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<meta name="keywords" content="C4021777, abnormality of the larynx, anatomical abnormality, laryngeal abnormalities, laryngeal anomalies, 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 abnormality of the larynx." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Abnormality of the larynx (Concept Id: C4021777)
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<!--
UID=867407
ConceptID=C4021777
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of the larynx</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867407</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.">C4021777</a></dd><dt><span class="dotprefix"></span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Laryngeal abnormalities; Laryngeal anomalies</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:0001600">HP:0001600</a></td></tr>
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<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 abnormality of the larynx. [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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4021777[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=867407">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=867407" ref="ncbi_uid=867407">V</a></span></span><span class="TLline">Abnormality of the larynx</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/871244" ref="tree=MeSH" title="MedGen record for Abnormality of the upper respiratory tract">Abnormality of the upper respiratory tract</a></span><ul><li><span class="matched_ds">Abnormality of the larynx</span><ul><li><span class="TLline"><a href="/medgen/1374288" ref="tree=MeSH" title="MedGen record for Abnormal larynx morphology">Abnormal larynx morphology</a></span><ul><li><span class="TLline"><a href="/medgen/340304" ref="tree=MeSH" title="MedGen record for Abnormal aryepiglottic fold morphology">Abnormal aryepiglottic fold morphology</a></span></li><li><span class="TLline"><a href="/medgen/893031" ref="tree=MeSH" title="MedGen record for Abnormal cricoid cartilage morphology">Abnormal cricoid cartilage morphology</a></span></li><li><span class="TLline"><a href="/medgen/870736" ref="tree=MeSH" title="MedGen record for Abnormal epiglottis morphology">Abnormal epiglottis morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869364" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the Epiglottis">Aplasia/Hypoplasia of the Epiglottis</a></span></li><li><span class="TLline"><a href="/medgen/137932" ref="tree=MeSH" title="MedGen record for Bifid epiglottis">Bifid epiglottis</a></span></li><li><span class="TLline"><a href="/medgen/1864330" ref="tree=MeSH" title="MedGen record for Epiglottic enlargement">Epiglottic enlargement</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/852465" ref="tree=MeSH" title="MedGen record for Abnormal vocal cord morphology">Abnormal vocal cord morphology</a></span><ul><li><span class="TLline"><a href="/medgen/96005" ref="tree=MeSH" title="MedGen record for Bowing of the vocal cords">Bowing of the vocal cords</a></span></li><li><span class="TLline"><a href="/medgen/21887" ref="tree=MeSH" title="MedGen record for Polyp of vocal cord">Polyp of vocal cord</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/812324" ref="tree=MeSH" title="MedGen record for Anteroposteriorly shortened larynx">Anteroposteriorly shortened larynx</a></span></li><li><span class="TLline"><a href="/medgen/344538" ref="tree=MeSH" title="MedGen record for Cartilaginous ossification of larynx">Cartilaginous ossification of larynx</a></span></li><li><span class="TLline"><a href="/medgen/120500" ref="tree=MeSH" title="MedGen record for Congenital laryngomalacia">Congenital laryngomalacia</a></span></li><li><span class="TLline"><a href="/medgen/536784" ref="tree=MeSH" title="MedGen record for Fractured larynx">Fractured larynx</a></span></li><li><span class="TLline"><a href="/medgen/78572" ref="tree=MeSH" title="MedGen record for Laryngeal atresia">Laryngeal atresia</a></span></li><li><span class="TLline"><a href="/medgen/347811" ref="tree=MeSH" title="MedGen record for Laryngeal calcification">Laryngeal calcification</a></span></li><li><span class="TLline"><a href="/medgen/867172" ref="tree=MeSH" title="MedGen record for Laryngeal cartilage malformation">Laryngeal cartilage malformation</a></span></li><li><span class="TLline"><a href="/medgen/327075" ref="tree=MeSH" title="MedGen record for Laryngeal cleft">Laryngeal cleft</a></span></li><li><span class="TLline"><a href="/medgen/451040" ref="tree=MeSH" title="MedGen record for Laryngeal cyst">Laryngeal cyst</a></span></li><li><span class="TLline"><a href="/medgen/6017" ref="tree=MeSH" title="MedGen record for Laryngeal edema">Laryngeal edema</a></span></li><li><span class="TLline"><a href="/medgen/96567" ref="tree=MeSH" title="MedGen record for Laryngeal hypoplasia">Laryngeal hypoplasia</a></span></li><li><span class="TLline"><a href="/medgen/1841869" ref="tree=MeSH" title="MedGen record for Laryngeal mass">Laryngeal mass</a></span></li><li><span class="TLline"><a href="/medgen/82677" ref="tree=MeSH" title="MedGen record for Laryngeal obstruction">Laryngeal obstruction</a></span></li><li><span class="TLline"><a href="/medgen/7274" ref="tree=MeSH" title="MedGen record for Laryngeal stenosis">Laryngeal stenosis</a></span></li><li><span class="TLline"><a href="/medgen/84297" ref="tree=MeSH" title="MedGen record for Laryngeal web">Laryngeal web</a></span></li><li><span class="TLline"><a href="/medgen/1714936" ref="tree=MeSH" title="MedGen record for Subglottic laryngitis">Subglottic laryngitis</a></span></li><li><span class="TLline"><a href="/medgen/68668" ref="tree=MeSH" title="MedGen record for Subglottic stenosis">Subglottic stenosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1388607" ref="tree=MeSH" title="MedGen record for Abnormal larynx physiology">Abnormal larynx physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1634046" ref="tree=MeSH" title="MedGen record for Laryngeal stridor">Laryngeal stridor</a></span></li><li><span class="TLline"><a href="/medgen/44071" ref="tree=MeSH" title="MedGen record for Laryngospasm">Laryngospasm</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_44252"><div><strong>Short-rib thoracic dysplasia 6 with or without polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44252</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.">C0024507</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).