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<meta name="keywords" content="C0018798, abnormal heart morphology, abnormality of cardiac morphology, abnormality of the heart, abnormality, heart, abnormally shaped heart, cardiac abnormalities, cardiac abnormality, cardiac anomalies, cardiac anomaly, congenital abnormality, congenital anomaly of heart, congenital cardiac anomalies, congenital cardiac defects, congenital heart defect, congenital heart defects, congenital heart disease, congenital heart diseases, defect, congenital heart, defects, congenital heart, disease, congenital heart, heart abnormalities, heart abnormality, heart defect, heart defect, congenital, heart defects, heart defects, congenital, heart disease, congenital, heart malformation, heart malformations, heart, malformation of, malformation of heart, malformation of hearts, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Any structural anomaly of the heart." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=6748
|
||
ConceptID=C0018798
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal heart morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6748</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0018798</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Abnormality of cardiac morphology; Congenital heart defect; Congenital heart defects</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Congenital anomaly of heart (13213009)</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:0001627">HP:0001627</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/140500" target="_blank">140500</a>; <a href="https://omim.org/entry/234750" target="_blank">234750</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Any structural anomaly of the heart. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
|
||
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<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_57746"><div><strong>Hypoplastic left heart</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57746</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.">C0152101</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nPeople with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nEach of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57746">Feature record</a> | <a href="/medgen?term=%22Hypoplastic%20left%20heart%22%5BClinical%20Features%5D%20OR%2057746%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57746" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplastic left heart</a></span></li></ul></li></ul></div></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="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0018798[DISCUI]&test_type=Clinical" ref="ncbi_uid=6748">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=6748" target="_blank" href="/omim/140500">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=6748" ref="ncbi_uid=6748">V</a></span></span><span class="TLline">Abnormal heart morphology</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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="TLline"><a href="/medgen/892473" ref="tree=MeSH" title="MedGen record for Abnormal cardiovascular system morphology">Abnormal cardiovascular system morphology</a></span><ul><li><span class="matched_ds">Abnormal heart morphology</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><ul><li><span class="TLline"><a href="/medgen/868862" ref="tree=MeSH" title="MedGen record for Midline direction of ventricular apex">Midline direction of ventricular apex</a></span></li><li><span class="TLline"><a href="/medgen/868863" ref="tree=MeSH" title="MedGen record for Rightward direction of ventricular apex">Rightward direction of ventricular apex</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/868876" ref="tree=MeSH" title="MedGen record for Abdominal ectopia cordis">Abdominal ectopia cordis</a></span></li><li><span class="TLline"><a href="/medgen/868875" ref="tree=MeSH" title="MedGen record for Cervical ectopia cordis">Cervical ectopia cordis</a></span></li><li><span class="TLline"><a href="/medgen/868873" ref="tree=MeSH" title="MedGen record for Thoracic ectopia cordis">Thoracic ectopia cordis</a></span></li><li><span class="TLline"><a href="/medgen/868872" ref="tree=MeSH" title="MedGen record for Thoracoabdominal ectopia cordis">Thoracoabdominal ectopia cordis</a></span></li><li><span class="TLline"><a href="/medgen/868874" ref="tree=MeSH" title="MedGen record for Thoracocervical ectopia cordis">Thoracocervical ectopia cordis</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/539548" ref="tree=MeSH" title="MedGen record for Absent coronary sinus">Absent coronary sinus</a></span></li><li><span class="TLline"><a href="/medgen/488986" ref="tree=MeSH" title="MedGen record for Coronary sinus atrial septal defect">Coronary sinus atrial septal defect</a></span></li><li><span class="TLline"><a href="/medgen/488997" ref="tree=MeSH" title="MedGen record for Coronary sinus diverticulum">Coronary sinus diverticulum</a></span></li><li><span class="TLline"><a href="/medgen/1613847" ref="tree=MeSH" title="MedGen record for Coronary sinus enlargement">Coronary sinus enlargement</a></span></li><li><span class="TLline"><a href="/medgen/1638932" ref="tree=MeSH" title="MedGen record for Unroofed coronary sinus">Unroofed coronary sinus</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/370300" ref="tree=MeSH" title="MedGen record for Hypoplastic left atrium">Hypoplastic left atrium</a></span></li><li><span class="TLline"><a href="/medgen/536845" ref="tree=MeSH" title="MedGen record for Left atrial enlargement">Left atrial enlargement</a></span></li><li><span class="TLline"><a href="/medgen/1854182" ref="tree=MeSH" title="MedGen record for Left atrial fibrosis">Left atrial fibrosis</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/1624318" ref="tree=MeSH" title="MedGen record for Hypoplastic right atrium">Hypoplastic right atrium</a></span></li><li><span class="TLline"><a href="/medgen/677114" ref="tree=MeSH" title="MedGen record for Right atrial enlargement">Right atrial enlargement</a></span></li><li><span class="TLline"><a href="/medgen/677115" ref="tree=MeSH" title="MedGen record for Right atrial thrombus">Right atrial thrombus</a></span></li></ul></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 Cor triatriatum">Cor triatriatum</a></span><ul><li><span class="TLline"><a href="/medgen/488867" ref="tree=MeSH" title="MedGen record for Cor triatriatum dexter">Cor triatriatum dexter</a></span></li><li><span class="TLline"><a href="/medgen/576445" ref="tree=MeSH" title="MedGen record for Cor triatriatum sinister">Cor triatriatum sinister</a></span></li></ul></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><ul><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/1384602" ref="tree=MeSH" title="MedGen record for Atrial septal dilatation">Atrial septal dilatation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/235591" ref="tree=MeSH" title="MedGen record for Atrioventricular canal defect">Atrioventricular canal defect</a></span><ul><li><span class="TLline"><a href="/medgen/65132" ref="tree=MeSH" title="MedGen record for Complete atrioventricular canal">Complete atrioventricular canal</a></span></li><li><span class="TLline"><a href="/medgen/868880" ref="tree=MeSH" title="MedGen record for Intermediate atrioventricular canal defect">Intermediate atrioventricular canal defect</a></span></li><li><span class="TLline"><a href="/medgen/868879" ref="tree=MeSH" title="MedGen record for Partial atrioventricular canal">Partial atrioventricular canal</a></span></li><li><span class="TLline"><a href="/medgen/83374" ref="tree=MeSH" title="MedGen record for Primum atrial septal defect">Primum atrial septal defect</a></span></li><li><span class="TLline"><a href="/medgen/868878" ref="tree=MeSH" title="MedGen record for Transitional atrioventricular canal defect">Transitional atrioventricular canal defect</a></span></li><li><span class="TLline"><a href="/medgen/482570" ref="tree=MeSH" title="MedGen