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<meta name="keywords" content="C1868114, congenital abnormality, polydactyly of a triphalangeal thumb, polydactyly of triphalangeal thumb, polydactyly, preaxial 2, polydactyly, preaxial ii, polydactyly, preaxial type 2, polydactyly, preaxial type ii, ppd2, preaxial polydactyly type 2, tpt-ps syndrome, triphalangeal thumb, triphalangeal thumb with polysyndactyly, triphalangeal thumb, type i, triphalangeal thumb-polydactyly syndrome, triphalangeal thumb-polysyndactyly syndrome, zrs, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Preaxial polydactyly II (PPD2) is a limb malformation in which duplication, full or partial, of the first digital ray of hands or feet results in extra digits. Triphalangeal thumb is characterized by the presence of 3 phalanges within the thumb. The extra middle phalanx may be fully formed, trapezoidal, or a small triangular 'delta' phalanx; the thumb may be opposable or nonopposable. Preaxial polydactyly and triphalangeal thumb may cosegregate, or each occur in isolation, within families with mutation in the zone of polarizing activity (ZPA) regulatory sequence (ZRS), a regulatory element for the SHH gene (600725) that is contained within intron 5 of the LMBR1 gene (Heutink et al., 1994; Furniss et al., 2008; VanderMeer et al., 2014)." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Polydactyly of a triphalangeal thumb (Concept Id: C1868114)
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<!--
UID=357423
ConceptID=C1868114
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Polydactyly of a triphalangeal thumb<span class="h1sub">(PPD2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357423</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C1868114</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>POLYDACTYLY OF TRIPHALANGEAL THUMB; Polydactyly, preaxial type II; TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Polydactyly of triphalangeal thumb (715710001)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0443147</a></dd><dt><span class="dotprefix"></span></dt><dd>Intellectual Product</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
Gene(s) directly associated with<br />
this condition or phenotype.</div></td>
<td><a target="_blank" title="ZRS - ID: 105804841 - NCBI Gene" href="/gene/105804841" class="medgenPMinfo">ZRS</a> (7q36.3)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0008270" target="_blank">MONDO:0008270</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/174500" target="_blank">174500</a></td></tr>
<tr><td>Orphanet:</td>
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&amp;Expert=93336">ORPHA93336</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Preaxial polydactyly II (PPD2) is a limb malformation in which duplication, full or partial, of the first digital ray of hands or feet results in extra digits. Triphalangeal thumb is characterized by the presence of 3 phalanges within the thumb. The extra middle phalanx may be fully formed, trapezoidal, or a small triangular 'delta' phalanx; the thumb may be opposable or nonopposable. Preaxial polydactyly and triphalangeal thumb may cosegregate, or each occur in isolation, within families with mutation in the zone of polarizing activity (ZPA) regulatory sequence (ZRS), a regulatory element for the SHH gene (600725) that is contained within intron 5 of the LMBR1 gene (Heutink et al., 1994; Furniss et al., 2008; VanderMeer et al., 2014). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_52619"><div><strong>Syndactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52619</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0039075</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/52619">Feature record</a> | <a href="/medgen?term=%22Syndactyly%22%5BClinical%20Features%5D%20OR%2052619%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_609221"><div><strong>Postaxial hand polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>609221</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0431904</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/609221">Feature record</a> | <a href="/medgen?term=%22Postaxial%20hand%20polydactyly%22%5BClinical%20Features%5D%20OR%20609221%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_237235"><div><strong>Polydactyly of a biphalangeal thumb</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>237235</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1395852</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/237235">Feature record</a> | <a href="/medgen?term=%22Polydactyly%20of%20a%20biphalangeal%20thumb%22%5BClinical%20Features%5D%20OR%20237235%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_395424"><div><strong>Duplication of phalanx of hallux</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395424</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1860164</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Partial or complete duplication of one or more phalanx of big toe.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/395424">Feature record</a> | <a href="/medgen?term=%22Duplication%20of%20phalanx%20of%20hallux%22%5BClinical%20Features%5D%20OR%20395424%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_384489"><div><strong>Postaxial foot polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>384489</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2112129</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/384489">Feature record</a> | <a href="/medgen?term=%22Postaxial%20foot%20polydactyly%22%5BClinical%20Features%5D%20OR%20384489%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_389171"><div><strong>Preaxial foot polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>389171</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2112942</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Duplication of all or part of the first ray.