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<meta name="keywords" content="C0035615, congenital abnormality, persistent right aortic arch, right aortic arch, right aortic arch (disease), right-sided aortic arch, structure of right aortic arch, 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="Aorta descends on right instead of on the left." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Right aortic arch (Concept Id: C0035615)
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<!--
UID=48474
ConceptID=C0035615
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Right aortic arch</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48474</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:">C0035615</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Right-sided aortic arch</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Right aortic arch (111321007); Persistent right aortic arch (111321007); Right aortic arch (244229003); Structure of right aortic arch (244229003)</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:0012020">HP:0012020</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0020417" target="_blank">MONDO:0020417</a></td></tr>
<tr><td>Orphanet:</td>
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&amp;Expert=99081">ORPHA99081</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>
<div class="portlet mgSection" id="ID_100">
<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">Aorta descends on right instead of on the left. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<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><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Right aortic arch</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/927608" ref="tree=MeSH" title="MedGen record for Abnormal vascular morphology">Abnormal vascular morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1778737" ref="tree=MeSH" title="MedGen record for Abnormal blood vessel morphology">Abnormal blood vessel morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1375454" ref="tree=MeSH" title="MedGen record for Abnormal morphology of the great vessels">Abnormal morphology of the great vessels</a></span><ul><li><span class="TLline"><a href="/medgen/871269" ref="tree=MeSH" title="MedGen record for Abnormal aortic morphology">Abnormal aortic morphology</a></span><ul><li><span class="TLline"><a href="/medgen/507002" ref="tree=MeSH" title="MedGen record for Abnormal aortic arch morphology">Abnormal aortic arch morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868871" ref="tree=MeSH" title="MedGen record for Abnormal branching pattern of the aortic arch">Abnormal branching pattern of the aortic arch</a></span><ul><li><span class="matched_ds">Right aortic arch</span><ul><li><span class="TLline"><a href="/medgen/868865" ref="tree=MeSH" title="MedGen record for Right aortic arch with left descending aorta and left ductus arteriosus">Right aortic arch with left descending aorta and left ductus arteriosus</a></span></li><li><span class="TLline"><a href="/medgen/871216" ref="tree=MeSH" title="MedGen record for Right aortic arch with mirror image branching">Right aortic arch with mirror image branching</a></span></li><li><span class="TLline"><a href="/medgen/868868" ref="tree=MeSH" title="MedGen record for Right aortic arch with retroesophageal diverticulum of Kommerell">Right aortic arch with retroesophageal diverticulum of Kommerell</a></span></li><li><span class="TLline"><a href="/medgen/866789" ref="tree=MeSH" title="MedGen record for Right aortic arch with retroesophageal left subclavian artery">Right aortic arch with retroesophageal left subclavian artery</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&amp;data_id=156&amp;PatId=14098&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Right aortic arch</span> in Orphanet.</div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_75567"><div><strong>CHARGE syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75567</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.">C0265354</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. Life expectancy highly depends on the severity of manifestations; mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Despite these complications, the life expectancy for many individuals can be normal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/75567">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_99171"><div><strong>Cavernous hemangiomas of face-supraumbilical midline raphe syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99171</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.">C0472694</a></dd><dt><span class="dotprefix"></span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/99171">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_373234"><div><strong>Meacham syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373234</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.">C1837026</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">WT1 disorder is characterized by congenital/infantile or childhood onset of steroid-resistant nephrotic syndrome (SRNS), a progressive glomerulopathy that does not respond to standard steroid therapy. Additional common findings can include disorders of testicular development (with or without abnormalities of the external genitalia and/or müllerian structures) and Wilms tumor. Less common findings are congenital anomalies of the kidney and urinary tract (CAKUT) and gonadoblastoma. While various combinations of renal and other findings associated with a WT1 pathogenic variant were designated as certain syndromes in the past, those designations are now recognized to be part of a phenotypic continuum and are no longer clinically helpful.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/373234">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341558"><div><strong>Genito-palato-cardiac syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341558</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.">C1856466</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341558">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462407"><div><strong>Heterotaxy, visceral, 4, autosomal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462407</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.">C3151057</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</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 the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462407">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462571"><div><strong>Congenital heart defects, multiple types, 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462571</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.">C3151221</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Multiple types of congenital heart defects are associated with mutation in the GDF1 gene, including tetralogy of fallot (TOF), transposition of the great arteries (TGA), double-outlet right ventricle (DORV), total anomalous pulmonary venous return (TAPVR), pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect (VSD), and hypoplastic left or right ventricle (Jin et al., 2017).