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<!--
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UID=892473
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ConceptID=C4049796
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal cardiovascular system morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892473</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.">C4049796</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Abnormality of cardiovascular system morphology</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:0030680">HP:0030680</a></td></tr>
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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">Any structural anomaly of the heart and blood vessels. [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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<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="TLline">Abnormal cardiovascular system morphology</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/2848" ref="tree=MeSH" title="MedGen record for Disorder of cardiovascular system">Disorder of cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/116727" ref="tree=MeSH" title="MedGen record for Abnormality of the cardiovascular system">Abnormality of the cardiovascular system</a></span><ul><li><span class="matched_ds">Abnormal cardiovascular system morphology</span><ul><li><span class="TLline"><a href="/medgen/6748" ref="tree=MeSH" title="MedGen record for Abnormal heart morphology">Abnormal heart morphology</a></span><ul><li><span class="TLline"><a href="/medgen/422333" ref="tree=MeSH" title="MedGen record for 22q11 Deletion Syndrome">22q11 Deletion Syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/4297" ref="tree=MeSH" title="MedGen record for DiGeorge syndrome">DiGeorge syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/107893" ref="tree=MeSH" title="MedGen record for 3-Methylglutaconic aciduria type 2">3-Methylglutaconic aciduria type 2</a></span></li><li><span class="TLline"><a href="/medgen/870897" ref="tree=MeSH" title="MedGen record for Abnormal anatomic location of the heart">Abnormal anatomic location of the heart</a></span><ul><li><span class="TLline"><a href="/medgen/868864" ref="tree=MeSH" title="MedGen record for Abnormal direction of ventricular apex">Abnormal direction of ventricular apex</a></span></li><li><span class="TLline"><a href="/medgen/4255" ref="tree=MeSH" title="MedGen record for Dextrocardia">Dextrocardia</a></span></li><li><span class="TLline"><a href="/medgen/41703" ref="tree=MeSH" title="MedGen record for Ectopia cordis">Ectopia cordis</a></span></li><li><span class="TLline"><a href="/medgen/488817" ref="tree=MeSH" title="MedGen record for Mesocardia">Mesocardia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1709890" ref="tree=MeSH" title="MedGen record for Abnormal bulbus cordis morphology">Abnormal bulbus cordis morphology</a></span></li><li><span class="TLline"><a href="/medgen/870789" ref="tree=MeSH" title="MedGen record for Abnormal cardiac atrium morphology">Abnormal cardiac atrium morphology</a></span><ul><li><span class="TLline"><a href="/medgen/488866" ref="tree=MeSH" title="MedGen record for Abnormal coronary sinus morphology">Abnormal coronary sinus morphology</a></span></li><li><span class="TLline"><a href="/medgen/1631247" ref="tree=MeSH" title="MedGen record for Abnormal left atrium morphology">Abnormal left atrium morphology</a></span></li><li><span class="TLline"><a href="/medgen/1646893" ref="tree=MeSH" title="MedGen record for Abnormal right atrium morphology">Abnormal right atrium morphology</a></span></li><li><span class="TLline"><a href="/medgen/1621471" ref="tree=MeSH" title="MedGen record for Atrial septal hypertrophy">Atrial septal hypertrophy</a></span></li><li><span class="TLline"><a href="/medgen/488886" ref="tree=MeSH" title="MedGen record for Common atrium">Common atrium</a></span></li><li><span class="TLline"><a href="/medgen/3238" ref="tree=MeSH" title="MedGen record for Triatrial heart">Triatrial heart</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1778223" ref="tree=MeSH" title="MedGen record for Abnormal cardiac magnetic resonance imaging finding">Abnormal cardiac magnetic resonance imaging finding</a></span><ul><li><span class="TLline"><a href="/medgen/1785178" ref="tree=MeSH" title="MedGen record for Elevated myocardial native T1">Elevated myocardial native T1</a></span></li><li><span class="TLline"><a href="/medgen/1788876" ref="tree=MeSH" title="MedGen record for Elevated myocardial native T2">Elevated myocardial native T2</a></span></li><li><span class="TLline"><a href="/medgen/1783233" ref="tree=MeSH" title="MedGen record for Myocardial late gadolinium enhancement">Myocardial late gadolinium enhancement</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1830392" ref="tree=MeSH" title="MedGen record for Abnormal cardiac septum morphology">Abnormal cardiac septum morphology</a></span><ul><li><span class="TLline"><a href="/medgen/488868" ref="tree=MeSH" title="MedGen record for Abnormal atrial septum morphology">Abnormal atrial septum morphology</a></span></li><li><span class="TLline"><a href="/medgen/235591" ref="tree=MeSH" title="MedGen record for Atrioventricular canal defect">Atrioventricular canal defect</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871266" ref="tree=MeSH" title="MedGen record for Abnormal cardiac ventricle morphology">Abnormal cardiac ventricle morphology</a></span><ul><li><span class="TLline"><a href="/medgen/91037" ref="tree=MeSH" title="MedGen record for Abnormal left ventricle morphology">Abnormal left ventricle morphology</a></span></li><li><span class="TLline"><a href="/medgen/91036" ref="tree=MeSH" title="MedGen record for Abnormal right ventricle morphology">Abnormal right ventricle morphology</a></span></li><li><span class="TLline"><a href="/medgen/866908" ref="tree=MeSH" title="MedGen record for Abnormal ventricular septum morphology">Abnormal ventricular septum morphology</a></span></li><li><span class="TLline"><a href="/medgen/903640" ref="tree=MeSH" title="MedGen record for Cardiac diverticulum">Cardiac diverticulum</a></span></li><li><span class="TLline"><a href="/medgen/870552" ref="tree=MeSH" title="MedGen record for Myocardial steatosis">Myocardial steatosis</a></span></li><li><span class="TLline"><a href="/medgen/56289" ref="tree=MeSH" title="MedGen record for Single ventricle">Single ventricle</a></span></li><li><span class="TLline"><a href="/medgen/87400" ref="tree=MeSH" title="MedGen record for Ventricular hypertrophy">Ventricular hypertrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868895" ref="tree=MeSH" title="MedGen record for Abnormal connection of the cardiac segments">Abnormal connection of the cardiac segments</a></span><ul><li><span class="TLline"><a href="/medgen/488858" ref="tree=MeSH" title="MedGen record for Abnormal atrioventricular connection">Abnormal atrioventricular connection</a></span></li><li><span class="TLline"><a href="/medgen/754542" ref="tree=MeSH" title="MedGen record for Abnormal ventriculoarterial connection">Abnormal ventriculoarterial connection</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867299" ref="tree=MeSH" title="MedGen record for Abnormal endocardium morphology">Abnormal endocardium morphology</a></span><ul><li><span class="TLline"><a href="/medgen/4041" ref="tree=MeSH" title="MedGen record for Endocardial fibroelastosis">Endocardial fibroelastosis</a></span></li><li><span class="TLline"><a href="/medgen/107513" ref="tree=MeSH" title="MedGen record for Endomyocardial fibrosis">Endomyocardial fibrosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892837" ref="tree=MeSH" title="MedGen record for Abnormal heart valve morphology">Abnormal heart valve morphology</a></span><ul><li><span class="TLline"><a href="/medgen/488999" ref="tree=MeSH" title="MedGen record for Abnormal aortic valve morphology">Abnormal aortic valve morphology</a></span></li><li><span class="TLline"><a href="/medgen/870547" ref="tree=MeSH" title="MedGen record for Abnormal atrioventricular valve morphology">Abnormal atrioventricular valve morphology</a></span></li><li><span class="TLline"><a href="/medgen/488998" ref="tree=MeSH" title="MedGen record for Abnormal pulmonary valve morphology">Abnormal pulmonary valve morphology</a></span></li><li><span class="TLline"><a href="/medgen/1864342" ref="tree=MeSH" title="MedGen record for Cardiac valve vegetations">Cardiac valve vegetations</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871271" ref="tree=MeSH" title="MedGen record for Abnormal myocardium morphology">Abnormal myocardium morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892696" ref="tree=MeSH" title="MedGen record for Abnormal morphology of myocardial trabeculae">Abnormal morphology of myocardial trabeculae</a></span></li><li><span class="TLline"><a href="/medgen/1617610" ref="tree=MeSH" title="MedGen record for Abnormal ventricular myocardium morphology">Abnormal ventricular myocardium morphology</a></span></li><li><span class="TLline"><a href="/medgen/1841855" ref="tree=MeSH" title="MedGen record for Cardiac polyglucosan accumulation">Cardiac polyglucosan accumulation</a></span></li><li><span class="TLline"><a href="/medgen/209232" ref="tree=MeSH" title="MedGen record for Cardiomyopathy">Cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/1863473" ref="tree=MeSH" title="MedGen record for Elevated myocardial iron load">Elevated myocardial iron load</a></span></li><li><span class="TLline"><a href="/medgen/1614677" ref="tree=MeSH" title="MedGen record for Fatty replacement of ventricular myocardial tissue">Fatty replacement of ventricular myocardial tissue</a></span></li><li><span class="TLline"><a href="/medgen/871154" ref="tree=MeSH" title="MedGen record for Focal necrosis of right ventricular muscle cells">Focal necrosis of right ventricular muscle cells</a></span></li><li><span class="TLline"><a href="/medgen/1841883" ref="tree=MeSH" title="MedGen record for Increased myocardial glycogen content">Increased myocardial glycogen content</a></span></li><li><span class="TLline"><a href="/medgen/1863997" ref="tree=MeSH" title="MedGen record for Increased myocardial pyrophosphate uptake">Increased myocardial pyrophosphate uptake</a></span></li><li><span class="TLline"><a href="/medgen/56239" ref="tree=MeSH" title="MedGen record for Myocardial fibrosis">Myocardial fibrosis</a></span></li><li><span class="TLline"><a href="/medgen/1627222" ref="tree=MeSH" title="MedGen record for Myocardial immune cell infiltration">Myocardial immune cell infiltration</a></span></li><li><span class="TLline"><a href="/medgen/254841" ref="tree=MeSH" title="MedGen record for Myocardial necrosis">Myocardial necrosis</a></span></li><li><span class="TLline"><a href="/medgen/44553" ref="tree=MeSH" title="MedGen record for Myocarditis">Myocarditis</a></span></li><li><span class="TLline"><a href="/medgen/1615672" ref="tree=MeSH" title="MedGen record for Myofiber disarray">Myofiber disarray</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871268" ref="tree=MeSH" title="MedGen record for Abnormal pericardium morphology">Abnormal pericardium morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868851" ref="tree=MeSH" title="MedGen record for Congenital defect of the pericardium">Congenital defect of the pericardium</a></span></li><li><span class="TLline"><a href="/medgen/116108" ref="tree=MeSH" title="MedGen record for Pericardial constriction">Pericardial constriction</a></span></li><li><span class="TLline"><a href="/medgen/10653" ref="tree=MeSH" title="MedGen record for Pericardial effusion">Pericardial effusion</a></span></li><li><span class="TLline"><a href="/medgen/1778734" ref="tree=MeSH" title="MedGen record for Pericardial late gadolinium enhancement">Pericardial late gadolinium