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Entry
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- #174400 - POLYDACTYLY, PREAXIAL I; PPD1
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- OMIM
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<span class="h4">#174400</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/PS174400"> <strong>Phenotypic Series</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="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(POLYDACTYLY, PREAXIAL I) OR (GLI1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12274&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/5833" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=174400[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="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93339" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0060987" 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/174400" 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>
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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> 205135003<br />
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<strong>ICD10CM:</strong> Q69.1<br />
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<strong>ORPHA:</strong> 93339<br />
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<strong>DO:</strong> 0060987<br />
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">ICD+</a>
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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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174400
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</span>
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</span>
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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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POLYDACTYLY, PREAXIAL I; PPD1
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</h3>
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</div>
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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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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POLYDACTYLY, PREAXIAL<br />
|
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THUMB POLYDACTYLY
|
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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="includedTitles" 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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Other entities represented in this entry:
|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<span class="h3 mim-font">
|
|
THENAR HYPOPLASIA, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
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<div>
|
|
<span class="h4 mim-font">
|
|
|
|
FROMONT ANOMALY, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
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</div>
|
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/12/540?start=-3&limit=10&highlight=540">
|
|
12q13.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Polydactyly, preaxial I
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/174400"> 174400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
GLI1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/165220"> 165220 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
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|
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|
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|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/174400" 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>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS174400" 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>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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/174400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/174400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
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|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Duplication of distal phalanx of thumbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4021425&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4021425</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009612" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009612</a>]</span><br /> -
|
|
Bifid thumb <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51219000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51219000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4082168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4082168</a>, <a href="https://bioportal.bioontology.org/search?q=C0265608&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265608</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009944" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009944</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009944" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009944</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Based on report of 2 cousins from a consanguineous Pakistani family (last curated April 2019)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the glioma-associated oncogene homolog (GLI1, <a href="/entry/165220#0004">165220.0004</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Polydactyly, preaxial
|
|
- <a href="/phenotypicSeries/PS174400">PS174400</a>
|
|
- 5 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/211?start=-3&limit=10&highlight=211"> 7p14.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/174700"> Polydactyly, preaxial, type IV </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/174700"> 174700 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/165240"> GLI3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/165240"> 165240 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/858?start=-3&limit=10&highlight=858"> 7q36.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/174500"> Triphalangeal thumb </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/174500"> 174500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620738"> ZRS </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620738"> 620738 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/858?start=-3&limit=10&highlight=858"> 7q36.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/174500"> Polydactyly, preaxial II </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/174500"> 174500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620738"> ZRS </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620738"> 620738 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/540?start=-3&limit=10&highlight=540"> 12q13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/174400"> Polydactyly, preaxial I </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