&#13; For a discussion of genetic heterogeneity of multiple types of congenital heart defects, see 306955.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462571">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_463207"><div><strong>Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463207</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.">C3151857</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">This multisystem disorder is characterized by moyamoya disease, short stature, hypergonadotropic hypogonadism, and facial dysmorphism. Other variable features include dilated cardiomyopathy, premature graying of the hair, and early-onset cataracts. Moyamoya disease is a progressive cerebrovascular disorder characterized by stenosis or occlusion of the internal carotid arteries and the main branches, leading to the development of small collateral vessels (moyamoya vessels) at the base of the brain. Affected individuals can develop acute neurologic events due to stroke-like episodes (summary by Miskinyte et al., 2011).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/463207">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_501171"><div><strong>Craniofacial microsomia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501171</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.">C3495417</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures. Most people with craniofacial microsomia have differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry). In about two-thirds of cases, both sides of the face have abnormalities, which usually differ from one side to the other. Other individuals with craniofacial microsomia are affected on only one side of the face. The facial characteristics in craniofacial microsomia typically include underdevelopment of one side of the upper or lower jaw (maxillary or mandibular hypoplasia), which can cause dental problems and difficulties with feeding and speech. In cases of severe mandibular hypoplasia, breathing may also be affected.\n\nPeople with craniofacial microsomia usually have ear abnormalities affecting one or both ears, typically to different degrees. They may have growths of skin (skin tags) in front of the ear (preauricular tags), an underdeveloped or absent external ear (microtia or anotia), or a closed or absent ear canal; these abnormalities may lead to hearing loss. Eye problems are less common in craniofacial microsomia, but some affected individuals have an unusually small eyeball (microphthalmia) or other eye abnormalities that result in vision loss.\n\nAbnormalities in other parts of the body, such as malformed bones of the spine (vertebrae), abnormally shaped kidneys, and heart defects, may also occur in people with craniofacial microsomia.\n\nMany other terms have been used for craniofacial microsomia. These other names generally refer to forms of craniofacial microsomia with specific combinations of signs and symptoms, although sometimes they are used interchangeably. Hemifacial microsomia often refers to craniofacial microsomia with maxillary or mandibular hypoplasia. People with hemifacial microsomia and noncancerous (benign) growths in the eye called epibulbar dermoids may be said to have Goldenhar syndrome or oculoauricular dysplasia.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/501171">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_902629"><div><strong>Heterotaxy, visceral, 7, autosomal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902629</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.">C4225217</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Visceral heterotaxy-7 (HTX7) is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. The phenotype is variable (summary by Guimier et al., 2015).&#13; For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/902629">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_1387412"><div><strong>Structural heart defects and renal anomalies syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1387412</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.">C4479549</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/1387412">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1615746"><div><strong>Ciliary dyskinesia, primary, 37</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1615746</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.">C4539798</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/1615746">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1627555"><div><strong>Skraban-Deardorff syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1627555</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.">C4539927</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">WDR26-related intellectual disability (ID) is characterized by developmental delay / intellectual disability, characteristic facial features, hypotonia, epilepsy, and infant feeding difficulties. To date 15 individuals, ages 24 months to 34 years, have been reported. Developmental delay is present in all individuals and ranges from mild to severe. All individuals have delayed speech. Although some begin to develop speech in the second year, others have remained nonverbal. Seizures, present in all affected individuals reported to date, can be febrile or non-febrile (tonic-clonic, absence, rolandic seizures); most seizures are self limited or respond well to standard treatment. Affected individuals are generally described as happy and socially engaging; several have stereotypies / autistic features (repetitive or rocking behavior, abnormal hand movements or posturing, and at times self-stimulation).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1627555">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648365"><div><strong>Ciliary dyskinesia, primary, 40</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648365</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.">C4749028</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-40 (CILD40) is an autosomal recessive disorder with a relatively mild respiratory phenotype compared to other CILDs. Patients present in childhood with mild upper respiratory symptoms and infections, but typically do not develop serious lung disease. Nitric oxide levels are low-normal or normal. All reported patients have had situs inversus, including several with severe congenital cardiac malformations, but left-right body asymmetry is still theoretically random and would occur in 50% of patients (summary by Loges et al., 2018).