enhancement</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868902" ref="tree=MeSH" title="MedGen record for Abnormal spatial orientation of the cardiac segments">Abnormal spatial orientation of the cardiac segments</a></span><ul><li><span class="TLline"><a href="/medgen/488996" ref="tree=MeSH" title="MedGen record for Abnormal atrial arrangement">Abnormal atrial arrangement</a></span></li><li><span class="TLline"><a href="/medgen/868899" ref="tree=MeSH" title="MedGen record for Criss-cross atrioventricular valves">Criss-cross atrioventricular valves</a></span></li><li><span class="TLline"><a href="/medgen/868896" ref="tree=MeSH" title="MedGen record for L-looping of the right ventricle">L-looping of the right ventricle</a></span></li><li><span class="TLline"><a href="/medgen/1642262" ref="tree=MeSH" title="MedGen record for Situs inversus">Situs inversus</a></span></li><li><span class="TLline"><a href="/medgen/7331" ref="tree=MeSH" title="MedGen record for Situs inversus with levocardia">Situs inversus with levocardia</a></span></li><li><span class="TLline"><a href="/medgen/868897" ref="tree=MeSH" title="MedGen record for Superior-inferior ventricles without criss-cross atrioventricular valves">Superior-inferior ventricles without criss-cross atrioventricular valves</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868852" ref="tree=MeSH" title="MedGen record for Aorto-ventricular tunnel">Aorto-ventricular tunnel</a></span><ul><li><span class="TLline"><a href="/medgen/576719" ref="tree=MeSH" title="MedGen record for Aorto-left ventricular tunnel">Aorto-left ventricular tunnel</a></span></li><li><span class="TLline"><a href="/medgen/576720" ref="tree=MeSH" title="MedGen record for Aorto-right ventricular tunnel">Aorto-right ventricular tunnel</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/87618" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular cardiomyopathy">Arrhythmogenic right ventricular cardiomyopathy</a></span><ul><li><span class="TLline"><a href="/medgen/349530" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 1">Arrhythmogenic right ventricular dysplasia 1</a></span></li><li><span class="TLline"><a href="/medgen/318748" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 2">Arrhythmogenic right ventricular dysplasia 2</a></span></li><li><span class="TLline"><a href="/medgen/356108" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 3">Arrhythmogenic right ventricular dysplasia 3</a></span></li><li><span class="TLline"><a href="/medgen/356107" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 4">Arrhythmogenic right ventricular dysplasia 4</a></span></li><li><span class="TLline"><a href="/medgen/346805" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 5">Arrhythmogenic right ventricular dysplasia 5</a></span></li><li><span class="TLline"><a href="/medgen/346892" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 6">Arrhythmogenic right ventricular dysplasia 6</a></span></li><li><span class="TLline"><a href="/medgen/336069" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 8">Arrhythmogenic right ventricular dysplasia 8</a></span></li><li><span class="TLline"><a href="/medgen/373205" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 9">Arrhythmogenic right ventricular dysplasia 9</a></span></li><li><span class="TLline"><a href="/medgen/347543" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 10">Arrhythmogenic right ventricular dysplasia 10</a></span></li><li><span class="TLline"><a href="/medgen/351237" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 11">Arrhythmogenic right ventricular dysplasia 11</a></span></li><li><span class="TLline"><a href="/medgen/409749" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 12">Arrhythmogenic right ventricular dysplasia 12</a></span></li><li><span class="TLline"><a href="/medgen/816468" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 13">Arrhythmogenic right ventricular dysplasia 13</a></span></li><li><span class="TLline"><a href="/medgen/373153" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia, familial, 7">Arrhythmogenic right ventricular dysplasia, familial, 7</a></span></li><li><span class="TLline"><a href="/medgen/901869" ref="tree=MeSH" title="MedGen record for Familial isolated arrhythmogenic right ventricular dysplasia">Familial isolated arrhythmogenic right ventricular dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/321991" ref="tree=MeSH" title="MedGen record for Naxos disease">Naxos disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/39014" ref="tree=MeSH" title="MedGen record for Arteriohepatic dysplasia">Arteriohepatic dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/1826025" ref="tree=MeSH" title="MedGen record for Alagille syndrome due to 20p12 microdeletion">Alagille syndrome due to 20p12 microdeletion</a></span></li><li><span class="TLline"><a href="/medgen/365434" ref="tree=MeSH" title="MedGen record for Alagille syndrome due to a JAG1 point mutation">Alagille syndrome due to a JAG1 point mutation</a></span></li><li><span class="TLline"><a href="/medgen/341844" ref="tree=MeSH" title="MedGen record for Alagille syndrome due to a NOTCH2 point mutation">Alagille syndrome due to a NOTCH2 point mutation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57436" ref="tree=MeSH" title="MedGen record for Bicuspid aortic valve">Bicuspid aortic valve</a></span><ul><li><span class="TLline"><a href="/medgen/1373386" ref="tree=MeSH" title="MedGen record for Purely bicuspid aortic valve">Purely bicuspid aortic valve</a></span></li><li><span class="TLline"><a href="/medgen/1385423" ref="tree=MeSH" title="MedGen record for Single raphe bicuspid aortic valve">Single raphe bicuspid aortic valve</a></span></li><li><span class="TLline"><a href="/medgen/1376892" ref="tree=MeSH" title="MedGen record for Two-raphe bicuspid aortic valve">Two-raphe bicuspid aortic valve</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1863420" ref="tree=MeSH" title="MedGen record for Boot-shaped cardiac silhouette">Boot-shaped cardiac silhouette</a></span></li><li><span class="TLline"><a href="/medgen/1864377" ref="tree=MeSH" title="MedGen record for Cardiac mass">Cardiac mass</a></span></li><li><span class="TLline"><a href="/medgen/5459" ref="tree=MeSH" title="MedGen record for Cardiomegaly">Cardiomegaly</a></span><ul><li><span class="TLline"><a href="/medgen/151958" ref="tree=MeSH" title="MedGen record for Cardiomegaly due to hypertension">Cardiomegaly due to hypertension</a></span></li><li><span class="TLline"><a href="/medgen/57442" ref="tree=MeSH" title="MedGen record for Left ventricular hypertrophy">Left ventricular hypertrophy</a></span></li><li><span class="TLline"><a href="/medgen/2880" ref="tree=MeSH" title="MedGen record for Primary dilated cardiomyopathy">Primary dilated cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/57981" ref="tree=MeSH" title="MedGen record for Right ventricular hypertrophy">Right ventricular hypertrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1617" ref="tree=MeSH" title="MedGen record for Coarctation of aorta">Coarctation of aorta</a></span><ul><li><span class="TLline"><a href="/medgen/758831" ref="tree=MeSH" title="MedGen record for Atypical coarctation of aorta">Atypical coarctation of aorta</a></span></li><li><span class="TLline"><a href="/medgen/443900" ref="tree=MeSH" title="MedGen record for Autosomal dominant coarctation of aorta">Autosomal dominant coarctation of aorta</a></span></li><li><span class="TLline"><a href="/medgen/1385566" ref="tree=MeSH" title="MedGen record for Coarctation in the transverse aortic arch">Coarctation in the transverse aortic arch</a></span></li><li><span class="TLline"><a href="/medgen/870806" ref="tree=MeSH" title="MedGen record for Coarctation of abdominal aorta">Coarctation of abdominal aorta</a></span></li><li><span class="TLline"><a href="/medgen/1378073" ref="tree=MeSH" title="MedGen record for Long segment coarctation of the aorta">Long segment coarctation of the aorta</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868006" ref="tree=MeSH" title="MedGen record for Congenital malformation of the left heart">Congenital malformation of the left heart</a></span><ul><li><span class="TLline"><a href="/medgen/57746" ref="tree=MeSH" title="MedGen record for Hypoplastic left heart syndrome">Hypoplastic left heart syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868809" ref="tree=MeSH" title="MedGen record for Congenital malformation of the right heart">Congenital malformation of the right heart</a></span><ul><li><span class="TLline"><a href="/medgen/41649" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle">Double outlet right ventricle</a></span></li><li><span class="TLline"><a href="/medgen/451017" ref="tree=MeSH" title="MedGen record for Hypoplastic right heart">Hypoplastic right heart</a></span></li><li><span class="TLline"><a href="/medgen/78576" ref="tree=MeSH" title="MedGen record for Uhl anomaly">Uhl anomaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3627" ref="tree=MeSH" title="MedGen record for Coronary Vessel Anomalies">Coronary Vessel Anomalies</a></span><ul><li><span class="TLline"><a href="/medgen/1676988" ref="tree=MeSH" title="MedGen record for Anomalous Left Coronary Artery">Anomalous Left Coronary Artery</a></span></li><li><span class="TLline"><a href="/medgen/760471" ref="tree=MeSH" title="MedGen record for Anomalous origin of left coronary artery from the pulmonary artery">Anomalous origin of left coronary artery from the pulmonary artery</a></span></li><li><span class="TLline"><a href="/medgen/182684" ref="tree=MeSH" title="MedGen record for Myocardial bridging">Myocardial bridging</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8181" ref="tree=MeSH" title="MedGen record for Criss-cross heart">Criss-cross heart</a></span></li><li><span class="TLline"><a href="/medgen/4435" ref="tree=MeSH" title="MedGen record for Ebstein anomaly">Ebstein anomaly</a></span></li><li><span class="TLline"><a href="/medgen/4479" ref="tree=MeSH" title="MedGen record for Eisenmenger syndrome">Eisenmenger syndrome</a></span></li><li><span class="TLline"><a href="/medgen/52848" ref="tree=MeSH" title="MedGen record for Fallot trilogy">Fallot trilogy</a></span></li><li><span class="TLline"><a href="/medgen/6752" ref="tree=MeSH" title="MedGen record for Heart septal defect">Heart septal defect</a></span><ul><li><span class="TLline"><a href="/medgen/895830" ref="tree=MeSH" title="MedGen record for Aorticopulmonary Septal Defect">Aorticopulmonary Septal Defect</a></span></li><li><span class="TLline"><a href="/medgen/365" ref="tree=MeSH" title="MedGen record for Aortopulmonary window">Aortopulmonary window</a></span></li><li><span class="TLline"><a href="/medgen/6753" ref="tree=MeSH" title="MedGen record for Atrial septal defect">Atrial septal defect</a></span></li><li><span class="TLline"><a href="/medgen/501123" ref="tree=MeSH" title="MedGen record for Atrioventricular septal defect">Atrioventricular septal defect</a></span></li><li><span class="TLline"><a href="/medgen/41778" ref="tree=MeSH" title="MedGen record for Endocardial cushion defect">Endocardial cushion defect</a></span></li><li><span class="TLline"><a href="/medgen/42366" ref="tree=MeSH" title="MedGen record for Ventricular septal defect">Ventricular septal defect</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/462875" ref="tree=MeSH" title="MedGen record for Hypoplastic heart">Hypoplastic heart</a></span></li><li><span class="TLline"><a href="/medgen/403467" ref="tree=MeSH" title="MedGen record for Isolated Noncompaction of the Ventricular Myocardium">Isolated Noncompaction of the Ventricular Myocardium</a></span></li><li><span class="TLline"><a href="/medgen/44193" ref="tree=MeSH" title="MedGen record for Long QT syndrome">Long QT syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/327586" ref="tree=MeSH" title="MedGen record for Andersen Tawil