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<meta name="keywords" content="C4025750, abnormal nasopharynx morphology, abnormality of the nasopharynx, anatomical 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="A structural anomaly of the nasopharynx." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Abnormal nasopharynx morphology (Concept Id: C4025750)
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<!--
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal nasopharynx morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871265</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.">C4025750</a></dd><dt><span class="dotprefix"></span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Abnormality of the nasopharynx</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:0001739">HP:0001739</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">A structural anomaly of the nasopharynx. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet 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">Abnormal nasopharynx morphology</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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="TLline"><a href="/medgen/871345" ref="tree=MeSH" title="MedGen record for Abnormality of the pharynx">Abnormality of the pharynx</a></span><ul><li><span class="TLline"><a href="/medgen/1747053" ref="tree=MeSH" title="MedGen record for Abnormal pharynx morphology">Abnormal pharynx morphology</a></span><ul><li><span class="matched_ds">Abnormal nasopharynx morphology</span></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_66357"><div><strong>Oromandibular-limb hypogenesis spectrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66357</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.">C0221060</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The most basic description of Moebius syndrome is a congenital facial palsy with impairment of ocular abduction. The facial nerve (cranial nerve VII) and abducens nerve (CN VI) are most frequently involved, but other cranial nerves may be involved as well. Other variable features include orofacial dysmorphism and limb malformations. Mental retardation has been reported in a subset of patients. Most cases of Moebius syndrome are sporadic, but familial occurrence has been reported (Verzijl et al., 2003).&#13; The definition of and diagnostic criteria for Moebius syndrome have been controversial and problematic. The syndrome has most frequently been confused with hereditary congenital facial paresis (HCFP; see 601471), which is restricted to involvement of the facial nerve and no other abnormalities. Verzijl et al. (2003) and Verzijl et al. (2005) concluded that HCFP and Moebius syndrome are distinct disorders, and that Moebius syndrome is a complex developmental disorder of the brainstem.&#13; Moebius syndrome was defined at the Moebius Syndrome Foundation Research Conference in 2007 as congenital, nonprogressive facial weakness with limited abduction of one or both eyes. Additional features can include hearing loss and other cranial nerve dysfunction, as well as motor, orofacial, musculoskeletal, neurodevelopmental, and social problems (summary by Webb et al., 2012).&#13; Kumar (1990) provided a review of Moebius syndrome, which was critiqued by Lipson et al. (1990). Briegel (2006) provided a review of Moebius sequence with special emphasis on neuropsychiatric findings.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66357">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_120517"><div><strong>Schinzel-Giedion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120517</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.">C0265227</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Classic Schinzel-Giedion syndrome (SGS), an ultra-rare multisystem disorder caused by gain-of-function pathogenic variants in a SETBP1 mutational hot spot, is characterized by global neurodevelopmental impairment leading to moderate-to-profound intellectual disability, epilepsy (often refractory to treatment), hypotonia, spasticity, dysautonomia, hearing loss, and cerebral visual impairment. Other findings can include poor weight gain often associated with gastroesophageal reflux disease, chronic vomiting, constipation, gastroparesis, and/or feeding intolerance. Structural malformations can involve the heart, skeleton, kidney and urinary tract, genitalia, and brain. Anomalies of the liver, spleen, and/or pancreas are less common. Other features may include neuroepithelial neoplasia, severely disrupted sleep, choanal stenosis, inguinal hernia, sensitive skin, and increased risk of infection. To date, more than 50 individuals have been reported with molecularly confirmed classic SGS. Atypical SGS, reported in five individuals to date, is caused by pathogenic SETBP1 variants in proximity to but not within the mutational hot spot. The broad spectrum of clinical features of variable severity partially overlaps with classic SGS; however, this spectrum does not include risk for neuroepithelial neoplasia to date.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/120517">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_301647"><div><strong>Duane-radial ray syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>301647</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.">C1623209</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">SALL4-related disorders include Duane-radial ray syndrome (DRRS, Okihiro syndrome), acro-renal-ocular syndrome (AROS), and SALL4-related Holt-Oram syndrome (HOS) three phenotypes previously thought to be distinct entities. DRRS is characterized by uni- or bilateral Duane anomaly and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs, hypoplasia or aplasia of the radii, shortening and radial deviation of the forearms, triphalangeal thumbs, and duplication of the thumb (preaxial polydactyly). AROS is characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesicoureteral reflux, bladder diverticula), ocular coloboma, and Duane anomaly. Rarely, pathogenic variants in SALL4 may cause clinically typical HOS (i.e., radial ray malformations and cardiac malformations without additional features).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/301647">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_326686"><div><strong>Solitary median maxillary central incisor syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326686</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.">C1840235</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Solitary median maxillary central incisor (SMMCI) may occur as an isolated anomaly or with various associated features, primarily short stature, choanal atresia, midnasal stenosis, and holoprosencephaly (Hall et al., 1997).