VIIC) and common polymorphisms in the ADAMTS2 gene.&lt;/strong&gt; J. Invest. Derm. 123: 656-663, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15373769/&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;15373769&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.0022-202X.2004.23406.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="15373769">Colige et al. (2004)</a> identified homozygosity or compound heterozygosity for mutations in the ADAMTS2 gene (see, e.g., <a href="/entry/604539#0003">604539.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15373769" 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="#19" class="mim-tip-reference" title="Van Damme, T., Colige, A., Syx, D., Giunta, C., Lindert, U., Rohrbach, M., Aryani, O., Alanay, Y., Simsek-Kiper, P. O., Kroes, H. Y., Devriendt, K., Thiry, M., Symoens, S., De Paepe, A., Malfait, F. &lt;strong&gt;Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.&lt;/strong&gt; Genet. Med. 18: 882-891, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26765342/&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;26765342&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/gim.2015.188&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="26765342">Van Damme et al. (2016)</a> identified 3 novel homozygous loss-of-function mutations and 1 compound heterozygous mutation in ADAMTS2 in 5 patients from 4 unrelated families with dermatosparaxis-type EDS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26765342" 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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<div>
<a id="nomenclature" class="mim-anchor"></a>
<h4 href="#mimNomenclatureFold" id="mimNomenclatureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimNomenclatureToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
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<div id="mimNomenclatureFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#14" class="mim-tip-reference" title="Nusgens, B. V., Verellen-Dumoulin, C., Hermanns-Le, T., De Paepe, A., Nuytinck, L., Pierard, G. E., Lapiere, C. M. &lt;strong&gt;Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis.&lt;/strong&gt; Nature Genet. 1: 214-217, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1303238/&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;1303238&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0692-214&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="1303238">Nusgens et al. (1992)</a> referred to this disorder as Ehlers-Danlos syndrome type VIIC, reserving EDS VIIA and EDS VIIB for the disorders resulting from defects in the procollagen alpha-1 and alpha-2 polypeptides, respectively. <a href="#12" class="mim-tip-reference" title="McKusick, V. A. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Baltimore, Md. 1979."None>McKusick (1979)</a> had previously used the designations VII-A1 and VII-A2 for VII-A and VII-B, and VII-B instead of VII-C for deficiency of procollagen peptidase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1303238" 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>EDS type VIIC has been demonstrated in cattle (<a href="#8" class="mim-tip-reference" title="Lapiere, C. M., Lenaers, A., Kohn, L. D. &lt;strong&gt;Procollagen peptidase: an enzyme excising the coordination peptides of collagen.&lt;/strong&gt; Proc. Nat. Acad. Sci. 68: 3054-3058, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5289249/&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;5289249&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.68.12.3054&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="5289249">Lapiere et al., 1971</a>), sheep (<a href="#5" class="mim-tip-reference" title="Fjolstad, M., Helle, O. &lt;strong&gt;A hereditary dysplasia of collagen tissues in sheep.&lt;/strong&gt; J. Path. 112: 183-188, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4835120/&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;4835120&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/path.1711120309&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="4835120">Fjolstad and Helle, 1974</a>), and the Himalayan cat (<a href="#4" class="mim-tip-reference" title="Counts, D. F., Byers, P. H., Holbrook, K. A., Hegreberg, G. A. &lt;strong&gt;Dermatosparaxis in a Himalayan cat: I. Biochemical studies of dermal collagen.&lt;/strong&gt; J. Invest. Derm. 74: 96-99, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7351504/&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;7351504&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/1523-1747.ep12519991&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="7351504">Counts et al., 1980</a>; <a href="#7" class="mim-tip-reference" title="Holbrook, K. A., Byers, P. H., Counts, D. F., Hegreberg, G. A. &lt;strong&gt;Dermatosparaxis in a Himalayan cat: II. Ultrastructural studies of dermal collagen.&lt;/strong&gt; J. Invest. Derm. 74: 100-104, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7351497/&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;7351497&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/1523-1747.ep12520000&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="7351497">Holbrook et al., 1980</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7351504+7351497+5289249+4835120" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="seeAlso" class="mim-anchor"></a>
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>See Also:</strong>
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<a href="#Hanset1974" class="mim-tip-reference" title="Hanset, R., Lapiere, C. M. &lt;strong&gt;Inheritance of dermatosparaxis in the calf: a genetic defect of connective tissues.&lt;/strong&gt; J. Hered. 65: 356-358, 1974.">Hanset and Lapiere (1974)</a>; <a href="#Steinmann1980" class="mim-tip-reference" title="Steinmann, B., Tuderman, L., Peltonen, L., Martin, G. R., McKusick, V. A., Prockop, D. J. &lt;strong&gt;Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.&lt;/strong&gt; J. Biol. Chem. 255: 8887-8893, 1980.">Steinmann et al. (1980)</a>
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<a id="references"class="mim-anchor"></a>
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<strong>REFERENCES</strong>
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</h4>
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</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Bar-Yosef2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bar-Yosef, O., Polak-Charcon, S., Hoffman, C., Feldman, Z. P., Frydman, M., Kuint, J.