syndrome">Andersen Tawil syndrome</a></span></li><li><span class="TLline"><a href="/medgen/685787" ref="tree=MeSH" title="MedGen record for Congenital long QT syndrome">Congenital long QT syndrome</a></span></li><li><span class="TLline"><a href="/medgen/5929" ref="tree=MeSH" title="MedGen record for Jervell and Lange-Nielsen syndrome">Jervell and Lange-Nielsen syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1641146" ref="tree=MeSH" title="MedGen record for Long QT syndrome 1">Long QT syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/462293" ref="tree=MeSH" title="MedGen record for Long QT syndrome 2">Long QT syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/349087" ref="tree=MeSH" title="MedGen record for Long QT syndrome 3">Long QT syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/358092" ref="tree=MeSH" title="MedGen record for Long QT syndrome 5">Long QT syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/864108" ref="tree=MeSH" title="MedGen record for Long QT syndrome 14">Long QT syndrome 14</a></span></li><li><span class="TLline"><a href="/medgen/331395" ref="tree=MeSH" title="MedGen record for Timothy syndrome">Timothy syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/44287" ref="tree=MeSH" title="MedGen record for Marfan syndrome">Marfan syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/443966" ref="tree=MeSH" title="MedGen record for Loeys-Dietz Syndrome Type 2">Loeys-Dietz Syndrome Type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/18073" ref="tree=MeSH" title="MedGen record for Noonan syndrome">Noonan syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1638960" ref="tree=MeSH" title="MedGen record for Noonan syndrome 1">Noonan syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/344290" ref="tree=MeSH" title="MedGen record for Noonan syndrome 2">Noonan syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/349931" ref="tree=MeSH" title="MedGen record for Noonan syndrome 3">Noonan syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/339908" ref="tree=MeSH" title="MedGen record for Noonan syndrome 4">Noonan syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/370589" ref="tree=MeSH" title="MedGen record for Noonan syndrome 5">Noonan syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/413028" ref="tree=MeSH" title="MedGen record for Noonan syndrome 6">Noonan syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/462320" ref="tree=MeSH" title="MedGen record for Noonan syndrome 7">Noonan syndrome 7</a></span></li><li><span class="TLline"><a href="/medgen/815563" ref="tree=MeSH" title="MedGen record for Noonan syndrome 8">Noonan syndrome 8</a></span></li><li><span class="TLline"><a href="/medgen/896352" ref="tree=MeSH" title="MedGen record for Noonan syndrome 9">Noonan syndrome 9</a></span></li><li><span class="TLline"><a href="/medgen/902892" ref="tree=MeSH" title="MedGen record for Noonan syndrome 10">Noonan syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/1681177" ref="tree=MeSH" title="MedGen record for Noonan syndrome 11">Noonan syndrome 11</a></span></li><li><span class="TLline"><a href="/medgen/1684730" ref="tree=MeSH" title="MedGen record for Noonan syndrome 12">Noonan syndrome 12</a></span></li><li><span class="TLline"><a href="/medgen/1761918" ref="tree=MeSH" title="MedGen record for Noonan syndrome 13">Noonan syndrome 13</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/104494" ref="tree=MeSH" title="MedGen record for Noonan syndrome with multiple lentigines">Noonan syndrome with multiple lentigines</a></span><ul><li><span class="TLline"><a href="/medgen/1631694" ref="tree=MeSH" title="MedGen record for LEOPARD syndrome 1">LEOPARD syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/370588" ref="tree=MeSH" title="MedGen record for LEOPARD syndrome 2">LEOPARD syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/462321" ref="tree=MeSH" title="MedGen record for LEOPARD syndrome 3">LEOPARD syndrome 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/4415" ref="tree=MeSH" title="MedGen record for Patent ductus arteriosus">Patent ductus arteriosus</a></span><ul><li><span class="TLline"><a href="/medgen/488905" ref="tree=MeSH" title="MedGen record for Bilateral ductus arteriosus">Bilateral ductus arteriosus</a></span></li><li><span class="TLline"><a href="/medgen/868839" ref="tree=MeSH" title="MedGen record for Patent ductus arteriosus after birth at term">Patent ductus arteriosus after birth at term</a></span></li><li><span class="TLline"><a href="/medgen/868838" ref="tree=MeSH" title="MedGen record for Patent ductus arteriosus after premature birth">Patent ductus arteriosus after premature birth</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/576685" ref="tree=MeSH" title="MedGen record for Quadricuspid aortic valve">Quadricuspid aortic valve</a></span></li><li><span class="TLline"><a href="/medgen/21498" ref="tree=MeSH" title="MedGen record for Tetralogy of Fallot">Tetralogy of Fallot</a></span><ul><li><span class="TLline"><a href="/medgen/768726" ref="tree=MeSH" title="MedGen record for Complete atrioventricular canal-tetralogy of fallot syndrome">Complete atrioventricular canal-tetralogy of fallot syndrome</a></span></li><li><span class="TLline"><a href="/medgen/868826" ref="tree=MeSH" title="MedGen record for Tetralogy of Fallot with absent subarterial conus">Tetralogy of Fallot with absent subarterial conus</a></span></li><li><span class="TLline"><a href="/medgen/868825" ref="tree=MeSH" title="MedGen record for Tetralogy of Fallot with atrioventricular canal defect">Tetralogy of Fallot with atrioventricular canal defect</a></span></li><li><span class="TLline"><a href="/medgen/576595" ref="tree=MeSH" title="MedGen record for Tetralogy of Fallot with pulmonary atresia">Tetralogy of Fallot with pulmonary atresia</a></span></li><li><span class="TLline"><a href="/medgen/488870" ref="tree=MeSH" title="MedGen record for Tetralogy of Fallot with pulmonary stenosis">Tetralogy of Fallot with pulmonary stenosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/21245" ref="tree=MeSH" title="MedGen record for Transposition of the great arteries">Transposition of the great arteries</a></span><ul><li><span class="TLline"><a href="/medgen/462571" ref="tree=MeSH" title="MedGen record for Congenital heart defects, multiple types, 6">Congenital heart defects, multiple types, 6</a></span></li><li><span class="TLline"><a href="/medgen/87489" ref="tree=MeSH" title="MedGen record for Congenitally corrected transposition of the great arteries">Congenitally corrected transposition of the great arteries</a></span></li><li><span class="TLline"><a href="/medgen/699062" ref="tree=MeSH" title="MedGen record for D - transposition of the great vessels">D - transposition of the great vessels</a></span></li><li><span class="TLline"><a href="/medgen/1812310" ref="tree=MeSH" title="MedGen record for Dextro-looped transposition of the great arteries">Dextro-looped transposition of the great arteries</a></span></li><li><span class="TLline"><a href="/medgen/768659" ref="tree=MeSH" title="MedGen record for Dextro-Transposition of the Great Vessels with Intact Ventricular Septum">Dextro-Transposition of the Great Vessels with Intact Ventricular Septum</a></span></li><li><span class="TLline"><a href="/medgen/768660" ref="tree=MeSH" title="MedGen record for Dextro-Transposition of the Great Vessels with Ventricular Septal Defect">Dextro-Transposition of the Great Vessels with Ventricular Septal Defect</a></span></li><li><span class="TLline"><a href="/medgen/758887" ref="tree=MeSH" title="MedGen record for Dextrotransposition of the great arteries">Dextrotransposition of the great arteries</a></span></li><li><span class="TLline"><a href="/medgen/237904" ref="tree=MeSH" title="MedGen record for Heterotaxy, visceral, 2, autosomal">Heterotaxy, visceral, 2, autosomal</a></span></li><li><span class="TLline"><a href="/medgen/476121" ref="tree=MeSH" title="MedGen record for Levo-Transposition of the Great Arteries">Levo-Transposition of the Great Arteries</a></span></li><li><span class="TLline"><a href="/medgen/699035" ref="tree=MeSH" title="MedGen record for Levotransposition of the great arteries">Levotransposition of the great arteries</a></span></li><li><span class="TLline"><a href="/medgen/332422" ref="tree=MeSH" title="MedGen record for Transposition of the great arteries, dextro-looped">Transposition of the great arteries, dextro-looped</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/67034" ref="tree=MeSH" title="MedGen record for Tricuspid atresia">Tricuspid atresia</a></span><ul><li><span class="TLline"><a href="/medgen/576468" ref="tree=MeSH" title="MedGen record for Unguarded tricuspid valve">Unguarded tricuspid valve</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1379406" ref="tree=MeSH" title="MedGen record for Trisomy 13 Syndromes">Trisomy 13 Syndromes</a></span></li><li><span class="TLline"><a href="/medgen/1384417" ref="tree=MeSH" title="MedGen record for Trisomy 18">Trisomy 18</a></span></li><li><span class="TLline"><a href="/medgen/21734" ref="tree=MeSH" title="MedGen record for Turner syndrome">Turner syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/116607" ref="tree=MeSH" title="MedGen record for Monosomy X">Monosomy X</a></span></li><li><span class="TLline"><a href="/medgen/873772" ref="tree=MeSH" title="MedGen record for Mosaic Turner syndrome">Mosaic Turner syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1842425" ref="tree=MeSH" title="MedGen record for Turner syndrome due to structural X chromosome anomalies">Turner syndrome due to structural X chromosome anomalies</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/465273" ref="tree=MeSH" title="MedGen record for Visceral heterotaxy">Visceral heterotaxy</a></span><ul><li><span class="TLline"><a href="/medgen/75620" ref="tree=MeSH" title="MedGen record for Heterotaxy">Heterotaxy</a></span></li><li><span class="TLline"><a href="/medgen/465274" ref="tree=MeSH" title="MedGen record for Right atrial isomerism">Right atrial isomerism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/12162" ref="tree=MeSH" title="MedGen record for Wolff-Parkinson-White pattern">Wolff-Parkinson-White pattern</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/927608" ref="tree=MeSH" title="MedGen record for Abnormal vascular morphology">Abnormal vascular morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1778737" ref="tree=MeSH" title="MedGen record for Abnormal blood vessel morphology">Abnormal blood vessel morphology</a></span><ul><li><span class="TLline"><a href="/medgen/927607" ref="tree=MeSH" title="MedGen record for Abnormal capillary morphology">Abnormal capillary morphology</a></span></li><li><span class="TLline"><a href="/medgen/1375454" ref="tree=MeSH" title="MedGen record for Abnormal morphology of the great vessels">Abnormal morphology of the great vessels</a></span></li><li><span class="TLline"><a href="/medgen/892767" ref="tree=MeSH" title="MedGen record for Abnormal systemic arterial morphology">Abnormal systemic arterial morphology</a></span></li><li><span class="TLline"><a href="/medgen/1622451" ref="tree=MeSH" title="MedGen record for Abnormal vasa vasorum morphology">Abnormal vasa vasorum morphology</a></span></li><li><span class="TLline"><a href="/medgen/66835" ref="tree=MeSH" title="MedGen record for Abnormal venous morphology">Abnormal venous morphology</a></span></li><li><span class="TLline"><a href="/medgen/2042" ref="tree=MeSH" title="MedGen record for Arteriovenous malformation">Arteriovenous malformation</a></span></li><li><span class="TLline"><a href="/medgen/87194" ref="tree=MeSH" title="MedGen record for Perivascular fibrosis">Perivascular fibrosis</a></span></li><li><span class="TLline"><a href="/medgen/90990" ref="tree=MeSH" title="MedGen record for Vascular calcification">Vascular calcification</a></span></li><li><span