record for Unbalanced atrioventricular canal defect">Unbalanced atrioventricular canal defect</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/488871" ref="tree=MeSH" title="MedGen record for Abnormal left ventricular outflow tract morphology">Abnormal left ventricular outflow tract morphology</a></span></li><li><span class="TLline"><a href="/medgen/1376889" ref="tree=MeSH" title="MedGen record for Abnormal papillary muscle morphology">Abnormal papillary muscle morphology</a></span></li><li><span class="TLline"><a href="/medgen/120558" ref="tree=MeSH" title="MedGen record for Double outlet left ventricle">Double outlet left ventricle</a></span></li><li><span class="TLline"><a href="/medgen/636016" ref="tree=MeSH" title="MedGen record for Left ventricular aneurysm">Left ventricular aneurysm</a></span></li><li><span class="TLline"><a href="/medgen/576618" ref="tree=MeSH" title="MedGen record for Left ventricular dilatation">Left ventricular dilatation</a></span></li><li><span class="TLline"><a href="/medgen/1053263" ref="tree=MeSH" title="MedGen record for Left ventricular rupture">Left ventricular rupture</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/902167" ref="tree=MeSH" title="MedGen record for Anomalous muscle bundle of the right ventricle">Anomalous muscle bundle of the right ventricle</a></span></li><li><span class="TLline"><a href="/medgen/18765" ref="tree=MeSH" title="MedGen record for Cor pulmonale">Cor pulmonale</a></span></li><li><span class="TLline"><a href="/medgen/369873" ref="tree=MeSH" title="MedGen record for Fibrofatty replacement of right ventricular myocardium">Fibrofatty replacement of right ventricular myocardium</a></span></li><li><span class="TLline"><a href="/medgen/903846" ref="tree=MeSH" title="MedGen record for Hypoplasia of right ventricle">Hypoplasia of right ventricle</a></span></li><li><span class="TLline"><a href="/medgen/745551" ref="tree=MeSH" title="MedGen record for Right ventricular aneurysm">Right ventricular aneurysm</a></span></li><li><span class="TLline"><a href="/medgen/384481" ref="tree=MeSH" title="MedGen record for Right ventricular cardiomyopathy">Right ventricular cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/138012" ref="tree=MeSH" title="MedGen record for Right ventricular dilatation">Right ventricular dilatation</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/576652" ref="tree=MeSH" title="MedGen record for Ventricular septal aneurysm">Ventricular septal aneurysm</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><li><span class="TLline"><a href="/medgen/138013" ref="tree=MeSH" title="MedGen record for Ventricular septal hypertrophy">Ventricular septal hypertrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/903640" ref="tree=MeSH" title="MedGen record for Cardiac diverticulum">Cardiac diverticulum</a></span><ul><li><span class="TLline"><a href="/medgen/866617" ref="tree=MeSH" title="MedGen record for Fibrous cardiac diverticulum">Fibrous cardiac diverticulum</a></span></li><li><span class="TLline"><a href="/medgen/867632" ref="tree=MeSH" title="MedGen record for Muscular cardiac diverticulum">Muscular cardiac diverticulum</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/868823" ref="tree=MeSH" title="MedGen record for Single ventricle of indeterminate morphology">Single ventricle of indeterminate morphology</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/87400" ref="tree=MeSH" title="MedGen record for Ventricular hypertrophy">Ventricular hypertrophy</a></span><ul><li><span class="TLline"><a href="/medgen/807328" ref="tree=MeSH" title="MedGen record for Biventricular hypertrophy">Biventricular hypertrophy</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/57981" ref="tree=MeSH" title="MedGen record for Right ventricular hypertrophy">Right ventricular hypertrophy</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/488864" ref="tree=MeSH" title="MedGen record for Absent left sided atrioventricular connection">Absent left sided atrioventricular connection</a></span></li><li><span class="TLline"><a href="/medgen/488863" ref="tree=MeSH" title="MedGen record for Absent right sided atrioventricular connection">Absent right sided atrioventricular connection</a></span></li><li><span class="TLline"><a href="/medgen/488860" ref="tree=MeSH" title="MedGen record for Ambiguous atrioventricular connection">Ambiguous atrioventricular connection</a></span></li><li><span class="TLline"><a href="/medgen/488859" ref="tree=MeSH" title="MedGen record for Discordant atrioventricular connection">Discordant atrioventricular connection</a></span></li><li><span class="TLline"><a href="/medgen/868891" ref="tree=MeSH" title="MedGen record for Double inlet atrioventricular connection">Double inlet atrioventricular connection</a></span></li><li><span class="TLline"><a href="/medgen/91035" ref="tree=MeSH" title="MedGen record for Mitral atresia disorder">Mitral atresia disorder</a></span></li><li><span class="TLline"><a href="/medgen/868887" ref="tree=MeSH" title="MedGen record for Overriding atrioventricular valve">Overriding atrioventricular valve</a></span></li><li><span class="TLline"><a href="/medgen/868886" ref="tree=MeSH" title="MedGen record for Straddling atrioventricular valve">Straddling atrioventricular valve</a></span></li></ul></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><ul><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></ul></li><li><span class="TLline"><a href="/medgen/107513" ref="tree=MeSH" title="MedGen record for Endocardial fibrosis">Endocardial 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><ul><li><span class="TLline"><a href="/medgen/1623463" ref="tree=MeSH" title="MedGen record for Abnormal aortic valve cusp morphology">Abnormal aortic valve cusp morphology</a></span></li><li><span class="TLline"><a href="/medgen/451016" ref="tree=MeSH" title="MedGen record for Aortic valve atresia">Aortic valve atresia</a></span></li><li><span class="TLline"><a href="/medgen/1619" ref="tree=MeSH" title="MedGen record for Aortic valve prolapse">Aortic valve prolapse</a></span></li><li><span class="TLline"><a href="/medgen/355656" ref="tree=MeSH" title="MedGen record for Dysplastic aortic valve">Dysplastic aortic valve</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/871272" ref="tree=MeSH" title="MedGen record for Abnormal mitral valve morphology">Abnormal mitral valve morphology</a></span></li><li><span class="TLline"><a href="/medgen/871267" ref="tree=MeSH" title="MedGen record for Abnormal tricuspid valve morphology">Abnormal tricuspid valve morphology</a></span></li><li><span class="TLline"><a href="/medgen/868882" ref="tree=MeSH" title="MedGen record for Imperforate atrioventricular valve">Imperforate atrioventricular valve</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/1623853" ref="tree=MeSH" title="MedGen record for Abnormal pulmonary valve cusp morphology">Abnormal pulmonary valve cusp morphology</a></span></li><li><span class="TLline"><a href="/medgen/78575" ref="tree=MeSH" title="MedGen record for Absence of the pulmonary valve">Absence of the pulmonary valve</a></span></li><li><span class="TLline"><a href="/medgen/576665" ref="tree=MeSH" title="MedGen record for Dysplastic pulmonary valve">Dysplastic pulmonary valve</a></span></li><li><span class="TLline"><a href="/medgen/116684" ref="tree=MeSH" title="MedGen record for Pulmonary valve atresia">Pulmonary valve atresia</a></span></li><li><span class="TLline"><a href="/medgen/348039" ref="tree=MeSH" title="MedGen record for Pulmonary valve defects">Pulmonary valve defects</a></span></li><li><span class="TLline"><a href="/medgen/870554" ref="tree=MeSH" title="MedGen record for Pulmonic valve myxoma">Pulmonic valve myxoma</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/1617226" ref="tree=MeSH" title="MedGen record for Abnormal morphology of left ventricular trabeculae">Abnormal morphology of left ventricular trabeculae</a></span></li><li><span class="TLline"><a href="/medgen/1615024" ref="tree=MeSH" title="MedGen