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<meta name="keywords" content="C0040588, abnormal connection between trachea and esophagus, abnormal connection between trachea and oesophagus, anatomical abnormality, esophageal atresia, esophageal atresia and/or tracheoesophageal fistula, esophageal atresia with or without tracheoesophageal fistula, esophageal atresia/tracheoesophageal fistula, esophagotracheal fistula, esophagotracheal fistulas, fistula, esophagotracheal, fistula, tracheoesophageal, fistulas, esophagotracheal, fistulas, tracheoesophageal, te fistula, tef, tof - tracheoesophageal fistula, tracheo-esophageal fistula, tracheoesophageal fistula, tracheoesophageal fistula with or without esohageal atresia, tracheoesophageal fistula with or without esophageal atresia, tracheoesophageal fistulas, 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="An abnormal connection (fistula) between the esophagus and the trachea." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=21228
|
||
ConceptID=C0040588
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Tracheoesophageal fistula</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21228</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0040588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Esophageal atresia with or without tracheoesophageal fistula; Esophageal Atresia/Tracheoesophageal Fistula</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>TOF - Tracheoesophageal fistula (95435007); Tracheoesophageal fistula (95435007)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></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:0002575">HP:0002575</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008586" target="_blank">MONDO:0008586</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/189960" target="_blank">189960</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&Expert=1199">ORPHA1199</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">An abnormal connection (fistula) between the esophagus and the trachea. [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_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_4545"><div><strong>Esophageal atresia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4545</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0014850</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4545">Feature record</a> | <a href="/medgen?term=%22Esophageal%20atresia%22%5BClinical%20Features%5D%20OR%204545%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21228"><div><strong>Tracheoesophageal fistula</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21228</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0040588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal connection (fistula) between the esophagus and the trachea.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21228">Feature record</a> | <a href="/medgen?term=%22Tracheoesophageal%20fistula%22%5BClinical%20Features%5D%20OR%2021228%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4545" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Esophageal atresia</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21228" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tracheoesophageal fistula</a></span></li></ul></li></ul></div></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></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=C0040588[DISCUI]&test_type=Clinical" ref="ncbi_uid=21228">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&from_uid=21228" ref="ncbi_uid=21228">V</a></span></span><span class="TLline">Tracheoesophageal fistula</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/866322" ref="tree=MeSH" title="MedGen record for Abnormality of the respiratory system">Abnormality of the respiratory system</a></span><ul><li><span class="TLline"><a href="/medgen/220360" ref="tree=MeSH" title="MedGen record for Abnormal respiratory system physiology">Abnormal respiratory system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868593" ref="tree=MeSH" title="MedGen record for Abnormal respiratory system morphology">Abnormal respiratory system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867271" ref="tree=MeSH" title="MedGen record for Abnormal tracheobronchial morphology">Abnormal tracheobronchial morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892789" ref="tree=MeSH" title="MedGen record for Abnormal tracheal morphology">Abnormal tracheal morphology</a></span><ul><li><span class="matched_ds">Tracheoesophageal fistula</span><ul><li><span class="TLline"><a href="/medgen/472997" ref="tree=MeSH" title="MedGen record for H-type congenital tracheoesophageal fistula">H-type congenital tracheoesophageal fistula</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_21228"><div><strong>Tracheoesophageal fistula</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21228</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0040588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal connection (fistula) between the esophagus and the trachea.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21228">Condition Record</a></div></div>
|
||
<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) 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_713858"><div><strong>Phosphoribosylaminoimidazole carboxylase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>713858</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1291561</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Phosphoribosylaminoimidazole carboxylase deficiency (PAICSD) is an autosomal recessive disorder characterized by multiple congenital anomalies and early neonatal death (Pelet et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/713858">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_318628"><div><strong>Martinez-Frias syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318628</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1832443</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Martinez-Frias syndrome is characterized by pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula. There is considerable phenotypic overlap between Martinez-Frias syndrome and Mitchell-Riley syndrome (MTCHRS; 615710), the latter being characterized by neonatal diabetes in addition to the features of the Martinez-Frias syndrome, but without tracheoesophageal fistula (Smith et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318628">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336901"><div><strong>Fanconi anemia complementation group B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336901</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1845292</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336901">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336373"><div><strong>Methylmalonic aciduria and homocystinuria type cblF</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336373</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1848578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336373">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419019"><div><strong>VACTERL association, X-linked, with or without hydrocephalus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419019</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2931228</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb; see 192350). Some patients may have hydrocephalus, which is referred to as VACTERL-H (Briard et al., 1984).