&#13; For a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 (244400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648365">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1714491"><div><strong>Congenital heart defects, multiple types, 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1714491</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.">C5394062</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Multiple types of congenital heart defects-7 (CHTD7) is an autosomal dominant disorder with incomplete penetrance characterized mainly by tetralogy of Fallot but also including right-sided aortic arch, absent pulmonary valve, and other cardiac abnormalities (Jin et al., 2017, Reuter et al., 2019).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1714491">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794200"><div><strong>Biliary, renal, neurologic, and skeletal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794200</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.">C5561990</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Biliary, renal, neurologic, and skeletal syndrome (BRENS) is an autosomal recessive complex ciliopathy with multisystemic manifestations. The most common presentation is severe neonatal cholestasis that progresses to liver fibrosis and cirrhosis. Most patients have additional clinical features suggestive of a ciliopathy, including postaxial polydactyly, hydrocephalus, retinal abnormalities, and situs inversus. Additional features of the syndrome may include congenital cardiac defects, echogenic kidneys with renal failure, ocular abnormalities, joint hyperextensibility, and dysmorphic facial features. Some patients have global developmental delay. Brain imaging typically shows dilated ventricles, hypomyelination, and white matter abnormalities, although some patients have been described with abnormal pituitary development (summary by Shaheen et al., 2020 and David et al., 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794200">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1798903"><div><strong>Hypotonia, infantile, with psychomotor retardation and characteristic facies 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1798903</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.">C5567480</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Infantile hypotonia with psychomotor retardation and characteristic facies-3 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Most affected individuals show very poor, if any, normal psychomotor development, poor speech, and inability to walk independently (summary by Bhoj et al., 2016).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (615419).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1798903">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1803695"><div><strong>Heterotaxy, visceral, 12, autosomal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1803695</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.">C5676898</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Visceral heterotaxy-12 (HTX12) is an embryonic developmental disorder characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects. The phenotype is highly variable, ranging from complete organ reversal (situs inversus totalis) to selective misarrangement of organs (situs ambiguus) such as the liver, spleen, and pancreas. The disorder is often associated with dextrocardia or variable complex congenital heart defects. Early death may occur in the most severe cases (summary by Szenker-Ravi et al., 2022).&#13; For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1803695">Condition Record</a></div></div>
<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)&#10;Click for more information.">C5829589</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<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>
<div class="spaceAbove nowrap">See: <a href="/medgen/1840225">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_1794200" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Biliary, renal, neurologic, and skeletal syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_99171" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cavernous hemangiomas of face-supraumbilical midline raphe syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75567" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CHARGE syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1615746" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ciliary dyskinesia, primary, 37</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648365" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ciliary dyskinesia, primary, 40</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (21)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<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_462571" 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, 6</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1714491" 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, 7</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501171" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniofacial microsomia 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341558" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Genito-palato-cardiac syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1803695" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 12, autosomal</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462407" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 4, 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_902629" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 7, 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_1798903" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia, infantile, with psychomotor retardation and characteristic facies 3</a></div>
<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>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meacham syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463207" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1627555" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Skraban-Deardorff syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1387412" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Structural heart defects and renal anomalies 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/35024831">Vascular ring surgery: future trends and challenges in diagnosis and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Biermann D,
