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Entry
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- #127000 - KENNY-CAFFEY SYNDROME, TYPE 2; KCS2
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- OMIM
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<p>
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<span class="h4">#127000</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/127000"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS127000"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</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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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=KENNY-CAFFEY SYNDROME, TYPE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2185&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Kenny-Caffey syndrome </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12262&Typ=Pat" title="Autosomal dominant Kenny-Caffey syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Autosomal dominant Kenny-C… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK590151/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=127000[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>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2333" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Kenny-Caffey syndrome</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93325" title="Autosomal dominant Kenny-Caffey syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Autosomal dominant Kenny-C…</a></div>
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</div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/e6cbf1e8-ecb6-41d7-a4e7-db11a51e8683/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div style="display: table-cell;">Animal Models</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080723" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/127000" 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>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 82837002<br />
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<strong>ORPHA:</strong> 2333, 93325<br />
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<strong>DO:</strong> 0080723<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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127000
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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KENNY-CAFFEY SYNDROME, TYPE 2; KCS2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA<br />
|
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KENNY SYNDROME
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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<a href="/geneMap/11/413?start=-3&limit=10&highlight=413">
|
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11q12.1
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Kenny-Caffey syndrome, type 2
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/127000"> 127000 </a>
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</span>
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</td>
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<td>
|
|
<span class="mim-font">
|
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|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
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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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</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
FAM111A
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615292"> 615292 </a>
|
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</span>
|
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</td>
|
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</tr>
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</tbody>
|
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</table>
|
|
</div>
|
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</div>
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<div>
|
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|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/127000" 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>
|
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|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS127000" 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>
|
|
</button>
|
|
</div>
|
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|
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|
|
<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/127000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/127000" 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>
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|
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature, severe <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>]</span> <span class="mim-feature-ids hidden">[UMLS: <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>]</span> <span class="mim-feature-ids hidden">[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>]</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><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Weight </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Low birth weight <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276610007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276610007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267258002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267258002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024032&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024032</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001518</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">
|
|
|
|
- Macrocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12138000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12138000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1145403003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1145403003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221355</a>, <a href="https://bioportal.bioontology.org/search?q=C2243051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2243051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001355</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Macrocephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><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">
|
|
|
|
- Prominent forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837260</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011220" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011220</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011220" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011220</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=a2091161c29564b62e12b608022a4044" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Forehead,Prominent-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=a2091161c29564b62e12b608022a4044" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hyperopia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38101003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38101003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H52.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H52.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/367.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">367.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020490&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020490</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000540</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000540</a>]</span><br /> -
|
|
Microphthalmia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204108000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204108000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61142002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61142002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q11.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q11.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026010&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026010</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span><br /> -
|
|
Papilledema <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/423341008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">423341008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248487006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248487006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/73221001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">73221001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H46.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H46.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.10</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/377.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.31</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/377.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/377.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030353&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030353</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001085" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001085</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001085" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001085</a>]</span><br /> -