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419019">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_755478"><div><strong>Alveolar capillary dysplasia with pulmonary venous misalignment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>755478</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2960310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity (Boggs et al., 1994). Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period (Vassal et al., 1998). Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs (Sen et al., 2004).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/755478">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_463627"><div><strong>Fanconi anemia complementation group D2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463627</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3160738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/463627">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854018"><div><strong>Fanconi anemia complementation group L</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854018</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3469528</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854018">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_902479"><div><strong>VATER association</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902479</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225671</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">VATER is a mnemonically useful acronym for the nonrandom association of vertebral defects (V), anal atresia (A), tracheoesophageal fistula with esophageal atresia (TE), and radial or renal dysplasia (R). This combination of associated defects was pointed out by Quan and Smith (1972). Nearly all cases have been sporadic. VACTERL is an acronym for an expanded definition of the association that includes cardiac malformations (C) and limb anomalies (L). The VACTERL association is a spectrum of various combinations of its 6 components, which can be a manifestation of several recognized disorders rather than a distinct anatomic or etiologic entity (Khoury et al., 1983). Also see VATER/VACTERL association with hydrocephalus (VACTERL-H; 276950) and VACTERL with or without hydrocephalus (VACTERLX; 314390).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/902479">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_930741"><div><strong>X-linked intellectual disability, van Esch type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>930741</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4305072</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Van Esch-O'Driscoll syndrome (VEODS) is characterized by varying degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations (Van Esch et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/930741">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1635275"><div><strong>Townes-Brocks syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1635275</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551481</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SALL1-related Townes-Brocks syndrome (SALL1-TBS) is characterized by the triad of imperforate anus or anal stenosis, dysplastic ears (overfolded superior helices and preauricular tags; frequently associated with sensorineural and/or conductive hearing impairment), and thumb malformations (duplication of the thumb [preaxial polydactyly], triphalangeal thumbs, and, rarely, hypoplasia of the thumbs) without hypoplasia of the radius. Impaired kidney function, including end-stage kidney disease (ESKD), may occur with or without structural abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, polycystic kidneys, vesicoureteral reflux). Foot malformations (flat feet, overlapping toes) and genitourinary malformations are common. Congenital heart disease occurs in 15% of affected individuals. Developmental delay and/or learning difficulties occur in approximately 15% of affected individuals. Rare features include growth deficiency, Duane anomaly, iris coloboma, and Chiari I malformation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1635275">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1637716"><div><strong>Feingold syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1637716</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551774</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Feingold syndrome 1 (referred to as FS1 in this GeneReview) is characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresias (primarily esophageal and/or duodenal), and mild-to-moderate learning disability.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1637716">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1725056"><div><strong>Delpire-McNeill syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1725056</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5436771</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Delpire-McNeill syndrome (DELMNES) is a neurodevelopmental disorder with highly variable manifestations. Patients present in infancy with global developmental delay, including motor, speech, and impaired intellectual development. The most severely affected patients have hypotonia, inability to hold their head or walk, bilateral sensorineural deafness, and absent language, whereas others have delayed walking and mild to moderate intellectual disability, often with speech delay and autistic features. More variable features may include spasticity or minor involvement of other organ systems, such as hip dislocation or ventricular septal defect (summary by McNeill et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1725056">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1788069"><div><strong>Vertebral, cardiac, tracheoesophageal, renal, and limb defects</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1788069</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5543189</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">VCTERL syndrome is characterized by anomalies of the vertebrae, heart, trachea, esophagus, kidneys, and limbs. Some patients also exhibit craniofacial abnormalities. Incomplete penetrance and markedly variable disease expression have been observed, including intrafamilial variability (Martin et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1788069">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1804308"><div><strong>ACCES syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1804308</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5677019</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Aplasia cutis congenita and ectrodactyly skeletal syndrome (ACCES) is characterized by highly variable expressivity, even within the same family. Most patients exhibit scalp defects, whereas ectrodactyly is less common; however, more variable and less obvious digital and skeletal anomalies are often present. Early growth deficiency and neurodevelopmental delay are also commonly seen (Schnur et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1804308">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1845438"><div><strong>Fliedner-Zweier syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1845438</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5882693</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fliedner-Zweier syndrome (FZS) is a neurodevelopmental disorder characterized by variable manifestations including mild intellectual disability, seizures, behavioral abnormalities, and various skeletal and structural anomalies (Fliedner et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1845438">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1855399"><div><strong>Seckel syndrome 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1855399</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5935595</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Seckel syndrome-11 (SCKL11) is characterized by severe primary microcephaly, short stature, developmental delay, impaired intellectual development, facial dysmorphisms, and digital abnormalities (Li et al., 2024). For a general phenotypic description and discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1855399">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1804308" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ACCES syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_755478" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alveolar capillary dysplasia with pulmonary venous misalignment</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_1725056" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delpire-McNeill syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336901" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group B</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (19)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463627" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group D2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854018" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group L</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1637716" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feingold syndrome type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1845438" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fliedner-Zweier syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318628" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Martinez-Frias syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methylmalonic aciduria and homocystinuria type cblF</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_713858" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Phosphoribosylaminoimidazole carboxylase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1855399" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seckel syndrome 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1635275" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Townes-Brocks syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_21228" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tracheoesophageal fistula</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">VACTERL association, X-linked, with or without hydrocephalus</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902479" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">VATER association</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1788069" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertebral, cardiac, tracheoesophageal, renal, and limb defects</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_930741" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked intellectual disability, van Esch type</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/34086381">Successful conservative management of an acquired tracheoesophageal fistula.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harada A,
|
||
Shimojima N,
|
||
Tomita H,
|
||
Shimotakahara A,
|
||
Hirobe S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2021 Aug;63(8):980-981.
|
||
Epub 2021 Jun 4
|
||
doi: 10.1111/ped.14534.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34086381" target="_blank">34086381</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31266084">ERNICA Consensus Conference on the Management of Patients with Esophageal Atresia and Tracheoesophageal Fistula: Diagnostics, Preoperative, Operative, and Postoperative Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dingemann C,
|
||
Eaton S,
|
||
Aksnes G,
|
||
Bagolan P,
|
||
Cross KM,
|
||
De Coppi P,
|
||
Fruithof J,
|
||
Gamba P,
|
||
Husby S,
|
||
Koivusalo A,
|
||
Rasmussen L,
|
||
Sfeir R,
|
||
Slater G,
|
||
Svensson JF,
|
||
Van der Zee DC,
|
||
Wessel LM,
|
||
Widenmann-Grolig A,
|
||
Wijnen R,
|
||
Ure BM</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr Surg</span>
|
||
2020 Aug;30(4):326-336.
|
||
Epub 2019 Jul 2
|
||
doi: 10.1055/s-0039-1693116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31266084" target="_blank">31266084</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27579697">ESPGHAN-NASPGHAN Guidelines for the Evaluation and Treatment of Gastrointestinal and Nutritional Complications in Children With Esophageal Atresia-Tracheoesophageal Fistula.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krishnan U,
|
||
Mousa H,
|
||
Dall'Oglio L,
|
||
Homaira N,
|
||
Rosen R,
|
||
Faure C,
|
||
Gottrand F</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2016 Nov;63(5):550-570.
|
||
doi: 10.1097/MPG.0000000000001401.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27579697" target="_blank">27579697</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22tracheoesophageal%20fistula%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 (120)</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/39069321">Advanced Diagnostic and Therapeutic Bronchoscopy in Pediatrics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hysinger E,
|
||
Piccione J</span><br />
|
||
<span class="medgenPMjournal">Clin Chest Med</span>
|
||
2024 Sep;45(3):555-567.
|
||
doi: 10.1016/j.ccm.2024.02.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39069321" target="_blank">39069321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36209744">Esophageal Atresia and Tracheoesophageal Fistula: Overview and Considerations for the General Surgeon.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Walk RM</span><br />