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<p>A number sign (#) is used with this entry because of evidence that preaxial polydactyly I (PPD1) is caused by homozygous mutation in the GLI1 gene (<a href="/entry/165220">165220</a>) on chromosome 12q13. One such family has been reported.</p><p>Homozygous mutation in the GLI1 gene has also been reported to cause postaxial polydactyly type A8 (PAPA8; <a href="/entry/618123">618123</a>).</p>
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<p>Preaxial polydactyly, i.e., polydactyly on the radial side of the hand, is a heterogeneous category. Four types are: (1) thumb polydactyly, (2) polydactyly of triphalangeal thumb, (3) polydactyly of index finger, and (4) polysyndactyly. Preaxial polydactyly I, 'thumb polydactyly,' involves duplication of 1 or more of the skeletal components of a biphalangeal thumb. Severity varies from mere broadening of the distal phalanx with slight bifurcation at the tip to full duplication of the thumb including the metacarpals. This type is the most frequent form of polydactyly in many populations (<a href="#9" class="mim-tip-reference" title="Handforth, J. R. <strong>Polydactylism of hand in southern Chinese.</strong> Anat. Rec. 106: 119-125, 1950.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15405667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15405667</a>] [<a href="https://doi.org/10.1002/ar.1091060202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15405667">Handforth, 1950</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15405667" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Digby, K. <strong>The Immortality of Reasonable Souls.</strong> London: John Williams (pub.) 1645."None>Digby (1645)</a> reported preaxial polydactyly, presumably of this type, in females in 5 generations. <a href="#12" class="mim-tip-reference" title="Pott, R. <strong>Ein Beitrag zu den symmetrischen Missbildungen der Finger und Zehen.</strong> Jahrb. Kinderheilk. 21: 392-407, 1884."None>Pott (1884)</a> observed 10 affected (6 females and 4 males) in 3 generations. <a href="#14" class="mim-tip-reference" title="Sinha, S. <strong>Polydactylism and tooth color.</strong> J. Hered. 9: 96 only, 1918."None>Sinha (1918)</a> found irregular segregation in a family with affected persons in 3 generations. In 1 generation, only 1 of 13 persons at risk were affected. <a href="#15" class="mim-tip-reference" title="Sobbota, A., De Marinis, F. <strong>On the inheritance and development of preaxial and postaxial types of polydactylism.</strong> Acta Genet. Med. Gemellol. 6: 85-93, 1957.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13394081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13394081</a>] [<a href="https://doi.org/10.1017/s1120962300020096" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13394081">Sobbota and De Marinis (1957)</a> observed a girl with bilateral thumb polydactyly whose mother had radial deviation of the terminal phalanx (a feature that Pott also considered a manifestation of the same trait). No male-to-male transmission seems to have been documented. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13394081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Bingle, G. J., Niswander, J. D. <strong>Polydactyly in the American Indian.</strong> Am. J. Hum. Genet. 27: 91-99, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1155454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1155454</a>]" pmid="1155454">Bingle and Niswander (1975)</a> found that polydactyly is about twice as frequent in the American Indian as in Caucasians. Preaxial polydactyly type I was 3 to 4 times more frequent than in Caucasians or Blacks. More females than males were affected. It showed a strong predilection for the hands and was always unilateral, whereas postaxial polydactyly type B was bilateral in more than half of affected persons. Although the evidence suggests that polydactyly is in large part genetically determined, it was difficult to choose between a single autosomal dominant gene with reduced penetrance and a multigenic threshold model involving a few major genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1155454" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Kelly, T. E. <strong>Personal Communication.</strong> Charlottesville, Va. 1/28/1982."None>Kelly (1982)</a> observed a family in which symmetric duplication of the thumbs and great toes was observed over 5 or 6 generations with frequent examples of male-to-male transmission.</p><p><a href="#7" class="mim-tip-reference" title="Graham, J. M., Jr., Hoefnagel, D. <strong>Thumb polydactyly as part of the range of genetic expression for preaxial limb deficiency. (Abstract)</strong> Clin. Res. 30: 133A only, 1982."None>Graham and Hoefnagel (1982)</a> and Graham et al. (<a href="#5" class="mim-tip-reference" title="Graham, J. M., Jr., Brown, F. E., Hall, B. D. <strong>Thumb polydactyly as part of the range of genetic expression for thenar hypoplasia. (Abstract)</strong> Am. J. Hum. Genet. 37: A132 only, 1985."None>1985</a>, <a href="#6" class="mim-tip-reference" title="Graham, J. M., Jr., Brown, F. E., Hall, B. D. <strong>Thumb polydactyly as a part of the range of genetic expression for thenar hypoplasia.</strong> Clin. Pediat. 26: 142-148, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3816011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3816011</a>] [<a href="https://doi.org/10.1177/000992288702600308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3816011">1987</a>) suggested that a minor expression of thumb polydactyly is aplasia or hypoplasia of the thumb musculature and that this trait may more often be autosomal dominant than one would realize from a study of polydactyly alone. They referred to this minor change as Fromont anomaly, after the French anatomist who described it (<a href="#4" class="mim-tip-reference" title="Fromont, (NI). <strong>Anomalies musculaires multiples de la main, absence du flechisseur propre du ponce; absence des muscles de l'eminence thenar; lombricaux supplementaire.</strong> Bull. Soc. Anat. Paris 70: 395-401, 1895."None>Fromont, 1895</a>); see <a href="#8" class="mim-tip-reference" title="Haller, P. <strong>Hereditary abductor--opponens agenesis: report of a family with congenital muscle defects of the thenar eminence.</strong> J. Neurol. 214: 235-238, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/65459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">65459</a>] [<a href="https://doi.org/10.1007/BF00316155" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="65459">Haller (1977)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3816011+65459" 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="Ray, A. K. <strong>A pedigree with bilateral preaxial polydactyly from India.