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<meta name="keywords" content="C3179508, absent or hypoplastic thumbs, absent/hypoplastic thumb, absent/hypoplastic thumbs, absent/small thumb, absent/underdeveloped thumb, aplasia/hypoplasia of the thumb, aplasia/hypoplasia of thumbs, aplastic/hypoplastic thumbs, finding, hypoplastic to aplastic thumbs, hypoplastic/absent thumb, thumb absent or hypoplastic, thumb aplasia/hypoplasia, 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="Hypoplastic/small or absent thumb." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=465975
|
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ConceptID=C3179508
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Aplasia/Hypoplasia of the thumb</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>465975</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) Click for more information."><span class="highlight" style="background-color:">C3179508</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Thumb absent or hypoplastic</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0009601">HP:0009601</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<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">Hypoplastic/small or absent thumb. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</div>
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||
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<div class="portlet mgSection" id="ID_118">
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<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>
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<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></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=C3179508[DISCUI]&test_type=Clinical" ref="ncbi_uid=465975">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=465975" ref="ncbi_uid=465975">V</a></span></span><span class="TLline">Aplasia/Hypoplasia of the thumb</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/536898" ref="tree=MeSH" title="MedGen record for Abnormality of limbs">Abnormality of limbs</a></span><ul><li><span class="TLline"><a href="/medgen/1635318" ref="tree=MeSH" title="MedGen record for Aplasia/hypoplasia of the extremities">Aplasia/hypoplasia of the extremities</a></span><ul><li><span class="TLline"><a href="/medgen/892895" ref="tree=MeSH" title="MedGen record for Aplasia/hypoplasia involving bones of the extremities">Aplasia/hypoplasia involving bones of the extremities</a></span><ul><li><span class="TLline"><a href="/medgen/870586" ref="tree=MeSH" title="MedGen record for Aplasia/hypoplasia involving bones of the upper limbs">Aplasia/hypoplasia involving bones of the upper limbs</a></span><ul><li><span class="TLline"><a href="/medgen/867252" ref="tree=MeSH" title="MedGen record for Aplasia/hypoplasia involving bones of the hand">Aplasia/hypoplasia involving bones of the hand</a></span><ul><li><span class="TLline"><a href="/medgen/870620" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of fingers">Aplasia/Hypoplasia of fingers</a></span><ul><li><span class="matched_ds">Aplasia/Hypoplasia of the thumb</span><ul><li><span class="TLline"><a href="/medgen/480441" ref="tree=MeSH" title="MedGen record for Absent thumb">Absent thumb</a></span></li><li><span class="TLline"><a href="/medgen/98469" ref="tree=MeSH" title="MedGen record for Short thumb">Short thumb</a></span><ul><li><span class="TLline"><a href="/medgen/867053" ref="tree=MeSH" title="MedGen record for Short phalanx of the thumb">Short phalanx of the thumb</a></span><ul><li><span class="TLline"><a href="/medgen/340786" ref="tree=MeSH" title="MedGen record for Short proximal phalanx of thumb">Short proximal phalanx of thumb</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1053959" ref="tree=MeSH" title="MedGen record for Thumb hypoplasia grade 1">Thumb hypoplasia grade 1</a></span></li><li><span class="TLline"><a href="/medgen/1053366" ref="tree=MeSH" title="MedGen record for Thumb hypoplasia grade 2">Thumb hypoplasia grade 2</a></span></li><li><span class="TLline"><a href="/medgen/1053249" ref="tree=MeSH" title="MedGen record for Thumb hypoplasia grade 4">Thumb hypoplasia grade 4</a></span></li><li><span class="TLline"><a href="/medgen/1054370" ref="tree=MeSH" title="MedGen record for Thumb hypoplasia grade 3A">Thumb hypoplasia grade 3A</a></span></li><li><span class="TLline"><a href="/medgen/1053504" ref="tree=MeSH" title="MedGen record for Thumb hypoplasia grade 3B">Thumb hypoplasia grade 3B</a></span></li><li><span class="TLline"><a href="/medgen/870692" ref="tree=MeSH" title="MedGen record for Thumbs hypoplastic with bulbous tips">Thumbs hypoplastic with bulbous tips</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_120519"><div><strong>Nager syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120519</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) Click for more information.">C0265245</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nager syndrome is the prototype for a group of disorders collectively referred to as the acrofacial dysostoses (AFDs), which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of Nager syndrome include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hypoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported. The presence of anterior upper-limb defects and the typical lack of lower-limb involvement distinguishes Nager syndrome from Miller syndrome (263750), another rare AFD; however, distinguishing Nager syndrome from other AFDs, including Miller syndrome, can be challenging (summary by Bernier et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120519">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_107901"><div><strong>Thumb deformity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107901</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) Click for more information.">C0575897</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal structure of the first digit of the hand.