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/389171">Feature record</a> | <a href="/medgen?term=%22Preaxial%20foot%20polydactyly%22%5BClinical%20Features%5D%20OR%20389171%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_892306"><div><strong>Duplication of thumb phalanx</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892306</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4021370</a></dd><dt><span class="dotprefix"></span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/892306">Feature record</a> | <a href="/medgen?term=%22Duplication%20of%20thumb%20phalanx%22%5BClinical%20Features%5D%20OR%20892306%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_867069"><div><strong>Complete duplication of distal phalanx of the thumb</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867069</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4021427</a></dd><dt><span class="dotprefix"></span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/867069">Feature record</a> | <a href="/medgen?term=%22Complete%20duplication%20of%20distal%20phalanx%20of%20the%20thumb%22%5BClinical%20Features%5D%20OR%20867069%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_870668"><div><strong>Opposable triphalangeal thumb</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870668</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4025122</a></dd><dt><span class="dotprefix"></span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A form of triphalangeal thumb that can be placed opposite the fingers of the same hand.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/870668">Feature record</a> | <a href="/medgen?term=%22Opposable%20triphalangeal%20thumb%22%5BClinical%20Features%5D%20OR%20870668%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867069" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Complete duplication of distal phalanx of the thumb</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_395424" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Duplication of phalanx of hallux</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892306" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Duplication of thumb phalanx</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870668" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Opposable triphalangeal thumb</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_237235" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polydactyly of a biphalangeal thumb</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_384489" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Postaxial foot polydactyly</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_609221" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Postaxial hand polydactyly</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_389171" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Preaxial foot polydactyly</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52619" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndactyly</a></span></li></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1868114[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=357423">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=357423" target="_blank" href="/omim/174500">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=357423" ref="ncbi_uid=357423">V</a></span></span><span class="TLline">Polydactyly of a triphalangeal thumb</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842226" ref="tree=MeSH" title="MedGen record for Non-syndromic preaxial polydactyly">Non-syndromic preaxial polydactyly</a></span><ul><li><span class="matched_ds">Polydactyly of a triphalangeal thumb</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&amp;data_id=156&amp;PatId=12271&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Polydactyly of a triphalangeal thumb</span> in Orphanet.</div></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/35570116">Reoperation after primary operation for pre-axial polydactyly of the hand: A 12-year experience at a single institute.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shin YH,
Yoon JO,
Kim SS,
Joo HS,
Al-Dhafer BAA,
Kim JK</span><br />
<span class="medgenPMjournal">J Plast Reconstr Aesthet Surg</span>
2022 Aug;75(8):2658-2663.
Epub 2022 Apr 22
doi: 10.1016/j.bjps.2022.04.015.
<span class="bold">PMID: </span><a href="/pubmed/35570116" target="_blank">35570116</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35230999">Congenital Disorders of the Pediatric Thumb.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen JL,
Ho CA</span><br />
<span class="medgenPMjournal">JBJS Rev</span>
2022 Mar 1;10(3)
doi: 10.2106/JBJS.RVW.21.00147.
<span class="bold">PMID: </span><a href="/pubmed/35230999" target="_blank">35230999</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26840275">Intraobserver and Interobserver Reliability of the Oberg-Manske-Tonkin (OMT) Classification: Establishing a Registry on Congenital Upper Limb Differences.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bae DS,
Canizares MF,
Miller PE,
Roberts S,
Vuillermin C,
Wall LB,
Waters PM,
Goldfarb CA</span><br />
<span class="medgenPMjournal">J Pediatr Orthop</span>
2018 Jan;38(1):69-74.
doi: 10.1097/BPO.0000000000000732.
<span class="bold">PMID: </span><a href="/pubmed/26840275" target="_blank">26840275</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25794887">Outcome of two types of surgical correction of the extra phalanx in triphalangeal thumb: is there a difference?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zuidam JM,
Selles RW,
de Kraker M,
Hovius SE</span><br />
<span class="medgenPMjournal">J Hand Surg Eur Vol</span>
2016 Mar;41(3):253-7.
Epub 2015 Mar 20
doi: 10.1177/1753193415576459.
<span class="bold">PMID: </span><a href="/pubmed/25794887" target="_blank">25794887</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2279502">Townes-Brocks syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">König R,
Schick U,
Fuchs S</span><br />
<span class="medgenPMjournal">Eur J Pediatr</span>
1990 Dec;150(2):100-3.
doi: 10.1007/BF02072048.