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/326686">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_343663"><div><strong>Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343663</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.">C1851841</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/343663">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_347666"><div><strong>Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347666</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.">C1858562</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/347666">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_419753"><div><strong>Craniometaphyseal dysplasia, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419753</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.">C2931244</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy (summary by Nurnberg et al., 1997).&#13; The delineation of separate autosomal dominant (CMDD; 123000) and autosomal recessive forms of CMD by Gorlin et al. (1969) was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, whereas the recessive form is rare, severe, and possibly heterogeneous.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/419753">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_424842"><div><strong>X-linked Opitz G/BBB syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>424842</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.">C2936904</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">MID1-related Opitz G/BBB syndrome (MID1-OS) is characterized by facial anomalies (hypertelorism, prominent forehead, widow's peak, broad nasal bridge, anteverted nares), genitourinary abnormalities (hypospadias, cryptorchidism, and hypoplastic/bifid scrotum), and laryngotracheoesophageal defects. Developmental delay and intellectual disability are observed in about 30% of affected males. Cleft lip and/or palate are present in approximately half of affected males. Other malformations (present in &lt;50% of affected males) include congenital heart defects, imperforate or ectopic anus, and midline brain defects (Dandy-Walker malformation and agenesis or hypoplasia of the corpus callosum and/or cerebellar vermis). Wide clinical variability occurs even among members of the same family. Female heterozygotes usually manifest hypertelorism only.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/424842">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)&#10;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.&#13; 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).&#13; 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="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniometaphyseal dysplasia, autosomal recessive</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_301647" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Duane-radial ray syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343663" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347666" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_66357" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oromandibular-limb hypogenesis spectrum</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (9)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120517" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Schinzel-Giedion syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_326686" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Solitary median maxillary central incisor syndrome</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_424842" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked Opitz G/BBB syndrome</a></div></span></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/27135270">Diagnosis and Treatment of Nasopharyngeal Carcinoma in Children and Adolescents - Recommendations of the GPOH-NPC Study Group.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kontny U,
Franzen S,
Behrends U,
Bührlen M,
Christiansen H,
Delecluse H,
Eble M,
Feuchtinger T,
Gademann G,
Granzen B,
Kratz CP,
Lassay L,
Leuschner I,
Mottaghy FM,
Schmitt C,
Staatz G,
Timmermann B,
Vorwerk P,
Wilop S,
Wolff HA,
Mertens R</span><br />
<span class="medgenPMjournal">Klin Padiatr</span>
2016 Apr;228(3):105-12.
Epub 2016 May 2
doi: 10.1055/s-0041-111180.
<span class="bold">PMID: </span><a href="/pubmed/27135270" target="_blank">27135270</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3259168">Diagnosis and treatment of submucous cleft palate: a review of 108 cases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">García Velasco M,
Ysunza A,
Hernandez X,
Marquez C</span><br />
<span class="medgenPMjournal">Cleft Palate J</span>
1988 Apr;25(2):171-3.
<span class="bold">PMID: </span><a href="/pubmed/3259168" target="_blank">3259168</a></div>
<div class="nl"><a target="_blank" href="/pubmed/504909">Endoscopy in diagnosis and treatment of choanal atresia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Winther LK</span><br />
<span class="medgenPMjournal">Rhinology</span>
1979 Sep;17(3):177-8.
<span class="bold">PMID: </span><a href="/pubmed/504909" target="_blank">504909</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20nasopharynx%20morphology)%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 (23)</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/38388556">Microbes translocation from oral cavity to nasopharyngeal carcinoma in patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liao Y,
Wu YX,
Tang M,
Chen YW,
Xie JR,
Du Y,
Wang TM,
He YQ,
Xue WQ,
Zheng XH,
Liu QY,
Zheng MQ,
Jia YJ,
Tong XT,
Zhou T,
Li XZ,
Yang DW,
Diao H,
Jia WH</span><br />
<span class="medgenPMjournal">Nat Commun</span>
2024 Feb 22;15(1):1645.
doi: 10.1038/s41467-024-45518-2.
<span class="bold">PMID: </span><a href="/pubmed/38388556" target="_blank">38388556</a><a href="/pmc/articles/PMC10883945" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37283767">Adenoid lymphocyte heterogeneity in pediatric adenoid hypertrophy and obstructive sleep apnea.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu Y,
Wang S,
Yang Y,
Shen B,
Wang A,
Zhang X,
Zhang X,
Li N,
Gao Z,
Liu Y,
Zhu J,
Wei Z,
Guan J,
Su K,
Liu F,
Gu M,
Yin S</span><br />
<span class="medgenPMjournal">Front Immunol</span>
2023;14:1186258.
