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<meta name="keywords" content="C0037221, abdominal situs inversus, complete transposition, congenital abnormality, inversus, situs, situs inversus, situs inversus visceralis, situs inversus viscerum, situs transversus, visceral inversion, 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="A left-right reversal (or mirror reflection) of the anatomical location of the viscera of the abdomen." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=52359
ConceptID=C0037221
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abdominal situs inversus</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52359</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)&#10;Click for more information.">C0037221</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Complete transposition; Situs inversus viscerum</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Complete transposition (27317008); Situs inversus (27317008); Situs transversus (27317008); Situs inversus (43876007); Situs inversus viscerum (43876007); Visceral inversion (43876007)</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:0003363">HP:0003363</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">A left-right reversal (or mirror reflection) of the anatomical location of the viscera of the abdomen. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0037221[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=52359">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=52359" ref="ncbi_uid=52359">V</a></span></span><span class="TLline">Abdominal situs inversus</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/311052" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder">Non-Neoplastic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/317955" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder by Special Category">Non-Neoplastic Disorder by Special Category</a></span><ul><li><span class="TLline"><a href="/medgen/90143" ref="tree=MeSH" title="MedGen record for Deformity">Deformity</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><ul><li><span class="matched_ds">Abdominal situs inversus</span><ul><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/473002" ref="tree=MeSH" title="MedGen record for Situs inversus thoracis">Situs inversus thoracis</a></span><ul><li><span class="TLline"><a href="/medgen/768595" ref="tree=MeSH" title="MedGen record for Dextrocardia Situs Solitus">Dextrocardia Situs Solitus</a></span></li></ul></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></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 mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_120524"><div><strong>Holt-Oram syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120524</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C0265264</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. Upper-limb malformations may be unilateral, bilateral/symmetric, or bilateral/asymmetric and can range from triphalangeal or absent thumb(s) to phocomelia. Other upper-limb malformations can include unequal arm length caused by aplasia or hypoplasia of the radius, fusion or anomalous development of the carpal and thenar bones, abnormal forearm pronation and supination, abnormal opposition of the thumb, sloping shoulders, and restriction of shoulder joint movement. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. A congenital heart malformation is present in 75% of individuals with HOS and most commonly involves the septum. Atrial septal defect and ventricular septal defect can vary in number, size, and location. Complex congenital heart malformations can also occur in individuals with HOS. Individuals with HOS with or without a congenital heart malformation are at risk for cardiac conduction disease. While individuals may present at birth with sinus bradycardia and first-degree atrioventricular (AV) block, AV block can progress unpredictably to a higher grade including complete heart block with and without atrial fibrillation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/120524">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_237904"><div><strong>Heterotaxy, visceral, 2, autosomal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>237904</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)&#10;Click for more information.">C1415817</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The more common form of transposition of the great arteries, dextro-looped TGA, consists of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. (In the less common type of TGA, levo-looped TGA, the ventricles are inverted instead) (Goldmuntz et al., 2002). This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. Patients with TGA often have atrial and/or ventricular septal defects or other types of shunting that allow some mixing between the circulations in order to support life minimally, but surgical intervention is always required.&#13; For a discussion of genetic heterogeneity of dextro-looped transposition of the great arteries, see 608808.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/237904">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_336609"><div><strong>Heterotaxy, visceral, 1, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336609</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)&#10;Click for more information.">C1844020</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Heterotaxy&#13; Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder.&#13; Multiple Types of Congenital Heart Defects&#13; Congenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011).&#13; Reviews&#13; Obler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations.&#13; Genetic Heterogeneity of Visceral Heterotaxy&#13; See also HTX2 (605376), caused by mutation in the CFC1 gene (605194) on chromosome 2q21; HTX3 (606325), which maps to chromosome 6q21; HTX4 (613751), caused by mutation in the ACVR2B gene (602730) on chromosome 3p22; HTX5 (270100), caused by mutation in the NODAL gene (601265) on chromosome 10q22; HTX6 (614779), caused by mutation in the CCDC11 gene (614759) on chromosome 18q21; HTX7 (616749), caused by mutation in the MMP21 gene (608416) on chromosome 10q26; HTX8 (617205), caused by mutation in the PKD1L1 gene (609721) on chromosome 7p12; HTX9 (618948), caused by mutation in the MNS1 gene (610766) on chromosome 15q21; HTX10 (619607), caused by mutation in the CFAP52 gene (609804) on chromosome 17p13; HTX11 (619608), caused by mutation in the CFAP45 gene (605152) on chromosome 1q23; HTX12 (619702), caused by mutation in the CIROP gene (619703) on chromosome 14q11; HTX13 (621079), caused by mutation in the DAND5 gene (609068) on chromosome 19p13; and HTX14 (621080), caused by mutation in the CIROZ gene (619700) on chromosome 1p36.&#13; Genetic Heterogeneity of Multiple Types of Congenital Heart Defects&#13; An X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (614980) is caused by mutation in the TAB2 gene (605101) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3; 614954) has been mapped to chromosome 9q31. CHTD4 (615779) is caused by mutation in the NR2F2 gene (107773) on chromosome 15q26. CHTD5 (617912) is caused by mutation in the GATA5 gene (611496) on chromosome 20q13. CHTD6 (613854) is caused by mutation in the GDF1 gene (602880) on chromosome 19p13. CHTD7 (618780) is caused by mutation in the FLT4 gene (136352) on chromosome 5q35. CHTD8 (619657) is caused by mutation in the SMAD2 gene (601366) on chromosome 18q21. CHTD9 (620294) is caused by mutation in the PLXND1 gene (604282) on chromosome 3q22.