</strong> J. Genet. Hum. 35: 267-274, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3655751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3655751</a>]" pmid="3655751">Ray (1987)</a> reported a family in Andhra Pradesh, India with preaxial polydactyly in 15 males and 5 females in 6 generations. Bilateral duplication of the big toe showed reduced penetrance and variable expressivity. Duplication of the thumb was a less consistent feature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3655751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Castilla, E. E., da Graca Dutra, M., Lugarinho da Fonseca, R., Paz, J. E. <strong>Hand and foot postaxial polydactyly: two different traits.</strong> Am. J. Med. Genet. 73: 48-54, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9375922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9375922</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19971128)73:1<48::aid-ajmg10>3.0.co;2-r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9375922">Castilla et al. (1997)</a> concluded from epidemiologic studies that hand postaxial polydactyly differs from foot postaxial polydactyly. This prompted <a href="#11" class="mim-tip-reference" title="Orioli, I. M., Castilla, E. E. <strong>Thumb/hallux duplication and preaxial polydactyly type I.</strong> Am. J. Med. Genet. 82: 219-224, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10215544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10215544</a>]" pmid="10215544">Orioli and Castilla (1999)</a> to test whether thumb and hallux duplication also had different clinical and epidemiologic characteristics, depending on the limb involved. They studied 920 newborns with first digit duplication, ascertained among 3,444,374 births by the Latin-American Collaborative Study of Congenital Malformations, from 1967 to 1995. Since biphalangeal thumb duplication or hallux duplication can occur in families with triphalangeal thumb or polysyndactyly propositi, these groups were also analyzed. The 715 isolated (nonsyndromal) cases (prevalence 2.08 per 10,000) were subdivided into 5 groups: (1) thumb duplication (n = 568; prevalence = 1.65/10,000); (2) hallux duplication (n = 82; prevalence = 0.24); (3) thumb and/or hallux duplication plus syndactyly (polysyndactyly) (n = 37; prevalence = 0.11); (4) triphalangeal thumb (n = 24; prevalence = 0.07); and (5) thumb duplication plus hallux duplication (n = 4; prevalence = 0.01). Both the thumb and hallux duplication groups showed a significant excess of males, and right-sidedness was also more frequent in both forms though without statistical significance for hallux duplication. Thumb duplication was more often unilateral (94.7% vs. 81.5% for hallux duplication), and its prevalence was higher in Bolivia (3.37/10,000) than in the other 10 Latin-American countries included in this study (1.62/10,000). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10215544+9375922" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Ullah, A., Umair, M., Majeed, A. I., Abdullah, Jan, A., Ahmad, W. <strong>A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly.</strong> Clin. Genet. 95: 540-541, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30620395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30620395</a>] [<a href="https://doi.org/10.1111/cge.13495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30620395">Ullah et al. (2019)</a> reported a consanguineous Pakistani family in which 2 cousins exhibited bilateral preaxial polydactyly of the hands. The authors stated that x-ray showed duplication of the distal phalanx of the thumb (Figure 1 appears to show bifid distal phalanx of the thumb). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30620395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of PPD1 in the family reported by <a href="#16" class="mim-tip-reference" title="Ullah, A., Umair, M., Majeed, A. I., Abdullah, Jan, A., Ahmad, W. <strong>A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly.</strong> Clin. Genet. 95: 540-541, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30620395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30620395</a>] [<a href="https://doi.org/10.1111/cge.13495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30620395">Ullah et al. (2019)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30620395" 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>By genotyping highly polymorphic microsatellite markers in a consanguineous Pakistani family in which 2 cousins exhibited bilateral preaxial polydactyly of the hands, <a href="#16" class="mim-tip-reference" title="Ullah, A., Umair, M., Majeed, A. I., Abdullah, Jan, A., Ahmad, W. <strong>A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly.</strong> Clin. Genet. 95: 540-541, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30620395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30620395</a>] [<a href="https://doi.org/10.1111/cge.13495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30620395">Ullah et al. (2019)</a> established linkage to the GLI1 locus on chromosome 12q13.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30620395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a consanguineous Pakistani family in which 2 cousins exhibited bilateral preaxial polydactyly mapping to chromosome 12q13.3, <a href="#16" class="mim-tip-reference" title="Ullah, A., Umair, M., Majeed, A. I., Abdullah, Jan, A., Ahmad, W. <strong>A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly.</strong> Clin. Genet. 95: 540-541, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30620395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30620395</a>] [<a href="https://doi.org/10.1111/cge.13495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30620395">Ullah et al. (2019)</a> identified homozygosity for a missense mutation in the GLI1 gene (L506Q; <a href="/entry/165220#0004">165220.0004</a>) that segregated fully with disease in the family and was not found in 70 unrelated Pakistani controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30620395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between preaxial polydactyly and mutation in the STKLD1 gene, see <a href="/entry/618530#0001">618530.0001</a>.</p>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3816011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3816011</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3816011" 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/10.1177/000992288702600308" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00316155" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1017/s1120962300020096" target="_blank">Full Text</a>]
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Ullah, A., Umair, M., Majeed, A. I., Abdullah, Jan, A., Ahmad, W.
