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<!--
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||
UID=357440
|
||
ConceptID=C1868170
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hypoplasia of deltoid muscle</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357440</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.">C1868170</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Deltoid muscle hypoplasia</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:0030241">HP:0030241</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">Underdevelopment of the deltoid muscle. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
|
||
|
||
<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="TLline">Hypoplasia of deltoid muscle</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867380" ref="tree=MeSH" title="MedGen record for Abnormality of the musculature">Abnormality of the musculature</a></span><ul><li><span class="TLline"><a href="/medgen/868776" ref="tree=MeSH" title="MedGen record for Abnormal skeletal muscle morphology">Abnormal skeletal muscle morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868171" ref="tree=MeSH" title="MedGen record for Abnormality of muscle size">Abnormality of muscle size</a></span><ul><li><span class="TLline"><a href="/medgen/871285" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia involving the skeletal musculature">Aplasia/Hypoplasia involving the skeletal musculature</a></span><ul><li><span class="TLline"><a href="/medgen/66010" ref="tree=MeSH" title="MedGen record for Hypoplasia of the musculature">Hypoplasia of the musculature</a></span><ul><li><span class="TLline"><a href="/medgen/369389" ref="tree=MeSH" title="MedGen record for Shoulder muscle hypoplasia">Shoulder muscle hypoplasia</a></span><ul><li><span class="matched_ds">Hypoplasia of deltoid muscle</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_10822"><div><strong>Poland anomaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10822</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.">C0032357</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Poland syndrome consists of unilateral absence or hypoplasia of the pectoralis muscle, most frequently involving the sternocostal portion of the pectoralis major muscle, and a variable degree of ipsilateral hand and digit anomalies, including symbrachydactyly. Sometimes called Poland sequence, it was first described by Poland (1841). Poland syndrome is most commonly a sporadic condition (David, 1982; Opitz, 1982), but familial cases have been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10822">Condition Record</a></div></div>
|
||
<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="divPopper rprt" id="rdis_233003"><div><strong>Oculootoradial syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>233003</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.">C1327918</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">IVIC syndrome (IVIC) is an autosomal dominant disorder characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral nonprogressive mixed hearing loss. More variable features include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation, and rectovaginal fistula (summary by Paradisi and Arias, 2007).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/233003">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 class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_233003" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculootoradial syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_10822" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poland anomaly</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/37154182">Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van den Bersselaar LR,
|
||
van Alfen N,
|
||
Kruijt N,
|
||
Kamsteeg EJ,
|
||
Fernandez-Garcia MA,
|
||
Treves S,
|
||
Riazi S,
|
||
Yang CY,
|
||
Malagon I,
|
||
van Eijk LT,
|
||
van Engelen BGM,
|
||
Scheffer GJ,
|
||
Jungbluth H,
|
||
Snoeck MMJ,
|
||
Voermans NC</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2023;10(4):541-554.