Epub 2023 May 22
doi: 10.3389/fimmu.2023.1186258.
<span class="bold">PMID: </span><a href="/pubmed/37283767" target="_blank">37283767</a><a href="/pmc/articles/PMC10239814" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36159237">The impact of mouth breathing on dentofacial development: A concise review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lin L,
Zhao T,
Qin D,
Hua F,
He H</span><br />
<span class="medgenPMjournal">Front Public Health</span>
2022;10:929165.
Epub 2022 Sep 8
doi: 10.3389/fpubh.2022.929165.
<span class="bold">PMID: </span><a href="/pubmed/36159237" target="_blank">36159237</a><a href="/pmc/articles/PMC9498581" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29153763">Prevalence of adenoid hypertrophy: A systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pereira L,
Monyror J,
Almeida FT,
Almeida FR,
Guerra E,
Flores-Mir C,
Pachêco-Pereira C</span><br />
<span class="medgenPMjournal">Sleep Med Rev</span>
2018 Apr;38:101-112.
Epub 2017 Jun 14
doi: 10.1016/j.smrv.2017.06.001.
<span class="bold">PMID: </span><a href="/pubmed/29153763" target="_blank">29153763</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27604644">Otitis media.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schilder AG,
Chonmaitree T,
Cripps AW,
Rosenfeld RM,
Casselbrant ML,
Haggard MP,
Venekamp RP</span><br />
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
2016 Sep 8;2(1):16063.
doi: 10.1038/nrdp.2016.63.
<span class="bold">PMID: </span><a href="/pubmed/27604644" target="_blank">27604644</a><a href="/pmc/articles/PMC7097351" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20nasopharynx%20morphology%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 (301)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/29153763">Prevalence of adenoid hypertrophy: A systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pereira L,
Monyror J,
Almeida FT,
Almeida FR,
Guerra E,
Flores-Mir C,
Pachêco-Pereira C</span><br />
<span class="medgenPMjournal">Sleep Med Rev</span>
2018 Apr;38:101-112.
Epub 2017 Jun 14
doi: 10.1016/j.smrv.2017.06.001.
<span class="bold">PMID: </span><a href="/pubmed/29153763" target="_blank">29153763</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27604644">Otitis media.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schilder AG,
Chonmaitree T,
Cripps AW,
Rosenfeld RM,
Casselbrant ML,
Haggard MP,
Venekamp RP</span><br />
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
2016 Sep 8;2(1):16063.
doi: 10.1038/nrdp.2016.63.
<span class="bold">PMID: </span><a href="/pubmed/27604644" target="_blank">27604644</a><a href="/pmc/articles/PMC7097351" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26055604">A hairy situation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ibrahim N,
Wooles NR,
Elloy M,
Da Forno P</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2015 Jun 8;2015
doi: 10.1136/bcr-2015-209825.
<span class="bold">PMID: </span><a href="/pubmed/26055604" target="_blank">26055604</a><a href="/pmc/articles/PMC4460391" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25733228">Nasal endoscopy: new tools and technology for accurate assessment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bliss M,
Muntz H</span><br />
<span class="medgenPMjournal">Adv Otorhinolaryngol</span>
2015;76:18-26.
Epub 2015 Feb 12
doi: 10.1159/000368005.
<span class="bold">PMID: </span><a href="/pubmed/25733228" target="_blank">25733228</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15087574">The effects of adenoidectomy and tonsillectomy on speech and nasal resonance.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Maryn Y,
Van Lierde K,
De Bodt M,
Van Cauwenberge P</span><br />
<span class="medgenPMjournal">Folia Phoniatr Logop</span>
2004 May-Jun;56(3):182-91.
doi: 10.1159/000076940.
<span class="bold">PMID: </span><a href="/pubmed/15087574" target="_blank">15087574</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20nasopharynx%20morphology%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 (244)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/29153763">Prevalence of adenoid hypertrophy: A systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pereira L,
Monyror J,
Almeida FT,
Almeida FR,
Guerra E,
Flores-Mir C,
Pachêco-Pereira C</span><br />
<span class="medgenPMjournal">Sleep Med Rev</span>
2018 Apr;38:101-112.
Epub 2017 Jun 14
doi: 10.1016/j.smrv.2017.06.001.
<span class="bold">PMID: </span><a href="/pubmed/29153763" target="_blank">29153763</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27604644">Otitis media.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schilder AG,
Chonmaitree T,
Cripps AW,
Rosenfeld RM,
Casselbrant ML,
Haggard MP,
Venekamp RP</span><br />
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
2016 Sep 8;2(1):16063.
doi: 10.1038/nrdp.2016.63.
