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<meta name="keywords" content="C4025317, bilateral blockage of the rear opening of the nasal cavity, bilateral choanal atresia, bilateral obstruction of the rear opening of the nasal cavity, choanal atresia of bilateral nasal passages, choanal atresia of both nasal passages, choanal atresia, bilateral, congenital abnormality, 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="Bilateral absence (atresia) of the posterior nasal aperture (choana)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=870857
ConceptID=C4025317
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Bilateral choanal atresia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870857</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.">C4025317</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Bilateral blockage of the rear opening of the nasal cavity; Bilateral obstruction of the rear opening of the nasal cavity; Choanal atresia of bilateral nasal passages; Choanal atresia of both nasal passages; choanal atresia, bilateral; Choanal atresia, bilateral</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Bilateral choanal atresia (890382007); Choanal atresia of both nasal passages (890382007); Choanal atresia of bilateral nasal passages (890382007)</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&#10;that cannot be identified in NLM's Unified Medical Language system (UMLS)&#10;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:0004502">HP:0004502</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0015313" target="_blank">MONDO:0015313</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=137920">ORPHA137920</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">Bilateral absence (atresia) of the posterior nasal aperture (choana). [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></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 unavailable round" title="Clinical test">C</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 unavailable" title="ClinVar">V</span></span><span class="TLline">Bilateral choanal atresia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867438" ref="tree=MeSH" title="MedGen record for Abnormality of the head">Abnormality of the head</a></span><ul><li><span class="TLline"><a href="/medgen/871375" ref="tree=MeSH" title="MedGen record for Abnormality of the face">Abnormality of the face</a></span><ul><li><span class="TLline"><a href="/medgen/539457" ref="tree=MeSH" title="MedGen record for Abnormality of the nose">Abnormality of the nose</a></span><ul><li><span class="TLline"><a href="/medgen/870795" ref="tree=MeSH" title="MedGen record for Abnormal nasal morphology">Abnormal nasal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871361" ref="tree=MeSH" title="MedGen record for Abnormal choanae morphology">Abnormal choanae morphology</a></span><ul><li><span class="TLline"><a href="/medgen/3395" ref="tree=MeSH" title="MedGen record for Choanal atresia">Choanal atresia</a></span><ul><li><span class="matched_ds">Bilateral choanal atresia</span><ul><li><span class="TLline"><a href="/medgen/867503" ref="tree=MeSH" title="MedGen record for Bilateral choanal atresia/stenosis">Bilateral choanal atresia/stenosis</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_98032"><div><strong>Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98032</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.">C0406709</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98032">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)&#10;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_325265"><div><strong>Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325265</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.">C1837822</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">TXNL4A-related craniofacial disorders comprise a range of phenotypes that includes: isolated choanal atresia; choanal atresia with minor anomalies; and Burn-McKeown syndrome (BMKS), which is characterized by typical craniofacial features (bilateral choanal atresia/stenosis, short palpebral fissures, coloboma of the lower eyelids, prominent nasal bridge with widely spaced eyes, short philtrum, thin vermilion of the upper lip, and prominent ears). Hearing loss is common and cardiac defects and short stature have been reported. Intellectual disability is rare.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/325265">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_343420"><div><strong>Bamforth-Lazarus syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343420</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.">C1855794</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Bamforth-Lazarus syndrome (BAMLAZ) is a rare autosomal recessive disorder characterized by congenital hypothyroidism due to thyroid agenesis or thyroid hypoplasia, cleft palate, and spiky hair, with or without choanal atresia or bifid epiglottis (summary by Sarma et al., 2022).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/343420">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_903483"><div><strong>Acrofacial dysostosis Cincinnati type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>903483</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.">C4225317</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015). In addition, a significant number of neurologic abnormalities have been reported, ranging from mild delays to refractory epilepsy, as well as an increased incidence of congenital heart defects, primarily septal in nature (Smallwood et al., 2023).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/903483">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794196"><div><strong>Congenital disorder of glycosylation, type IIw</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794196</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.">C5561986</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Congenital disorder of glycosylation type IIw (CDG2W) is an autosomal dominant metabolic disorder characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins. All reported patients carry the same mutation (602671.0017) (summary by Ng et al., 2021).&#13; For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794196">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1830104"><div><strong>Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830104</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.">C5680310</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH) is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. Additional features may include developmental delay, impaired intellectual development, and growth failure/retardation (summary by Cuvertino et al., 2020 and Baldridge et al., 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1830104">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_903483" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrofacial dysostosis Cincinnati type</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98032" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343420" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bamforth-Lazarus syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1830104" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325265" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794196" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital disorder of glycosylation, type IIw</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>
</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/32275648">Endoscopic treatment of choanal atresia and use of balloon dilation: our experience.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">De Vincentiis GC,
Panatta ML,
De Corso E,
Marini G,
Bianchi A,
Giuliani M,
Sitzia E,
Tucci FM</span><br />
<span class="medgenPMjournal">Acta Otorhinolaryngol Ital</span>
2020 Feb;40(1):44-49.
doi: 10.14639/0392-100X-1567.