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107901">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162906"><div><strong>Juberg-Hayward syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162906</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) Click for more information.">C0796099</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Juberg-Hayward syndrome (JHS) is characterized by cleft lip and palate, rhizomelia of the upper limbs with limited elbow extension due to humeroradial synostosis or dislocation of the radial head, and digital anomalies, including shortened thumbs and index and fifth fingers. Microcephaly has been observed in some patients (Kantaputra et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162906">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_324459"><div><strong>Mesoaxial synostotic syndactyly with phalangeal reduction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324459</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) Click for more information.">C1836206</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) represents a distinctive combination of clinical features that includes mesoaxial osseous synostosis at a metacarpal level, reduction of one or more phalanges, hypoplasia of distal phalanges of preaxial and postaxial digits, clinodactyly of fifth fingers, and preaxial fusion of toes (Malik et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324459">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_401047"><div><strong>Holoprosencephaly-radial heart renal anomalies syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401047</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) Click for more information.">C1866649</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This syndrome has characteristics of holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. It has been described in two families (with at least seven affected persons). Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula. Inheritance is likely to be autosomal dominant with variable expressivity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/401047">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1639061"><div><strong>Fraser syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1639061</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) Click for more information.">C4551480</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser Syndrome Fraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (608945) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3; 617667) is caused by mutation in the GRIP1 gene (604597) on chromosome 12q14. See Bowen syndrome (211200) for a comparable but probably distinct syndrome of multiple congenital malformations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1639061">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1639061" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fraser syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_401047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Holoprosencephaly-radial heart renal anomalies syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162906" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Juberg-Hayward syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324459" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mesoaxial synostotic syndactyly with phalangeal reduction</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120519" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nager syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_107901" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thumb deformity</a></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/37195727">Clinical Presentations and Diagnostic Imaging of VACTERL Association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tonni G,
|
||
Koçak Ç,
|
||
Grisolia G,
|
||
Rizzo G,
|
||
Araujo Júnior E,
|
||
Werner H,
|
||
Ruano R,
|
||
Sepulveda W,
|
||
Bonasoni MP,
|
||
Lituania M;
|
||
“International Perinatology Research Group (IPRG)”</span><br />
|
||
<span class="medgenPMjournal">Fetal Pediatr Pathol</span>
|
||
2023 Aug;42(4):651-674.
|
||
Epub 2023 May 17
|
||
doi: 10.1080/15513815.2023.2206905.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37195727" target="_blank">37195727</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36723395">Prevalence pattern, phenotypic manifestation, and descriptive genetics of congenital limb deficiencies in Pakistan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bibi A,
|
||
Uddin S,
|
||
Naeem M,
|
||
Syed A,
|
||
Ud-Din Qazi W,
|
||
Rathore FA,
|
||
Malik S</span><br />
|
||
<span class="medgenPMjournal">Prosthet Orthot Int</span>
|
||
2023 Oct 1;47(5):479-485.
|
||
Epub 2023 Jan 31
|
||
doi: 10.1097/PXR.0000000000000204.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36723395" target="_blank">36723395</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22064729">Pollicisation of the index finger without interosseous muscle or extensor tendon repositioning in isolated thumb hypoplasia/aplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Qattan MM</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Eur Vol</span>
|
||
2012 Mar;37(3):258-62.
|
||
Epub 2011 Nov 7
|
||
doi: 10.1177/1753193411426808.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22064729" target="_blank">22064729</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20007421">The distribution of the types of thumb polydactyly in a Middle Eastern population: a study of 228 hands.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Qattan MM</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Eur Vol</span>
|
||
2010 Mar;35(3):182-7.
|
||
Epub 2009 Dec 9
|
||
doi: 10.1177/1753193409352417.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20007421" target="_blank">20007421</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%2FHypoplasia%20of%20the%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 (4)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37195727">Clinical Presentations and Diagnostic Imaging of VACTERL Association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tonni G,
|
||
Koçak Ç,
|
||
Grisolia G,
|
||
Rizzo G,
|
||
Araujo Júnior E,
|
||
Werner H,
|
||
Ruano R,
|
||
Sepulveda W,
|
||
Bonasoni MP,
|
||
Lituania M;