record for Abnormal morphology of right ventricular trabeculae">Abnormal morphology of right ventricular trabeculae</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/2879" ref="tree=MeSH" title="MedGen record for Alcoholic cardiomyopathy">Alcoholic cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/1791459" ref="tree=MeSH" title="MedGen record for Arrhythmia-Induced Cardiomyopathy">Arrhythmia-Induced Cardiomyopathy</a></span></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></li><li><span class="TLline"><a href="/medgen/867504" ref="tree=MeSH" title="MedGen record for Atrial cardiomyopathy">Atrial cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/868" ref="tree=MeSH" title="MedGen record for Chagas cardiomyopathy">Chagas cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/209235" ref="tree=MeSH" title="MedGen record for Danon disease">Danon disease</a></span></li><li><span class="TLline"><a href="/medgen/208887" ref="tree=MeSH" title="MedGen record for Diabetic cardiomyopathy">Diabetic cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/310844" ref="tree=MeSH" title="MedGen record for Histiocytoid cardiomyopathy">Histiocytoid cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/2881" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy">Hypertrophic cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/18634" ref="tree=MeSH" title="MedGen record for Idiopathic cardiomyopathy">Idiopathic cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/82685" ref="tree=MeSH" title="MedGen record for Idiopathic giant cell myocarditis">Idiopathic giant cell myocarditis</a></span></li><li><span class="TLline"><a href="/medgen/9618" ref="tree=MeSH" title="MedGen record for Kearns-Sayre syndrome">Kearns-Sayre syndrome</a></span></li><li><span class="TLline"><a href="/medgen/44552" ref="tree=MeSH" title="MedGen record for Myocardial Reperfusion Injury">Myocardial Reperfusion Injury</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/326592" ref="tree=MeSH" title="MedGen record for Noncompaction cardiomyopathy">Noncompaction cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/163756" ref="tree=MeSH" title="MedGen record for Peripartum cardiomyopathy">Peripartum cardiomyopathy</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/183649" ref="tree=MeSH" title="MedGen record for Primary familial hypertrophic cardiomyopathy">Primary familial hypertrophic cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/40111" ref="tree=MeSH" title="MedGen record for Restrictive cardiomyopathy">Restrictive cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/424705" ref="tree=MeSH" title="MedGen record for Sarcoglycanopathy">Sarcoglycanopathy</a></span></li><li><span class="TLline"><a href="/medgen/366029" ref="tree=MeSH" title="MedGen record for Takotsubo cardiomyopathy">Takotsubo cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/1709363" ref="tree=MeSH" title="MedGen record for Transthyretin Amyloid Cardiomyopathy">Transthyretin Amyloid Cardiomyopathy</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/1620902" ref="tree=MeSH" title="MedGen record for Interstitial cardiac fibrosis">Interstitial cardiac fibrosis</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/1626088" ref="tree=MeSH" title="MedGen record for Myocardial eosinophilic infiltration">Myocardial eosinophilic infiltration</a></span></li><li><span class="TLline"><a href="/medgen/1614935" ref="tree=MeSH" title="MedGen record for Myocardial granulomatous infiltrates">Myocardial granulomatous infiltrates</a></span></li><li><span class="TLline"><a href="/medgen/1625841" ref="tree=MeSH" title="MedGen record for Myocardial lymphocytic infiltration">Myocardial lymphocytic infiltration</a></span></li><li><span class="TLline"><a href="/medgen/1617282" ref="tree=MeSH" title="MedGen record for Myocardial multinucleated giant cells">Myocardial multinucleated giant cells</a></span></li><li><span class="TLline"><a href="/medgen/1621728" ref="tree=MeSH" title="MedGen record for Perivascular myocardial immune cell infiltration">Perivascular myocardial immune cell infiltration</a></span></li></ul></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/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><ul><li><span class="TLline"><a href="/medgen/868849" ref="tree=MeSH" title="MedGen record for Complete diaphragmatic absence of pericardium">Complete diaphragmatic absence of pericardium</a></span></li><li><span class="TLline"><a href="/medgen/868846" ref="tree=MeSH" title="MedGen record for Complete left sided absence of pericardium">Complete left sided absence of pericardium</a></span></li><li><span class="TLline"><a href="/medgen/868848" ref="tree=MeSH" title="MedGen record for Complete right sided absence of pericardium">Complete right sided absence of pericardium</a></span></li><li><span class="TLline"><a href="/medgen/868844" ref="tree=MeSH" title="MedGen record for Partial diaphragmatic absence of pericardium">Partial diaphragmatic absence of pericardium</a></span></li><li><span class="TLline"><a href="/medgen/868845" ref="tree=MeSH" title="MedGen record for Partial left sided absence of pericardium">Partial left sided absence of pericardium</a></span></li><li><span class="TLline"><a href="/medgen/868847" ref="tree=MeSH" title="MedGen record for Partial right sided absence of pericardium">Partial right sided absence of pericardium</a></span></li><li><span class="TLline"><a href="/medgen/576786" ref="tree=MeSH" title="MedGen record for Total absence of the pericardium">Total absence of the pericardium</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/69184" ref="tree=MeSH" title="MedGen record for Chylopericardium">Chylopericardium</a></span></li><li><span class="TLline"><a href="/medgen/6795" ref="tree=MeSH" title="MedGen record for Hemopericardium">Hemopericardium</a></span></li><li><span class="TLline"><a href="/medgen/65081" ref="tree=MeSH" title="MedGen record for Pericardial effusion co-occurrent and due to malignant neoplasm of pericardium">Pericardial effusion co-occurrent and due to malignant neoplasm of pericardium</a></span></li><li><span class="TLline"><a href="/medgen/868755" ref="tree=MeSH" title="MedGen record for Serous pericardial effusion">Serous pericardial effusion</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/756837" ref="tree=MeSH" title="MedGen record for Atrial situs ambiguous">Atrial situs ambiguous</a></span></li><li><span class="TLline"><a href="/medgen/868901" ref="tree=MeSH" title="MedGen record for Atrial situs inversus">Atrial situs inversus</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/868898" ref="tree=MeSH" title="MedGen record for Criss-cross atrioventricular valves with superior-inferior ventricles">Criss-cross atrioventricular valves with superior-inferior ventricles</a></span></li></ul></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 totalis">Situs inversus totalis</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/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><ul><li><span class="TLline"><a href="/medgen/1384871" ref="tree=MeSH" title="MedGen record for Bicuspid aortic valve with left-noncoronary cusp fusion">Bicuspid aortic valve with left-noncoronary cusp fusion</a></span></li><li><span class="TLline"><a href="/medgen/1387510" ref="tree=MeSH" title="MedGen record for Bicuspid aortic valve with right-left cusp fusion">Bicuspid aortic valve with right-left cusp fusion</a></span></li><li><span class="TLline"><a href="/medgen/1385812" ref="tree=MeSH" title="MedGen record for Bicuspid aortic valve with right-noncoronary cusp fusion">Bicuspid aortic valve with right-noncoronary cusp fusion</a></span></li></ul></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></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">Hypoplastic left heart</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><ul><li><span class="TLline"><a href="/medgen/1842277" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy">Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy</a></span></li><li><span