class="TLline"><a href="/medgen/8076" ref="tree=MeSH" title="MedGen record for Vascular dilatation">Vascular dilatation</a></span></li><li><span class="TLline"><a href="/medgen/388724" ref="tree=MeSH" title="MedGen record for Vascular tortuosity">Vascular tortuosity</a></span></li><li><span class="TLline"><a href="/medgen/12054" ref="tree=MeSH" title="MedGen record for Vasculitis">Vasculitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867613" ref="tree=MeSH" title="MedGen record for Abnormal cerebral vascular morphology">Abnormal cerebral vascular morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867162" ref="tree=MeSH" title="MedGen record for Abnormal cerebral artery morphology">Abnormal cerebral artery morphology</a></span></li><li><span class="TLline"><a href="/medgen/868494" ref="tree=MeSH" title="MedGen record for Abnormal cerebral vein morphology">Abnormal cerebral vein morphology</a></span></li><li><span class="TLline"><a href="/medgen/214590" ref="tree=MeSH" title="MedGen record for Cerebral arteriovenous malformation">Cerebral arteriovenous malformation</a></span></li><li><span class="TLline"><a href="/medgen/418825" ref="tree=MeSH" title="MedGen record for Cerebral cavernous malformation">Cerebral cavernous malformation</a></span></li><li><span class="TLline"><a href="/medgen/68652" ref="tree=MeSH" title="MedGen record for Cerebral vasculitis">Cerebral vasculitis</a></span></li><li><span class="TLline"><a href="/medgen/342926" ref="tree=MeSH" title="MedGen record for Dilation of Virchow-Robin spaces">Dilation of Virchow-Robin spaces</a></span></li><li><span class="TLline"><a href="/medgen/101799" ref="tree=MeSH" title="MedGen record for Intracranial hemorrhage">Intracranial hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/52522" ref="tree=MeSH" title="MedGen record for Stroke disorder">Stroke disorder</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870899" ref="tree=MeSH" title="MedGen record for Abnormal gastrointestinal vascular morphology">Abnormal gastrointestinal vascular morphology</a></span><ul><li><span class="TLline"><a href="/medgen/163130" ref="tree=MeSH" title="MedGen record for Gastrointestinal angiodysplasia">Gastrointestinal angiodysplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892534" ref="tree=MeSH" title="MedGen record for Abnormal head blood vessel morphology">Abnormal head blood vessel morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1815118" ref="tree=MeSH" title="MedGen record for Abnormal inferior alveolar artery morphology">Abnormal inferior alveolar artery morphology</a></span></li><li><span class="TLline"><a href="/medgen/348630" ref="tree=MeSH" title="MedGen record for Abnormal internal carotid artery morphology">Abnormal internal carotid artery morphology</a></span></li><li><span class="TLline"><a href="/medgen/892663" ref="tree=MeSH" title="MedGen record for Abnormal lacrimal artery morphology">Abnormal lacrimal artery morphology</a></span></li><li><span class="TLline"><a href="/medgen/892893" ref="tree=MeSH" title="MedGen record for Abnormal lingual artery morphology">Abnormal lingual artery morphology</a></span></li><li><span class="TLline"><a href="/medgen/867428" ref="tree=MeSH" title="MedGen record for Abnormal retinal artery morphology">Abnormal retinal artery morphology</a></span></li><li><span class="TLline"><a href="/medgen/347261" ref="tree=MeSH" title="MedGen record for Prominent scalp veins">Prominent scalp veins</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892523" ref="tree=MeSH" title="MedGen record for Abnormal infraorbital artery morphology">Abnormal infraorbital artery morphology</a></span></li><li><span class="TLline"><a href="/medgen/348472" ref="tree=MeSH" title="MedGen record for Vascular granular osmiophilic material deposition">Vascular granular osmiophilic material deposition</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868723" ref="tree=MeSH" title="MedGen record for Cardiovascular calcification">Cardiovascular calcification</a></span><ul><li><span class="TLline"><a href="/medgen/383924" ref="tree=MeSH" title="MedGen record for Cardiac valve calcification">Cardiac valve calcification</a></span><ul><li><span class="TLline"><a href="/medgen/140899" ref="tree=MeSH" title="MedGen record for Aortic valve calcification">Aortic valve calcification</a></span></li><li><span class="TLline"><a href="/medgen/870551" ref="tree=MeSH" title="MedGen record for Early progressive calcific cardiac valvular disease">Early progressive calcific cardiac valvular disease</a></span></li><li><span class="TLline"><a href="/medgen/181575" ref="tree=MeSH" title="MedGen record for Mitral valve calcification">Mitral valve calcification</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/202115" ref="tree=MeSH" title="MedGen record for Myocardial calcification">Myocardial calcification</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<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>
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<div class="divPopper rprt" id="rdis_41345"><div><strong>5p partial monosomy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41345</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.">C0010314</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/41345">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_64221"><div><strong>Saethre-Chotzen syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>64221</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.">C0175699</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Classic Saethre-Chotzen syndrome (SCS) is characterized by coronal synostosis (unilateral or bilateral), facial asymmetry (particularly in individuals with unicoronal synostosis), strabismus, ptosis, and characteristic appearance of the ear (small pinna with a prominent superior and/or inferior crus). Syndactyly of digits two and three of the hand is variably present. Cognitive development is usually normal, although those with a large genomic deletion are at an increased risk for intellectual challenges. Less common manifestations of SCS include other skeletal findings (parietal foramina, vertebral segmentation defects, radioulnar synostosis, maxillary hypoplasia, ocular hypertelorism, hallux valgus, duplicated or curved distal hallux), hypertelorism, palatal anomalies, obstructive sleep apnea, increased intracranial pressure, short stature, and congenital heart malformations.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/64221">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_113104"><div><strong>Hypertelorism, microtia, facial clefting syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113104</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.">C0220742</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A very rare syndrome with characteristics of the combination of hypertelorism, cleft lip and palate and microtia. Nine cases have been reported in the literature in seven families. Some patients have associated cardiac or renal congenital malformations. Short stature and intellectual deficiency are common. The reported cases support autosomal recessive inheritance.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/113104">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_78538"><div><strong>Miller Dieker syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78538</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.">C0265219</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">PAFAH1B1-related lissencephaly / subcortical band heterotopia (SBH) comprises a spectrum of severity. Affected newborns typically have mild-to-moderate hypotonia, feeding difficulties, and poor head control. During the first years, neurologic examination typically demonstrates poor visual tracking and response to sounds, axial hypotonia, and mild distal spasticity that can transition over time to more severe spasticity. Seizures occur in more than 90% of individuals with lissencephaly and often include infantile spasms. Seizures are often drug resistant, but even with good seizure control, the best developmental level achieved (excluding the few individuals with partial lissencephaly) is the equivalent of about age three to five months. In individuals with PAFAH1B1-related lissencephaly/SBH, developmental delay ranges from mild to severe. Other findings in PAFAH1B1-related lissencephaly/SBH include feeding issues and aspiration (which may result in need for gastrostomy tube placement), progressive microcephaly, and occasional developmental regression.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/78538">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_120532"><div><strong>Baller-Gerold syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120532</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.">C0265308</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. The coronal suture is most commonly affected; the metopic, lambdoid, and sagittal sutures may also be involved alone or in combination. Upper limb abnormality can include a combination of thumb hypo- or aplasia and radial hypo- or aplasia and may be asymmetric. Malformation or absence of carpal or metacarpal bones has also been described. Skin lesions may appear anytime within the first few years after birth, typically beginning with erythema of the face and extremities and evolving into poikiloderma. Slow growth is apparent in infancy with eventual height and length typically at 4 SD below the mean.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/120532">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_137970"><div><strong>Hamartoma of hypothalamus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137970</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.">C0342418</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Pallister-Hall-like syndrome (PHLS) is a pleiotropic autosomal recessive disorder characterized by phenotypic variability. Patients exhibit postaxial polydactyly as well as hypothalamic hamartoma, cardiac and skeletal anomalies, and craniofacial dysmorphisms. Hirschsprung disease has also been observed (Rubino et al., 2018; Le et al., 2020). Pallister-Hall syndrome (146510) is an autosomal dominant disorder with features overlapping those of PHLS, caused by mutation in the GLI3 gene (165240).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/137970">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_96594"><div><strong>Cutis laxa - Marfanoid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96594</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.">C0432335</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A rare, genetic, developmental defect with connective tissue involvement syndrome characterized by neonatal cutis laxa, marfanoid habitus with arachnodactyly, pulmonary emphysema, cardiac anomalies, and diaphragmatic hernia. Mild contractures of the elbows, hips, and knees, with bilateral hip dislocation may also be associated. There have been no further descriptions in the literature since 1991.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/96594">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_162881"><div><strong>Smith-Magenis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162881</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.">C0795864</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly coarse facial features that progress with age), developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbance, and childhood-onset abdominal obesity. Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. The majority of individuals function in the mild-to-moderate range of intellectual disability. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood. Sensory issues are frequently noted; these may include avoidant behavior, as well as repetitive seeking of textures, sounds, and experiences. Toileting difficulties are common. Significant anxiety is common as are problems with executive functioning, including inattention, distractibility, hyperactivity, and impulsivity. Maladaptive behaviors include frequent outbursts / temper tantrums, attention-seeking behaviors, opposition, aggression, and self-injurious behaviors including self-hitting, self-biting, skin picking, inserting foreign objects into body orifices (polyembolokoilamania), and yanking fingernails and/or toenails (onychotillomania). Among the stereotypic behaviors described, the spasmodic upper-body squeeze or "self-hug" seems to be highly associated with SMS. An underlying developmental asynchrony, specifically emotional maturity delayed beyond intellectual functioning, may also contribute to maladaptive behaviors in people with SMS.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/162881">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_162905"><div><strong>Blepharophimosis - intellectual disability syndrome, Ohdo type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162905</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.">C0796094</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/162905">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_162915"><div><strong>Acrocallosal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162915</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.">C0796147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/162915">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_163225"><div><strong>Toriello-Carey syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163225</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.">C0796184</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Toriello-Carey syndrome is a multiple congenital anomaly disorder with variable systemic manifestations, most commonly including mental retardation, agenesis of the corpus callosum, postnatal growth delay, cardiac defects, usually septal defects, distal limb defects, and urogenital anomalies in affected males. Patients have facial dysmorphic features, micrognathia, including full cheeks, hypertelorism, flattened nasal bridge, anteverted nares, and short neck. Not all features are found in all patients and some patients may have additional features such as anal anomalies or hernias (summary by Toriello et al., 2003). In a review of the Toriello-Carey syndrome, Toriello et al. (2016) stated that while corpus callosum abnormalities and micrognathia with highly arched or cleft palate are seen in most patients, other manifestations are widely variable. They noted that etiologic heterogeneity has been observed in reported patients, with at least 20% of patients having chromosome anomalies, and that no good candidate genes have been identified by exome sequencing. The authors commented that this condition might not be a unitary diagnostic entity. They recommended chromosome microarray for any child suspected of having the condition, followed by standard of care by genetic testing.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/163225">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_184924"><div><strong>McKusick-Kaufman syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>184924</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.">C0948368</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">McKusick-Kaufman syndrome (MKS) is characterized by the combination of postaxial polydactyly (PAP), congenital heart disease (CHD), and hydrometrocolpos (HMC) in females and genital malformations in males (most commonly hypospadias, cryptorchidism, and chordee). HMC in infants usually presents as a large cystic abdominal mass arising out of the pelvis, caused by dilatation of the vagina and uterus as a result of the accumulation of cervical secretions from maternal estrogen stimulation. HMC can be caused by failure of the distal third of the vagina to develop (vaginal agenesis), a transverse vaginal membrane, or an imperforate hymen. PAP is the presence of additional digits on the ulnar side of the hand and the fibular side of the foot. A variety of congenital heart defects have been reported including atrioventricular canal, atrial septal defect, ventricular septal defect, or a complex congenital heart malformation.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/184924">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_289648"><div><strong>Hypogonadotropic hypogonadism 2 with or without anosmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>289648</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.">C1563720</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
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<div class="spaceAbove">Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/289648">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_316937"><div><strong>Axenfeld-Rieger syndrome type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>316937</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.">C1832229</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Axenfeld-Rieger syndrome is a disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, which results in blindness from glaucoma in approximately 50% of affected individuals. Systemic abnormalities, including cardiac and dental anomalies, are associated. For a general phenotypic description and a discussion of genetic heterogeneity and nomenclature of Axenfeld-Rieger syndrome, see RIEG1 (180500).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/316937">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_323016"><div><strong>Fanconi anemia complementation group I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323016</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.">C1836861</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323016">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376400"><div><strong>VACTERL with hydrocephalus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376400</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.">C1848599</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">VACTERL describes a constellation of congenital anomalies, including vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects; see 192350. Cases of familial VACTERL with hydrocephalus (H) have been reported with suggestion of autosomal recessive or X-linked inheritance (see 314390). Other patients thought to have VACTERL-H, including 2 unrelated infants reported by Porteous et al. (1992), had been found to have Fanconi anemia (see 227650). Porteous et al. (1992) suggested that chromosomal breakage studies should be performed in all cases of VACTERL/VACTERL-H to rule out Fanconi anemia. Alter et al. (2007) noted that a VATER phenotype had been reported in Fanconi anemia of complementation groups A (227650), C (227645), D1 (605724), E (600901), F (603467), and G (614082). X-linked VACTERL-H is also associated with mutations in the FANCB gene (300515).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376400">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343515"><div><strong>GOMBO syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343515</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.">C1856274</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343515">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_384007"><div><strong>Lethal faciocardiomelic dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>384007</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.">C1856891</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome. It was described only once, in 1975, in 3 affected males in a sibship of 13, from second-cousin parents. Patients were all of low birth weight, had microretrognathia, microstomia, and microglossia, hypoplasia of the radius and ulna with radial deviation of the hands, simian creases and hypoplasia of fingers I and V, hypoplasia of the fibula and tibia with talipes and wide space between toes I and II, and severe malformation of the left heart which may have been responsible for death of all 3 in the first week or so of life.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/384007">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347174"><div><strong>Beemer-Ertbruggen syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347174</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.">C1859526</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A lethal malformation syndrome reported in 2 brothers of first-cousin parents with characteristics of hydrocephalus, cardiac malformation, dense bones and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347174">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_396196"><div><strong>Klippel-Feil syndrome 1, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396196</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.">C1861689</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The vertebral fusion is present from birth. Three major features result from this vertebral fusion: a short neck, the resulting appearance of a low hairline at the back of the head, and a limited range of motion in the neck. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition.\n\nIn people with Klippel-Feil syndrome, the fused vertebrae can limit the range of movement of the neck and back as well as lead to chronic headaches and muscle pain in the neck and back that range in severity. People with minimal bone involvement often have fewer problems compared to individuals with several vertebrae affected. The shortened neck can cause a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Trauma to the spine, such as a fall or car accident, can aggravate problems in the fused area. Fusion of the vertebrae can lead to nerve damage in the head, neck, or back. Over time, individuals with Klippel-Feil syndrome can develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord. Rarely, spinal nerve abnormalities may cause abnormal sensations or involuntary movements in people with Klippel-Feil syndrome. Affected individuals may develop a painful joint disorder called osteoarthritis around the areas of fused bone or experience painful involuntary tensing of the neck muscles (cervical dystonia). In addition to the fused cervical bones, people with this condition may have abnormalities in other vertebrae. Many people with Klippel-Feil syndrome have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae; fusion of additional vertebrae below the neck may also occur.\n\nPeople with Klippel-Feil syndrome may have a wide variety of other features in addition to their spine abnormalities. Some people with this condition have hearing difficulties, eye abnormalities, an opening in the roof of the mouth (cleft palate), genitourinary problems such as abnormal kidneys or reproductive organs, heart abnormalities, or lung defects that can cause breathing problems. Affected individuals may have other skeletal defects including arms or legs of unequal length (limb length discrepancy), which can result in misalignment of the hips or knees. Additionally, the shoulder blades may be underdeveloped so that they sit abnormally high on the back, a condition called Sprengel deformity. Rarely, structural brain abnormalities or a type of birth defect that occurs during the development of the brain and spinal cord (neural tube defect) can occur in people with Klippel-Feil syndrome.