|
|
Corneal and retinal calcification <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3810460&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3810460</a>]</span><br /> -
|
|
Congenital cataracts (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/79410001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">79410001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q12.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q12.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009691&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009691</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000519</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000519</a>]</span><br />
|
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</span>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Defective dentition (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805522&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805522</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Genitalia (Male) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Microorchidism <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805515&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805515</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Osteosclerosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49347007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49347007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q78.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q78.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029464&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029464</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011001</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011001</a>]</span><br /> -
|
|
Thickened cortex of long bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840418&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840418</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000935" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000935</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000935" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000935</a>]</span><br /> -
|
|
Dense tubular bones and narrow marrow cavities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805516&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805516</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skull </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Delayed closure of 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><br /> -
|
|
Macrocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12138000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12138000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1145403003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1145403003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221355</a>, <a href="https://bioportal.bioontology.org/search?q=C2243051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2243051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001355</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Macrocephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
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|
|
|
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|
|
|
|
</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">
|
|
|
|
- Normal intelligence <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26941006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26941006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423900&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423900</a>]</span><br /> -
|
|
Tetany, hypocalcemic, episodic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805514</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/190869004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">190869004</a>]</span><br /> -
|
|
Basal ganglia calcification <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16818591000119108" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16818591000119108</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G23.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G23.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1389280&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1389280</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002135" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002135</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002135" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002135</a>]</span><br /> -
|
|
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> VOICE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- High-pitched voice (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51406002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51406002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241703&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241703</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001620" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001620</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001620" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001620</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
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|
|
|
</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
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- Low parathyroid hormone <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36976004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36976004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/E20.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E20.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/252.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">252.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020626&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020626</a>, <a href="https://bioportal.bioontology.org/search?q=C0856879&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0856879</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000829</a>]</span><br /> -
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Low calcitonin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0860982&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0860982</a>]</span><br /> -
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Small to absent parathyroid glands <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805513&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805513</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> HEMATOLOGY </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Anemia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271737000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271737000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D64.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D64.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/285.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">285.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002871&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002871</a>, <a href="https://bioportal.bioontology.org/search?q=C1000483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1000483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Hypocalcemia, transient <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805517&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805517</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5291005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5291005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E83.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E83.51</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/275.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">275.41</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002901" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002901</a>]</span><br /> -
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Hyperphosphatemia, transient <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805518&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805518</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20165001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20165001</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002905" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002905</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the family with sequence similarity 111, member A gene (FAM111A, <a href="/entry/615292#0001">615292.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Kenny-Caffey syndrome
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- <a href="/phenotypicSeries/PS127000">PS127000</a>
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- 2 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Phenotype<br />mapping key</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Phenotype<br />MIM number</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Gene/Locus</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Gene/Locus<br />MIM number</strong>