|
||
doi: 10.3233/JND-230018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37154182" target="_blank">37154182</a><a href="/pmc/articles/PMC10357171" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34481707">Whole-body muscle MRI characteristics of LAMA2-related congenital muscular dystrophy children: An emerging pattern.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sakr HM,
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<div class="portlet_content ln"><span class="medgenPMauthor">Büyükkuşcu MÖ,
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Kulduk A,
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<div class="nl"><a target="_blank" href="/pubmed/31702870">Usefulness of Electromyography to Predict Future Muscle Weakness in Clinically Unaffected Muscles of Polio Survivors.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sawada K,
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Horii M,
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<div class="nl"><a target="_blank" href="/pubmed/37154182">Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">van den Bersselaar LR,
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van Alfen N,
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Kruijt N,
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Kamsteeg EJ,
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Treves S,
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Riazi S,
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Yang CY,
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Toyama S,
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Saitoh E,
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<div class="nl"><a target="_blank" href="/pubmed/32962584">Effect of surgical approaches on deltoid innervation and clinical outcomes in the treatment of proximal humeral fractures.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Büyükkuşcu MÖ,
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Kulduk A,
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Mısır A,
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<span class="bold">PMID: </span><a href="/pubmed/32962584" target="_blank">32962584</a><a href="/pmc/articles/PMC7607925" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23185328">Effects of acute organophosphorus poisoning on function of peripheral nerves: a cohort study.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23127450">Arthroscopic excision of os acromiale: effects on deltoid function and strength.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Campbell PT,
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Nizlan NM,
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Skirving AP</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/23127450" target="_blank">23127450</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Carpenter MG,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplasia%20of%20deltoid%20muscle%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 (14)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37495981">Increased (18) F-FDG uptake in denervated muscles in a case of Parsonage-Turner syndrome.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31702870">Usefulness of Electromyography to Predict Future Muscle Weakness in Clinically Unaffected Muscles of Polio Survivors.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sawada K,
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Horii M,
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Imoto D,
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Ozaki K,
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Toyama S,
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Saitoh E,
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Mikami Y,
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Kubo T</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/31702870" target="_blank">31702870</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/21809071" target="_blank">21809071</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplasia%20of%20deltoid%20muscle%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 (12)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37154182">Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">van den Bersselaar LR,
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van Alfen N,
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Kruijt N,
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Kamsteeg EJ,
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Treves S,
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Riazi S,
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Yang CY,
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Malagon I,
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van Eijk LT,
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van Engelen BGM,
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Scheffer GJ,
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Jungbluth H,
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Snoeck MMJ,
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Voermans NC</span><br />
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<span class="medgenPMjournal">J Neuromuscul Dis</span>
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doi: 10.3233/JND-230018.
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<span class="bold">PMID: </span><a href="/pubmed/37154182" target="_blank">37154182</a><a href="/pmc/articles/PMC10357171" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32962584">Effect of surgical approaches on deltoid innervation and clinical outcomes in the treatment of proximal humeral fractures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Büyükkuşcu MÖ,
|
||
Kulduk A,
|
||
Mısır A,
|
||
Çetinkaya E,
|
||
Çamurcu İY,
|
||
Gürsu ŞS</span><br />
|
||
<span class="medgenPMjournal">Jt Dis Relat Surg</span>
|
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2020;31(3):515-522.
|
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doi: 10.5606/ehc.2020.74218.
|
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<span class="bold">PMID: </span><a href="/pubmed/32962584" target="_blank">32962584</a><a href="/pmc/articles/PMC7607925" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31702870">Usefulness of Electromyography to Predict Future Muscle Weakness in Clinically Unaffected Muscles of Polio Survivors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sawada K,
|
||
Horii M,
|
||
Imoto D,
|
||
Ozaki K,
|
||
Toyama S,
|
||
Saitoh E,
|
||
Mikami Y,
|
||
Kubo T</span><br />
|
||
<span class="medgenPMjournal">PM R</span>
|
||
2020 Jul;12(7):692-698.
|
||
Epub 2020 Jan 16
|
||
doi: 10.1002/pmrj.12281.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31702870" target="_blank">31702870</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30203787">Repetitive Nerve Stimulation in Amyotrophic Lateral Sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun XS,
|
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Liu WX,
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Chen ZH,
|
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Ling L,
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Yang F,
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Wang HF,
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Cui F,
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Huang XS</span><br />
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<span class="medgenPMjournal">Chin Med J (Engl)</span>
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2018 Sep 20;131(18):2146-2151.
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doi: 10.4103/0366-6999.240798.
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<span class="bold">PMID: </span><a href="/pubmed/30203787" target="_blank">30203787</a><a href="/pmc/articles/PMC6144859" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23127450">Arthroscopic excision of os acromiale: effects on deltoid function and strength.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Campbell PT,
|
||
Nizlan NM,
|
||
Skirving AP</span><br />
|
||
<span class="medgenPMjournal">Orthopedics</span>
|
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2012 Nov;35(11):e1601-5.
|
||
doi: 10.3928/01477447-20121023-16.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23127450" target="_blank">23127450</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplasia%20of%20deltoid%20muscle%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 (30)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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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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|
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