class="TLline"><a href="/medgen/489000" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis">Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/868837" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis">Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/365501" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with non-committed subpulmonary ventricular septal defect">Double outlet right ventricle with non-committed subpulmonary ventricular septal defect</a></span></li><li><span class="TLline"><a href="/medgen/868836" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis">Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/868835" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis">Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/1843284" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subaortic or doubly committed ventricular septal defect">Double outlet right ventricle with subaortic or doubly committed ventricular septal defect</a></span></li><li><span class="TLline"><a href="/medgen/798712" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis">Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/868834" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis">Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/868833" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis">Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/365502" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subpulmonary ventricular septal defect">Double outlet right ventricle with subpulmonary ventricular septal defect</a></span></li><li><span class="TLline"><a href="/medgen/868832" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis">Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/408331" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis">Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/52867" ref="tree=MeSH" title="MedGen record for Truncus arteriosus">Truncus arteriosus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/501123" ref="tree=MeSH" title="MedGen record for Atrioventricular septal defect">Atrioventricular septal defect</a></span><ul><li><span class="TLline"><a href="/medgen/768593" ref="tree=MeSH" title="MedGen record for Complete Atrioventricular Canal Defect Balanced">Complete Atrioventricular Canal Defect Balanced</a></span></li><li><span class="TLline"><a href="/medgen/768594" ref="tree=MeSH" title="MedGen record for Complete Atrioventricular Canal Defect Unbalanced">Complete Atrioventricular Canal Defect Unbalanced</a></span></li></ul></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></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/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><ul><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/462303" ref="tree=MeSH" title="MedGen record for Long QT syndrome 6">Long QT syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/395635" ref="tree=MeSH" title="MedGen record for Long QT syndrome 9">Long QT syndrome 9</a></span></li><li><span class="TLline"><a href="/medgen/394836" ref="tree=MeSH" title="MedGen record for Long QT syndrome 10">Long QT syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/437218" ref="tree=MeSH" title="MedGen record for Long QT syndrome 11">Long QT syndrome 11</a></span></li><li><span class="TLline"><a href="/medgen/442824" ref="tree=MeSH" title="MedGen record for Long QT syndrome 12">Long QT syndrome 12</a></span></li><li><span class="TLline"><a href="/medgen/462083" ref="tree=MeSH" title="MedGen record for Long QT syndrome 13">Long QT syndrome 13</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/864108" ref="tree=MeSH" title="MedGen record for Long QT syndrome 14">Long QT syndrome 14</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><ul><li><span class="TLline"><a href="/medgen/868824" ref="tree=MeSH" title="MedGen record for Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries">Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/868861" ref="tree=MeSH" title="MedGen record for Congenitally corrected transposition of the great arteries with ventricular septal defect">Congenitally corrected transposition of the great arteries with ventricular septal defect</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/1843053" ref="tree=MeSH" title="MedGen record for Congenitally uncorrected transposition of the great arteries with cardiac malformation">Congenitally uncorrected transposition of the great arteries with cardiac malformation</a></span></li><li><span class="TLline"><a href="/medgen/1842891" ref="tree=MeSH" title="MedGen record for Congenitally uncorrected transposition of the great arteries with coarctation">Congenitally uncorrected transposition of the great arteries with coarctation</a></span></li><li><span class="TLline"><a href="/medgen/1842921" ref="tree=MeSH" title="MedGen record for Isolated congenitally uncorrected transposition of the great arteries">Isolated congenitally uncorrected transposition of the great arteries</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/868855" ref="tree=MeSH" title="MedGen record for Abnormality of abdominal situs">Abnormality of abdominal situs</a></span></li><li><span class="TLline"><a href="/medgen/1634559" ref="tree=MeSH" title="MedGen record for Isomerism">Isomerism</a></span></li></ul></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></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_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_66078"><div><strong>Treacher Collins syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66078</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.">C0242387</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Treacher Collins syndrome (TCS) is characterized by lower eyelid abnormalities, malar hypoplasia, downslanted palpebral fissures, and micro- or retrognathia due to symmetric hypoplasia of the zygomatic bones, maxilla, and mandible. External ear anomalies include absent, small, malformed, and/or posteriorly rotated ears and atresia or stenosis of the external auditory canals. About 40%-50% of individuals have conductive hearing loss attributed most commonly to malformation of the ossicles and hypoplasia of the middle ear cavities. Inner ear structures tend to be normal. Significant respiratory and feeding difficulties can be present in infancy. Other, less common abnormalities include cleft palate and unilateral or bilateral choanal stenosis or atresia. Typically, intellect is normal.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/66078">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_120531"><div><strong>Greig cephalopolysyndactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120531</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.">C0265306</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Typical Greig cephalopolysyndactyly syndrome (GCPS) is characterized by macrocephaly, widely spaced eyes associated with increased interpupillary distance, preaxial polydactyly with or without postaxial polydactyly, and cutaneous syndactyly. Developmental delay, intellectual disability, or seizures appear to be uncommon manifestations (~<10%) of GCPS and may be more common in individuals with large (>300-kb) deletions that encompass GLI3. Approximately 20% of individuals with GCPS have hypoplasia or agenesis of the corpus callosum.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/120531">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_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_167095"><div><strong>Lowry-MacLean syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167095</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.">C0796020</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 microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. Only three cases have been reported in the literature in three unrelated families. Dysmorphic features include trigonocephaly, exotropia, cleft palate, beaked nose and low-set ears. All the affected patients have associated congenital visceral malformations including congenital heart defects, diaphragmatic hernia, genital or cerebral abnormalities. The demonstration of congenital glaucoma, hallmark of the syndrome, in the father of an affected patient, supports autosomal dominant inheritance. Prognosis is poor.