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<strong>A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly.</strong>
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Clin. Genet. 95: 540-541, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30620395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30620395</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30620395" 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/10.1111/cge.13495" target="_blank">Full Text</a>]
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Victor A. McKusick - updated : 9/24/1999
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Victor A. McKusick : 6/2/1986
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carol : 08/13/2019<br>alopez : 05/02/2019<br>carol : 02/26/2009<br>carol : 1/26/2009<br>carol : 2/26/2001<br>alopez : 10/26/1999<br>terry : 9/24/1999<br>mgross : 3/10/1999<br>carol : 3/1/1999<br>terry : 2/26/1999<br>mimadm : 2/25/1995<br>jason : 7/18/1994<br>davew : 6/9/1994<br>warfield : 3/4/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990
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<span class="mim-font">
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<strong>#</strong> 174400
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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POLYDACTYLY, PREAXIAL I; PPD1
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</span>
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</h3>
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</div>
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<br />
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<div >
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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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POLYDACTYLY, PREAXIAL<br />
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THUMB POLYDACTYLY
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</span>
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</h4>
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</div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</p>
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<div>
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<span class="h3 mim-font">
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THENAR HYPOPLASIA, INCLUDED
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<div>
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<span class="h4 mim-font">
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FROMONT ANOMALY, INCLUDED
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 205135003;
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<strong>ICD10CM:</strong> Q69.1;
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<strong>ORPHA:</strong> 93339;
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<strong>DO:</strong> 0060987;
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</p>
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<div>
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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 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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</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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12q13.3
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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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Polydactyly, preaxial I
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</td>
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<td>
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<span class="mim-font">
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174400
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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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Autosomal recessive
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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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3
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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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GLI1
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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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165220
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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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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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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 preaxial polydactyly I (PPD1) is caused by homozygous mutation in the GLI1 gene (165220) on chromosome 12q13. One such family has been reported.</p><p>Homozygous mutation in the GLI1 gene has also been reported to cause postaxial polydactyly type A8 (PAPA8; 618123).</p>
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</span>
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<div>
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<h4>
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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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<span class="mim-text-font">
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<p>Preaxial polydactyly, i.e., polydactyly on the radial side of the hand, is a heterogeneous category. Four types are: (1) thumb polydactyly, (2) polydactyly of triphalangeal thumb, (3) polydactyly of index finger, and (4) polysyndactyly. Preaxial polydactyly I, 'thumb polydactyly,' involves duplication of 1 or more of the skeletal components of a biphalangeal thumb. Severity varies from mere broadening of the distal phalanx with slight bifurcation at the tip to full duplication of the thumb including the metacarpals. This type is the most frequent form of polydactyly in many populations (Handforth, 1950). </p>