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/1817?start=-3&limit=10&highlight=1817"> 1q42.3 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/244460"> Kenny-Caffey syndrome, type 1 </a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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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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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/244460"> 244460 </a>
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/604934"> TBCE </a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/604934"> 604934 </a>
|
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</span>
|
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</td>
|
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
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<a href="/geneMap/11/413?start=-3&limit=10&highlight=413"> 11q12.1 </a>
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|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/127000"> Kenny-Caffey syndrome, type 2 </a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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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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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/127000"> 127000 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/615292"> FAM111A </a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/615292"> 615292 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div class="text-right small">
|
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant Kenny-Caffey syndrome (KCS2) is caused by heterozygous mutation in the FAM111A gene (<a href="/entry/615292">615292</a>) on chromosome 11q12.</p><p>Gracile bone dysplasia (GCLEB; <a href="/entry/602361">602361</a>) is also caused by mutation in the FAM111A gene.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Kenny-Caffey syndrome (KCS) is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. Patients with autosomal dominant KCS type 2 (KCS2) have normal intelligence (<a href="#10" class="mim-tip-reference" title="Kenny, F. M., Linarelli, L. <strong>Dwarfism and cortical thickening of tubular bones: transient hypocalcemia in a mother and son.</strong> Am. J. Dis. Child. 111: 201-207, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5322798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5322798</a>] [<a href="https://doi.org/10.1001/archpedi.1966.02090050133013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5322798">Kenny and Linarelli, 1966</a>; <a href="#3" class="mim-tip-reference" title="Caffey, J. P. <strong>Congenital stenosis of medullary spaces in tubular bones and calvaria in two proportionate dwarfs, mother and son, coupled with transitory hypocalcemic tetany.</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 100: 1-11, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6023894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6023894</a>] [<a href="https://doi.org/10.2214/ajr.100.1.1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6023894">Caffey, 1967</a>; summary by <a href="#9" class="mim-tip-reference" title="Isojima, T., Doi, K., Mitsui, J., Oda, Y., Tokuhiro, E., Yasoda, A., Yorijuji, T., Horikawa, R., Yoshimura, J., Ishiura, H., Morishita, S., Tsuji, S., Kitanaka, S. <strong>A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.</strong> J. Bone Miner. Res. 29: 992-998, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23996431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23996431</a>] [<a href="https://doi.org/10.1002/jbmr.2091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23996431">Isojima et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5322798+23996431+6023894" 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>See KCS1 (<a href="/entry/244460">244460</a>) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#10" class="mim-tip-reference" title="Kenny, F. M., Linarelli, L. <strong>Dwarfism and cortical thickening of tubular bones: transient hypocalcemia in a mother and son.</strong> Am. J. Dis. Child. 111: 201-207, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5322798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5322798</a>] [<a href="https://doi.org/10.1001/archpedi.1966.02090050133013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5322798">Kenny and Linarelli (1966)</a> described mother and son who were markedly dwarfed with dense tubular bones and narrow marrow cavities. Both had self-limited bouts of hypocalcemia and hyperphosphatemia documented at age 39 years in the mother and age 1 to 15 weeks in the son. Associated features were delayed closure of the fontanel, myopia and low birth weight. Mentation was normal. Radiologic features were presented in detail by <a href="#3" class="mim-tip-reference" title="Caffey, J. P. <strong>Congenital stenosis of medullary spaces in tubular bones and calvaria in two proportionate dwarfs, mother and son, coupled with transitory hypocalcemic tetany.</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 100: 1-11, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6023894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6023894</a>] [<a href="https://doi.org/10.2214/ajr.100.1.1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6023894">Caffey (1967)</a>. The mother was 48 inches tall at age 39 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5322798+6023894" 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>An isolated case was reported by <a href="#16" class="mim-tip-reference" title="Wilson, M. G., Maronde, R. F., Mikity, V. G., Shinno, N. W. <strong>Dwarfism and congenital medullary stenosis (Kenny syndrome).</strong> Birth Defects Orig. Art. Ser. X(12): 128-132, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4156651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4156651</a>]" pmid="4156651">Wilson et al. (1974)</a>. <a href="#2" class="mim-tip-reference" title="Boynton, J. R., Pheasant, T. R., Johnson, B. L., Levin, D. B., Streeten, B. W. <strong>Ocular findings in Kenny's syndrome.</strong> Arch. Ophthal. 97: 896-900, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/444124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">444124</a>] [<a href="https://doi.org/10.1001/archopht.1979.01020010454012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="444124">Boynton et al. (1979)</a> pointed out that the severe refractive error is hyperopia, not myopia. Nanophthalmos is responsible for the hyperopia. Corneal and retinal calcification was found in an autopsy case. One patient showed pseudodoubling of the optic papilla. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4156651+444124" 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="McKusick, V. A. <strong>Personal Communication.</strong> Baltimore, Md. 1980."None>McKusick (1980)</a> observed severe hypermetropia and apparent papilledema thought to represent pseudotumor cerebri in a 6-year-old boy with Kenny-Caffey syndrome. <a href="#2" class="mim-tip-reference" title="Boynton, J. R., Pheasant, T. R., Johnson, B. L., Levin, D. B., Streeten, B. W. <strong>Ocular findings in Kenny's syndrome.</strong> Arch. Ophthal. 97: 896-900, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/444124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">444124</a>] [<a href="https://doi.org/10.1001/archopht.1979.01020010454012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="444124">Boynton et al. (1979)</a> described a similar finding, with tortuous and dilated retinal vessels. They reported the only known autopsy case in a patient who died at age 19. Parathyroid tissue could not be found. Calcification was found in the basal ganglia, dentate nuclei, and parts of the cerebrum and cerebellum. The bone cortex is probably not abnormally thick; the small medulla merely leads to a radiographic impression of increased thickness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=444124" 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="#13" class="mim-tip-reference" title="Majewski, F., Rosendahl, W., Ranke, M., Nolte, K. <strong>The Kenny syndrome--a rare type of growth deficiency with tubular stenosis, transient hypoparathyroidism and anomalies of refraction.</strong> Europ. J. Pediat. 136: 21-30, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7215388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7215388</a>] [<a href="https://doi.org/10.1007/BF00441706" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7215388">Majewski et al. (1981)</a> observed transmission from mother to child. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7215388" 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="#12" class="mim-tip-reference" title="Lee, W. K., Vargas, A., Barnes, J., Root, A. W. <strong>The Kenny-Caffey syndrome: growth retardation and hypocalcemia in a young boy.</strong> Am. J. Med. Genet. 14: 773-782, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6342392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6342392</a>] [<a href="https://doi.org/10.1002/ajmg.1320140419" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6342392">Lee et al. (1983)</a> suggested that the hypocalcemia may be due to hypoparathyroidism: serum immunoreactive parathyroid hormone levels remained inappropriately low during spontaneous and induced hypocalcemia. The similarity in severity in males and females supports autosomal inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6342392" 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="Larsen, J. L., Kivlin, J., Odell, W. D. <strong>Unusual cause of short stature.