<span class="bold">PMID: </span><a href="/pubmed/2279502" target="_blank">2279502</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polydactyly%20of%20a%20triphalangeal%20thumb%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (10)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36281136">Triphalangeal thump, thumb duplication, and syndactyly: The first case report in the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Swed S,
Nashwan AJ,
Saleh HH,
Chawa Y,
Baria A,
Etr A</span><br />
<span class="medgenPMjournal">Medicine (Baltimore)</span>
2022 Oct 21;101(42):e31237.
doi: 10.1097/MD.0000000000031237.
<span class="bold">PMID: </span><a href="/pubmed/36281136" target="_blank">36281136</a><a href="/pmc/articles/PMC9592472" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32662247">Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Xu J,
Wu J,
Teng X,
Cai L,
Yuan H,
Chen X,
Hu M,
Wang X,
Jiang N,
Chen H</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2020 Sep;182(9):2117-2123.
Epub 2020 Jul 14
doi: 10.1002/ajmg.a.61757.
<span class="bold">PMID: </span><a href="/pubmed/32662247" target="_blank">32662247</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24038848">Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two de novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Calcia A,
Gai G,
Di Gregorio E,
Talarico F,
Naretto VG,
Migone N,
Pepe E,
Grosso E,
Brusco A</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2013 Oct;161A(10):2656-62.
Epub 2013 Aug 16
doi: 10.1002/ajmg.a.36146.
<span class="bold">PMID: </span><a href="/pubmed/24038848" target="_blank">24038848</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23793141">Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dai L,
Guo H,
Meng H,
Zhang K,
Hu H,
Yao H,
Bai Y</span><br />
<span class="medgenPMjournal">Eur J Pediatr</span>
2013 Nov;172(11):1467-73.
Epub 2013 Jun 22
doi: 10.1007/s00431-013-2071-y.
<span class="bold">PMID: </span><a href="/pubmed/23793141" target="_blank">23793141</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18343293">A classification system of radial polydactyly: inclusion of triphalangeal thumb and triplication.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zuidam JM,
Selles RW,
Ananta M,
Runia J,
Hovius SE</span><br />
<span class="medgenPMjournal">J Hand Surg Am</span>
2008 Mar;33(3):373-7.
doi: 10.1016/j.jhsa.2007.12.012.
<span class="bold">PMID: </span><a href="/pubmed/18343293" target="_blank">18343293</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polydactyly%20of%20a%20triphalangeal%20thumb%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (13)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/26840275">Intraobserver and Interobserver Reliability of the Oberg-Manske-Tonkin (OMT) Classification: Establishing a Registry on Congenital Upper Limb Differences.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bae DS,
Canizares MF,
Miller PE,
Roberts S,
Vuillermin C,
Wall LB,
Waters PM,
Goldfarb CA</span><br />
<span class="medgenPMjournal">J Pediatr Orthop</span>
2018 Jan;38(1):69-74.
doi: 10.1097/BPO.0000000000000732.
<span class="bold">PMID: </span><a href="/pubmed/26840275" target="_blank">26840275</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28889454">Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baas M,
Potuijt JWP,
Hovius SER,
Hoogeboom AJM,
Galjaard RH,
van Nieuwenhoven CA</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2017 Nov;173(11):2898-2905.
Epub 2017 Sep 10
doi: 10.1002/ajmg.a.38398.
<span class="bold">PMID: </span><a href="/pubmed/28889454" target="_blank">28889454</a><a href="/pmc/articles/PMC5698718" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9032651">Metacarpophalangeal pattern (MCPP) profile analysis in a family with triphalangeal thumb.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zguricas J,
Dijkstra PF,
Gelsema ES,
Snijders PJ,
Wüstefeld HP,
Venema HW,
Hovius SE,
Lindhout D</span><br />
<span class="medgenPMjournal">J Med Genet</span>
1997 Jan;34(1):55-62.
doi: 10.1136/jmg.34.1.55.
<span class="bold">PMID: </span><a href="/pubmed/9032651" target="_blank">9032651</a><a href="/pmc/articles/PMC1050848" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polydactyly%20of%20a%20triphalangeal%20thumb%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/30318985">A multidisciplinary review of triphalangeal thumb.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Potuijt JWP,
Galjaard RH,
van der Spek PJ,
van Nieuwenhoven CA,
Ahituv N,
Oberg KC,
Hovius SER</span><br />
<span class="medgenPMjournal">J Hand Surg Eur Vol</span>
2019 Jan;44(1):59-68.
Epub 2018 Oct 14
doi: 10.1177/1753193418803521.