Hazekamp MG</span><br />
<span class="medgenPMjournal">Eur J Cardiothorac Surg</span>
2022 May 27;61(6):1269-1270.
doi: 10.1093/ejcts/ezac007.
<span class="bold">PMID: </span><a href="/pubmed/35024831" target="_blank">35024831</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31044303">Response: "Another merit of fetal MRI in prenatal diagnosis of right aortic arch".</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yerlikaya G</span><br />
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
2019 Jul;300(1):237.
Epub 2019 May 1
doi: 10.1007/s00404-019-05166-0.
<span class="bold">PMID: </span><a href="/pubmed/31044303" target="_blank">31044303</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31044299">Another merit of fetal MRI in prenatal diagnosis of right aortic arch.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Matsubara D,
Takahashi H,
Matsubara S</span><br />
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
2019 Jul;300(1):235-236.
Epub 2019 May 1
doi: 10.1007/s00404-019-05169-x.
<span class="bold">PMID: </span><a href="/pubmed/31044299" target="_blank">31044299</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22right%20aortic%20arch%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 (41)</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/34981204">Prenatal diagnosis and postnatal outcomes of right aortic arch anomalies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Topbas Selcuki NF,
Senol G,
Esin D,
Ozkose ZG,
Caypinar SS,
Bornaun H,
Cetin BA,
Yuksel MA</span><br />
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
2022 Sep;306(3):745-752.
Epub 2022 Jan 4
doi: 10.1007/s00404-021-06346-7.
<span class="bold">PMID: </span><a href="/pubmed/34981204" target="_blank">34981204</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33864758">Neonates With Right Aortic Arch Requiring Arch Reconstruction: A Single-Institution Experience.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Holland M,
Schulz A,
Feins E,
Baird CW</span><br />
<span class="medgenPMjournal">Ann Thorac Surg</span>
2022 Jun;113(6):2054-2060.
Epub 2021 Apr 20
doi: 10.1016/j.athoracsur.2021.04.005.
<span class="bold">PMID: </span><a href="/pubmed/33864758" target="_blank">33864758</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30706183">Prenatal detection of right aortic arch.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yerlikaya G,
Efetürk T,
Springer S,
Reischer T</span><br />
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
2019 Apr;299(4):933-938.
Epub 2019 Jan 31
doi: 10.1007/s00404-019-05056-5.
<span class="bold">PMID: </span><a href="/pubmed/30706183" target="_blank">30706183</a><a href="/pmc/articles/PMC6435603" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26643657">Fetuses with right aortic arch: a multicenter cohort study and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">D'Antonio F,
Khalil A,
Zidere V,
Carvalho JS</span><br />
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
2016 Apr;47(4):423-32.
Epub 2016 Mar 16
doi: 10.1002/uog.15805.
<span class="bold">PMID: </span><a href="/pubmed/26643657" target="_blank">26643657</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4812368">The significance of right aortic arch in D-transposition of the great arteries.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mathew R,
Rosenthal A,
Fellows K</span><br />
<span class="medgenPMjournal">Am Heart J</span>
1974 Mar;87(3):314-7.
doi: 10.1016/0002-8703(74)90071-4.
<span class="bold">PMID: </span><a href="/pubmed/4812368" target="_blank">4812368</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Right%20aortic%20arch%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 (248)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/34930596">Vascular rings.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Worhunsky DJ,
Levy BE,
Stephens EH,
Backer CL</span><br />
<span class="medgenPMjournal">Semin Pediatr Surg</span>
2021 Dec;30(6):151128.
Epub 2021 Oct 23
doi: 10.1016/j.sempedsurg.2021.151128.