<span class="bold">PMID: </span><a href="/pubmed/32275648" target="_blank">32275648</a><a href="/pmc/articles/PMC7147546" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30291020">Prognostic Factors and Management of Patients with Choanal Atresia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moreddu E,
Rossi ME,
Nicollas R,
Triglia JM</span><br />
<span class="medgenPMjournal">J Pediatr</span>
2019 Jan;204:234-239.e1.
Epub 2018 Oct 2
doi: 10.1016/j.jpeds.2018.08.074.
<span class="bold">PMID: </span><a href="/pubmed/30291020" target="_blank">30291020</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4058223">A stent for the corrective management of bilateral choanal atresia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gleeson MJ,
Hibbert J</span><br />
<span class="medgenPMjournal">Laryngoscope</span>
1985 Nov;95(11):1409-10.
doi: 10.1288/00005537-198511000-00023.
<span class="bold">PMID: </span><a href="/pubmed/4058223" target="_blank">4058223</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22bilateral%20choanal%20atresia%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 (7)</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/38314656">Prevalence and descriptive epidemiology of choanal atresia and stenosis in Texas, 1999-2018.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Benjamin RH,
Marengo LK,
Scheuerle AE,
Agopian AJ,
Mitchell LE</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2024 Jun;194(6):e63549.
Epub 2024 Feb 5
doi: 10.1002/ajmg.a.63549.
<span class="bold">PMID: </span><a href="/pubmed/38314656" target="_blank">38314656</a><a href="/pmc/articles/PMC11060899" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33770044">Features and Strategies in the Management of Choanal Atresia: A 6-Year Retrospective Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kalentakis Z,
Stamataki S,
Chalkiadakis V,
Papapetropoulos N</span><br />
<span class="medgenPMjournal">J Craniofac Surg</span>
2021 Sep 1;32(6):e535-e539.
doi: 10.1097/SCS.0000000000007490.
<span class="bold">PMID: </span><a href="/pubmed/33770044" target="_blank">33770044</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33709157">Endoscopic endonasal repair of complete bilateral choanal atresia in neonates.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ledderose GJ,
Havel M,
Ledderose C,
Betz CS</span><br />
<span class="medgenPMjournal">Eur J Pediatr</span>
2021 Jul;180(7):2245-2251.
Epub 2021 Mar 11
doi: 10.1007/s00431-021-04020-3.
<span class="bold">PMID: </span><a href="/pubmed/33709157" target="_blank">33709157</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32584434">Transfer of patients from a regional centre to a tertiary paediatric hospital for acute otolaryngology management: When is it necessary?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ruskin OR,
Berkowitz RG</span><br />
<span class="medgenPMjournal">J Paediatr Child Health</span>
2020 Oct;56(10):1557-1560.
Epub 2020 Jun 25
doi: 10.1111/jpc.14995.
<span class="bold">PMID: </span><a href="/pubmed/32584434" target="_blank">32584434</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30291020">Prognostic Factors and Management of Patients with Choanal Atresia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moreddu E,
Rossi ME,
Nicollas R,
Triglia JM</span><br />
<span class="medgenPMjournal">J Pediatr</span>
2019 Jan;204:234-239.e1.
Epub 2018 Oct 2
doi: 10.1016/j.jpeds.2018.08.074.
<span class="bold">PMID: </span><a href="/pubmed/30291020" target="_blank">30291020</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bilateral%20choanal%20atresia%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 (46)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35337540">Nasal Obstruction in the Infant.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Frank S,
Schoem SR</span><br />
<span class="medgenPMjournal">Pediatr Clin North Am</span>
2022 Apr;69(2):287-300.
doi: 10.1016/j.pcl.2021.12.002.
<span class="bold">PMID: </span><a href="/pubmed/35337540" target="_blank">35337540</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32741782">Diagnostics and therapy of bilateral choanal atresia in association with CHARGE syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Koppen T,
Bartmann D,
Jakob M,
Bootz F,
Müller A,
Dresbach T,
Send T</span><br />
<span class="medgenPMjournal">J Neonatal Perinatal Med</span>
2021;14(1):67-74.
doi: 10.3233/NPM-200450.
<span class="bold">PMID: </span><a href="/pubmed/32741782" target="_blank">32741782</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32737176">Case 3: Premature Infant with Bilateral Choanal Atresia and Esophageal Atresia/Tracheoesophageal Fistula.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hopkins P,
Delle Donne A,
Rohena L,
Shapiro J</span><br />
<span class="medgenPMjournal">Neoreviews</span>
2020 Aug;21(8):e577-e579.
doi: 10.1542/neo.21-8-e577.