\n\nIn some cases, Klippel-Feil syndrome occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these instances, affected individuals have the signs and symptoms of both Klippel-Feil syndrome and the additional disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/396196">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_354732"><div><strong>Aurocephalosyndactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354732</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.">C1862380</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/354732">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_408255"><div><strong>4p partial monosomy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>408255</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.">C1956097</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/408255">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_436417"><div><strong>Chromosome 22q11.2 microduplication syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436417</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.">C2675369</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">22q11.2 duplication is a condition caused by an extra copy of a small piece of chromosome 22. The duplication occurs near the middle of the chromosome at a location designated q11.2.\n\nThe features of this condition vary widely, even among members of the same family. Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone (hypotonia). Many people with the duplication have no apparent physical or intellectual disabilities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/436417">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_393784"><div><strong>Chromosome 15q13.3 microdeletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393784</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.">C2677613</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with the 15q13.3 recurrent deletion may have a wide range of clinical manifestations. The deletion itself may not lead to a clinically recognizable syndrome and a subset of persons with the recurrent deletion have no obvious clinical findings, implying that penetrance for the deletion is incomplete. A little over half of individuals diagnosed with this recurrent deletion have intellectual disability or developmental delay, mainly in the areas of speech acquisition and cognitive function. In the majority of individuals, cognitive impairment is mild. Other features reported in diagnosed individuals include epilepsy (in ~30%), mild hypotonia, and neuropsychiatric disorders (including autism spectrum disorder, attention-deficit/hyperactivity disorder, mood disorder, schizophrenia, and aggressive or self-injurious behavior). Congenital malformations are uncommon.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393784">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_395634"><div><strong>Chromosome 22q11.2 deletion syndrome, distal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395634</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.">C2678480</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, outside the DiGeorge critical region. The phenotype is characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features present in half of the individuals include microcephaly, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities (low-set ears, tags and pits), hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions including the <i>SMARCB1</i> gene, there is a risk of developing malignant rhabdoid tumours. Most deletions are <i>de novo </i>.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395634">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_442876"><div><strong>CLOVES syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442876</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.">C2752042</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/442876">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419314"><div><strong>Split hand-foot malformation 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419314</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.">C2931019</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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||
<div class="spaceAbove">Split-hand/foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM1 have been found to have mental retardation, ectodermal and craniofacial findings, orofacial clefting (Elliott and Evans, 2006), and neurosensory hearing loss (Tackels-Horne et al., 2001). Genetic Heterogeneity of Split-Hand/Foot Malformation Additional SHFM loci include SHFM2 (313350) on chromosome Xq26; SHFM3 (246560), caused by duplication of chromosome 10q24; SHFM4 (605289), caused by mutation in the TP63 gene (603273) on chromosome 3q28; SHFM5 (606708) on chromosome 2q31; and SHFM6 (225300), caused by mutation in the WNT10B gene (601906) on chromosome 12q13. Also see SHFM1D (220600) for a form of SHFM1 with deafness that may be caused by homozygous mutation in the DLX5 gene (600028). Associations Pending Confirmation For discussion of a possible association between split-hand/foot malformation and variation in the EPS15L1 gene, see 616826.0001.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419314">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419019"><div><strong>VACTERL association, X-linked, with or without hydrocephalus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419019</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.">C2931228</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb; see 192350). Some patients may have hydrocephalus, which is referred to as VACTERL-H (Briard et al., 1984).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419019">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462783"><div><strong>Osteogenesis imperfecta type 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462783</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.">C3151433</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by Lapunzina et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462783">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_477585"><div><strong>Lung agenesis-heart defect-thumb anomalies syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477585</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.">C3275954</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Mardini-Nyhan association comprises uni- or bilateral lung agenesis, complex cardiac defects, particularly total anomalous pulmonary venous return (TAPVR), and thumb abnormalities (summary by Hastings et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/477585">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_482865"><div><strong>Baraitser-winter syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482865</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.">C3281235</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome is a multiple congenital anomaly syndrome characterized by typical craniofacial features and intellectual disability. Many (but not all) affected individuals have pachygyria that is predominantly frontal, wasting of the shoulder girdle muscles, and sensory impairment due to iris or retinal coloboma and/or sensorineural deafness. Intellectual disability, which is common but variable, is related to the severity of the brain malformations. Seizures, congenital heart defects, renal malformations, and gastrointestinal dysfunction are also common.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/482865">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_483333"><div><strong>Fanconi anemia complementation group A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483333</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.">C3469521</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/483333">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_763187"><div><strong>Peroxisome biogenesis disorder 2A (Zellweger)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>763187</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.">C3550273</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see 214100.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/763187">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_766162"><div><strong>Intellectual disability, autosomal dominant 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766162</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.">C3553248</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by Kosho et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766162">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_862975"><div><strong>ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862975</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.">C4014538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">ADNP-related disorder is characterized by hypotonia, severe speech and motor delay, mild-to-severe intellectual disability, and characteristic facial features (prominent forehead, high anterior hairline, wide and depressed nasal bridge, and short nose with full, upturned nasal tip) based on a cohort of 78 individuals. Features of autism spectrum disorder are common (stereotypic behavior, impaired social interaction). Other common findings include additional behavioral problems, sleep disturbance, brain abnormalities, seizures, feeding issues, gastrointestinal problems, visual dysfunction (hypermetropia, strabismus, cortical visual impairment), musculoskeletal anomalies, endocrine issues including short stature and hormonal deficiencies, cardiac and urinary tract anomalies, and hearing loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/862975">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1643555"><div><strong>3p- syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1643555</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.">C4706503</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Characteristic features of the distal 3p- syndrome include low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia. Postaxial polydactyly, renal anomalies, cleft palate, congenital heart defects (especially atrioventricular septal defects), preauricular pits, sacral dimple, and gastrointestinal anomalies are variable features. Although intellectual deficits are almost invariably associated with cytogenetically visible 3p deletions, rare patients with a 3p26-p25 deletion and normal intelligence or only mild abnormalities have been described (summary by Shuib et al., 2009).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1643555">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1726802"><div><strong>Chromosome 17q11.2 deletion syndrome, 1.4Mb</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1726802</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.">C5401456</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Approximately 5 to 20% of all patients with neurofibromatosis type I (162200) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions (Riva et al., 2000; Jenne et al., 2001), which is caused by nonallelic homologous recombination of NF1 repeats A and C (Dorschner et al., 2000). The 'NF1 microdeletion syndrome' is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas (Venturin et al., 2004), and an increased risk for malignant peripheral nerve sheath tumors (De Raedt et al., 2003).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1726802">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1725686"><div><strong>Arthrogryposis multiplex congenita 2, neurogenic type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1725686</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.">C5435650</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal greater than distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of the disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1725686">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1781967"><div><strong>Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1781967</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.">C5543020</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neuronal ceroid lipofuscinosis-15 (CLN15) is characterized by severe global developmental delay apparent in infancy or early childhood. Affected individuals have hypotonia with impaired motor development, respiratory insufficiency, and feeding difficulties requiring intervention. Intellectual and speech development is also delayed, and most have visual defects, including cortical visual blindness, nystagmus, and esotropia. The disorder is progressive, as manifest by developmental regression consistent with neurodegeneration. Although overt seizures are not observed, some patients may have episodic hypertonia or apnea, and EEG may show nonspecific abnormalities. Brain imaging shows unique diffusion restriction signal abnormalities affecting the brainstem, cerebellum, and corticospinal tracts. Early death may occur (summary by Polovitskaya et al., 2020).