<strong>Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC.</strong>
Am. J. Med. Genet. 146A: 3054-3057, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18973246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18973246</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18973246" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.32541" target="_blank">Full Text</a>]
</p>
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<a id="2" class="mim-anchor"></a>
<a id="Colige2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Colige, A., Nuytinck, L., Hausser, I., van Essen, A. J., Thiry, M., Herens, C., Ades, L. C., Malfait, F., De Paepe, A., Franck, P., Wolff, G., Oosterwijk, J. C., Smitt, J. H. S., Lapiere, C. M., Nusgens, B. V.
<strong>Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (type VIIC) and common polymorphisms in the ADAMTS2 gene.</strong>
J. Invest. Derm. 123: 656-663, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15373769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15373769</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15373769" 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.0022-202X.2004.23406.x" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
<a id="Colige1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Colige, A., Sieron, A. L., Li, S.-W., Schwarze, U., Petty, E., Wertelecki, W., Wilcox, W., Krakow, D., Cohn, D. H., Reardon, W., Byers, P. H., Lapiere, C. M., Prockop, D. J., Nusgens, B. V.
<strong>Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.</strong>
Am. J. Hum. Genet. 65: 308-317, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10417273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10417273</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10417273" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/302504" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="4" class="mim-anchor"></a>
<a id="Counts1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Counts, D. F., Byers, P. H., Holbrook, K. A., Hegreberg, G. A.
<strong>Dermatosparaxis in a Himalayan cat: I. Biochemical studies of dermal collagen.</strong>
J. Invest. Derm. 74: 96-99, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7351504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7351504</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7351504" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/1523-1747.ep12519991" target="_blank">Full Text</a>]
</p>
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<a id="5" class="mim-anchor"></a>
<a id="Fjolstad1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fjolstad, M., Helle, O.
<strong>A hereditary dysplasia of collagen tissues in sheep.</strong>
J. Path. 112: 183-188, 1974.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4835120/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4835120</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4835120" 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/path.1711120309" target="_blank">Full Text</a>]
</p>
</div>
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<a id="6" class="mim-anchor"></a>
<a id="Hanset1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hanset, R., Lapiere, C. M.
<strong>Inheritance of dermatosparaxis in the calf: a genetic defect of connective tissues.</strong>
J. Hered. 65: 356-358, 1974.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4448898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4448898</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4448898" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/oxfordjournals.jhered.a108549" target="_blank">Full Text</a>]
</p>
</div>
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<a id="7" class="mim-anchor"></a>
<a id="Holbrook1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Holbrook, K. A., Byers, P. H., Counts, D. F., Hegreberg, G. A.
<strong>Dermatosparaxis in a Himalayan cat: II. Ultrastructural studies of dermal collagen.</strong>
J. Invest. Derm. 74: 100-104, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7351497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7351497</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7351497" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/1523-1747.ep12520000" target="_blank">Full Text</a>]
</p>
</div>
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<a id="8" class="mim-anchor"></a>
<a id="Lapiere1971" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lapiere, C. M., Lenaers, A., Kohn, L. D.
<strong>Procollagen peptidase: an enzyme excising the coordination peptides of collagen.</strong>
Proc. Nat. Acad. Sci. 68: 3054-3058, 1971.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5289249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5289249</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5289249" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1073/pnas.68.12.3054" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="9" class="mim-anchor"></a>
<a id="Lapiere1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lapiere, C. M., Nusgens, B. V.