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</span>
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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>Clinical Features</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>Digby (1645) reported preaxial polydactyly, presumably of this type, in females in 5 generations. Pott (1884) observed 10 affected (6 females and 4 males) in 3 generations. Sinha (1918) found irregular segregation in a family with affected persons in 3 generations. In 1 generation, only 1 of 13 persons at risk were affected. Sobbota and De Marinis (1957) observed a girl with bilateral thumb polydactyly whose mother had radial deviation of the terminal phalanx (a feature that Pott also considered a manifestation of the same trait). No male-to-male transmission seems to have been documented. </p><p>Bingle and Niswander (1975) found that polydactyly is about twice as frequent in the American Indian as in Caucasians. Preaxial polydactyly type I was 3 to 4 times more frequent than in Caucasians or Blacks. More females than males were affected. It showed a strong predilection for the hands and was always unilateral, whereas postaxial polydactyly type B was bilateral in more than half of affected persons. Although the evidence suggests that polydactyly is in large part genetically determined, it was difficult to choose between a single autosomal dominant gene with reduced penetrance and a multigenic threshold model involving a few major genes. </p><p>Kelly (1982) observed a family in which symmetric duplication of the thumbs and great toes was observed over 5 or 6 generations with frequent examples of male-to-male transmission.</p><p>Graham and Hoefnagel (1982) and Graham et al. (1985, 1987) suggested that a minor expression of thumb polydactyly is aplasia or hypoplasia of the thumb musculature and that this trait may more often be autosomal dominant than one would realize from a study of polydactyly alone. They referred to this minor change as Fromont anomaly, after the French anatomist who described it (Fromont, 1895); see Haller (1977). </p><p>Ray (1987) reported a family in Andhra Pradesh, India with preaxial polydactyly in 15 males and 5 females in 6 generations. Bilateral duplication of the big toe showed reduced penetrance and variable expressivity. Duplication of the thumb was a less consistent feature. </p><p>Castilla et al. (1997) concluded from epidemiologic studies that hand postaxial polydactyly differs from foot postaxial polydactyly. This prompted Orioli and Castilla (1999) to test whether thumb and hallux duplication also had different clinical and epidemiologic characteristics, depending on the limb involved. They studied 920 newborns with first digit duplication, ascertained among 3,444,374 births by the Latin-American Collaborative Study of Congenital Malformations, from 1967 to 1995. Since biphalangeal thumb duplication or hallux duplication can occur in families with triphalangeal thumb or polysyndactyly propositi, these groups were also analyzed. The 715 isolated (nonsyndromal) cases (prevalence 2.08 per 10,000) were subdivided into 5 groups: (1) thumb duplication (n = 568; prevalence = 1.65/10,000); (2) hallux duplication (n = 82; prevalence = 0.24); (3) thumb and/or hallux duplication plus syndactyly (polysyndactyly) (n = 37; prevalence = 0.11); (4) triphalangeal thumb (n = 24; prevalence = 0.07); and (5) thumb duplication plus hallux duplication (n = 4; prevalence = 0.01). Both the thumb and hallux duplication groups showed a significant excess of males, and right-sidedness was also more frequent in both forms though without statistical significance for hallux duplication. Thumb duplication was more often unilateral (94.7% vs. 81.5% for hallux duplication), and its prevalence was higher in Bolivia (3.37/10,000) than in the other 10 Latin-American countries included in this study (1.62/10,000). </p><p>Ullah et al. (2019) reported a consanguineous Pakistani family in which 2 cousins exhibited bilateral preaxial polydactyly of the hands. The authors stated that x-ray showed duplication of the distal phalanx of the thumb (Figure 1 appears to show bifid distal phalanx of the thumb). </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 transmission pattern of PPD1 in the family reported by Ullah et al. (2019) was consistent with autosomal recessive inheritance. </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>Mapping</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>By genotyping highly polymorphic microsatellite markers in a consanguineous Pakistani family in which 2 cousins exhibited bilateral preaxial polydactyly of the hands, Ullah et al. (2019) established linkage to the GLI1 locus on chromosome 12q13.3. </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 a consanguineous Pakistani family in which 2 cousins exhibited bilateral preaxial polydactyly mapping to chromosome 12q13.3, Ullah et al. (2019) identified homozygosity for a missense mutation in the GLI1 gene (L506Q; 165220.0004) that segregated fully with disease in the family and was not found in 70 unrelated Pakistani controls. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between preaxial polydactyly and mutation in the STKLD1 gene, see 618530.0001.</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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<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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Bingle, G. J., Niswander, J. D.