|
||
<span class="medgenPMjournal">Surg Clin North Am</span>
|
||
2022 Oct;102(5):759-778.
|
||
Epub 2022 Sep 7
|
||
doi: 10.1016/j.suc.2022.07.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36209744" target="_blank">36209744</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33153989">Management of tracheo-oesophageal fistula in adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim HS,
|
||
Khemasuwan D,
|
||
Diaz-Mendoza J,
|
||
Mehta AC</span><br />
|
||
<span class="medgenPMjournal">Eur Respir Rev</span>
|
||
2020 Dec 31;29(158)
|
||
Epub 2020 Nov 5
|
||
doi: 10.1183/16000617.0094-2020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33153989" target="_blank">33153989</a><a href="/pmc/articles/PMC9488631" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26921972">Peri-operative management of neonates with oesophageal atresia and tracheo-oesophageal fistula.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hunt RW,
|
||
Perkins EJ,
|
||
King S</span><br />
|
||
<span class="medgenPMjournal">Paediatr Respir Rev</span>
|
||
2016 Jun;19:3-9.
|
||
Epub 2016 Jan 29
|
||
doi: 10.1016/j.prrv.2016.01.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26921972" target="_blank">26921972</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19702037">Tracheoesophageal fistula.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santra G,
|
||
Pandi N</span><br />
|
||
<span class="medgenPMjournal">J Assoc Physicians India</span>
|
||
2009 Apr;57:310.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19702037" target="_blank">19702037</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tracheoesophageal%20fistula%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 (1339)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36209744">Esophageal Atresia and Tracheoesophageal Fistula: Overview and Considerations for the General Surgeon.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Walk RM</span><br />
|
||
<span class="medgenPMjournal">Surg Clin North Am</span>
|
||
2022 Oct;102(5):759-778.
|
||
Epub 2022 Sep 7
|
||
doi: 10.1016/j.suc.2022.07.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36209744" target="_blank">36209744</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35617475">An overview of esophageal atresia and tracheoesophageal fistula.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McGowan NA,
|
||
Grosel J</span><br />
|
||
<span class="medgenPMjournal">JAAPA</span>
|
||
2022 Jun 1;35(6):34-37.
|
||
doi: 10.1097/01.JAA.0000830180.79745.b9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35617475" target="_blank">35617475</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33153989">Management of tracheo-oesophageal fistula in adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim HS,
|
||
Khemasuwan D,
|
||
Diaz-Mendoza J,
|
||
Mehta AC</span><br />
|
||
<span class="medgenPMjournal">Eur Respir Rev</span>
|
||
2020 Dec 31;29(158)
|
||
Epub 2020 Nov 5
|
||
doi: 10.1183/16000617.0094-2020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33153989" target="_blank">33153989</a><a href="/pmc/articles/PMC9488631" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23720208">Recurrent tracheoesophageal fistula.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lal DR,
|
||
Oldham KT</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr Surg</span>
|
||
2013 Jun;23(3):214-8.
|
||
Epub 2013 May 29
|
||
doi: 10.1055/s-0033-1347913.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23720208" target="_blank">23720208</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19702037">Tracheoesophageal fistula.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santra G,
|
||
Pandi N</span><br />
|
||
<span class="medgenPMjournal">J Assoc Physicians India</span>
|
||
2009 Apr;57:310.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19702037" target="_blank">19702037</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tracheoesophageal%20fistula%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 (1354)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35666845">Tracheoesophageal Fistula after Button Battery Ingestion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fontoura-Matias J,
|
||
Torres Rebelo A,
|
||
Espinheira MDC,
|
||
Trindade E</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2022 Sep 1;75(3):e60.
|
||
Epub 2022 Jun 6
|
||
doi: 10.1097/MPG.0000000000003505.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35666845" target="_blank">35666845</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30421254">Post-intubation tracheal laceration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nobre de Jesus G,
|
||
Freitas F,
|
||
Fernandes SM,
|
||
Alvarez A</span><br />
|
||
<span class="medgenPMjournal">Intensive Care Med</span>
|
||
2019 Apr;45(4):521-522.
|
||
Epub 2018 Nov 12
|
||
doi: 10.1007/s00134-018-5450-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30421254" target="_blank">30421254</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29534254">Perioperative Complications of Esophageal Atresia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morini F,