<strong>Ehlers-Danlos type VII-C, or human dermatosparaxis: the offspring of a union between basic and clinical research.</strong>
Arch. Derm. 129: 1316-1319, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8215498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8215498</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8215498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archderm.1993.01680310086015" target="_blank">Full Text</a>]
</p>
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<a id="10" class="mim-anchor"></a>
<a id="Lichtenstein1973" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lichtenstein, J. R., Martin, G. R., Kohn, L. D., Byers, P. H., McKusick, V. A.
<strong>Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.</strong>
Science 182: 298-299, 1973.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4742738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4742738</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4742738" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1126/science.182.4109.298" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="11" class="mim-anchor"></a>
<a id="Malfait2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Malfait, F., De Coster, P., Hausser, I., van Essen, A. J., Franck, P., Colige, A., Nusgens, B., Martens, L., De Paepe, A.
<strong>The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC).</strong>
Am. J. Med. Genet. 131A: 18-28, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15389701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15389701</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15389701" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.30299" target="_blank">Full Text</a>]
</p>
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<a id="12" class="mim-anchor"></a>
<a id="McKusick1979" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
McKusick, V. A.
<strong>Personal Communication.</strong>
Baltimore, Md. 1979.
</p>
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<a id="13" class="mim-anchor"></a>
<a id="Minor1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Minor, R. R., Sippola-Thiele, M., McKeon, J., Berger, J., Prockop, D. J.
<strong>Defects in the processing of procollagen to collagen are demonstrable in cultured fibroblasts from patients with the Ehlers-Danlos and osteogenesis imperfecta syndromes.</strong>
J. Biol. Chem. 261: 10006-10014, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3733683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3733683</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3733683" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
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<a id="14" class="mim-anchor"></a>
<a id="Nusgens1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Nusgens, B. V., Verellen-Dumoulin, C., Hermanns-Le, T., De Paepe, A., Nuytinck, L., Pierard, G. E., Lapiere, C. M.
<strong>Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis.</strong>
Nature Genet. 1: 214-217, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303238</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1303238" 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/ng0692-214" target="_blank">Full Text</a>]
</p>
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<a id="15" class="mim-anchor"></a>
<a id="Petty1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Petty, E. M., Seashore, M. R., Braverman, I. M., Spiesel, S. Z., Smith, L. T., Milstone, L. M.
<strong>Dermatosparaxis in children: a case report and review of the newly recognized phenotype.</strong>
Arch. Derm. 129: 1310-1315, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8215497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8215497</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8215497" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archderm.129.10.1310" target="_blank">Full Text</a>]
</p>
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<a id="16" class="mim-anchor"></a>
<a id="Reardon1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Reardon, W., Winter, R. M., Smith, L. T., Lake, B. D., Rossiter, M., Baraitser, M.
<strong>The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC).</strong>
Clin. Dysmorph. 4: 1-11, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7735500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7735500</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7735500" 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="17" class="mim-anchor"></a>
<a id="Smith1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Smith, L. T., Wertelecki, W., Milstone, L. M., Petty, E. M., Seashore, M. R., Braverman, I. M., Jenkins, T. G., Byers, P. H.
<strong>Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.</strong>
Am. J. Hum. Genet. 51: 235-244, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1642226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1642226</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1642226" 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="Steinmann1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Steinmann, B., Tuderman, L., Peltonen, L., Martin, G. R., McKusick, V. A., Prockop, D. J.
<strong>Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.</strong>
J. Biol. Chem. 255: 8887-8893, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6773953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6773953</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6773953" 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="19" class="mim-anchor"></a>
<a id="Van Damme2016" class="mim-anchor"></a>
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<p class="mim-text-font">
Van Damme, T., Colige, A., Syx, D., Giunta, C., Lindert, U., Rohrbach, M., Aryani, O., Alanay, Y., Simsek-Kiper, P. O., Kroes, H. Y., Devriendt, K., Thiry, M., Symoens, S., De Paepe, A., Malfait, F.