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/167095">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_307142"><div><strong>Orofaciodigital syndrome I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>307142</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.">C1510460</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Oral-facial-digital syndrome type I (OFD1) is usually male lethal during gestation and predominantly affects females. OFD1 is characterized by the following: oral features (lobulated tongue, tongue nodules, cleft of the hard or soft palate, accessory gingival frenulae, hypodontia, and other dental abnormalities); facial features (widely spaced eyes, telecanthus, hypoplasia of the alae nasi, median cleft or pseudocleft of the upper lip, micrognathia); digital features (brachydactyly, syndactyly, clinodactyly of the fifth finger, duplicated great toe); polycystic kidney disease; brain MRI findings (intracerebral cysts, agenesis of the corpus callosum, cerebellar agenesis with or without Dandy-Walker malformation); and intellectual disability (in approximately 50% of affected individuals).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/307142">Condition Record</a></div></div>
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<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>
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<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>
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<div class="spaceAbove nowrap">See: <a href="/medgen/316937">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_321991"><div><strong>Naxos disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>321991</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.">C1832600</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Naxos disease (NXD) is characterized by arrhythmogenic right ventricular cardiomyopathy associated with abnormalities of the skin, hair, and nails. The ectodermal features are evident from birth or early childhood, whereas the cardiac symptoms develop in young adulthood or later. Clinical variability of ectodermal features has been observed, with hair anomalies ranging from woolly hair to alopecia, and skin abnormalities ranging from mild focal palmoplantar keratoderma to generalized skin fragility or even lethal neonatal epidermolysis bullosa (Protonotarios et al., 1986; Cabral et al., 2010; Pigors et al., 2011; Erken et al., 2011; Sen-Chowdhry and McKenna, 2014). Another syndrome involving cardiomyopathy, woolly hair, and keratoderma (DCWHK; 605676) is caused by mutation in the desmoplakin gene (DSP; 125647). Also see 610476 for a similar disorder caused by homozygous mutation in the DSC2 gene (125645).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/321991">Condition Record</a></div></div>
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<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>
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<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>
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<div class="spaceAbove nowrap">See: <a href="/medgen/376400">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_376653"><div><strong>Gillessen-Kaesbach-Nishimura syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376653</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.">C1849762</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Gillessen-Kaesbach-Nishimura syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by skeletal dysplasia, dysmorphic facial features, and variable visceral abnormalities, including polycystic kidneys, diaphragmatic hernia, lung hypoplasia, and congenital heart defects. It may be lethal in utero or early in life. The disorder is at the severe end of the phenotypic spectrum of congenital disorders of glycosylation (summary by Tham et al., 2016).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/376653">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_342798"><div><strong>Cerebrooculofacioskeletal syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342798</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.">C1853100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebrooculofacioskeletal syndrome-4 (COFS4) is a severe autosomal recessive disorder characterized by growth retardation, dysmorphic facial features, arthrogryposis, and neurologic abnormalities. Cellular studies show a defect in both transcription-coupled and global genome nucleotide excision repair (TC-NER and GG-NER) (summary by Jaspers et al., 2007 and Kashiyama et al., 2013). For a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see 214150.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342798">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341067"><div><strong>Mowat-Wilson syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341067</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.">C1856113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes with a central depression), congenital heart defects with predilection for abnormalities of the pulmonary arteries and/or valves, Hirschsprung disease or chronic constipation, genitourinary anomalies (particularly hypospadias in males), and hypogenesis or agenesis of the corpus callosum. Most affected individuals have moderate-to-severe intellectual disability. Speech is typically limited to a few words or is absent, with relative preservation of receptive language skills. Growth restriction with microcephaly and seizure disorder are also common. Most affected people have a happy demeanor and a wide-based gait that can sometimes be confused with Angelman syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341067">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_350085"><div><strong>Spinocerebellar ataxia type 29</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350085</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.">C1861732</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinocerebellar ataxia-29 (SCA29) is an autosomal dominant neurologic disorder characterized by onset in infancy of delayed motor development and mild cognitive delay. Affected individuals develop a very slowly progressive or nonprogressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor (summary by Huang et al., 2012). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350085">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_354620"><div><strong>Camptomelic dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354620</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.">C1861922</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Campomelic dysplasia (CD) is a skeletal dysplasia characterized by distinctive facies, Pierre Robin sequence with cleft palate, shortening and bowing of long bones, and clubfeet. Other findings include laryngotracheomalacia with respiratory compromise and ambiguous genitalia or normal female external genitalia in most individuals with a 46,XY karyotype. Many affected infants die in the neonatal period; additional findings identified in long-term survivors include short stature, cervical spine instability with cord compression, progressive scoliosis, and hearing impairment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/354620">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_394125"><div><strong>Fontaine progeroid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394125</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.">C2676780</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SLC25A24 Fontaine progeroid syndrome is a multisystem connective tissue disorder characterized by poor growth, abnormal skeletal features, and distinctive craniofacial features with sagging, thin skin, and decreased subcutaneous fat suggesting an aged appearance that is most pronounced in infancy and improves with time. Characteristic radiographic features include turribrachycephaly with widely open anterior fontanelle, craniosynostosis, and anomalies of the terminal phalanges. Cardiovascular, genitourinary, ocular, and gastrointestinal abnormalities may also occur. To date, 13 individuals with a molecularly confirmed diagnosis of SLC25A24 Fontaine progeroid syndrome have been described.