</strong> Am. J. Med. 78: 1025-1032, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3893111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3893111</a>] [<a href="https://doi.org/10.1016/0002-9343(85)90227-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3893111">Larsen et al. (1985)</a> reported the case of a 24-year-old man with short stature (about 152 cm), hypocalcemia, thin head hair, and medullated nerve fibers of both fundi and high hyperopia. <a href="#5" class="mim-tip-reference" title="Fanconi, S., Fischer, J. A., Wieland, P., Atares, M., Fanconi, A., Giedion, A., Prader, A. <strong>Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one.</strong> J. Pediat. 109: 469-475, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3746537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3746537</a>] [<a href="https://doi.org/10.1016/s0022-3476(86)80120-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3746537">Fanconi et al. (1986)</a> found that parathyroid hormone was undetectable in 2 unrelated patients and structurally abnormal in a third. Circulating calcitonin was also undetectable. The most striking clinical features were macrocephaly, delayed closure of the anterior fontanel, and dysmorphic facies. Intelligence was normal. Two had hyperopia with papilledema. All had episodic hypocalcemia and hyperphosphatemia in the first months of life. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3746537+3893111" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Enriquez, E. J., Toledo, F., Bustamante-Cruz, M., Cruz, G. M. <strong>Congenital medullary tubular stenosis: a case of Caffey-Kenny syndrome.</strong> Acta Orthop. Scand. 59: 326-327, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3381667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3381667</a>] [<a href="https://doi.org/10.3109/17453678809149375" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3381667">Enriquez et al. (1988)</a> described a 6-year-old girl who had bilateral congenital cataracts and seizures in addition to medullary tubular stenosis. The mother and the brother had radiographic features of the bone disorder with no clinical signs or symptoms. Although both the maternal grandparents and the parents were consanguineous, inheritance in this family was probably autosomal dominant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3381667" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an affected 18-month-old girl, <a href="#1" class="mim-tip-reference" title="Bergada, I., Schiffrin, A., Abu Srair, H., Kaplan, P., Dornan, J., Goltzman, D., Hendy, G. N. <strong>Kenny syndrome: description of additional abnormalities and molecular studies.</strong> Hum. Genet. 80: 39-42, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2843457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2843457</a>] [<a href="https://doi.org/10.1007/BF00451452" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2843457">Bergada et al. (1988)</a> found growth retardation, bilateral hyperopia with poor macular development, persistently open anterior fontanel, anemia, severe hypoparathyroidism, and typical radiologic skeletal features. Analysis of restriction patterns of DNA with human parathyroid hormone probes showed no gross abnormality of the PTH gene that could contribute to the hypoparathyroidism. In addition to previously described characteristics of the syndrome, hypoplastic nails, persistent neutropenia, abnormal T-cell function, and neonatal liver disease were observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2843457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Franceschini, P., Testa, A., Bogetti, G., Girardo, E., Guala, A., Lopez-Bell, G., Buzio, G., Ferrario, E., Piccato, E. <strong>Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant.</strong> Am. J. Med. Genet. 42: 112-116, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1308349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1308349</a>] [<a href="https://doi.org/10.1002/ajmg.1320420123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1308349">Franceschini et al. (1992)</a> described 2 sibs with KCS and reviewed 24 reported cases, most of which were familial with probable autosomal dominant inheritance. The major manifestations were dwarfism, cortical thickening with medullary stenosis of the tubular bones, and delayed fontanel closure. Occasional symptomatic hypocalcemia was present in 18 of 21 cases with onset from the first few days of life to the fourth decade. Eye abnormalities were present in 17 of 24 cases, and low parathyroid hormone was found in 6 of 11. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1308349" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Hoffman, W. H., Kovacs, K., Li, S., Kulharya, A. S., Johnson, B. L., Eidson, M. S., Cleveland, W. W. <strong>Kenny-Caffey syndrome and microorchidism.</strong> Am. J. Med. Genet. 80: 107-111, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9805124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9805124</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19981102)80:2<107::aid-ajmg3>3.0.co;2-v" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9805124">Hoffman et al. (1998)</a> found reports of 5 pubertal or adult-age male patients with KCS, all of whom had findings suggestive of microorchidism or infertility. They reported a 17-year-old boy with KCS who had microorchidism and elevated serum follicle-stimulating hormone levels. They also presented the testicular and pituitary histologic findings on another patient with KCS and microorchidism, who died at the age of 19 years. The first patient had normal levels of luteinizing hormone and testosterone. There was no evidence of a microdeletion of the Y chromosome. The second patient had Leydig cell hyperplasia with normal seminiferous tubules and spermatogenesis, and normal pituitary histologic findings at autopsy. The report confirmed the previous observations of microorchidism and suggested subfertility, but did not fully clarify the pathogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9805124" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The heterozygous mutations in the FAM111A gene that were identified in patients with KCS2 by <a href="#15" class="mim-tip-reference" title="Unger, S., Gorna, M. W., Le Bechec, A., Do Vale-Pereira, S., Bedeschi, M. F., Geiberger, S., Grigelioniene, G., Horemuzova, E., Lalatta, F., Lausch, E., Magnani, C., Nampoorthiri, S., and 12 others. <strong>FAM111A mutations result in hypoparathyroidism and impaired skeletal development.</strong> Am. J. Hum. Genet. 92: 990-995, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23684011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23684011</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23684011[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.04.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23684011">Unger et al. (2013)</a> occurred de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23684011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 5 patients with autosomal dominant Kenny-Caffey syndrome and 5 patients with gracile bone dysplasia (<a href="/entry/602361">602361</a>), <a href="#15" class="mim-tip-reference" title="Unger, S., Gorna, M. W., Le Bechec, A., Do Vale-Pereira, S., Bedeschi, M. F., Geiberger, S., Grigelioniene, G., Horemuzova, E., Lalatta, F., Lausch, E., Magnani, C., Nampoorthiri, S., and 12 others. <strong>FAM111A mutations result in hypoparathyroidism and impaired skeletal development.</strong> Am. J. Hum. Genet. 92: 990-995, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23684011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23684011</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23684011[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.04.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23684011">Unger et al. (2013)</a> identified heterozygous mutations in the FAM111A gene (see <a href="/entry/615292#0001">615292.0001</a>-<a href="/entry/615292#0006">615292.0006</a>). In the 7 families in which DNA was available from both parents, the mutations were confirmed to have arisen de novo. None of the mutations were found in the 1000 Genomes Project or NHLBI Exome Variant Server databases. The authors concluded that KCS2 and gracile bone dysplasia represent allelic disorders of differing severity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23684011" 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 href="#Frech1968" class="mim-tip-reference" title="Frech, R. S., McAlister, W. H. <strong>Medullary stenosis of the tubular bones associated with hypocalcemic convulsions and short stature.</strong> Radiology 91: 457-461, 1968.">Frech and McAlister (1968)</a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2843457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2843457</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2843457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00451452" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Boynton1979" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Boynton, J. R., Pheasant, T. R., Johnson, B. L., Levin, D. B., Streeten, B. W.