<strong>Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.</strong>
Genet. Med. 18: 882-891, 2016.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26765342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26765342</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26765342" 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/gim.2015.188" target="_blank">Full Text</a>]
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<a id="20" class="mim-anchor"></a>
<a id="Wertelecki1992" class="mim-anchor"></a>
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<p class="mim-text-font">
Wertelecki, W., Smith, L. T., Byers, P.
<strong>Initial observations of human dermatosparaxis: Ehlers-Danlos syndrome type VIIC.</strong>
J. Pediat. 121: 558-564, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1403389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1403389</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1403389" 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(05)81144-8" target="_blank">Full Text</a>]
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
Ada Hamosh - updated : 10/19/2018
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Cassandra L. Kniffin - updated : 12/29/2008<br>Cassandra L. Kniffin - updated : 7/2/2008<br>Cassandra L. Kniffin - updated : 12/27/2004<br>Victor A. McKusick - updated : 1/11/2000<br>Iosif W. Lurie - updated : 9/17/1996
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Creation Date:
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Victor A. McKusick : 6/3/1986
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alopez : 12/07/2023
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alopez : 10/19/2018<br>carol : 12/21/2017<br>alopez : 09/13/2016<br>carol : 02/02/2010<br>ckniffin : 1/14/2009<br>wwang : 1/6/2009<br>ckniffin : 12/29/2008<br>wwang : 7/8/2008<br>ckniffin : 7/2/2008<br>ckniffin : 6/29/2008<br>carol : 3/15/2007<br>tkritzer : 1/20/2005<br>ckniffin : 12/27/2004<br>carol : 4/4/2003<br>carol : 4/4/2003<br>mgross : 2/11/2000<br>terry : 1/11/2000<br>dkim : 12/8/1998<br>dkim : 12/8/1998<br>terry : 12/11/1997<br>terry : 3/17/1997<br>carol : 9/17/1996<br>mimadm : 5/12/1994<br>pfoster : 4/5/1994<br>warfield : 3/30/1994<br>carol : 12/22/1993<br>carol : 12/1/1992
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<h3>
<span class="mim-font">
<strong>#</strong> 225410
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<span class="mim-font">
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE; EDSDERMS
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
DERMATOSPARAXIS<br />
EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE<br />
EDS VIIC<br />
EDS7C
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<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 1237225007; &nbsp;
<strong>ORPHA:</strong> 1901; &nbsp;
<strong>DO:</strong> 0080733; &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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<span class="mim-font">
5q35.3
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Ehlers-Danlos syndrome, dermatosparaxis type
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<span class="mim-font">
225410
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Autosomal recessive
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3
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ADAMTS2
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604539
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Ehlers-Danlos syndrome dermatosparaxis type (EDSDERMS) is caused by mutation in the gene encoding the procollagen protease ADAMTS2 (604539) on chromosome 5q35.</p>
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<strong>Description</strong>
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<p>Dermatosparaxis (meaning 'tearing of skin') is an autosomal recessive disorder of connective tissue resulting from deficiency of procollagen peptidase, an enzyme that aids in the processing of type I procollagen. The disorder and the responsible biochemical defect was first observed in cattle (Lapiere et al., 1971). Lapiere and Nusgens (1993) reviewed the discovery of dermatosparaxis in cattle, the elucidation of the disorder, its occurrence in other animals, and the delayed recognition of the disorder in the human. </p>
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<strong>Clinical Features</strong>