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/394125">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462003"><div><strong>Fanconi anemia complementation group O</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462003</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.">C3150653</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/462003">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_463627"><div><strong>Fanconi anemia complementation group D2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463627</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.">C3160738</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/463627">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_463628"><div><strong>Fanconi anemia complementation group E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463628</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.">C3160739</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/463628">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_467404"><div><strong>Chromosome 15q11.2 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>467404</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.">C3180937</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A heterozygous deletion of chromosome 15q11.2 may increase the susceptibility to neuropsychiatric or neurodevelopmental problems, including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, and possibly seizures (summary by Doornbos et al., 2009 and Burnside et al., 2011). See also chromosome 15q11.2 duplication syndrome (608636).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/467404">Condition Record</a></div></div>
|
||
<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>
|
||
<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/483333">Condition Record</a></div></div>
|
||
<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>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/763187">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766161"><div><strong>Intellectual disability, autosomal dominant 14</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766161</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.">C3553247</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<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 ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by Kosho et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). The chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766161">Condition Record</a></div></div>
|
||
<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>
|
||
<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_767108"><div><strong>Congenital heart defects, multiple types, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767108</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.">C3554194</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple types of congenital heart defects-3 (CHTD3) is an autosomal dominant condition characterized by various types of congenital heart defects and low atrial rhythm (van de Meerakker et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of multiple types of congenital heart defects, see 306955.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767108">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>
|
||
<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_924419"><div><strong>Intellectual disability, X-linked 61</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924419</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.">C4283894</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tonne-Kalscheuer syndrome (TOKAS) is an X-linked recessive multiple congenital anomaly disorder with 2 main presentations. Most patients exhibit global developmental delay apparent from early infancy, impaired intellectual development, speech delay, behavioral abnormalities, and abnormal gait. Affected individuals also have dysmorphic facial features that evolve with age, anomalies of the hands, feet, and nails, and urogenital abnormalities with hypogenitalism. A subset of more severely affected males develop congenital diaphragmatic hernia in utero, which may result in perinatal or premature death. Carrier females may have very mild skeletal or hormonal abnormalities (summary by Frints et al., 2019). Also see Fryns syndrome (229850), an autosomal recessive disorder with overlapping features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/924419">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934706"><div><strong>Okur-Chung neurodevelopmental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934706</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.">C4310739</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with Okur-Chung neurodevelopmental syndrome (OCNDS) frequently have nonspecific clinical features, delayed language development, motor delay, intellectual disability (typically in the mild-to-moderate range), generalized hypotonia starting in infancy, difficulty feeding, and nonspecific dysmorphic facial features. Developmental delay affects all areas of development, but language is more impaired than gross motor skills in most individuals. Intellectual disability has been reported in about three quarters of individuals. Less common findings may include kyphoscoliosis, postnatal short stature, disrupted circadian rhythm leading to sleep disturbance, seizures, and poor coordination.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934706">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1612119"><div><strong>Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1612119</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.">C4539968</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1612119">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1639061"><div><strong>Fraser syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1639061</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551480</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser Syndrome Fraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (608945) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3; 617667) is caused by mutation in the GRIP1 gene (604597) on chromosome 12q14. See Bowen syndrome (211200) for a comparable but probably distinct syndrome of multiple congenital malformations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1639061">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1647044"><div><strong>Hyperphosphatasia with intellectual disability syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647044</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.">C4551502</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperphosphatasia with impaired intellectual development syndrome-1 (HPMRS1) is an autosomal recessive disorder characterized by impaired intellectual development, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by Krawitz et al., 2010). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (610293). Genetic Heterogeneity of Hyperphosphatasia with Impaired Intellectual Development Syndrome See also HPMRS2 (614749), caused by mutation in the PIGO gene (614730) on chromosome 9p13; HPMRS3 (614207), caused by mutation in the PGAP2 gene (615187) on chromosome 11p15; HPMRS4 (615716), caused by mutation in the PGAP3 gene (611801) on chromosome 17q12; HPMRS5 (616025), caused by mutation in the PIGW gene (610275) on chromosome 17q12; and HPMRS6 (616809), caused by mutation in the PIGY gene (610662) on chromosome 4q22. Knaus et al. (2018) provided a review of the main clinical features of the different types of HPMRS, noting that some patients have a distinct pattern of facial anomalies that can be detected by computer-assisted comparison, particularly those with mutations in the PIGV and PGAP3 genes. Individuals with HPMRS have variable increased in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between HPMRS and MCAHS (see, e.g., 614080), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1647044">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1648451"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 29</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648451</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.">C4748830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Mitochondrial complex I deficiency nuclear type 29 (MC1DN29) is an autosomal recessive metabolic disorder that usually presents in childhood, adolescence, or adulthood with exercise intolerance and easy fatigue with myalgias and muscle weakness. However, a severe multisystem presentation with chronic renal failure and cardiomyopathy in infancy has been reported (Sanchez-Caballero et al., 2016; Alston et al., 2016). For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648451">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1674629"><div><strong>Congenital hypotonia, epilepsy, developmental delay, and digital anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1674629</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.">C5193125</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">ATN1-related neurodevelopmental disorder (ATN1-NDD) is characterized by developmental delay / intellectual disability. Other neurologic findings can include infantile hypotonia, brain malformations, epilepsy, cortical visual impairment, and hearing loss. Feeding difficulties, present in some individuals, may require gastrostomy support when severe; similarly, respiratory issues, present in some, may require respiratory support after the neonatal period. Distinctive facial features and hand and foot differences are common. Other variable findings can include cardiac malformations and congenital anomalies of the kidney and urinary tract (CAKUT). To date, 18 individuals with ATN1-NDD have been identified.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1674629">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684661"><div><strong>Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684661</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.">C5231414</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684661">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1768809"><div><strong>FG syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1768809</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.">C5399762</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. HS has been described in females with cleft lip and/or cleft palate, biliary and liver anomalies, intestinal malrotation, pigmentary retinopathy, and coarctation of the aorta. Developmental and cognitive concerns have not been reported in females with HS. Pathogenic variants in MED12 have been reported in an increasing number of males and females with NSID, with affected individuals often having clinical features identified in other MED12-related disorders.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1768809">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1770070"><div><strong>Autosomal recessive Robinow syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1770070</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.">C5399974</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">ROR2-related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnormalities, and other anomalies. Craniofacial features include macrocephaly, broad prominent forehead, low-set ears, ocular hypertelorism, prominent eyes, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large and triangular mouth with exposed incisors and upper gums, gum hypertrophy, misaligned teeth, ankyloglossia, and micrognathia. Skeletal abnormalities include short stature, mesomelic or acromesomelic limb shortening, hemivertebrae with fusion of thoracic vertebrae, and brachydactyly. Other common features include micropenis with or without cryptorchidism in males and reduced clitoral size and hypoplasia of the labia majora in females, renal tract abnormalities, and nail hypoplasia or dystrophy. The disorder is recognizable at birth or in early childhood.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1770070">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>
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<div class="divPopper rprt" id="rdis_1780019"><div><strong>Megacystis-microcolon-intestinal hypoperistalsis syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1780019</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.">C5543513</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital defect of visceral smooth muscle, primarily affecting females who present at birth with functional obstruction of the intestine, microcolon, dilation of the bladder, and secondary hydronephrosis. Total parenteral nutrition, adequate intermittent catheterization of bladder, and surgical corrections for intestinal malrotation are frequent modes of treatment for this disease without which rapid death ensues. In some instances, multivisceral organ transplantation has been undertaken with some success. Despite these clinical interventions, MMIHS often leads to premature death due to complications of therapy (summary by Halim et al., 2017). For a discussion of genetic heterogeneity of MMIHS, see 249210.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1780019">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1840225"><div><strong>Intellectual developmental disorder, X-linked 112</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840225</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.">C5829589</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">X-linked intellectual disorder-112 (XLID112) is a neurodevelopmental disorder characterized by developmental delay, with speech delay more prominent than motor delay, autism or autism traits, and variable dysmorphic features. Affected females have been reported, which appears to be related to skewed X-inactivation (summary by Hiatt et al., 2023).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1840225">Condition Record</a></div></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>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1770070" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive Robinow syndrome</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_354620" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Camptomelic dysplasia</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (44)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342798" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebrooculofacioskeletal syndrome 4</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_467404" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 15q11.2 deletion syndrome</a></div>
|
||