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<strong>Ocular findings in Kenny's syndrome.</strong>
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Arch. Ophthal. 97: 896-900, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/444124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">444124</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=444124" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archopht.1979.01020010454012" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Caffey1967" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Caffey, J. P.
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<strong>Congenital stenosis of medullary spaces in tubular bones and calvaria in two proportionate dwarfs, mother and son, coupled with transitory hypocalcemic tetany.</strong>
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Am. J. Roentgen. Radium Ther. Nucl. Med. 100: 1-11, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6023894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6023894</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6023894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.2214/ajr.100.1.1" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Enriquez1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Enriquez, E. J., Toledo, F., Bustamante-Cruz, M., Cruz, G. M.
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<strong>Congenital medullary tubular stenosis: a case of Caffey-Kenny syndrome.</strong>
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Acta Orthop. Scand. 59: 326-327, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3381667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3381667</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3381667" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.3109/17453678809149375" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Fanconi1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Fanconi, S., Fischer, J. A., Wieland, P., Atares, M., Fanconi, A., Giedion, A., Prader, A.
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<strong>Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one.</strong>
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J. Pediat. 109: 469-475, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3746537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3746537</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3746537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(86)80120-2" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Franceschini1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Franceschini, P., Testa, A., Bogetti, G., Girardo, E., Guala, A., Lopez-Bell, G., Buzio, G., Ferrario, E., Piccato, E.
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<strong>Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant.</strong>
|
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Am. J. Med. Genet. 42: 112-116, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1308349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1308349</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1308349" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320420123" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Frech1968" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Frech, R. S., McAlister, W. H.
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<strong>Medullary stenosis of the tubular bones associated with hypocalcemic convulsions and short stature.</strong>
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Radiology 91: 457-461, 1968.
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</p>
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<a id="8" class="mim-anchor"></a>
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<a id="Hoffman1998" class="mim-anchor"></a>
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<div class="">
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Hoffman, W. H., Kovacs, K., Li, S., Kulharya, A. S., Johnson, B. L., Eidson, M. S., Cleveland, W. W.
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<strong>Kenny-Caffey syndrome and microorchidism.</strong>
|
|
Am. J. Med. Genet. 80: 107-111, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9805124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9805124</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9805124" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19981102)80:2<107::aid-ajmg3>3.0.co;2-v" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="Isojima2014" class="mim-anchor"></a>
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<div class="">
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Isojima, T., Doi, K., Mitsui, J., Oda, Y., Tokuhiro, E., Yasoda, A., Yorijuji, T., Horikawa, R., Yoshimura, J., Ishiura, H., Morishita, S., Tsuji, S., Kitanaka, S.
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|
<strong>A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.</strong>
|
|
J. Bone Miner. Res. 29: 992-998, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23996431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23996431</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23996431" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/jbmr.2091" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Kenny1966" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kenny, F. M., Linarelli, L.
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<strong>Dwarfism and cortical thickening of tubular bones: transient hypocalcemia in a mother and son.</strong>
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Am. J. Dis. Child. 111: 201-207, 1966.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5322798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5322798</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5322798" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archpedi.1966.02090050133013" target="_blank">Full Text</a>]
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Larsen1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Larsen, J. L., Kivlin, J., Odell, W. D.
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<strong>Unusual cause of short stature.</strong>
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Am. J. Med. 78: 1025-1032, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3893111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3893111</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3893111" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0002-9343(85)90227-x" target="_blank">Full Text</a>]
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Lee1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lee, W. K., Vargas, A., Barnes, J., Root, A. W.
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<strong>The Kenny-Caffey syndrome: growth retardation and hypocalcemia in a young boy.</strong>
|
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Am. J. Med. Genet. 14: 773-782, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6342392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6342392</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6342392" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320140419" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
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<a id="Majewski1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Majewski, F., Rosendahl, W., Ranke, M., Nolte, K.