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<p>Lichtenstein et al. (1973) reported 2 patients with severe joint hyperextensibility and mild stretchability and bruisability of the skin similar to that seen in dermatosparaxis in cattle. Other clinical features in the patients included short stature, epicanthal folds, depressed nasal bridge, and micrognathia. Cultured fibroblasts showed decreased activity of procollagen peptidase. Lichtenstein et al. (1973) concluded that the clinical manifestations were related to impaired enzymatic conversion of procollagen to collagen due to an enzyme defect. </p><p>Nusgens et al. (1992) reported an affected 2-year-old girl with dysmorphic facial features and soft skin. She had large-appearing eyes and thickened eyelids, small stature, and lack of ossification of cranial bones. Easy bruising was noted at the end of the first year, and she developed a left occipital fracture with massive hematoma following a minor fall. EDS was suspected on the basis of blue sclerae and soft, velvety, hyperextensible skin. She also had marked bruising and open wounds following minor trauma, and suturing was not possible due to the extreme fragility of the skin. Surgical removal of a large umbilical hernia was performed at the age of 20 months; the excised skin could be torn by hand. The parents were unrelated and phenotypically normal. Electron microscopy of skin samples demonstrated altered polymers seen as hieroglyphic pictures, accumulation of type I p-N-alpha-1 and p-N-alpha-2 polypeptides in the dermis, and absence of processing of these polypeptides in fibroblast cultures, similar to that observed in animal models of dermatosparaxis. The authors postulated a deficiency of procollagen I N-proteinase. Nusgens et al. (1992) noted that the clinical manifestations of EDS VIIC were different from those of EDS VIIA (130060) and VIIB, in which the clinical picture is dominated by joint laxity and subluxations. The skin fragility EDS VIIC can be as severe as that observed in the dermatosparactic calves. Thus, the clinical picture is that of dermatosparaxis and not that of arthrochalasis multiplex congenita. </p><p>Wertelecki et al. (1992) provided clinical details of the 2 patients reported by Smith et al. (1992). The authors emphasized the large fontanels and wide sagittal and metopic sutures, blue sclerae, micrognathia, and umbilical hernia. Electron microscopic examination of the skin showed collagen sheets rather than fibrils, and characteristic distortions resembling hieroglyphics. </p><p>Petty et al. (1993) reported a patient with dermatosparaxis, emphasizing marked skin fragility and laxity, blue sclerae, increased bruisability, micrognathia, umbilical hernia, and growth retardation. The patient was a male infant born at 35 weeks' gestation after premature rupture of the membranes. He presented at birth with large full-thickness groin fissures, large fontanels, umbilical hernia, and dental laminal cysts. The diagnosis of dermatosparaxis was made by electron microscopic findings consisting of characteristic small, irregular, and circular collagen fibers in the skin. </p><p>Reardon et al. (1995) described a case of dermatosparaxis in a 15-year-old girl and noted that 3 previously reported patients with this disorder died before the age of 3 years. Easy bruising, severe skin laxity and fragility, extensive scar formation, and joint laxity were the main clinical manifestations in their patient. Her soft, doughy skin was easily stretchable, but did not recoil. Electron microscopy showed typical hieroglyphic figures upon cross-section of collagen fibrils. </p><p>Malfait et al. (2004) reported a 5-year-old boy with dermatosparaxis-type EDS and provided follow-up of 2 previously reported patients at the ages of 7 and 12 years. All had characteristic facial features, including large fontanels in infancy, puffy eyelids, epicanthal folds, downslanting palpebral fissures, and micrognathia. Skin was soft, doughy, and redundant. They had short limbs, hands, feet, fingers, and toes. Two patients had spontaneous bladder rupture and 1 had rupture of the diaphragm following vomiting. Orofacial features included gingival hyperplasia, hypodontia, microdontia, and tooth discoloration. Deciduous dentition showed abnormal morphology of the molars and enamel attrition. Skin bruising, skin tearing, and joint hypermobility increased with age. </p><p>Colige et al. (2004) reported a boy with EDS dermatosparaxis type confirmed by genetic analysis (604539.0003). At birth, there was rupture of the umbilical cord and generalized edema with swollen eyelids. Craniofacial features included short forehead, flat supraorbital ridges, broad nasal root, wide nares, large mouth, micrognathia, hypodontia, gingival hyperplasia, and hypertrichosis. He had short hands, arms, and legs. Other features included joint hypermobility, easy bruising, fragile skin, and blue sclera. In vitro studies showed impaired aminocollagen processing. </p><p>Bar-Yosef et al. (2008) reported an infant of Ashkenazi Jewish origin with EDS dermatosparaxis type confirmed by genetic analysis (604539.0001). He was delivered preterm by cesarean due to fetal heart decelerations and with multiple congenital nontraumatic skull fractures and intracranial hemorrhage. Eight days prior to delivery the mother was admitted to the hospital with premature rupture of the membranes. He died at age 145 days due to sepsis. Family history indicated that the paternal and maternal grandparents originated in Belarus. </p><p>Van Damme et al. (2016) reported 5 new patients from 4 unrelated families with the dermatosparaxis type of EDS, bringing the total of molecularly characterized patients to 