|
||
Conforti A,
|
||
Bagolan P</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr Surg</span>
|
||
2018 Apr;28(2):133-140.
|
||
Epub 2018 Mar 13
|
||
doi: 10.1055/s-0038-1636941.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29534254" target="_blank">29534254</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15807919">Late complications of tracheostomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Epstein SK</span><br />
|
||
<span class="medgenPMjournal">Respir Care</span>
|
||
2005 Apr;50(4):542-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15807919" target="_blank">15807919</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4909552">Esophageal atresia and tracheoesophageal fistula.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holder TM,
|
||
Ashcraft KW</span><br />
|
||
<span class="medgenPMjournal">Ann Thorac Surg</span>
|
||
1970 May;9(5):445-67.
|
||
doi: 10.1016/s0003-4975(10)65538-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4909552" target="_blank">4909552</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tracheoesophageal%20fistula%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 (892)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25783403">A cross-sectional nationwide survey on esophageal atresia and tracheoesophageal fistula.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pini Prato A,
|
||
Carlucci M,
|
||
Bagolan P,
|
||
Gamba PG,
|
||
Bernardi M,
|
||
Leva E,
|
||
Paradies G,
|
||
Manzoni C,
|
||
Noccioli B,
|
||
Tramontano A,
|
||
Jasonni V,
|
||
Vaccarella F,
|
||
De Pascale S,
|
||
Alberti D,
|
||
Riccipetitoni G,
|
||
Falchetti D,
|
||
Caccia F,
|
||
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<span class="bold">PMID: </span><a href="/pubmed/37957100" target="_blank">37957100</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32142811">Intraoperative Extracorporeal Membrane Oxygenation in Thoracic Surgery.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31266084">ERNICA Consensus Conference on the Management of Patients with Esophageal Atresia and Tracheoesophageal Fistula: Diagnostics, Preoperative, Operative, and Postoperative Management.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/31266084" target="_blank">31266084</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31470372">VACTERL Association with Situs Inversus Totalis: A Unique Combination.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Slagle CL,
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2019 Mar 1;38(2):98-106.
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<span class="bold">PMID: </span><a href="/pubmed/31470372" target="_blank">31470372</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tracheoesophageal%20fistula%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 (444)</a></div></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/37659224">Surgical closure of enlarged tracheoesophageal fistula after laryngectomy: A systematic review of techniques.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lane C,
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Wright M,
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Linton J,
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Goyal N</span><br />
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Epub 2023 Aug 19
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doi: 10.1016/j.amjoto.2023.104023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37659224" target="_blank">37659224</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33474597">Diagnostic and management strategies for congenital H-type tracheoesophageal fistula: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sampat K,
|
||
Losty PD</span><br />
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<span class="medgenPMjournal">Pediatr Surg Int</span>
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2021 May;37(5):539-547.
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Epub 2021 Jan 20
|
||
doi: 10.1007/s00383-020-04853-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33474597" target="_blank">33474597</a><a href="/pmc/articles/PMC8026411" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32179205">Diagnosis and management of complete tracheal rings with concurrent tracheoesophageal fistula.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Wolter NE,
|
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Kennedy AA,
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Rutter MJ,
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Matava C,
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Honjo O,
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Chiu PL,
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2020 Jun;133:109971.
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Epub 2020 Feb 27
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||
<span class="bold">PMID: </span><a href="/pubmed/32179205" target="_blank">32179205</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31359222">Thoracoscopy vs. thoracotomy for the repair of esophageal atresia and tracheoesophageal fistula: a systematic review and meta-analysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Way C,
|
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Wayne C,
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Grandpierre V,
|
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Harrison BJ,
|
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Travis N,
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Nasr A</span><br />
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<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2019 Nov;35(11):1167-1184.
|
||
Epub 2019 Jul 29
|
||
doi: 10.1007/s00383-019-04527-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31359222" target="_blank">31359222</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29992379">Barrett's esophagus in children: what is the evidence?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raicevic M,
|
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Saxena AK</span><br />
|
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<span class="medgenPMjournal">World J Pediatr</span>
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2018 Aug;14(4):330-334.
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||
Epub 2018 Jul 10
|
||
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|
||
<span class="bold">PMID: </span><a href="/pubmed/29992379" target="_blank">29992379</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tracheoesophageal%20fistula%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 (40)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Tracheoesophageal+fistula/7156" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/tracheoesophageal_fistula_with_or_without_esophageal_atresia" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Tracheoesophageal%20fistula" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/6381/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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