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/336609">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_501198"><div><strong>Heterotaxy, visceral, 5, autosomal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501198</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)&#10;Click for more information.">C3495537</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder.&#13; For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/501198">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_766590"><div><strong>Heterotaxy, visceral, 6, autosomal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766590</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)&#10;Click for more information.">C3553676</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Visceral heterotaxy-6 (HTX6) is characterized by dextrocardia with or without accompanying complex cardiovascular defects, as well as variable manifestations of visceral heterotaxy, including situs inversus totalis (Perles et al., 2012).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/766590">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934635"><div><strong>Heterotaxy, visceral, 8, autosomal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934635</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)&#10;Click for more information.">C4310668</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Visceral heterotaxy-8 (HTX8) is an autosomal recessive developmental disorder characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs (summary by Vetrini et al., 2016).&#13; For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934635">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1684675"><div><strong>Ciliary dyskinesia, primary, 43</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684675</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)&#10;Click for more information.">C5231466</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-43 (CILD43) is a disorder characterized by a defect in motile cilia and ciliary clearance resulting in the onset of respiratory insufficiency soon after birth, and associated with recurrent upper and lower respiratory infections with chronic progressive lung disease. Patients with this disorder also develop significant obstructive hydrocephalus requiring shunting in infancy, although adult onset of neurologic symptoms may occur. Other more variable features include infertility and about a 50% chance of situs inversus or other left-right asymmetry defects. The disorder is considered to be a type of ciliopathy known as 'reduced generation of multiple motile cilia' (RGMC) (summary by Wallmeier et al., 2019).&#13; For a discussion of genetic heterogeneity of primary ciliary dyskinesia, CILD1 (244400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1684675">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1721861"><div><strong>Cardiofacioneurodevelopmental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1721861</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)&#10;Click for more information.">C5436852</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cardiofacioneurodevelopmental syndrome (CFNDS) is characterized by microcephaly, midline facial defects, developmental delay, and cerebellar hypoplasia. Variable cardiac defects may be present, including atrioventricular canal and ventricular septal defects. Heterotaxy has also been reported (Harel et al., 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1721861">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794282"><div><strong>Heterotaxy, visceral, 10, autosomal, with male infertility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794282</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)&#10;Click for more information.">C5562072</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Visceral heterotaxy-10 (HTX10) is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis. Affected individuals may experience mild chronic respiratory symptoms, but do not fulfill the criteria for primary ciliary dyskinesia (see 244400). Male infertility has been reported (Ta-Shma et al., 2015; Dougherty et al., 2020).&#13; For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794282">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1852921"><div><strong>Ciliary dyskinesia, primary, 52</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1852921</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)&#10;Click for more information.">C5882714</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-52 (CILD52) is an autosomal recessive disorder characterized by laterality defects and mild respiratory symptoms due to subtle ciliary beating defects (summary by Leslie et al., 2022).&#13; For a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1852921">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1851509"><div><strong>Ciliary dyskinesia, primary, 53</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1851509</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)&#10;Click for more information.">C5882728</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-53 (CILD53) is an autosomal recessive disorder characterized by randomization of the left-right body asymmetry and respiratory symptoms (Hjeij et al., 2023).&#13; For a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1851509">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1721861" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiofacioneurodevelopmental syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684675" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ciliary dyskinesia, primary, 43</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1852921" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ciliary dyskinesia, primary, 52</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1851509" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ciliary dyskinesia, primary, 53</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336609" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 1, X-linked</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (11)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794282" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 10, autosomal, with male infertility</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_237904" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 2, autosomal</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501198" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 5, autosomal</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766590" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 6, autosomal</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 8, autosomal</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120524" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Holt-Oram syndrome</a></div></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/7609017">Azygous continuation of the interrupted inferior vena cava: a clue to prenatal diagnosis of the cardiosplenic syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sheley RC,
Nyberg DA,
Kapur R</span><br />
<span class="medgenPMjournal">J Ultrasound Med</span>
1995 May;14(5):381-7.
doi: 10.7863/jum.1995.14.5.381.