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<strong>The Kenny syndrome--a rare type of growth deficiency with tubular stenosis, transient hypoparathyroidism and anomalies of refraction.</strong>
|
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Europ. J. Pediat. 136: 21-30, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7215388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7215388</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7215388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00441706" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
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<a id="McKusick1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McKusick, V. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 1980.
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<a id="15" class="mim-anchor"></a>
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<a id="Unger2013" class="mim-anchor"></a>
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Unger, S., Gorna, M. W., Le Bechec, A., Do Vale-Pereira, S., Bedeschi, M. F., Geiberger, S., Grigelioniene, G., Horemuzova, E., Lalatta, F., Lausch, E., Magnani, C., Nampoorthiri, S., and 12 others.
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<strong>FAM111A mutations result in hypoparathyroidism and impaired skeletal development.</strong>
|
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Am. J. Hum. Genet. 92: 990-995, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23684011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23684011</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23684011[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23684011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2013.04.020" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
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<a id="Wilson1974" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wilson, M. G., Maronde, R. F., Mikity, V. G., Shinno, N. W.
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<strong>Dwarfism and congenital medullary stenosis (Kenny syndrome).</strong>
|
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Birth Defects Orig. Art. Ser. X(12): 128-132, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4156651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4156651</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4156651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<br />
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 7/23/2013
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 4/12/1999<br>Victor A. McKusick - updated : 12/3/1998
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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carol : 12/20/2023
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carol : 09/25/2023<br>alopez : 09/22/2023<br>carol : 06/02/2017<br>carol : 03/02/2015<br>carol : 7/23/2013<br>carol : 7/23/2013<br>carol : 5/19/2009<br>carol : 5/18/2009<br>mgross : 3/17/2004<br>carol : 5/18/1999<br>carol : 4/14/1999<br>terry : 4/12/1999<br>carol : 1/26/1999<br>carol : 12/9/1998<br>dkim : 12/9/1998<br>terry : 12/3/1998<br>mimadm : 6/25/1994<br>supermim : 3/16/1992<br>carol : 1/22/1992<br>carol : 8/7/1991<br>supermim : 3/20/1990<br>ddp : 10/26/1989
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<span class="mim-font">
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<strong>#</strong> 127000
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<h3>
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KENNY-CAFFEY SYNDROME, TYPE 2; KCS2
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</h3>
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<em>Alternative titles; symbols</em>
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DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA<br />
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KENNY SYNDROME
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<strong>SNOMEDCT:</strong> 82837002;
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<strong>ORPHA:</strong> 2333, 93325;
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<strong>DO:</strong> 0080723;
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<h4>
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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<th>
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Phenotype
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<th>
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Phenotype <br /> MIM number
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<th>
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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">
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11q12.1
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</td>
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<td>
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<span class="mim-font">
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Kenny-Caffey syndrome, type 2
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</td>
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<span class="mim-font">
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127000
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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<span class="mim-font">
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FAM111A
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<td>
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<span class="mim-font">
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615292
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant Kenny-Caffey syndrome (KCS2) is caused by heterozygous mutation in the FAM111A gene (615292) on chromosome 11q12.</p><p>Gracile bone dysplasia (GCLEB; 602361) is also caused by mutation in the FAM111A gene.</p>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Kenny-Caffey syndrome (KCS) is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. Patients with autosomal dominant KCS type 2 (KCS2) have normal intelligence (Kenny and Linarelli, 1966; Caffey, 1967; summary by Isojima et al., 2014). </p><p>See KCS1 (244460) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome.</p>
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<strong>Clinical Features</strong>