|
||
“International Perinatology Research Group (IPRG)”</span><br />
|
||
<span class="medgenPMjournal">Fetal Pediatr Pathol</span>
|
||
2023 Aug;42(4):651-674.
|
||
Epub 2023 May 17
|
||
doi: 10.1080/15513815.2023.2206905.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37195727" target="_blank">37195727</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36723395">Prevalence pattern, phenotypic manifestation, and descriptive genetics of congenital limb deficiencies in Pakistan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bibi A,
|
||
Uddin S,
|
||
Naeem M,
|
||
Syed A,
|
||
Ud-Din Qazi W,
|
||
Rathore FA,
|
||
Malik S</span><br />
|
||
<span class="medgenPMjournal">Prosthet Orthot Int</span>
|
||
2023 Oct 1;47(5):479-485.
|
||
Epub 2023 Jan 31
|
||
doi: 10.1097/PXR.0000000000000204.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36723395" target="_blank">36723395</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26789019">Trisomy 4 mosaicism: Delineation of the phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouman A,
|
||
van der Kevie-Kersemaekers AM,
|
||
Huijsdens-van Amsterdam K,
|
||
Dahhan N,
|
||
Knegt L,
|
||
Vansenne F,
|
||
Cobben JM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 Apr;170A(4):1040-5.
|
||
Epub 2016 Jan 20
|
||
doi: 10.1002/ajmg.a.37522.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26789019" target="_blank">26789019</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25344219">Holt Oram syndrome: a registry-based study in Europe.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barisic I,
|
||
Boban L,
|
||
Greenlees R,
|
||
Garne E,
|
||
Wellesley D,
|
||
Calzolari E,
|
||
Addor MC,
|
||
Arriola L,
|
||
Bergman JE,
|
||
Braz P,
|
||
Budd JL,
|
||
Gatt M,
|
||
Haeusler M,
|
||
Khoshnood B,
|
||
Klungsoyr K,
|
||
McDonnell B,
|
||
Nelen V,
|
||
Pierini A,
|
||
Queisser-Wahrendorf A,
|
||
Rankin J,
|
||
Rissmann A,
|
||
Rounding C,
|
||
Tucker D,
|
||
Verellen-Dumoulin C,
|
||
Dolk H</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2014 Oct 25;9:156.
|
||
doi: 10.1186/s13023-014-0156-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25344219" target="_blank">25344219</a><a href="/pmc/articles/PMC4245183" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24411047">VACTERL association with hydrocephalus in a fetus conceived by in vitro fertilization and embryo transfer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen CP,
|
||
Chang TY,
|
||
Chen YY,
|
||
Chern SR,
|
||
Su JW,
|
||
Wang W</span><br />
|
||
<span class="medgenPMjournal">Taiwan J Obstet Gynecol</span>
|
||
2013 Dec;52(4):575-9.
|
||
doi: 10.1016/j.tjog.2013.10.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24411047" target="_blank">24411047</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%2FHypoplasia%20of%20the%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 (8)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36723395">Prevalence pattern, phenotypic manifestation, and descriptive genetics of congenital limb deficiencies in Pakistan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bibi A,
|
||
Uddin S,
|
||
Naeem M,
|
||
Syed A,
|
||
Ud-Din Qazi W,
|
||
Rathore FA,
|
||
Malik S</span><br />
|
||
<span class="medgenPMjournal">Prosthet Orthot Int</span>
|
||
2023 Oct 1;47(5):479-485.
|
||
Epub 2023 Jan 31
|
||
doi: 10.1097/PXR.0000000000000204.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36723395" target="_blank">36723395</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10842287">Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang J,
|
||
Hu D,
|
||
Xia J,
|
||
Yang Y,
|
||
Ying B,
|
||
Hu J,
|
||
Zhou X</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
2000 Jun 5;92(4):237-40.
|
||
doi: 10.1002/(sici)1096-8628(20000605)92:4<237::aid-ajmg2>3.0.co;2-g.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10842287" target="_blank">10842287</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%2FHypoplasia%20of%20the%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 (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3179508%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C3179508%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (11)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3179508%5bDISCUI%5d" target="_blank">See all (11)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Aplasia/Hypoplasia%20of%20the%20thumb" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Aplasia/Hypoplasia%20of%20the%20thumb" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Aplasia/Hypoplasia%20of%20the%20thumb" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Aplasia/Hypoplasia%20of%20the%20thumb%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=465975" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3179508[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3179508[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=465975" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=465975" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=465975" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
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