<span class="bold">PMID: </span><a href="/pubmed/32737176" target="_blank">32737176</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21537631">Association between congenital nasolacrimal duct cyst and bilateral choanal atresia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lubianca Neto JF,
Kuhl G,
Smith MM,
Souza PA,
Vieira LR</span><br />
<span class="medgenPMjournal">Braz J Otorhinolaryngol</span>
2011 Mar-Apr;77(2):267.
doi: 10.1590/s1808-86942011000200019.
<span class="bold">PMID: </span><a href="/pubmed/21537631" target="_blank">21537631</a><a href="/pmc/articles/PMC9452211" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19459535">Choanal atresia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Assanasen P,
Metheetrairut C</span><br />
<span class="medgenPMjournal">J Med Assoc Thai</span>
2009 May;92(5):699-706.
<span class="bold">PMID: </span><a href="/pubmed/19459535" target="_blank">19459535</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bilateral%20choanal%20atresia%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 (72)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/34624631">Stenting versus stentless repair for bilateral choanal atresia: A systematic review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gundle L,
Ojha S,
Hendry J,
Rosen H</span><br />
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
2021 Dec;151:110926.
Epub 2021 Oct 1
doi: 10.1016/j.ijporl.2021.110926.
<span class="bold">PMID: </span><a href="/pubmed/34624631" target="_blank">34624631</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30291020">Prognostic Factors and Management of Patients with Choanal Atresia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moreddu E,
Rossi ME,
Nicollas R,
Triglia JM</span><br />
<span class="medgenPMjournal">J Pediatr</span>
2019 Jan;204:234-239.e1.
Epub 2018 Oct 2
doi: 10.1016/j.jpeds.2018.08.074.
<span class="bold">PMID: </span><a href="/pubmed/30291020" target="_blank">30291020</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20934171">Birth defects observed with maternal carbimazole treatment: Six cases reported to Nice's Pharmacovigilance Center.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Koenig D,
Spreux A,
Hiéronimus S,
Chichmanian RM,
Bastiani F,
Fénichel P,
Brucker-Davis F</span><br />
<span class="medgenPMjournal">Ann Endocrinol (Paris)</span>
2010 Dec;71(6):535-42.
Epub 2010 Oct 12
doi: 10.1016/j.ando.2010.07.001.
<span class="bold">PMID: </span><a href="/pubmed/20934171" target="_blank">20934171</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16845518">Bilateral choanal atresia and paranasal sinus hypoplasia in an adult patient with hypogammaglobulinaemia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">El-Sawy H,
Siddiq MA,
Anbarasu A</span><br />
<span class="medgenPMjournal">Eur Arch Otorhinolaryngol</span>
2006 Dec;263(12):1136-8.
Epub 2006 Jul 15
doi: 10.1007/s00405-006-0108-9.
<span class="bold">PMID: </span><a href="/pubmed/16845518" target="_blank">16845518</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9450891">Choanal atresia and hypothelia following methimazole exposure in utero: a second report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wilson LC,
Kerr BA,
Wilkinson R,
Fossard C,
Donnai D</span><br />
<span class="medgenPMjournal">Am J Med Genet</span>
1998 Jan 13;75(2):220-2.
doi: 10.1002/(sici)1096-8628(19980113)75:2&lt;220::aid-ajmg21&gt;3.0.co;2-q.
<span class="bold">PMID: </span><a href="/pubmed/9450891" target="_blank">9450891</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bilateral%20choanal%20atresia%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 (16)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/32275648">Endoscopic treatment of choanal atresia and use of balloon dilation: our experience.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">De Vincentiis GC,
Panatta ML,
De Corso E,
Marini G,
Bianchi A,
Giuliani M,
Sitzia E,
Tucci FM</span><br />
<span class="medgenPMjournal">Acta Otorhinolaryngol Ital</span>
2020 Feb;40(1):44-49.
doi: 10.14639/0392-100X-1567.
<span class="bold">PMID: </span><a href="/pubmed/32275648" target="_blank">32275648</a><a href="/pmc/articles/PMC7147546" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30291020">Prognostic Factors and Management of Patients with Choanal Atresia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moreddu E,
Rossi ME,
Nicollas R,
Triglia JM</span><br />
<span class="medgenPMjournal">J Pediatr</span>
2019 Jan;204:234-239.e1.
Epub 2018 Oct 2
doi: 10.1016/j.jpeds.2018.08.074.
<span class="bold">PMID: </span><a href="/pubmed/30291020" target="_blank">30291020</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27216343">Endoscopic repair of bilateral choanal atresia, starting with vomer resection: Evaluation study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">El-Anwar MW,
Nofal AA,
El-Ahl MA</span><br />
<span class="medgenPMjournal">Am J Rhinol Allergy</span>
2016 May;30(3):95-9.
doi: 10.2500/ajra.2016.30.4321.