<span class="bold">PMID: </span><a href="/pubmed/34930596" target="_blank">34930596</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27860551">Congenital Variants and Anomalies of the Aortic Arch.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hanneman K,
Newman B,
Chan F</span><br />
<span class="medgenPMjournal">Radiographics</span>
2017 Jan-Feb;37(1):32-51.
Epub 2016 Nov 18
doi: 10.1148/rg.2017160033.
<span class="bold">PMID: </span><a href="/pubmed/27860551" target="_blank">27860551</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27301603">Vascular rings.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Backer CL,
Mongé MC,
Popescu AR,
Eltayeb OM,
Rastatter JC,
Rigsby CK</span><br />
<span class="medgenPMjournal">Semin Pediatr Surg</span>
2016 Jun;25(3):165-75.
Epub 2016 Feb 22
doi: 10.1053/j.sempedsurg.2016.02.009.
<span class="bold">PMID: </span><a href="/pubmed/27301603" target="_blank">27301603</a></div>
<div class="nl"><a target="_blank" href="/pubmed/5001821">Right aortic arch.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baron MG</span><br />
<span class="medgenPMjournal">Circulation</span>
1971 Dec;44(6):1137-45.
doi: 10.1161/01.cir.44.6.1137.
<span class="bold">PMID: </span><a href="/pubmed/5001821" target="_blank">5001821</a></div>
<div class="nl"><a target="_blank" href="/pubmed/5944202">Right aortic arch: plain film diagnosis and significance.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stewart JR,
Kincaid OW,
Titus JL</span><br />
<span class="medgenPMjournal">Am J Roentgenol Radium Ther Nucl Med</span>
1966 Jun;97(2):377-89.
doi: 10.2214/ajr.97.2.377.
<span class="bold">PMID: </span><a href="/pubmed/5944202" target="_blank">5944202</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Right%20aortic%20arch%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 (476)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/38379198">Perioperative and Anesthetic Considerations in Vascular Rings and Slings.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wadle M,
Joffe D,
Backer C,
Ross F</span><br />
<span class="medgenPMjournal">Semin Cardiothorac Vasc Anesth</span>
2024 Sep;28(3):152-164.
Epub 2024 Feb 20
doi: 10.1177/10892532241234404.
<span class="bold">PMID: </span><a href="/pubmed/38379198" target="_blank">38379198</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36967253">Post-operative Outcomes for Vascular Rings: A Systematic Review and Meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rato J,
Zidere V,
François K,
Boon M,
Depypere A,
Simpson JM,
Speggiorin S,
Vigneswaran TV</span><br />
<span class="medgenPMjournal">J Pediatr Surg</span>
2023 Sep;58(9):1744-1753.
Epub 2023 Feb 28
doi: 10.1016/j.jpedsurg.2023.02.058.
<span class="bold">PMID: </span><a href="/pubmed/36967253" target="_blank">36967253</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36543453">Subclavian Artery Access for Transcatheter Aortic Valve Replacement in a Right Aortic Arch.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hohri Y,
Zen K,
Kawajiri H,
Matoba S,
Yaku H</span><br />
<span class="medgenPMjournal">JACC Cardiovasc Interv</span>
2022 Dec 26;15(24):2573-2574.
Epub 2022 Nov 30
doi: 10.1016/j.jcin.2022.08.028.
<span class="bold">PMID: </span><a href="/pubmed/36543453" target="_blank">36543453</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30585070">Non-Recurrent Laryngeal Nerve and Concurrent Vascular Variants: A Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bakalinis E,
Makris I,
Demesticha T,
Tsakotos G,
Skandalakis P,
Filippou D</span><br />
<span class="medgenPMjournal">Acta Med Acad</span>
2018 Nov;47(2):186-192.
doi: 10.5644/ama2006-124.230.