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<p>Kenny and Linarelli (1966) described mother and son who were markedly dwarfed with dense tubular bones and narrow marrow cavities. Both had self-limited bouts of hypocalcemia and hyperphosphatemia documented at age 39 years in the mother and age 1 to 15 weeks in the son. Associated features were delayed closure of the fontanel, myopia and low birth weight. Mentation was normal. Radiologic features were presented in detail by Caffey (1967). The mother was 48 inches tall at age 39 years. </p><p>An isolated case was reported by Wilson et al. (1974). Boynton et al. (1979) pointed out that the severe refractive error is hyperopia, not myopia. Nanophthalmos is responsible for the hyperopia. Corneal and retinal calcification was found in an autopsy case. One patient showed pseudodoubling of the optic papilla. </p><p>McKusick (1980) observed severe hypermetropia and apparent papilledema thought to represent pseudotumor cerebri in a 6-year-old boy with Kenny-Caffey syndrome. Boynton et al. (1979) described a similar finding, with tortuous and dilated retinal vessels. They reported the only known autopsy case in a patient who died at age 19. Parathyroid tissue could not be found. Calcification was found in the basal ganglia, dentate nuclei, and parts of the cerebrum and cerebellum. The bone cortex is probably not abnormally thick; the small medulla merely leads to a radiographic impression of increased thickness. </p><p>Majewski et al. (1981) observed transmission from mother to child. </p><p>Lee et al. (1983) suggested that the hypocalcemia may be due to hypoparathyroidism: serum immunoreactive parathyroid hormone levels remained inappropriately low during spontaneous and induced hypocalcemia. The similarity in severity in males and females supports autosomal inheritance. </p><p>Larsen et al. (1985) reported the case of a 24-year-old man with short stature (about 152 cm), hypocalcemia, thin head hair, and medullated nerve fibers of both fundi and high hyperopia. Fanconi et al. (1986) found that parathyroid hormone was undetectable in 2 unrelated patients and structurally abnormal in a third. Circulating calcitonin was also undetectable. The most striking clinical features were macrocephaly, delayed closure of the anterior fontanel, and dysmorphic facies. Intelligence was normal. Two had hyperopia with papilledema. All had episodic hypocalcemia and hyperphosphatemia in the first months of life. </p><p>Enriquez et al. (1988) described a 6-year-old girl who had bilateral congenital cataracts and seizures in addition to medullary tubular stenosis. The mother and the brother had radiographic features of the bone disorder with no clinical signs or symptoms. Although both the maternal grandparents and the parents were consanguineous, inheritance in this family was probably autosomal dominant. </p><p>In an affected 18-month-old girl, Bergada et al. (1988) found growth retardation, bilateral hyperopia with poor macular development, persistently open anterior fontanel, anemia, severe hypoparathyroidism, and typical radiologic skeletal features. Analysis of restriction patterns of DNA with human parathyroid hormone probes showed no gross abnormality of the PTH gene that could contribute to the hypoparathyroidism. In addition to previously described characteristics of the syndrome, hypoplastic nails, persistent neutropenia, abnormal T-cell function, and neonatal liver disease were observed. </p><p>Franceschini et al. (1992) described 2 sibs with KCS and reviewed 24 reported cases, most of which were familial with probable autosomal dominant inheritance. The major manifestations were dwarfism, cortical thickening with medullary stenosis of the tubular bones, and delayed fontanel closure. Occasional symptomatic hypocalcemia was present in 18 of 21 cases with onset from the first few days of life to the fourth decade. Eye abnormalities were present in 17 of 24 cases, and low parathyroid hormone was found in 6 of 11. </p><p>Hoffman et al. (1998) found reports of 5 pubertal or adult-age male patients with KCS, all of whom had findings suggestive of microorchidism or infertility. They reported a 17-year-old boy with KCS who had microorchidism and elevated serum follicle-stimulating hormone levels. They also presented the testicular and pituitary histologic findings on another patient with KCS and microorchidism, who died at the age of 19 years. The first patient had normal levels of luteinizing hormone and testosterone. There was no evidence of a microdeletion of the Y chromosome. The second patient had Leydig cell hyperplasia with normal seminiferous tubules and spermatogenesis, and normal pituitary histologic findings at autopsy. The report confirmed the previous observations of microorchidism and suggested subfertility, but did not fully clarify the pathogenesis. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The heterozygous mutations in the FAM111A gene that were identified in patients with KCS2 by Unger et al. (2013) occurred de novo. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 5 patients with autosomal dominant Kenny-Caffey syndrome and 5 patients with gracile bone dysplasia (602361), Unger et al. (2013) identified heterozygous mutations in the FAM111A gene (see 615292.0001-615292.0006). In the 7 families in which DNA was available from both parents, the mutations were confirmed to have arisen de novo. None of the mutations were found in the 1000 Genomes Project or NHLBI Exome Variant Server databases. The authors concluded that KCS2 and gracile bone dysplasia represent allelic disorders of differing severity. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Frech and McAlister (1968)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Bergada, I., Schiffrin, A., Abu Srair, H., Kaplan, P., Dornan, J., Goltzman, D., Hendy, G. N.
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<strong>Kenny syndrome: description of additional abnormalities and molecular studies.</strong>
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Hum. Genet. 80: 39-42, 1988.
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[PubMed: 2843457]
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[Full Text: https://doi.org/10.1007/BF00451452]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Boynton, J. R., Pheasant, T. R., Johnson, B. L., Levin, D. B., Streeten, B. W.
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<strong>Ocular findings in Kenny's syndrome.</strong>
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Arch. Ophthal. 97: 896-900, 1979.
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[PubMed: 444124]
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[Full Text: https://doi.org/10.1001/archopht.1979.01020010454012]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Caffey, J. P.
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<strong>Congenital stenosis of medullary spaces in tubular bones and calvaria in two proportionate dwarfs, mother and son, coupled with transitory hypocalcemic tetany.</strong>
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Am. J. Roentgen. Radium Ther. Nucl. Med. 100: 1-11, 1967.
