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<!--
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||
UID=867095
|
||
ConceptID=C4021453
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Aplasia of the 2nd finger</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867095</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.">C4021453</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Absent index finger; Absent index finger phalanges; Aplasia of the index finger</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:0009535">HP:0009535</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">Absent 2nd (index) finger. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</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>
|
||
<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 unavailable round" title="Clinical test">C</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 unavailable" title="ClinVar">V</span></span><span class="TLline">Aplasia of the 2nd finger</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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="TLline"><a href="/medgen/1841564" ref="tree=MeSH" title="MedGen record for Finger aplasia">Finger aplasia</a></span><ul><li><span class="matched_ds">Aplasia of the 2nd finger</span></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_120524"><div><strong>Holt-Oram syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120524</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:">C0265264</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. Upper-limb malformations may be unilateral, bilateral/symmetric, or bilateral/asymmetric and can range from triphalangeal or absent thumb(s) to phocomelia. Other upper-limb malformations can include unequal arm length caused by aplasia or hypoplasia of the radius, fusion or anomalous development of the carpal and thenar bones, abnormal forearm pronation and supination, abnormal opposition of the thumb, sloping shoulders, and restriction of shoulder joint movement. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. A congenital heart malformation is present in 75% of individuals with HOS and most commonly involves the septum. Atrial septal defect and ventricular septal defect can vary in number, size, and location. Complex congenital heart malformations can also occur in individuals with HOS. Individuals with HOS with or without a congenital heart malformation are at risk for cardiac conduction disease. While individuals may present at birth with sinus bradycardia and first-degree atrioventricular (AV) block, AV block can progress unpredictably to a higher grade including complete heart block with and without atrial fibrillation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120524">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120524" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Holt-Oram syndrome</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/38720223">2D/4D Finger Length Ratio in the Screening of Developmental Dysplasia of the Hip.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Korucu IH,
|
||
Duman N</span><br />
|
||
<span class="medgenPMjournal">J Coll Physicians Surg Pak</span>
|
||
2024 May;34(5):600-603.
|
||
doi: 10.29271/jcpsp.2024.05.600.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38720223" target="_blank">38720223</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33928854">Classification for Thumb Opposition in Children with Thumb Hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vergara-Amador E,
|
||
Herrera-Rodríguez J,
|
||
López-Rincón L</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Asian Pac Vol</span>
|
||
2021 Jun;26(2):214-217.
|
||
doi: 10.1142/S242483552150020X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33928854" target="_blank">33928854</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30702069">ORAL-FACIAL-DIGITAL SYNDROME TYPE I (CLINICAL CASE).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Horlenko O,
|
||
Lenchenko A,
|
||
Kossey G,
|
||
Tomey A,
|
||
Debretseni O</span><br />
|
||
<span class="medgenPMjournal">Georgian Med News</span>
|
||
2018 Dec;(285):47-51.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30702069" target="_blank">30702069</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28610600">The cumulative number of micro-haemorrhages and micro-thromboses in nailfold videocapillaroscopy is a good indicator of disease activity in systemic sclerosis: a validation study of the NEMO score.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andracco R,
|
||
Irace R,
|
||
Zaccara E,
|
||
Vettori S,
|
||
Maglione W,
|
||
Riccardi A,
|
||
Pignataro F,
|
||
Ferrara R,
|
||
Sambataro D,
|
||
Sambataro G,
|
||
Vitali C,
|
||
Valentini G,
|
||
Del Papa N</span><br />
|
||
<span class="medgenPMjournal">Arthritis Res Ther</span>
|
||
2017 Jun 13;19(1):133.
|
||
doi: 10.1186/s13075-017-1354-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28610600" target="_blank">28610600</a><a href="/pmc/articles/PMC5470283" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23816658">The impact of nail disorders on quality of life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Belyayeva E,
|
||
Gregoriou S,
|
||
Chalikias J,
|
||
Kontochristopoulos G,
|
||
Koumantaki E,
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Makris M,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20of%20the%202nd%20finger%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>
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<span class="bold">PMID: </span><a href="/pubmed/29531226" target="_blank">29531226</a><a href="/pmc/articles/PMC5847536" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27935768">Hypertrophic Osteoarthropathy: Clinical and Imaging Features.</a></div>
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Skalski MR,
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Patel DB,
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<span class="bold">PMID: </span><a href="/pubmed/27935768" target="_blank">27935768</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20of%20the%202nd%20finger%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 (6)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38720223">2D/4D Finger Length Ratio in the Screening of Developmental Dysplasia of the Hip.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Korucu IH,
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Duman N</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/38720223" target="_blank">38720223</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38531611">Validation and incorporation of digital entheses into a preliminary GLobal OMERACT Ultrasound DActylitis Score (GLOUDAS) in psoriatic arthritis.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/38531611" target="_blank">38531611</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33928854">Classification for Thumb Opposition in Children with Thumb Hypoplasia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Vergara-Amador E,
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Herrera-Rodríguez J,
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<span class="bold">PMID: </span><a href="/pubmed/33928854" target="_blank">33928854</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29531226">Gestational cytokine concentrations and neurocognitive development at 7 years.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Ghassabian A,
|
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Albert PS,
|
||
Hornig M,
|
||
Yeung E,
|
||
Cherkerzian S,
|
||
Goldstein RB,
|
||
Buka SL,
|
||
Goldstein JM,
|
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Gilman SE</span><br />
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<span class="medgenPMjournal">Transl Psychiatry</span>
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doi: 10.1038/s41398-018-0112-z.
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<span class="bold">PMID: </span><a href="/pubmed/29531226" target="_blank">29531226</a><a href="/pmc/articles/PMC5847536" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23816658">The impact of nail disorders on quality of life.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Belyayeva E,
|
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Gregoriou S,
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Chalikias J,
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Kontochristopoulos G,
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Koumantaki E,
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Makris M,
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Koti I,
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Katoulis A,
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Katsambas A,
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Rigopoulos D</span><br />
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<span class="medgenPMjournal">Eur J Dermatol</span>
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|
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doi: 10.1684/ejd.2013.2048.
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||
<span class="bold">PMID: </span><a href="/pubmed/23816658" target="_blank">23816658</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20of%20the%202nd%20finger%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 (14)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Aplasia%20of%20the%202nd%20finger" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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|
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