<span class="bold">PMID: </span><a href="/pubmed/30585070" target="_blank">30585070</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3357730">Multiple cutaneous hemangiomas and coarctation of the aorta with right aortic arch.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vaillant L,
Lorette G,
Chantepie A,
Marchand M,
Alison D,
Vaillant MC,
Laugier J</span><br />
<span class="medgenPMjournal">Pediatrics</span>
1988 May;81(5):707-10.
<span class="bold">PMID: </span><a href="/pubmed/3357730" target="_blank">3357730</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Right%20aortic%20arch%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 (40)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37406764">The aortic uncrossing procedure.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Backer CL,
Mongé MC,
Wallen WJ,
Eltayeb O</span><br />
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
2024 Feb;167(2):413-419.
Epub 2023 Jul 3
doi: 10.1016/j.jtcvs.2023.06.013.
<span class="bold">PMID: </span><a href="/pubmed/37406764" target="_blank">37406764</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34363577">The arterial duct and the right aortic arch: telescope into the prenatal defective heart.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ker J</span><br />
<span class="medgenPMjournal">Int J Cardiovasc Imaging</span>
2021 Dec;37(12):3397.
Epub 2021 Aug 7
doi: 10.1007/s10554-021-02352-7.
<span class="bold">PMID: </span><a href="/pubmed/34363577" target="_blank">34363577</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33109287">Anatomic classification of the right aortic arch.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Prabhu S,
Mehra S,
Kasturi S,
Tiwari R,
Joshi A,
John C,
Karl TR</span><br />
<span class="medgenPMjournal">Cardiol Young</span>
2020 Nov;30(11):1694-1701.
Epub 2020 Oct 28
doi: 10.1017/S1047951120003601.
<span class="bold">PMID: </span><a href="/pubmed/33109287" target="_blank">33109287</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31221230">Isolated retroaortic innominate vein and right aortic arch: a case report and review of literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kohli U</span><br />
<span class="medgenPMjournal">Cardiol Young</span>
2019 Aug;29(8):1091-1093.
Epub 2019 Jun 21
doi: 10.1017/S1047951119001380.
<span class="bold">PMID: </span><a href="/pubmed/31221230" target="_blank">31221230</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27860551">Congenital Variants and Anomalies of the Aortic Arch.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hanneman K,
Newman B,
Chan F</span><br />
<span class="medgenPMjournal">Radiographics</span>
2017 Jan-Feb;37(1):32-51.
Epub 2016 Nov 18
doi: 10.1148/rg.2017160033.
<span class="bold">PMID: </span><a href="/pubmed/27860551" target="_blank">27860551</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Right%20aortic%20arch%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 (174)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/35060138">Fetal echocardiographic markers to differentiate between a right and double aortic arch.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Van Poppel MPM,
Zidere V,
Simpson JM,
Vigneswaran TV</span><br />
<span class="medgenPMjournal">Prenat Diagn</span>
2022 Apr;42(4):419-427.
Epub 2022 Jan 28
doi: 10.1002/pd.6104.
<span class="bold">PMID: </span><a href="/pubmed/35060138" target="_blank">35060138</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34363577">The arterial duct and the right aortic arch: telescope into the prenatal defective heart.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ker J</span><br />
<span class="medgenPMjournal">Int J Cardiovasc Imaging</span>
2021 Dec;37(12):3397.
Epub 2021 Aug 7
doi: 10.1007/s10554-021-02352-7.
<span class="bold">PMID: </span><a href="/pubmed/34363577" target="_blank">34363577</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30729837">Fetal Right Aortic Arch: A Quantitative Method of Outcome Prediction.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang MX,
Zhao BW,
Pan M,
Wang B,
Peng XH,
Chen R</span><br />
<span class="medgenPMjournal">Fetal Pediatr Pathol</span>
2019 Jun;38(3):195-205.
Epub 2019 Feb 7
doi: 10.1080/15513815.2019.1567634.