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[PubMed: 6023894]
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[Full Text: https://doi.org/10.2214/ajr.100.1.1]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Enriquez, E. J., Toledo, F., Bustamante-Cruz, M., Cruz, G. M.
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<strong>Congenital medullary tubular stenosis: a case of Caffey-Kenny syndrome.</strong>
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Acta Orthop. Scand. 59: 326-327, 1988.
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[PubMed: 3381667]
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[Full Text: https://doi.org/10.3109/17453678809149375]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Fanconi, S., Fischer, J. A., Wieland, P., Atares, M., Fanconi, A., Giedion, A., Prader, A.
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<strong>Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one.</strong>
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J. Pediat. 109: 469-475, 1986.
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[PubMed: 3746537]
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[Full Text: https://doi.org/10.1016/s0022-3476(86)80120-2]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Franceschini, P., Testa, A., Bogetti, G., Girardo, E., Guala, A., Lopez-Bell, G., Buzio, G., Ferrario, E., Piccato, E.
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<strong>Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant.</strong>
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Am. J. Med. Genet. 42: 112-116, 1992.
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[PubMed: 1308349]
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[Full Text: https://doi.org/10.1002/ajmg.1320420123]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Frech, R. S., McAlister, W. H.
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<strong>Medullary stenosis of the tubular bones associated with hypocalcemic convulsions and short stature.</strong>
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Radiology 91: 457-461, 1968.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hoffman, W. H., Kovacs, K., Li, S., Kulharya, A. S., Johnson, B. L., Eidson, M. S., Cleveland, W. W.
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<strong>Kenny-Caffey syndrome and microorchidism.</strong>
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Am. J. Med. Genet. 80: 107-111, 1998.
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[PubMed: 9805124]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(19981102)80:2<107::aid-ajmg3>3.0.co;2-v]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Isojima, T., Doi, K., Mitsui, J., Oda, Y., Tokuhiro, E., Yasoda, A., Yorijuji, T., Horikawa, R., Yoshimura, J., Ishiura, H., Morishita, S., Tsuji, S., Kitanaka, S.
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<strong>A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.</strong>
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J. Bone Miner. Res. 29: 992-998, 2014.
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[PubMed: 23996431]
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[Full Text: https://doi.org/10.1002/jbmr.2091]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kenny, F. M., Linarelli, L.
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<strong>Dwarfism and cortical thickening of tubular bones: transient hypocalcemia in a mother and son.</strong>
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Am. J. Dis. Child. 111: 201-207, 1966.
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[PubMed: 5322798]
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[Full Text: https://doi.org/10.1001/archpedi.1966.02090050133013]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Larsen, J. L., Kivlin, J., Odell, W. D.
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<strong>Unusual cause of short stature.</strong>
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Am. J. Med. 78: 1025-1032, 1985.
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[PubMed: 3893111]
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[Full Text: https://doi.org/10.1016/0002-9343(85)90227-x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lee, W. K., Vargas, A., Barnes, J., Root, A. W.
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<strong>The Kenny-Caffey syndrome: growth retardation and hypocalcemia in a young boy.</strong>
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Am. J. Med. Genet. 14: 773-782, 1983.
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[PubMed: 6342392]
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[Full Text: https://doi.org/10.1002/ajmg.1320140419]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Majewski, F., Rosendahl, W., Ranke, M., Nolte, K.
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<strong>The Kenny syndrome--a rare type of growth deficiency with tubular stenosis, transient hypoparathyroidism and anomalies of refraction.</strong>
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Europ. J. Pediat. 136: 21-30, 1981.
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[PubMed: 7215388]
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[Full Text: https://doi.org/10.1007/BF00441706]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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McKusick, V. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 1980.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Unger, S., Gorna, M. W., Le Bechec, A., Do Vale-Pereira, S., Bedeschi, M. F., Geiberger, S., Grigelioniene, G., Horemuzova, E., Lalatta, F., Lausch, E., Magnani, C., Nampoorthiri, S., and 12 others.
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<strong>FAM111A mutations result in hypoparathyroidism and impaired skeletal development.</strong>
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Am. J. Hum. Genet. 92: 990-995, 2013.
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[PubMed: 23684011]
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[Full Text: https://doi.org/10.1016/j.ajhg.2013.04.020]
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Wilson, M. G., Maronde, R. F., Mikity, V. G., Shinno, N. W.
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<strong>Dwarfism and congenital medullary stenosis (Kenny syndrome).</strong>
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Birth Defects Orig. Art. Ser. X(12): 128-132, 1974.
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[PubMed: 4156651]
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Marla J. F. O'Neill - updated : 7/23/2013<br>Victor A. McKusick - updated : 4/12/1999<br>Victor A. McKusick - updated : 12/3/1998
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Victor A. McKusick : 6/4/1986
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