<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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1612119" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767108" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital heart defects, multiple types, 3</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1674629" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital hypotonia, epilepsy, developmental delay, and digital anomalies</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_463627" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group D2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463628" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group E</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462003" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group O</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1768809" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">FG syndrome 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394125" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fontaine progeroid syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1639061" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fraser syndrome 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376653" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gillessen-Kaesbach-Nishimura syndrome</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_120531" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Greig cephalopolysyndactyly syndrome</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_1647044" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperphosphatasia with intellectual disability syndrome 1</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_1840225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder, X-linked 112</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766161" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 14</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_924419" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, X-linked 61</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_167095" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lowry-MacLean syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1780019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megacystis-microcolon-intestinal hypoperistalsis syndrome 3</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_1648451" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 29</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341067" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mowat-Wilson syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_321991" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Naxos disease</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684661" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934706" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Okur-Chung neurodevelopmental syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_307142" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome I</a></div>
|
||
<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>
|
||
<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>
|
||
<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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350085" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 29</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_66078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Treacher Collins syndrome</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/36322642">2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Isselbacher EM,
|
||
Preventza O,
|
||
Hamilton Black J 3rd,
|
||
Augoustides JG,
|
||
Beck AW,
|
||
Bolen MA,
|
||
Braverman AC,
|
||
Bray BE,
|
||
Brown-Zimmerman MM,
|
||
Chen EP,
|
||
Collins TJ,
|
||
DeAnda A Jr,
|
||
Fanola CL,
|
||
Girardi LN,
|
||
Hicks CW,
|
||
Hui DS,
|
||
Schuyler Jones W,
|
||
Kalahasti V,
|
||
Kim KM,
|
||
Milewicz DM,
|
||
Oderich GS,
|
||
Ogbechie L,
|
||
Promes SB,
|
||
Gyang Ross E,
|
||
Schermerhorn ML,
|
||
Singleton Times S,
|
||
Tseng EE,
|
||
Wang GJ,
|
||
Woo YJ;
|
||
Peer Review Committee Members</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2022 Dec 13;146(24):e334-e482.
|
||
Epub 2022 Nov 2
|
||
doi: 10.1161/CIR.0000000000001106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36322642" target="_blank">36322642</a><a href="/pmc/articles/PMC9876736" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32561223">Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corrado D,
|
||
Perazzolo Marra M,
|
||
Zorzi A,
|
||
Beffagna G,
|
||
Cipriani A,
|
||
Lazzari M,
|
||
Migliore F,
|
||
Pilichou K,
|
||
Rampazzo A,
|
||
Rigato I,
|
||
Rizzo S,
|
||
Thiene G,
|
||
Anastasakis A,
|
||
Asimaki A,
|
||
Bucciarelli-Ducci C,
|
||
Haugaa KH,
|
||
Marchlinski FE,
|
||
Mazzanti A,
|
||
McKenna WJ,
|
||
Pantazis A,
|
||
Pelliccia A,
|
||
Schmied C,
|
||
Sharma S,
|
||
Wichter T,
|
||
Bauce B,
|
||
Basso C</span><br />
|
||
<span class="medgenPMjournal">Int J Cardiol</span>
|
||
2020 Nov 15;319:106-114.
|
||
Epub 2020 Jun 16
|
||
doi: 10.1016/j.ijcard.2020.06.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32561223" target="_blank">32561223</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32199055">Congenital heart disease, prenatal diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meller CH,
|
||
Grinenco S,
|
||
Aiello H,
|
||
Córdoba A,
|
||
Sáenz-Tejeira MM,
|
||
Marantz P,
|
||
Otaño L</span><br />
|
||
<span class="medgenPMjournal">Arch Argent Pediatr</span>
|
||
2020 Apr;118(2):e149-e161.
|
||
doi: 10.5546/aap.2020.eng.e149.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32199055" target="_blank">32199055</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20heart%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 (5383)</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/28304193">Peptidomic Analysis of Fetal Heart Tissue for Identification of Endogenous Peptides Involved in Tetralogy of Fallot.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang J,
|
||
Liang D,
|
||
Cheng Q,
|
||
Cao L,
|
||
Wu Y,
|
||
Wang Y,
|
||
Han S,
|
||
Yu Z,
|
||
Cui X,
|
||
Xu T,
|
||
Ma D,
|
||
Hu P,
|
||
Xu Z</span><br />
|
||
<span class="medgenPMjournal">DNA Cell Biol</span>
|
||
2017 Jun;36(6):451-461.
|
||
Epub 2017 Mar 17
|
||
doi: 10.1089/dna.2017.3647.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28304193" target="_blank">28304193</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20heart%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 (1)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39964375">Comprehensive review and outline of genotypes and phenotypes of Arboleda-Tham syndrome spectrum: insights from novel variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bayat S,
|
||
Gholami M,
|
||
Khodadadi H,
|
||
Ghazavi M,
|
||
Nasiri J,
|
||
Kheirollahi M</span><br />
|
||
<span class="medgenPMjournal">Mol Biol Rep</span>
|
||
2025 Feb 18;52(1):242.
|
||
doi: 10.1007/s11033-025-10302-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39964375" target="_blank">39964375</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20heart%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 (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0018798%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0018798%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0018798%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0018798%5bDISCUI%5d" target="_blank">See all (2)</a></total></li>
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</ul></div>
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</div>
|
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<div class="portlet mgSection" id="ID_119">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Abnormal%20heart%20morphology" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
||
|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20heart%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Abnormal%20heart%20morphology%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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</div>
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||
|
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<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/heart_malformation_of" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Abnormal%20heart%20morphology" target="_blank">MedlinePlus</a></li></ul></div>
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<div class="portlet_head">
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<div class="portlet_title">
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<h3>Reviews</h3>
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