<span class="bold">PMID: </span><a href="/pubmed/30318985" target="_blank">30318985</a><a href="/pmc/articles/PMC6297887" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27592358">A Novel ZRS Mutation in a Chinese Patient with Preaxial Polydactyly and Triphalangeal Thumb.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wu PF,
Guo S,
Fan XF,
Fan LL,
Jin JY,
Tang JY,
Xiang R</span><br />
<span class="medgenPMjournal">Cytogenet Genome Res</span>
2016;149(3):171-175.
Epub 2016 Sep 3
doi: 10.1159/000448820.
<span class="bold">PMID: </span><a href="/pubmed/27592358" target="_blank">27592358</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22495965">A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Laurell T,
Vandermeer JE,
Wenger AM,
Grigelioniene G,
Nordenskjöld A,
Arner M,
Ekblom AG,
Bejerano G,
Ahituv N,
Nordgren A</span><br />
<span class="medgenPMjournal">Hum Mutat</span>
2012 Jul;33(7):1063-6.
Epub 2012 May 11
doi: 10.1002/humu.22097.
<span class="bold">PMID: </span><a href="/pubmed/22495965" target="_blank">22495965</a><a href="/pmc/articles/PMC3370115" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polydactyly%20of%20a%20triphalangeal%20thumb%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/35570116">Reoperation after primary operation for pre-axial polydactyly of the hand: A 12-year experience at a single institute.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shin YH,
Yoon JO,
Kim SS,
Joo HS,
Al-Dhafer BAA,
Kim JK</span><br />
<span class="medgenPMjournal">J Plast Reconstr Aesthet Surg</span>
2022 Aug;75(8):2658-2663.
Epub 2022 Apr 22
doi: 10.1016/j.bjps.2022.04.015.
<span class="bold">PMID: </span><a href="/pubmed/35570116" target="_blank">35570116</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33423580">Polydactyly of the thumb: a modification of the Wassel-Flatt classification.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kim JK,
Al-Dhafer BAA,
Shin YH,
Joo HS</span><br />
<span class="medgenPMjournal">J Hand Surg Eur Vol</span>
2021 May;46(4):346-351.
Epub 2021 Jan 10
doi: 10.1177/1753193420981541.
<span class="bold">PMID: </span><a href="/pubmed/33423580" target="_blank">33423580</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30318985">A multidisciplinary review of triphalangeal thumb.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Potuijt JWP,
Galjaard RH,
van der Spek PJ,
van Nieuwenhoven CA,
Ahituv N,
Oberg KC,
Hovius SER</span><br />
<span class="medgenPMjournal">J Hand Surg Eur Vol</span>
2019 Jan;44(1):59-68.
Epub 2018 Oct 14
doi: 10.1177/1753193418803521.
<span class="bold">PMID: </span><a href="/pubmed/30318985" target="_blank">30318985</a><a href="/pmc/articles/PMC6297887" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28889454">Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baas M,
Potuijt JWP,
Hovius SER,
Hoogeboom AJM,
Galjaard RH,
van Nieuwenhoven CA</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2017 Nov;173(11):2898-2905.
Epub 2017 Sep 10
doi: 10.1002/ajmg.a.38398.
<span class="bold">PMID: </span><a href="/pubmed/28889454" target="_blank">28889454</a><a href="/pmc/articles/PMC5698718" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8012392">The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Heutink P,
Zguricas J,
van Oosterhout L,
Breedveld GJ,
Testers L,
Sandkuijl LA,
Snijders PJ,
Weissenbach J,
Lindhout D,
Hovius SE</span><br />
<span class="medgenPMjournal">Nat Genet</span>
1994 Mar;6(3):287-92.
doi: 10.1038/ng0394-287.
<span class="bold">PMID: </span><a href="/pubmed/8012392" target="_blank">8012392</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polydactyly%20of%20a%20triphalangeal%20thumb%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (18)</a></div></div>
</div>
</div></div></div></div></div></div></div>
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<div class="supplemental col three_col last">
<h2 class="offscreen_noflow">Supplemental Content</h2>
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<!-- MedGen supplemental column starts here -->
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<div class="portlet mgSection" id="ID_113">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1868114%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (8)</a></li>
<li><a href="/gtr/tests?term=C1868114%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (14)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1868114%5bDISCUI%5d" target="_blank">See all (14)</a></total></li>
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