<span class="bold">PMID: </span><a href="/pubmed/27216343" target="_blank">27216343</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24445248">Transnasal endoscopic treatment of bilateral choanal atresia in newborns using balloon dilatation: own results and review of literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Riepl R,
Scheithauer M,
Hoffmann TK,
Rotter N</span><br />
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
2014 Mar;78(3):459-64.
Epub 2013 Dec 24
doi: 10.1016/j.ijporl.2013.12.017.
<span class="bold">PMID: </span><a href="/pubmed/24445248" target="_blank">24445248</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19328897">Choanal atresia and choanal stenosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ramsden JD,
Campisi P,
Forte V</span><br />
<span class="medgenPMjournal">Otolaryngol Clin North Am</span>
2009 Apr;42(2):339-52, x.
doi: 10.1016/j.otc.2009.01.001.
<span class="bold">PMID: </span><a href="/pubmed/19328897" target="_blank">19328897</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bilateral%20choanal%20atresia%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 (26)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/35868110">Treatment of choanal atresia in a cohort of 29 patients: Determinants for success or failure.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">van Schaik CGR,
Paasch S,
Albrecht T,
Becker S</span><br />
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
2022 Sep;160:111240.
Epub 2022 Jul 14
doi: 10.1016/j.ijporl.2022.111240.
<span class="bold">PMID: </span><a href="/pubmed/35868110" target="_blank">35868110</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33770044">Features and Strategies in the Management of Choanal Atresia: A 6-Year Retrospective Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kalentakis Z,
Stamataki S,
Chalkiadakis V,
Papapetropoulos N</span><br />
<span class="medgenPMjournal">J Craniofac Surg</span>
2021 Sep 1;32(6):e535-e539.
doi: 10.1097/SCS.0000000000007490.
<span class="bold">PMID: </span><a href="/pubmed/33770044" target="_blank">33770044</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28005740">Anesthesia Management in Patients With Choanal Atresia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yildirim ZB,
Akdağ M,
Çelik F,
Baysal E</span><br />
<span class="medgenPMjournal">J Craniofac Surg</span>
2016 Nov;27(8):1991-1994.
doi: 10.1097/SCS.0000000000003086.
<span class="bold">PMID: </span><a href="/pubmed/28005740" target="_blank">28005740</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21381625">Congenital bilateral choanal atresia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Saleem AF,
Ariff S,
Aslam N,
Ikram M</span><br />
<span class="medgenPMjournal">J Pak Med Assoc</span>
2010 Oct;60(10):869-72.
<span class="bold">PMID: </span><a href="/pubmed/21381625" target="_blank">21381625</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20934171">Birth defects observed with maternal carbimazole treatment: Six cases reported to Nice's Pharmacovigilance Center.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Koenig D,
Spreux A,
Hiéronimus S,
Chichmanian RM,
Bastiani F,
Fénichel P,
Brucker-Davis F</span><br />
<span class="medgenPMjournal">Ann Endocrinol (Paris)</span>
2010 Dec;71(6):535-42.
Epub 2010 Oct 12
doi: 10.1016/j.ando.2010.07.001.
<span class="bold">PMID: </span><a href="/pubmed/20934171" target="_blank">20934171</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bilateral%20choanal%20atresia%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 (19)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/34624631">Stenting versus stentless repair for bilateral choanal atresia: A systematic review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gundle L,
Ojha S,
Hendry J,
Rosen H</span><br />
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
2021 Dec;151:110926.
Epub 2021 Oct 1
doi: 10.1016/j.ijporl.2021.110926.
<span class="bold">PMID: </span><a href="/pubmed/34624631" target="_blank">34624631</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30665176">Immediate versus delayed surgery in congenital choanal atresia: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Murray S,
Luo L,
Quimby A,
Barrowman N,
Vaccani JP,
Caulley L</span><br />
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
2019 Apr;119:47-53.
Epub 2019 Jan 4
doi: 10.1016/j.ijporl.2019.01.001.
<span class="bold">PMID: </span><a href="/pubmed/30665176" target="_blank">30665176</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26014684">To stent or not to stent? A meta-analysis of endonasal congenital bilateral choanal atresia repair.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Strychowsky JE,
Kawai K,
Moritz E,
Rahbar R,
Adil EA</span><br />
<span class="medgenPMjournal">Laryngoscope</span>
2016 Jan;126(1):218-27.
Epub 2015 May 25
doi: 10.1002/lary.25393.
<span class="bold">PMID: </span><a href="/pubmed/26014684" target="_blank">26014684</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bilateral%20choanal%20atresia%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 (3)</a></div></div>
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