<span class="bold">PMID: </span><a href="/pubmed/7609017" target="_blank">7609017</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22abdominal%20situs%20inversus%22%5Btiab%3A~0%5D)%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 (1)</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/38909657">Thoracic duct drainage patterns in heterotaxy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Castellanos DA,
Bucholz EM,
Bai K,
Esch JJ,
Hoganson D,
Sanders SP,
Shaikh R,
Ghelani SJ,
Schidlow DN</span><br />
<span class="medgenPMjournal">J Cardiovasc Magn Reson</span>
2024 Winter;26(2):101050.
Epub 2024 Jun 21
doi: 10.1016/j.jocmr.2024.101050.
<span class="bold">PMID: </span><a href="/pubmed/38909657" target="_blank">38909657</a><a href="/pmc/articles/PMC11283042" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27821535">Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cowan JR,
Tariq M,
Shaw C,
Rao M,
Belmont JW,
Lalani SR,
Smolarek TA,
Ware SM</span><br />
<span class="medgenPMjournal">Philos Trans R Soc Lond B Biol Sci</span>
2016 Dec 19;371(1710)
doi: 10.1098/rstb.2015.0406.
<span class="bold">PMID: </span><a href="/pubmed/27821535" target="_blank">27821535</a><a href="/pmc/articles/PMC5104505" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19493518">Two cases of Mayer-Rokitansky-Kuster-Hauser Syndrome with situs inversus totalis: coincidence or co-existence?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ozkurt H,
Cenker MM,
Keskiner F,
Basak M</span><br />
<span class="medgenPMjournal">J Pediatr Adolesc Gynecol</span>
2009 Aug;22(4):e57-60.
Epub 2009 Jun 2
doi: 10.1016/j.jpag.2008.04.007.
<span class="bold">PMID: </span><a href="/pubmed/19493518" target="_blank">19493518</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7609017">Azygous continuation of the interrupted inferior vena cava: a clue to prenatal diagnosis of the cardiosplenic syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sheley RC,
Nyberg DA,
Kapur R</span><br />
<span class="medgenPMjournal">J Ultrasound Med</span>
1995 May;14(5):381-7.
doi: 10.7863/jum.1995.14.5.381.
<span class="bold">PMID: </span><a href="/pubmed/7609017" target="_blank">7609017</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1416442">Orthotopic liver transplantation with abdominal situs inversus and dextrocardia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Barone GW,
Henry ML,
Elkhammas EA,
Tesi RJ,
Ferguson RM</span><br />
<span class="medgenPMjournal">Am Surg</span>
1992 Oct;58(10):651-3.
<span class="bold">PMID: </span><a href="/pubmed/1416442" target="_blank">1416442</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abdominal%20situs%20inversus%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 (6)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38909657">Thoracic duct drainage patterns in heterotaxy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Castellanos DA,
Bucholz EM,
Bai K,
Esch JJ,
Hoganson D,
Sanders SP,
Shaikh R,
Ghelani SJ,
Schidlow DN</span><br />
<span class="medgenPMjournal">J Cardiovasc Magn Reson</span>
2024 Winter;26(2):101050.
Epub 2024 Jun 21
doi: 10.1016/j.jocmr.2024.101050.
<span class="bold">PMID: </span><a href="/pubmed/38909657" target="_blank">38909657</a><a href="/pmc/articles/PMC11283042" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36316122">A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ganapathi M,
Buchovecky CM,
Cristo F,
Ahimaz P,
Ruzal-Shapiro C,
Wou K,
Inácio JM,
Iglesias A,
Belo JA,
Jobanputra V</span><br />
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
2022 Dec;8(7)
Epub 2022 Dec 28
doi: 10.1101/mcs.a006248.
<span class="bold">PMID: </span><a href="/pubmed/36316122" target="_blank">36316122</a><a href="/pmc/articles/PMC9808554" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25917470">Clinics in diagnostic imaging (160). Levocardia with abdominal situs inversus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Abdullah NL,
Quek SC,
Seto KY,
Teo LL</span><br />
<span class="medgenPMjournal">Singapore Med J</span>
2015 Apr;56(4):198-201; quiz 202.
doi: 10.11622/smedj.2015059.
<span class="bold">PMID: </span><a href="/pubmed/25917470" target="_blank">25917470</a><a href="/pmc/articles/PMC4415098" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3466734">"Pseudo" abdominal situs inversus following trauma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Grimmond AP,
Karimeddini MK,
Spencer RP</span><br />
<span class="medgenPMjournal">Clin Nucl Med</span>
1986 Nov;11(11):809.
doi: 10.1097/00003072-198611000-00025.