15. Three of these patients displayed a phenotype that was milder than previously reported. Among the 5 newly reported patients, only 1 had preterm birth, and none exhibited severe neonatal complications. All had a large fontanel and blue sclerae, but only 1 had eyelid edema and blepharochalasis, which was a common feature in previously reported cases. Umbilical hernia was present in all 5 of the newly reported patients and in 14 of 15 patients overall. Van Damme et al. (2016) suggested updated diagnostic criteria, including major diagnostic criteria of severe skin fragility; sagging, redundant skin; easy bruising; and a typical facial gestalt that is congenital and/or postnatal and progressive, with swelling of the periorbital soft tissue, blue sclerae, downslanting palpebral fissures, epicanthal folds, micrognathia, delayed fontanel closure, and dental anomalies. Suggested minor diagnostic criteria included postnatal growth restriction, short limbs with short hands and feet, joint hypermobility, umbilical hernia, and congenital or postnatal visceral and vascular fragility. The authors noted that arterial rupture and aortic dilatation had not been reported. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of EDSDERMS in the families reported by Colige et al. (1999) was consistent with autosomal recessive inheritance. </p>
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<strong>Pathogenesis</strong>
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<p>Minor et al. (1986) examined cell lines from 3 new Ehlers-Danlos syndrome variants showing decreased processing of procollagen. In 1, a structural defect in the alpha-2(I) chain was demonstrated, consistent with EDS VIIB. In the other 2, the collagen chains appeared to be normal, and procollagen N-proteinase activity appeared to be decreased. </p><p>Smith et al. (1992) identified possible humans case of procollagen protease deficiency on the basis of electron microscopic changes showing a 'hieroglyphic' appearance of the collagen identical to that seen in cattle with dermatosparaxis (Lapiere et al., 1971). </p><p>Smith et al. (1992) identified 2 children with soft, lax, and fragile skin which on transmission electron microscopy was found to contain twisted, ribbon-like collagen fibrils characteristic of dermatosparaxis. The skin from 1 child was shown to contain collagen precursors with amino-terminal extensions. Cultured fibroblasts from both children failed to cleave the amino-terminal propeptides from both alpha chains of type I procollagen. Extracts of normal cells cleaved normally the type I procollagen synthesized by cells from both children, demonstrating that the enzyme, not the substrate, was defective. </p>
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<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
<p>Colige et al. (1999) identified mutations in the ADAMTS2 gene causing EDS type VIIC in the 6 known affected individuals and also in 1 strain of dermatosparactic calf. Five of the individuals with EDS type VIIC were homozygous for a gln225-to-ter substitution (604539.0001). Four of these 5 patients were homozygous at 3 downstream polymorphic sites. The sixth patient was homozygous for a trp795-to-ter substitution (604539.0002). In the dermatosparactic calf, the mutation was a 17-bp deletion that changed the reading frame of the message. </p><p>In 2 unrelated patients with EDS type VIIC, Colige et al. (2004) identified homozygosity or compound heterozygosity for mutations in the ADAMTS2 gene (see, e.g., 604539.0003). </p><p>Van Damme et al. (2016) identified 3 novel homozygous loss-of-function mutations and 1 compound heterozygous mutation in ADAMTS2 in 5 patients from 4 unrelated families with dermatosparaxis-type EDS. </p>
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<span class="mim-font">
<strong>Nomenclature</strong>
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<p>Nusgens et al. (1992) referred to this disorder as Ehlers-Danlos syndrome type VIIC, reserving EDS VIIA and EDS VIIB for the disorders resulting from defects in the procollagen alpha-1 and alpha-2 polypeptides, respectively. McKusick (1979) had previously used the designations VII-A1 and VII-A2 for VII-A and VII-B, and VII-B instead of VII-C for deficiency of procollagen peptidase. </p>
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<strong>Animal Model</strong>
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<p>EDS type VIIC has been demonstrated in cattle (Lapiere et al., 1971), sheep (Fjolstad and Helle, 1974), and the Himalayan cat (Counts et al., 1980; Holbrook et al., 1980). </p>
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<strong>See Also:</strong>
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<span class="mim-text-font">
Hanset and Lapiere (1974); Steinmann et al. (1980)
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
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<ol>
<li>
<p class="mim-text-font">
Bar-Yosef, O., Polak-Charcon, S., Hoffman, C., Feldman, Z. P., Frydman, M., Kuint, J.