&#13; There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330).&#13; For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/44252">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_162881"><div><strong>Smith-Magenis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162881</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0795864</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly coarse facial features that progress with age), developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbance, and childhood-onset abdominal obesity. Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. The majority of individuals function in the mild-to-moderate range of intellectual disability. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood. Sensory issues are frequently noted; these may include avoidant behavior, as well as repetitive seeking of textures, sounds, and experiences. Toileting difficulties are common. Significant anxiety is common as are problems with executive functioning, including inattention, distractibility, hyperactivity, and impulsivity. Maladaptive behaviors include frequent outbursts / temper tantrums, attention-seeking behaviors, opposition, aggression, and self-injurious behaviors including self-hitting, self-biting, skin picking, inserting foreign objects into body orifices (polyembolokoilamania), and yanking fingernails and/or toenails (onychotillomania). Among the stereotypic behaviors described, the spasmodic upper-body squeeze or "self-hug" seems to be highly associated with SMS. An underlying developmental asynchrony, specifically emotional maturity delayed beyond intellectual functioning, may also contribute to maladaptive behaviors in people with SMS.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/162881">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_163225"><div><strong>Toriello-Carey syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163225</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.">C0796184</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Toriello-Carey syndrome is a multiple congenital anomaly disorder with variable systemic manifestations, most commonly including mental retardation, agenesis of the corpus callosum, postnatal growth delay, cardiac defects, usually septal defects, distal limb defects, and urogenital anomalies in affected males. Patients have facial dysmorphic features, micrognathia, including full cheeks, hypertelorism, flattened nasal bridge, anteverted nares, and short neck. Not all features are found in all patients and some patients may have additional features such as anal anomalies or hernias (summary by Toriello et al., 2003).&#13; In a review of the Toriello-Carey syndrome, Toriello et al. (2016) stated that while corpus callosum abnormalities and micrognathia with highly arched or cleft palate are seen in most patients, other manifestations are widely variable. They noted that etiologic heterogeneity has been observed in reported patients, with at least 20% of patients having chromosome anomalies, and that no good candidate genes have been identified by exome sequencing. The authors commented that this condition might not be a unitary diagnostic entity. They recommended chromosome microarray for any child suspected of having the condition, followed by standard of care by genetic testing.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/163225">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_811346"><div><strong>Meckel syndrome, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811346</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.">C3714506</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver.&#13; Genetic Heterogeneity of Meckel Syndrome&#13; See also MKS2 (603194), caused by mutation in the TMEM216 gene (613277) on chromosome 11q12; MKS3 (607361), caused by mutation in the TMEM67 gene (609884) on chromosome 8q; MKS4 (611134), caused by mutation in the CEP290 gene (610142) on chromosome 12q; MKS5 (611561), caused by mutation in the RPGRIP1L gene (610937) on chromosome 16q12; MKS6 (612284), caused by mutation in the CC2D2A gene (612013) on chromosome 4p15; MKS7 (267010), caused by mutation in the NPHP3 (608002) gene on chromosome 3q22; MKS8 (613885), caused by mutation in the TCTN2 gene (613846) on chromosome 12q24; MKS9 (614209), caused by mutation in the B9D1 gene (614144) on chromosome 17p11; MKS10 (614175), caused by mutation in the B9D2 gene (611951) on chromosome 19q13; MKS11 (615397), caused by mutation in the TMEM231 gene (614949) on chromosome 16q23; MKS12 (616258), caused by mutation in the KIF14 gene (611279) on chromosome 1q32; MKS13 (617562), caused by mutation in the TMEM107 gene (616183) on chromosome 17p13; and MKS14 (619879), caused by mutation in the TXNDC15 gene (617778) on chromosome 5q31.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/811346">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811346" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meckel syndrome, type 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_44252" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short-rib thoracic dysplasia 6 with or without polydactyly</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Smith-Magenis syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Toriello-Carey syndrome</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/33369738">Characterization of Functional Dysphonia: Pre- and Post-Treatment Findings.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tierney WS,