<span class="bold">PMID: </span><a href="/pubmed/30729837" target="_blank">30729837</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30706183">Prenatal detection of right aortic arch.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yerlikaya G,
Efetürk T,
Springer S,
Reischer T</span><br />
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
2019 Apr;299(4):933-938.
Epub 2019 Jan 31
doi: 10.1007/s00404-019-05056-5.
<span class="bold">PMID: </span><a href="/pubmed/30706183" target="_blank">30706183</a><a href="/pmc/articles/PMC6435603" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30623879">Congenital abnormalities of the aortic arch: revisiting the 1964 Stewart classification.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Li S,
Wen H,
Liang M,
Luo D,
Qin Y,
Liao Y,
Ouyang S,
Bi J,
Tian X,
Norwitz ER,
Luo G</span><br />
<span class="medgenPMjournal">Cardiovasc Pathol</span>
2019 Mar-Apr;39:38-50.
Epub 2018 Dec 6
doi: 10.1016/j.carpath.2018.11.004.
<span class="bold">PMID: </span><a href="/pubmed/30623879" target="_blank">30623879</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Right%20aortic%20arch%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 (94)</a></div></div>
</div>
<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/36967253">Post-operative Outcomes for Vascular Rings: A Systematic Review and Meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rato J,
Zidere V,
François K,
Boon M,
Depypere A,
Simpson JM,
Speggiorin S,
Vigneswaran TV</span><br />
<span class="medgenPMjournal">J Pediatr Surg</span>
2023 Sep;58(9):1744-1753.
Epub 2023 Feb 28
doi: 10.1016/j.jpedsurg.2023.02.058.
<span class="bold">PMID: </span><a href="/pubmed/36967253" target="_blank">36967253</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30318282">Right or left thoracotomy for esophageal atresia and right aortic arch? Systematic review and surgicoanatomic justification.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mentessidou A,
Avgerinos I,
Avgerinos N,
Skandalakis PN,
Mirilas P</span><br />
<span class="medgenPMjournal">J Pediatr Surg</span>
2018 Nov;53(11):2128-2135.
Epub 2018 Jun 19
doi: 10.1016/j.jpedsurg.2018.06.015.
<span class="bold">PMID: </span><a href="/pubmed/30318282" target="_blank">30318282</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27001673">A review of the surgical management of right-sided aortic arch aneurysms.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Barr JG,
Sepehripour AH,
Jarral OA,
Tsipas P,
Kokotsakis J,
Kourliouros A,
Athanasiou T</span><br />
<span class="medgenPMjournal">Interact Cardiovasc Thorac Surg</span>
2016 Jul;23(1):156-62.
Epub 2016 Mar 21
doi: 10.1093/icvts/ivw058.
<span class="bold">PMID: </span><a href="/pubmed/27001673" target="_blank">27001673</a><a href="/pmc/articles/PMC4986736" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26643657">Fetuses with right aortic arch: a multicenter cohort study and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">D'Antonio F,
Khalil A,
Zidere V,
Carvalho JS</span><br />
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
2016 Apr;47(4):423-32.
Epub 2016 Mar 16
doi: 10.1002/uog.15805.
<span class="bold">PMID: </span><a href="/pubmed/26643657" target="_blank">26643657</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26592954">The management of newborns with esophageal atresia and right aortic arch: A systematic review or still unsolved problem.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Parolini F,
Armellini A,
Boroni G,
Bagolan P,
Alberti D</span><br />
<span class="medgenPMjournal">J Pediatr Surg</span>
2016 Feb;51(2):304-9.
Epub 2015 Oct 19
doi: 10.1016/j.jpedsurg.2015.10.043.
<span class="bold">PMID: </span><a href="/pubmed/26592954" target="_blank">26592954</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Right%20aortic%20arch%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (6)</a></div></div>
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