<strong>Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC.</strong>
Am. J. Med. Genet. 146A: 3054-3057, 2008.
[PubMed: 18973246]
[Full Text: https://doi.org/10.1002/ajmg.a.32541]
</p>
</li>
<li>
<p class="mim-text-font">
Colige, A., Nuytinck, L., Hausser, I., van Essen, A. J., Thiry, M., Herens, C., Ades, L. C., Malfait, F., De Paepe, A., Franck, P., Wolff, G., Oosterwijk, J. C., Smitt, J. H. S., Lapiere, C. M., Nusgens, B. V.
<strong>Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (type VIIC) and common polymorphisms in the ADAMTS2 gene.</strong>
J. Invest. Derm. 123: 656-663, 2004.
[PubMed: 15373769]
[Full Text: https://doi.org/10.1111/j.0022-202X.2004.23406.x]
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<li>
<p class="mim-text-font">
Colige, A., Sieron, A. L., Li, S.-W., Schwarze, U., Petty, E., Wertelecki, W., Wilcox, W., Krakow, D., Cohn, D. H., Reardon, W., Byers, P. H., Lapiere, C. M., Prockop, D. J., Nusgens, B. V.
<strong>Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.</strong>
Am. J. Hum. Genet. 65: 308-317, 1999.
[PubMed: 10417273]
[Full Text: https://doi.org/10.1086/302504]
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<p class="mim-text-font">
Counts, D. F., Byers, P. H., Holbrook, K. A., Hegreberg, G. A.
<strong>Dermatosparaxis in a Himalayan cat: I. Biochemical studies of dermal collagen.</strong>
J. Invest. Derm. 74: 96-99, 1980.
[PubMed: 7351504]
[Full Text: https://doi.org/10.1111/1523-1747.ep12519991]
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<li>
<p class="mim-text-font">
Fjolstad, M., Helle, O.
<strong>A hereditary dysplasia of collagen tissues in sheep.</strong>
J. Path. 112: 183-188, 1974.
[PubMed: 4835120]
[Full Text: https://doi.org/10.1002/path.1711120309]
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<p class="mim-text-font">
Hanset, R., Lapiere, C. M.
<strong>Inheritance of dermatosparaxis in the calf: a genetic defect of connective tissues.</strong>
J. Hered. 65: 356-358, 1974.
[PubMed: 4448898]
[Full Text: https://doi.org/10.1093/oxfordjournals.jhered.a108549]
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<li>
<p class="mim-text-font">
Holbrook, K. A., Byers, P. H., Counts, D. F., Hegreberg, G. A.
<strong>Dermatosparaxis in a Himalayan cat: II. Ultrastructural studies of dermal collagen.</strong>
J. Invest. Derm. 74: 100-104, 1980.
[PubMed: 7351497]
[Full Text: https://doi.org/10.1111/1523-1747.ep12520000]
</p>
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<li>
<p class="mim-text-font">
Lapiere, C. M., Lenaers, A., Kohn, L. D.
<strong>Procollagen peptidase: an enzyme excising the coordination peptides of collagen.</strong>
Proc. Nat. Acad. Sci. 68: 3054-3058, 1971.
[PubMed: 5289249]
[Full Text: https://doi.org/10.1073/pnas.68.12.3054]
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<li>
<p class="mim-text-font">
Lapiere, C. M., Nusgens, B. V.
<strong>Ehlers-Danlos type VII-C, or human dermatosparaxis: the offspring of a union between basic and clinical research.</strong>
Arch. Derm. 129: 1316-1319, 1993.
[PubMed: 8215498]
[Full Text: https://doi.org/10.1001/archderm.1993.01680310086015]
</p>
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<li>
<p class="mim-text-font">
Lichtenstein, J. R., Martin, G. R., Kohn, L. D., Byers, P. H., McKusick, V. A.
<strong>Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.</strong>
Science 182: 298-299, 1973.