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1781967">Condition Record</a></div></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1643555" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3p- syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_408255" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">4p partial monosomy syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_41345" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">5p partial monosomy syndrome</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162915" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrocallosal syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862975" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (40)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1725686" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis multiplex congenita 2, neurogenic type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_354732" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aurocephalosyndactyly</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_316937" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Axenfeld-Rieger syndrome type 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Baller-Gerold syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482865" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Baraitser-winter syndrome 2</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347174" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Beemer-Ertbruggen syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162905" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blepharophimosis - intellectual disability syndrome, Ohdo type</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_393784" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 15q13.3 microdeletion syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1726802" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 17q11.2 deletion syndrome, 1.4Mb</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395634" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 22q11.2 deletion syndrome, distal</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436417" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 22q11.2 microduplication syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_442876" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CLOVES syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96594" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutis laxa - Marfanoid syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_483333" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group A</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_323016" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group I</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343515" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">GOMBO syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_137970" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hamartoma of hypothalamus</a></div>
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<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>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_113104" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism, microtia, facial clefting syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_289648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypogonadotropic hypogonadism 2 with or without anosmia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766162" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 15</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_396196" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Klippel-Feil syndrome 1, autosomal dominant</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_384007" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethal faciocardiomelic dysplasia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477585" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lung agenesis-heart defect-thumb anomalies syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_184924" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">McKusick-Kaufman syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78538" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Miller Dieker syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1781967" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462783" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta type 12</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_763187" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 2A (Zellweger)</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_64221" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Saethre-Chotzen syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Smith-Magenis syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419314" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Split hand-foot malformation 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Toriello-Carey syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">VACTERL association, X-linked, with or without hydrocephalus</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376400" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">VACTERL with hydrocephalus</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37014337">Diagnosis and Treatment of Acute Myocarditis: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ammirati E,
|
||
Moslehi JJ</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2023 Apr 4;329(13):1098-1113.
|
||
doi: 10.1001/jama.2023.3371.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37014337" target="_blank">37014337</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31964759">Health Care Supervision for Children With Williams Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morris CA,
|
||
Braddock SR;
|
||
COUNCIL ON GENETICS</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2020 Feb;145(2)
|
||
Epub 2020 Jan 21
|
||
doi: 10.1542/peds.2019-3761.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31964759" target="_blank">31964759</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29730740">Congenital portosystemic shunts: diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Franchi-Abella S,
|
||
Gonzales E,
|
||
Ackermann O,
|
||
Branchereau S,
|
||
Pariente D,
|
||
Guérin F;
|
||
International Registry of Congenital Portosystemic Shunt members</span><br />
|
||
<span class="medgenPMjournal">Abdom Radiol (NY)</span>
|
||
2018 Aug;43(8):2023-2036.
|
||
doi: 10.1007/s00261-018-1619-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29730740" target="_blank">29730740</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20cardiovascular%20system%20morphology)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1367)</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/38618955">Capillary malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hammill AM,
|
||
Boscolo E</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
2024 Apr 15;134(8)
|
||
doi: 10.1172/JCI172842.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38618955" target="_blank">38618955</a><a href="/pmc/articles/PMC11014659" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31676999">Congenital vascular ring.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshimura N,
|
||
Fukahara K,
|
||
Yamashita A,
|
||
Doi T,
|
||
Yamashita S,
|
||
Homma T,
|
||
Yokoyama S,
|
||
Aoki M,
|
||
Higashida A,
|
||
Shimada Y,
|
||
Toritsuka D,
|
||
Nagao K,
|
||
Ikeno Y</span><br />
|
||
<span class="medgenPMjournal">Surg Today</span>
|
||
2020 Oct;50(10):1151-1158.
|
||
Epub 2019 Nov 1
|
||
doi: 10.1007/s00595-019-01907-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31676999" target="_blank">31676999</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29025550">Congenital Abnormalities of the Pericardium.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parmar YJ,
|
||
Shah AB,
|
||
Poon M,
|
||
Kronzon I</span><br />
|
||
<span class="medgenPMjournal">Cardiol Clin</span>
|
||
2017 Nov;35(4):601-614.
|
||
doi: 10.1016/j.ccl.2017.07.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29025550" target="_blank">29025550</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27188965">Patent foramen ovale.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Homma S,
|
||
Messé SR,
|
||
Rundek T,
|
||
Sun YP,
|
||
Franke J,
|
||
Davidson K,
|
||
Sievert H,
|
||
Sacco RL,
|
||
Di Tullio MR</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2016 Jan 21;2:15086.
|
||
doi: 10.1038/nrdp.2015.86.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27188965" target="_blank">27188965</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23561812">Pitfalls in repair of conotruncal anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raisky O,
|
||
Vouhé PR</span><br />
|
||
<span class="medgenPMjournal">Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu</span>
|
||
2013;16(1):7-12.
|
||
doi: 10.1053/j.pcsu.2013.02.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23561812" target="_blank">23561812</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20cardiovascular%20system%20morphology%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 (20882)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27132711">Imaging of congenital anomalies of the coronary arteries.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raimondi F,
|
||
Bonnet D</span><br />
|
||
<span class="medgenPMjournal">Diagn Interv Imaging</span>
|
||
2016 May;97(5):561-9.
|
||
Epub 2016 Apr 26
|
||
doi: 10.1016/j.diii.2016.03.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27132711" target="_blank">27132711</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24983250">What is aortic overriding?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anderson RH,
|
||
Spicer DE,
|
||
Henry GW,
|
||
Rigsby C,
|
||
Hlavacek AM,
|
||
Mohun TJ</span><br />
|
||
<span class="medgenPMjournal">Cardiol Young</span>
|
||
2015 Apr;25(4):612-25.
|
||
Epub 2014 Jul 1
|
||
doi: 10.1017/S1047951114001139.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24983250" target="_blank">24983250</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25241098">Venous malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dasgupta R,
|
||
Patel M</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Surg</span>
|
||
2014 Aug;23(4):198-202.
|
||
Epub 2014 Jul 1
|
||
doi: 10.1053/j.sempedsurg.2014.06.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25241098" target="_blank">25241098</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20888460">Vascular malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang JT,
|
||
Liang MG</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2010 Oct;57(5):1091-110.
|
||
doi: 10.1016/j.pcl.2010.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20888460" target="_blank">20888460</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16869315">Aortic arch anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weinberg PM</span><br />
|
||
<span class="medgenPMjournal">J Cardiovasc Magn Reson</span>
|
||
2006;8(4):633-43.