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<strong>Polydactyly in the American Indian.</strong>
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Am. J. Hum. Genet. 27: 91-99, 1975.
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[PubMed: 1155454]
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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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Castilla, E. E., da Graca Dutra, M., Lugarinho da Fonseca, R., Paz, J. E.
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<strong>Hand and foot postaxial polydactyly: two different traits.</strong>
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Am. J. Med. Genet. 73: 48-54, 1997.
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[PubMed: 9375922]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(19971128)73:1<48::aid-ajmg10>3.0.co;2-r]
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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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Digby, K.
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<strong>The Immortality of Reasonable Souls.</strong>
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London: John Williams (pub.) 1645.
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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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Fromont, (NI).
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<strong>Anomalies musculaires multiples de la main, absence du flechisseur propre du ponce; absence des muscles de l'eminence thenar; lombricaux supplementaire.</strong>
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Bull. Soc. Anat. Paris 70: 395-401, 1895.
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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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Graham, J. M., Jr., Brown, F. E., Hall, B. D.
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<strong>Thumb polydactyly as part of the range of genetic expression for thenar hypoplasia. (Abstract)</strong>
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Am. J. Hum. Genet. 37: A132 only, 1985.
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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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Graham, J. M., Jr., Brown, F. E., Hall, B. D.
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<strong>Thumb polydactyly as a part of the range of genetic expression for thenar hypoplasia.</strong>
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Clin. Pediat. 26: 142-148, 1987.
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[PubMed: 3816011]
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[Full Text: https://doi.org/10.1177/000992288702600308]
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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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Graham, J. M., Jr., Hoefnagel, D.
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<strong>Thumb polydactyly as part of the range of genetic expression for preaxial limb deficiency. (Abstract)</strong>
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Clin. Res. 30: 133A only, 1982.
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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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Haller, P.
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<strong>Hereditary abductor--opponens agenesis: report of a family with congenital muscle defects of the thenar eminence.</strong>
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J. Neurol. 214: 235-238, 1977.
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[PubMed: 65459]
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[Full Text: https://doi.org/10.1007/BF00316155]
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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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Handforth, J. R.
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<strong>Polydactylism of hand in southern Chinese.</strong>
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Anat. Rec. 106: 119-125, 1950.
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[PubMed: 15405667]
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[Full Text: https://doi.org/10.1002/ar.1091060202]
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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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Kelly, T. E.
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<strong>Personal Communication.</strong>
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Charlottesville, Va. 1/28/1982.
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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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Orioli, I. M., Castilla, E. E.
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<strong>Thumb/hallux duplication and preaxial polydactyly type I.</strong>
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Am. J. Med. Genet. 82: 219-224, 1999.
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[PubMed: 10215544]
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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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Pott, R.
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<strong>Ein Beitrag zu den symmetrischen Missbildungen der Finger und Zehen.</strong>
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Jahrb. Kinderheilk. 21: 392-407, 1884.
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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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Ray, A. K.
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<strong>A pedigree with bilateral preaxial polydactyly from India.</strong>
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J. Genet. Hum. 35: 267-274, 1987.
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[PubMed: 3655751]
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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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Sinha, S.
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<strong>Polydactylism and tooth color.</strong>
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J. Hered. 9: 96 only, 1918.
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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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Sobbota, A., De Marinis, F.
|
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<strong>On the inheritance and development of preaxial and postaxial types of polydactylism.</strong>
|
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Acta Genet. Med. Gemellol. 6: 85-93, 1957.
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[PubMed: 13394081]
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[Full Text: https://doi.org/10.1017/s1120962300020096]
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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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Ullah, A., Umair, M., Majeed, A. I., Abdullah, Jan, A., Ahmad, W.
|
|
<strong>A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly.</strong>
|
|
Clin. Genet. 95: 540-541, 2019.
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[PubMed: 30620395]
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[Full Text: https://doi.org/10.1111/cge.13495]
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</p>
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</li>
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</ol>
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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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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Victor A. McKusick - updated : 9/24/1999<br>Victor A. McKusick - updated : 2/26/1999
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Victor A. McKusick : 6/2/1986
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