<span class="bold">PMID: </span><a href="/pubmed/3466734" target="_blank">3466734</a></div>
<div class="nl"><a target="_blank" href="/pubmed/451178">Isolated azygos continuation of the inferior vena cava.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hoeffel JC,
Auguste JP,
Luceri R,
Worms AM,
Pernot C</span><br />
<span class="medgenPMjournal">Radiologe</span>
1979 May;19(5):193-5.
<span class="bold">PMID: </span><a href="/pubmed/451178" target="_blank">451178</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abdominal%20situs%20inversus%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 (11)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/19493518">Two cases of Mayer-Rokitansky-Kuster-Hauser Syndrome with situs inversus totalis: coincidence or co-existence?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ozkurt H,
Cenker MM,
Keskiner F,
Basak M</span><br />
<span class="medgenPMjournal">J Pediatr Adolesc Gynecol</span>
2009 Aug;22(4):e57-60.
Epub 2009 Jun 2
doi: 10.1016/j.jpag.2008.04.007.
<span class="bold">PMID: </span><a href="/pubmed/19493518" target="_blank">19493518</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abdominal%20situs%20inversus%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38909657">Thoracic duct drainage patterns in heterotaxy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Castellanos DA,
Bucholz EM,
Bai K,
Esch JJ,
Hoganson D,
Sanders SP,
Shaikh R,
Ghelani SJ,
Schidlow DN</span><br />
<span class="medgenPMjournal">J Cardiovasc Magn Reson</span>
2024 Winter;26(2):101050.
Epub 2024 Jun 21
doi: 10.1016/j.jocmr.2024.101050.
<span class="bold">PMID: </span><a href="/pubmed/38909657" target="_blank">38909657</a><a href="/pmc/articles/PMC11283042" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25917470">Clinics in diagnostic imaging (160). Levocardia with abdominal situs inversus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Abdullah NL,
Quek SC,
Seto KY,
Teo LL</span><br />
<span class="medgenPMjournal">Singapore Med J</span>
2015 Apr;56(4):198-201; quiz 202.
doi: 10.11622/smedj.2015059.
<span class="bold">PMID: </span><a href="/pubmed/25917470" target="_blank">25917470</a><a href="/pmc/articles/PMC4415098" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11471162">Evidence for the "midline" hypothesis in associated defects of laterality formation and multiple midline anomalies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gilbert-Barness E,
Debich-Spicer D,
Cohen MM Jr,
Opitz JM</span><br />
<span class="medgenPMjournal">Am J Med Genet</span>
2001 Jul 15;101(4):382-7.
<span class="bold">PMID: </span><a href="/pubmed/11471162" target="_blank">11471162</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7609017">Azygous continuation of the interrupted inferior vena cava: a clue to prenatal diagnosis of the cardiosplenic syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sheley RC,
Nyberg DA,
Kapur R</span><br />
<span class="medgenPMjournal">J Ultrasound Med</span>
1995 May;14(5):381-7.
doi: 10.7863/jum.1995.14.5.381.
<span class="bold">PMID: </span><a href="/pubmed/7609017" target="_blank">7609017</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1416442">Orthotopic liver transplantation with abdominal situs inversus and dextrocardia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Barone GW,
Henry ML,
Elkhammas EA,
Tesi RJ,
Ferguson RM</span><br />
<span class="medgenPMjournal">Am Surg</span>
1992 Oct;58(10):651-3.
<span class="bold">PMID: </span><a href="/pubmed/1416442" target="_blank">1416442</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abdominal%20situs%20inversus%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38909657">Thoracic duct drainage patterns in heterotaxy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Castellanos DA,
Bucholz EM,
Bai K,
Esch JJ,
Hoganson D,
Sanders SP,
Shaikh R,
Ghelani SJ,
Schidlow DN</span><br />
<span class="medgenPMjournal">J Cardiovasc Magn Reson</span>
2024 Winter;26(2):101050.
Epub 2024 Jun 21
doi: 10.1016/j.jocmr.2024.101050.
<span class="bold">PMID: </span><a href="/pubmed/38909657" target="_blank">38909657</a><a href="/pmc/articles/PMC11283042" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/451178">Isolated azygos continuation of the inferior vena cava.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hoeffel JC,
Auguste JP,
Luceri R,
Worms AM,
Pernot C</span><br />
<span class="medgenPMjournal">Radiologe</span>
1979 May;19(5):193-5.
<span class="bold">PMID: </span><a href="/pubmed/451178" target="_blank">451178</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abdominal%20situs%20inversus%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
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