|
||
doi: 10.1080/10976640600713756.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16869315" target="_blank">16869315</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20cardiovascular%20system%20morphology%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 (28606)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34105926">Venous malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Markovic JN,
|
||
Shortell CK</span><br />
|
||
<span class="medgenPMjournal">J Cardiovasc Surg (Torino)</span>
|
||
2021 Oct;62(5):456-466.
|
||
Epub 2021 Jun 9
|
||
doi: 10.23736/S0021-9509.21.11911-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34105926" target="_blank">34105926</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32113817">Fetal cardiac interventions: Where do we stand?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friedman KG,
|
||
Tworetzky W</span><br />
|
||
<span class="medgenPMjournal">Arch Cardiovasc Dis</span>
|
||
2020 Feb;113(2):121-128.
|
||
Epub 2020 Feb 26
|
||
doi: 10.1016/j.acvd.2019.06.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32113817" target="_blank">32113817</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31384377">Ebstein's Anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holst KA,
|
||
Connolly HM,
|
||
Dearani JA</span><br />
|
||
<span class="medgenPMjournal">Methodist Debakey Cardiovasc J</span>
|
||
2019 Apr-Jun;15(2):138-144.
|
||
doi: 10.14797/mdcj-15-2-138.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31384377" target="_blank">31384377</a><a href="/pmc/articles/PMC6668741" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29784122">Treatment of Venous Malformations: The Data, Where We Are, and How It Is Done.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hage AN,
|
||
Chick JFB,
|
||
Srinivasa RN,
|
||
Bundy JJ,
|
||
Chauhan NR,
|
||
Acord M,
|
||
Gemmete JJ</span><br />
|
||
<span class="medgenPMjournal">Tech Vasc Interv Radiol</span>
|
||
2018 Jun;21(2):45-54.
|
||
Epub 2018 Mar 8
|
||
doi: 10.1053/j.tvir.2018.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29784122" target="_blank">29784122</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23561812">Pitfalls in repair of conotruncal anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raisky O,
|
||
Vouhé PR</span><br />
|
||
<span class="medgenPMjournal">Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu</span>
|
||
2013;16(1):7-12.
|
||
doi: 10.1053/j.pcsu.2013.02.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23561812" target="_blank">23561812</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20cardiovascular%20system%20morphology%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 (8701)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28598033">Decision making in anomalous aortic origin of a coronary artery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mery CM</span><br />
|
||
<span class="medgenPMjournal">Congenit Heart Dis</span>
|
||
2017 Sep;12(5):630-632.
|
||
Epub 2017 Jun 9
|
||
doi: 10.1111/chd.12493.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28598033" target="_blank">28598033</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23561812">Pitfalls in repair of conotruncal anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raisky O,
|
||
Vouhé PR</span><br />
|
||
<span class="medgenPMjournal">Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu</span>
|
||
2013;16(1):7-12.
|
||
doi: 10.1053/j.pcsu.2013.02.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23561812" target="_blank">23561812</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17317485">Vascular malformations: Part I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garzon MC,
|
||
Huang JT,
|
||
Enjolras O,
|
||
Frieden IJ</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2007 Mar;56(3):353-70; quiz 371-4.
|
||
doi: 10.1016/j.jaad.2006.05.069.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17317485" target="_blank">17317485</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2179916">Coarctation as a deformation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenberg HS</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pathol</span>
|
||
1990;10(1-2):103-15.
|
||
doi: 10.3109/15513819009067100.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2179916" target="_blank">2179916</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4592844">Marfan's syndrome: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hirst AE Jr,
|
||
Gore I</span><br />
|
||
<span class="medgenPMjournal">Prog Cardiovasc Dis</span>
|
||
1973 Sep-Oct;16(2):187-98.
|
||
doi: 10.1016/s0033-0620(73)80013-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4592844" target="_blank">4592844</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20cardiovascular%20system%20morphology%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 (14967)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34304896">International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Michelena HI,
|
||
Della Corte A,
|
||
Evangelista A,
|
||
Maleszewski JJ,
|
||
Edwards WD,
|
||
Roman MJ,
|
||
Devereux RB,
|
||
Fernández B,
|
||
Asch FM,
|
||
Barker AJ,
|
||
Sierra-Galan LM,
|
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De Kerchove L,
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Fernandes SM,
|
||
Fedak PWM,
|
||
Girdauskas E,
|
||
Delgado V,
|
||
Abbara S,
|
||
Lansac E,
|
||
Prakash SK,
|
||
Bissell MM,
|
||
Popescu BA,
|
||
Hope MD,
|
||
Sitges M,
|
||
Thourani VH,
|
||
Pibarot P,
|
||
Chandrasekaran K,
|
||
Lancellotti P,
|
||
Borger MA,
|
||
Forrest JK,
|
||
Webb J,
|
||
Milewicz DM,
|
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Makkar R,
|
||
Leon MB,
|
||
Sanders SP,
|
||
Markl M,
|
||
Ferrari VA,
|
||
Roberts WC,
|
||
Song JK,
|
||
Blanke P,
|
||
White CS,
|
||
Siu S,
|
||
Svensson LG,
|
||
Braverman AC,
|
||
Bavaria J,
|
||
Sundt TM,
|
||
El Khoury G,
|
||
De Paulis R,
|
||
Enriquez-Sarano M,
|
||
Bax JJ,
|
||
Otto CM,
|
||
Schäfers HJ</span><br />
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<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
2021 Sep;162(3):e383-e414.
|
||
Epub 2021 Jul 22
|
||
doi: 10.1016/j.jtcvs.2021.06.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34304896" target="_blank">34304896</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30947906">Tricuspid Valve Imaging and Intervention in Pediatric and Adult Patients With Congenital Heart Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qureshi MY,
|
||
Sommer RJ,
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Cabalka AK</span><br />
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<span class="medgenPMjournal">JACC Cardiovasc Imaging</span>
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||
2019 Apr;12(4):637-651.
|
||
doi: 10.1016/j.jcmg.2018.10.036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30947906" target="_blank">30947906</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29409687">Cardiac imaging in Ebstein anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qureshi MY,
|
||
O'Leary PW,
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||
Connolly HM</span><br />
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<span class="medgenPMjournal">Trends Cardiovasc Med</span>
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||
2018 Aug;28(6):403-409.
|
||
Epub 2018 Jan 12
|
||
doi: 10.1016/j.tcm.2018.01.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29409687" target="_blank">29409687</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21944149">Congenital malformations of the mitral valve.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Séguéla PE,
|
||
Houyel L,
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||
Acar P</span><br />
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||
<span class="medgenPMjournal">Arch Cardiovasc Dis</span>
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||
2011 Aug;104(8-9):465-79.
|
||
Epub 2011 Aug 30
|
||
doi: 10.1016/j.acvd.2011.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21944149" target="_blank">21944149</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17670762">Genetic causes of vascular malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brouillard P,
|
||
Vikkula M</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
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||
2007 Oct 15;16 Spec No. 2:R140-9.
|
||
Epub 2007 Jul 31
|
||
doi: 10.1093/hmg/ddm211.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17670762" target="_blank">17670762</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20cardiovascular%20system%20morphology%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 (12713)</a></div></div>
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
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|
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<div class="nl"><a target="_blank" href="/pubmed/37855757">Management of Adults With Anomalous Aortic Origin of the Coronary Arteries: State-of-the-Art Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gaudino M,
|
||
Di Franco A,
|
||
Arbustini E,
|
||
Bacha E,
|
||
Bates ER,
|
||
Cameron DE,
|
||
Cao D,
|
||
David TE,
|
||
De Paulis R,
|
||
El-Hamamsy I,
|
||
Farooqi KM,
|
||
Girardi LN,
|
||
Gräni C,
|
||
Kochav JD,
|
||
Molossi S,
|
||
Puskas JD,
|
||
Rao SV,
|
||
Sandner S,
|
||
Tatoulis J,
|
||
Truong QA,
|
||
Weinsaft JW,
|
||
Zimpfer D,
|
||
Mery CM</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2023 Nov 21;82(21):2034-2053.
|
||
Epub 2023 Oct 16
|
||
doi: 10.1016/j.jacc.2023.08.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37855757" target="_blank">37855757</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36899092">ICA agenesis with transcavernous anastomosis: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chaudhary RK,
|
||
Groskreutz D,
|
||
Gupta E,
|
||
Baghdadi Y,
|
||
Smith S,
|
||
Sapire J</span><br />
|
||
<span class="medgenPMjournal">Surg Radiol Anat</span>
|
||
2023 Jun;45(6):777-786.
|
||
Epub 2023 Mar 11
|
||
doi: 10.1007/s00276-023-03117-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36899092" target="_blank">36899092</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34130801">Medical treatment of uterine arteriovenous malformation: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosen A,
|
||
Chan WV,
|
||
Matelski J,
|
||
Walsh C,
|
||
Murji A</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
2021 Oct;116(4):1107-1116.
|
||
Epub 2021 Jun 12
|
||
doi: 10.1016/j.fertnstert.2021.05.095.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34130801" target="_blank">34130801</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31839094">Double-chambered Right Ventricle in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yuan SM</span><br />
|
||
<span class="medgenPMjournal">J Coll Physicians Surg Pak</span>
|
||
2019 Dec;29(12):1193-1198.
|
||
doi: 10.29271/jcpsp.2019.12.1193.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31839094" target="_blank">31839094</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30391499">Aortic Valve Interventions in Pediatric Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouhout I,
|
||
Ba PS,
|
||
El-Hamamsy I,
|
||
Poirier N</span><br />
|
||
<span class="medgenPMjournal">Semin Thorac Cardiovasc Surg</span>
|
||
2019 Summer;31(2):277-287.
|
||
Epub 2018 Nov 2
|
||
doi: 10.1053/j.semtcvs.2018.10.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30391499" target="_blank">30391499</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20cardiovascular%20system%20morphology%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (264)</a></div></div>
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