Xiao R,
Milstein CF</span><br />
<span class="medgenPMjournal">Laryngoscope</span>
2021 Jun;131(6):E1957-E1964.
Epub 2020 Dec 28
doi: 10.1002/lary.29358.
<span class="bold">PMID: </span><a href="/pubmed/33369738" target="_blank">33369738</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22abnormality%20of%20the%20larynx%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/33393421">Histopathology of laryngomalacia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gan RWC,
Moustafa A,
Turner K,
Knight L</span><br />
<span class="medgenPMjournal">Acta Otolaryngol</span>
2021 Jan;141(1):85-88.
Epub 2020 Oct 14
doi: 10.1080/00016489.2020.1821246.
<span class="bold">PMID: </span><a href="/pubmed/33393421" target="_blank">33393421</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30396407">Airway Anomalies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Landry AM,
Rutter MJ</span><br />
<span class="medgenPMjournal">Clin Perinatol</span>
2018 Dec;45(4):597-607.
Epub 2018 Sep 11
doi: 10.1016/j.clp.2018.07.002.
<span class="bold">PMID: </span><a href="/pubmed/30396407" target="_blank">30396407</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28132084">Pediatric airway surgery.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Maeda K</span><br />
<span class="medgenPMjournal">Pediatr Surg Int</span>
2017 Apr;33(4):435-443.
Epub 2017 Jan 28
doi: 10.1007/s00383-016-4050-7.
<span class="bold">PMID: </span><a href="/pubmed/28132084" target="_blank">28132084</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25457074">Congenital laryngeal anomalies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rutter MJ</span><br />
<span class="medgenPMjournal">Braz J Otorhinolaryngol</span>
2014 Nov-Dec;80(6):533-9.
Epub 2014 Aug 21
doi: 10.1016/j.bjorl.2014.08.001.
<span class="bold">PMID: </span><a href="/pubmed/25457074" target="_blank">25457074</a><a href="/pmc/articles/PMC9442750" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22472238">Pediatric supraglottoplasty.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ambrosio A,
Brigger MT</span><br />
<span class="medgenPMjournal">Adv Otorhinolaryngol</span>
2012;73:101-4.
Epub 2012 Mar 29
doi: 10.1159/000334455.
<span class="bold">PMID: </span><a href="/pubmed/22472238" target="_blank">22472238</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20larynx%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 (1612)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36047759">Neonatal Laryngotracheal Anomalies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gallant JN,
Ransom M,
Kaspar A,
Wilcox LJ,
Whigham AS,
Engelstad HJ</span><br />
<span class="medgenPMjournal">Neoreviews</span>
2022 Sep 1;23(9):e613-e624.
doi: 10.1542/neo.23-9-e613.
<span class="bold">PMID: </span><a href="/pubmed/36047759" target="_blank">36047759</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31088295">Laryngeal Venous Malformation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rutt A,
Karatayli Ozgursoy S,
Paz-Fumagalli R</span><br />
<span class="medgenPMjournal">Ear Nose Throat J</span>
2020 Jul;99(6):367-368.
Epub 2019 May 15
doi: 10.1177/0145561319840136.
<span class="bold">PMID: </span><a href="/pubmed/31088295" target="_blank">31088295</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30396407">Airway Anomalies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Landry AM,
Rutter MJ</span><br />
<span class="medgenPMjournal">Clin Perinatol</span>
2018 Dec;45(4):597-607.
Epub 2018 Sep 11
doi: 10.1016/j.clp.2018.07.002.