<span class="bold">PMID: </span><a href="/pubmed/27604644" target="_blank">27604644</a><a href="/pmc/articles/PMC7097351" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6351256">Infants of drug-dependent mothers.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Harris VJ,
Srinivasan G</span><br />
<span class="medgenPMjournal">Semin Roentgenol</span>
1983 Jul;18(3):179-82.
doi: 10.1016/0037-198x(83)90021-4.
<span class="bold">PMID: </span><a href="/pubmed/6351256" target="_blank">6351256</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1090290">Optic nerve anomalies in basal encephalocele.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Goldhammer Y,
Smith JL</span><br />
<span class="medgenPMjournal">Arch Ophthalmol</span>
1975 Feb;93(2):115-8.
doi: 10.1001/archopht.1975.01010020121004.
<span class="bold">PMID: </span><a href="/pubmed/1090290" target="_blank">1090290</a></div>
<div class="nl"><a target="_blank" href="/pubmed/5235693">Teflon injection pharyngoplasty.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bluestone CD,
Musgrave RH,
McWilliams BJ,
Crozier PA</span><br />
<span class="medgenPMjournal">Cleft Palate J</span>
1968 Jan;5:19-22.
<span class="bold">PMID: </span><a href="/pubmed/5235693" target="_blank">5235693</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20nasopharynx%20morphology%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 (83)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/30396416">Choanal Atresia and Other Neonatal Nasal Anomalies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rajan R,
Tunkel DE</span><br />
<span class="medgenPMjournal">Clin Perinatol</span>
2018 Dec;45(4):751-767.
Epub 2018 Sep 18
doi: 10.1016/j.clp.2018.07.011.
<span class="bold">PMID: </span><a href="/pubmed/30396416" target="_blank">30396416</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24646685">Leukemoid reaction associated with pediatric nasopharyngeal carcinoma: An unusual presentation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kuş AB,
Şahin P,
Uğuz AH,
Tanyeli A,
Küpeli S</span><br />
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
2014 May;78(5):885-7.
Epub 2014 Feb 20
doi: 10.1016/j.ijporl.2014.02.016.
<span class="bold">PMID: </span><a href="/pubmed/24646685" target="_blank">24646685</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.
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<div class="portlet_content ln"><span class="medgenPMauthor">Mealey J Jr,
Dzenitis AJ,
Hockey AA</span><br />
<span class="medgenPMjournal">J Neurosurg</span>
1970 Feb;32(2):209-18.
doi: 10.3171/jns.1970.32.2.0209.
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<div class="portlet_content ln"><span class="medgenPMauthor">Bluestone CD,
Musgrave RH,
McWilliams BJ,
Crozier PA</span><br />
<span class="medgenPMjournal">Cleft Palate J</span>
1968 Jan;5:19-22.
<span class="bold">PMID: </span><a href="/pubmed/5235693" target="_blank">5235693</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20nasopharynx%20morphology%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 (138)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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Matsukawa M,
Yokota Y,
Tanaka N,
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Nohara K</span><br />
<span class="medgenPMjournal">Int J Oral Maxillofac Surg</span>
2023 Aug;52(8):854-859.
Epub 2023 Jan 18
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<div class="nl"><a target="_blank" href="/pubmed/33221635">Pediatric unilateral isolated choanal atresia is not associated with mandibular condyle hypoplasia.</a></div>
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Binnetoglu A,
Fatih Topuz M,
Baş Ikizoglu N,
Ersu R,
Turan S,
Sarı M</span><br />
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
2017 Apr;95:91-96.
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doi: 10.1016/j.ijporl.2017.02.009.
<span class="bold">PMID: </span><a href="/pubmed/28576543" target="_blank">28576543</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25400748">Obstructive sleep apnea syndrome caused by uncommon tumors of the upper aerodigestive tract.</a></div>
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2014;7(10):6686-93.
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<div class="portlet_content ln"><span class="medgenPMauthor">Hall BD</span><br />
<span class="medgenPMjournal">J Pediatr</span>
1979 Sep;95(3):395-8.
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<span class="bold">PMID: </span><a href="/pubmed/469662" target="_blank">469662</a></div>
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2018 Apr;38:101-112.
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<div class="nl"><a target="_blank" href="/pubmed/25639312">Ectopic ACTH-secreting pituitary adenoma of the sphenoid sinus: case report of endoscopic endonasal resection and systematic review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Seltzer J,
Lucas J,
Commins D,
Lerner O,
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<span class="medgenPMjournal">Neurosurg Focus</span>
2015 Feb;38(2):E10.
doi: 10.3171/2014.10.FOCUS14685.
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