[PubMed: 4742738]
[Full Text: https://doi.org/10.1126/science.182.4109.298]
</p>
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<li>
<p class="mim-text-font">
Malfait, F., De Coster, P., Hausser, I., van Essen, A. J., Franck, P., Colige, A., Nusgens, B., Martens, L., De Paepe, A.
<strong>The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC).</strong>
Am. J. Med. Genet. 131A: 18-28, 2004.
[PubMed: 15389701]
[Full Text: https://doi.org/10.1002/ajmg.a.30299]
</p>
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<li>
<p class="mim-text-font">
McKusick, V. A.
<strong>Personal Communication.</strong>
Baltimore, Md. 1979.
</p>
</li>
<li>
<p class="mim-text-font">
Minor, R. R., Sippola-Thiele, M., McKeon, J., Berger, J., Prockop, D. J.
<strong>Defects in the processing of procollagen to collagen are demonstrable in cultured fibroblasts from patients with the Ehlers-Danlos and osteogenesis imperfecta syndromes.</strong>
J. Biol. Chem. 261: 10006-10014, 1986.
[PubMed: 3733683]
</p>
</li>
<li>
<p class="mim-text-font">
Nusgens, B. V., Verellen-Dumoulin, C., Hermanns-Le, T., De Paepe, A., Nuytinck, L., Pierard, G. E., Lapiere, C. M.
<strong>Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis.</strong>
Nature Genet. 1: 214-217, 1992.
[PubMed: 1303238]
[Full Text: https://doi.org/10.1038/ng0692-214]
</p>
</li>
<li>
<p class="mim-text-font">
Petty, E. M., Seashore, M. R., Braverman, I. M., Spiesel, S. Z., Smith, L. T., Milstone, L. M.
<strong>Dermatosparaxis in children: a case report and review of the newly recognized phenotype.</strong>
Arch. Derm. 129: 1310-1315, 1993.
[PubMed: 8215497]
[Full Text: https://doi.org/10.1001/archderm.129.10.1310]
</p>
</li>
<li>
<p class="mim-text-font">
Reardon, W., Winter, R. M., Smith, L. T., Lake, B. D., Rossiter, M., Baraitser, M.
<strong>The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC).</strong>
Clin. Dysmorph. 4: 1-11, 1995.
[PubMed: 7735500]
</p>
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<li>
<p class="mim-text-font">
Smith, L. T., Wertelecki, W., Milstone, L. M., Petty, E. M., Seashore, M. R., Braverman, I. M., Jenkins, T. G., Byers, P. H.
<strong>Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.</strong>
Am. J. Hum. Genet. 51: 235-244, 1992.
[PubMed: 1642226]
</p>
</li>
<li>
<p class="mim-text-font">
Steinmann, B., Tuderman, L., Peltonen, L., Martin, G. R., McKusick, V. A., Prockop, D. J.
<strong>Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.</strong>
J. Biol. Chem. 255: 8887-8893, 1980.
[PubMed: 6773953]
</p>
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<li>
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Van Damme, T., Colige, A., Syx, D., Giunta, C., Lindert, U., Rohrbach, M., Aryani, O., Alanay, Y., Simsek-Kiper, P. O., Kroes, H. Y., Devriendt, K., Thiry, M., Symoens, S., De Paepe, A., Malfait, F.
<strong>Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.</strong>
Genet. Med. 18: 882-891, 2016.
[PubMed: 26765342]
[Full Text: https://doi.org/10.1038/gim.2015.188]
</p>
</li>
<li>
<p class="mim-text-font">
Wertelecki, W., Smith, L. T., Byers, P.
<strong>Initial observations of human dermatosparaxis: Ehlers-Danlos syndrome type VIIC.</strong>
J. Pediat. 121: 558-564, 1992.
[PubMed: 1403389]
[Full Text: https://doi.org/10.1016/s0022-3476(05)81144-8]
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Ada Hamosh - updated : 10/19/2018<br>Cassandra L. Kniffin - updated : 12/29/2008<br>Cassandra L. Kniffin - updated : 7/2/2008<br>Cassandra L. Kniffin - updated : 12/27/2004<br>Victor A. McKusick - updated : 1/11/2000<br>Iosif W. Lurie - updated : 9/17/1996
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