<span class="bold">PMID: </span><a href="/pubmed/30396407" target="_blank">30396407</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27301599">Subglottic stenosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jefferson ND,
Cohen AP,
Rutter MJ</span><br />
<span class="medgenPMjournal">Semin Pediatr Surg</span>
2016 Jun;25(3):138-43.
Epub 2016 Feb 20
doi: 10.1053/j.sempedsurg.2016.02.006.
<span class="bold">PMID: </span><a href="/pubmed/27301599" target="_blank">27301599</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27301597">Laryngotracheoesophageal clefts.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Strychowsky JE,
Rahbar R</span><br />
<span class="medgenPMjournal">Semin Pediatr Surg</span>
2016 Jun;25(3):128-31.
Epub 2016 Feb 21
doi: 10.1053/j.sempedsurg.2016.02.005.
<span class="bold">PMID: </span><a href="/pubmed/27301597" target="_blank">27301597</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20larynx%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 (1931)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/22835508">Management of laryngomalacia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ayari S,
Aubertin G,
Girschig H,
Van Den Abbeele T,
Denoyelle F,
Couloignier V,
Mondain M</span><br />
<span class="medgenPMjournal">Eur Ann Otorhinolaryngol Head Neck Dis</span>
2013 Feb;130(1):15-21.
Epub 2012 Jul 24
doi: 10.1016/j.anorl.2012.04.003.
<span class="bold">PMID: </span><a href="/pubmed/22835508" target="_blank">22835508</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9782006">Caustic injury of the larynx.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Soo G,
van Hasselt CA</span><br />
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
1998 Oct;119(4):425-6.
doi: 10.1016/S0194-5998(98)70094-4.
<span class="bold">PMID: </span><a href="/pubmed/9782006" target="_blank">9782006</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6367543">Laryngeal effects of prolonged intubation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bishop MJ,
Weymuller EA Jr,
Fink BR</span><br />
<span class="medgenPMjournal">Anesth Analg</span>
1984 Mar;63(3):335-42.
<span class="bold">PMID: </span><a href="/pubmed/6367543" target="_blank">6367543</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1111362">Massive swelling of the head and neck.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ellis SC,
Bryan-Brown CW,
Hyderally H</span><br />
<span class="medgenPMjournal">Anesthesiology</span>
1975 Jan;42(1):102-3.
doi: 10.1097/00000542-197501000-00017.
<span class="bold">PMID: </span><a href="/pubmed/1111362" target="_blank">1111362</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4894403">Post-intubation subglottic granulation tissue: review of the problem and evaluation of radiotherapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Smith RO,
Hemenway WG,
English GM,
Black FO,
Swan H</span><br />
<span class="medgenPMjournal">Laryngoscope</span>
1969 Jul;79(7):1227-51.
doi: 10.1288/00005537-196907000-00003.
<span class="bold">PMID: </span><a href="/pubmed/4894403" target="_blank">4894403</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20larynx%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 (778)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/30396407">Airway Anomalies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Landry AM,
Rutter MJ</span><br />
<span class="medgenPMjournal">Clin Perinatol</span>
2018 Dec;45(4):597-607.
Epub 2018 Sep 11
doi: 10.1016/j.clp.2018.07.002.
<span class="bold">PMID: </span><a href="/pubmed/30396407" target="_blank">30396407</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28132084">Pediatric airway surgery.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Maeda K</span><br />
<span class="medgenPMjournal">Pediatr Surg Int</span>
2017 Apr;33(4):435-443.
Epub 2017 Jan 28
doi: 10.1007/s00383-016-4050-7.
<span class="bold">PMID: </span><a href="/pubmed/28132084" target="_blank">28132084</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24375071">The effects of prematurity on incidence of aspiration following supraglottoplasty for laryngomalacia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Anderson de Moreno LC,
Matt BH</span><br />
<span class="medgenPMjournal">Laryngoscope</span>
2014 Mar;124(3):777-80.
Epub 2013 Dec 16
doi: 10.1002/lary.21855.
<span class="bold">PMID: </span><a href="/pubmed/24375071" target="_blank">24375071</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22151899">Laryngo-tracheo-oesophageal clefts.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Leboulanger N,
Garabédian EN</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2011 Dec 7;6:81.
doi: 10.1186/1750-1172-6-81.
<span class="bold">PMID: </span><a href="/pubmed/22151899" target="_blank">22151899</a><a href="/pmc/articles/PMC3261097" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9782006">Caustic injury of the larynx.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Soo G,
van Hasselt CA</span><br />
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
1998 Oct;119(4):425-6.
doi: 10.1016/S0194-5998(98)70094-4.
<span class="bold">PMID: </span><a href="/pubmed/9782006" target="_blank">9782006</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20larynx%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 (834)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/33814215">Laryngeal inhalational injuries: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tang JA,
Amadio G,
Nagappan L,
Schmalbach CE,
Dion GR</span><br />
<span class="medgenPMjournal">Burns</span>
2022 Feb;48(1):23-33.
Epub 2021 Feb 27
doi: 10.1016/j.burns.2021.02.006.
<span class="bold">PMID: </span><a href="/pubmed/33814215" target="_blank">33814215</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29622320">Laryngomalacia, Tracheomalacia and Bronchomalacia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hysinger EB</span><br />
<span class="medgenPMjournal">Curr Probl Pediatr Adolesc Health Care</span>
2018 Apr;48(4):113-118.
Epub 2018 Apr 3
doi: 10.1016/j.cppeds.2018.03.002.
<span class="bold">PMID: </span><a href="/pubmed/29622320" target="_blank">29622320</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27177444">Systematic review of the diagnostic value of laryngeal stroboscopy in excluding early glottic carcinoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">van Balkum M,
Buijs B,
Donselaar EJ,
Erkelens DC,
Goulin Lippi Fernandes E,
Wegner I,
Grolman W,
Janssen LM</span><br />
<span class="medgenPMjournal">Clin Otolaryngol</span>
2017 Feb;42(1):123-130.
Epub 2016 Jun 1
doi: 10.1111/coa.12678.
<span class="bold">PMID: </span><a href="/pubmed/27177444" target="_blank">27177444</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12186132">Vocal cord dysfunction masquerading as bronchial asthma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hira HS</span><br />
<span class="medgenPMjournal">J Assoc Physicians India</span>
2002 May;50(5):712-6.
<span class="bold">PMID: </span><a href="/pubmed/12186132" target="_blank">12186132</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1991057">Single-stage laryngotracheal reconstruction.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lusk RP,
Gray S,
Muntz HR</span><br />
<span class="medgenPMjournal">Arch Otolaryngol Head Neck Surg</span>
1991 Feb;117(2):171-3.
doi: 10.1001/archotol.1991.01870140059006.
<span class="bold">PMID: </span><a href="/pubmed/1991057" target="_blank">1991057</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20larynx%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 (893)</a></div></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Timashpolsky A,
Schild SD,
Ballard DP,
Leventer SP,
Rosenfeld RM,
Plum AW</span><br />
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
2021 Mar;164(3):489-500.
Epub 2020 Aug 18
doi: 10.1177/0194599820947742.
<span class="bold">PMID: </span><a href="/pubmed/32807006" target="_blank">32807006</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33152963">Presentation and management of type 1 laryngeal clefts: A systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Reddy P,
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White DR</span><br />
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
2020 Nov;138:110370.
Epub 2020 Sep 9
doi: 10.1016/j.ijporl.2020.110370.
<span class="bold">PMID: </span><a href="/pubmed/33152963" target="_blank">33152963</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33100073">Systematic review of laryngocele and pyolaryngocele management in the age of robotic surgery.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Singh R,
Karantanis W,
Fadhil M,
Kumar SA,
Crawford J,
Jacobson I</span><br />
<span class="medgenPMjournal">J Int Med Res</span>
2020 Oct;48(10):300060520940441.
doi: 10.1177/0300060520940441.
<span class="bold">PMID: </span><a href="/pubmed/33100073" target="_blank">33100073</a><a href="/pmc/articles/PMC7604991" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30680950">Magnetic resonance imaging of the larynx in the pediatric population: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Elders BBLJ,
Hermelijn SM,
Tiddens HAWM,
Pullens B,
Wielopolski PA,
Ciet P</span><br />
<span class="medgenPMjournal">Pediatr Pulmonol</span>
2019 Apr;54(4):478-486.
Epub 2019 Jan 25
doi: 10.1002/ppul.24250.
<span class="bold">PMID: </span><a href="/pubmed/30680950" target="_blank">30680950</a><a href="/pmc/articles/PMC6590591" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29067893">Laryngomalacia: is there an evidence base for management?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McCaffer C,
Blackmore K,
Flood LM</span><br />
<span class="medgenPMjournal">J Laryngol Otol</span>
2017 Nov;131(11):946-954.
Epub 2017 Oct 25
doi: 10.1017/S0022215117002092.
<span class="bold">PMID: </span><a href="/pubmed/29067893" target="_blank">29067893</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20larynx%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 (22)</a></div></div>
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