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<!--
|
||
UID=140758
|
||
ConceptID=C0395837
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Stenosis of the external auditory canal</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140758</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0395837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>External auditory canal stenosis; Stenotic ear canals; Stenotic external auditory canal; Stenotic external auditory canals</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Stenosis of external auditory canal (301061006); Stenosis of ear canal (301061006)</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:0000402">HP:0000402</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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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">An abnormal narrowing of the external auditory canal. [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>
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<div class="portlet mgSection" id="ID_118">
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<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>
|
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<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=C0395837[DISCUI]&test_type=Clinical" ref="ncbi_uid=140758">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=140758" ref="ncbi_uid=140758">V</a></span></span><span class="TLline">Stenosis of the external auditory canal</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/75618" ref="tree=MeSH" title="MedGen record for Ear malformation">Ear malformation</a></span><ul><li><span class="TLline"><a href="/medgen/1640667" ref="tree=MeSH" title="MedGen record for Abnormal ear morphology">Abnormal ear morphology</a></span><ul><li><span class="TLline"><a href="/medgen/335428" ref="tree=MeSH" title="MedGen record for Abnormality of the outer ear">Abnormality of the outer ear</a></span><ul><li><span class="TLline"><a href="/medgen/867433" ref="tree=MeSH" title="MedGen record for Abnormal auditory canal morphology">Abnormal auditory canal morphology</a></span><ul><li><span class="matched_ds">Stenosis of the external auditory canal</span><ul><li><span class="TLline"><a href="/medgen/868047" ref="tree=MeSH" title="MedGen record for Cutaneous stenosis of the external auditory canal">Cutaneous stenosis of the external auditory canal</a></span></li><li><span class="TLline"><a href="/medgen/868046" ref="tree=MeSH" title="MedGen record for Osseous stenosis of the external auditory canal">Osseous stenosis of the external auditory canal</a></span></li><li><span class="TLline"><a href="/medgen/339530" ref="tree=MeSH" title="MedGen record for Slit-like opening of the exterior auditory meatus">Slit-like opening of the exterior auditory meatus</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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<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_41345"><div><strong>5p partial monosomy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41345</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0010314</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41345">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_42055"><div><strong>Focal dermal hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42055</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0016395</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PORCN-related developmental disorders include a spectrum of highly variable multisystem disorders caused by developmental abnormalities in mesodermal and ectodermal structures primarily involving the skin, limbs, eyes, and face. The manifestations vary among affected individuals, and many have only a subset of the characteristic features. Skin manifestations present at birth include atrophic and hypoplastic areas of skin; cutis aplasia; fat nodules in the dermis manifesting as soft, yellow-pink cutaneous nodules; and pigmentary changes. Verrucous papillomas of the skin and mucous membranes may appear later. The nails can be ridged, dysplastic, or hypoplastic; hair can be sparse or absent. Limb malformations include oligo- and syndactyly and split hand/foot. Developmental abnormalities of the eye can include anophthalmia/microphthalmia, iris and chorioretinal coloboma, and lacrimal duct abnormalities. Craniofacial findings can include facial asymmetry, notched alae nasi, cleft lip and palate, pointed chin, and small, underfolded pinnae. Dental anomalies can include hypodontia, enamel defects, and/or abnormally shaped teeth. Occasional findings include abdominal wall defects, diaphragmatic hernia, and renal anomalies. Psychomotor development is usually normal; some individuals have cognitive impairment and/or behavioral issues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42055">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120519"><div><strong>Nager syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120519</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0265245</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nager syndrome is the prototype for a group of disorders collectively referred to as the acrofacial dysostoses (AFDs), which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of Nager syndrome include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hypoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported. The presence of anterior upper-limb defects and the typical lack of lower-limb involvement distinguishes Nager syndrome from Miller syndrome (263750), another rare AFD; however, distinguishing Nager syndrome from other AFDs, including Miller syndrome, can be challenging (summary by Bernier et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120519">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120540"><div><strong>Pallister-Killian syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120540</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0265449</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pallister-Killian syndrome (PKS) is a dysmorphic condition involving most organ systems, but is also characterized by a tissue-limited mosaicism; most fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. The extra metacentric chromosome is an isochromosome for part of the short arm of chromosome 12: i(12)(p10) (Peltomaki et al., 1987; Warburton et al., 1987).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120540">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120543"><div><strong>Cat eye syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120543</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0265493</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120543">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_96605"><div><strong>Deletion of long arm of chromosome 18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96605</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0432443</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Monosomy 18q is a partial deletion of the long arm of chromosome 18 characterized by highly variable phenotype, most commonly including hypotonia, developmental delay, short stature, growth hormone deficiency, hearing loss and external ear anomalies, intellectual disability, palatal defects, dysmorphic facial features, skeletal anomalies (foot deformities, tapering fingers, scoliosis) and mood disorders.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96605">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_163204"><div><strong>Peters plus syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163204</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0796012</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Peters plus syndrome is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay / intellectual disability. The most common anterior chamber defect is Peters' anomaly, consisting of central corneal clouding, thinning of the posterior cornea, and iridocorneal adhesions. Cataracts and glaucoma are common. Developmental delay is observed in about 80% of children; intellectual disability can range from mild to severe.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163204">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162905"><div><strong>Blepharophimosis - intellectual disability syndrome, Ohdo type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162905</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0796094</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162905">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_230818"><div><strong>Barber-Say syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>230818</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1319466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Barber-Say syndrome (BBRSAY) is a rare congenital condition characterized by severe hypertrichosis, especially of the back, skin abnormalities such as hyperlaxity and redundancy, and facial dysmorphism, including macrostomia, eyelid deformities, ocular telecanthus, abnormal and low-set ears, bulbous nasal tip with hypoplastic alae nasi, and low frontal hairline (summary by Roche et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/230818">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_315656"><div><strong>Rapp-Hodgkin syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>315656</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1785148</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/315656">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_316973"><div><strong>Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>316973</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1832362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/316973">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_331276"><div><strong>Mandibulofacial dysostosis with ptosis, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331276</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1842349</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331276">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_342400"><div><strong>Pelviscapular dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342400</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850040</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cousin syndrome is an autosomal recessive complex cranial, cervical, auricular, and skeletal malformation syndrome with scapular and pelvic hypoplasia (summary by Lausch et al., 2008).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342400">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_408255"><div><strong>4p partial monosomy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>408255</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1956097</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/408255">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_382936"><div><strong>Bilateral microtia-deafness-cleft palate syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382936</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2676772</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382936">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_393758"><div><strong>Oculoauricular syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393758</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2677500</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oculoauricular syndrome (OCACS) is characterized by complex ocular anomalies, including congenital cataract, anterior segment dysgenesis, iris coloboma, and early-onset retinal dystrophy, and dysplastic ears with abnormal external ear cartilage (summary by Gillespie et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393758">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_416693"><div><strong>Zechi-Ceide syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2752047</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/416693">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_443957"><div><strong>COG1 congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>443957</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2931011</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the few cases reported to date, variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/443957">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_422448"><div><strong>Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>422448</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2936791</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis with a broad phenotypic spectrum including cortisol deficiency, altered sex steroid synthesis, disorders of sex development (DSD), and skeletal malformations of the Antley-Bixler syndrome (ABS) phenotype. Cortisol deficiency is usually partial, with some baseline cortisol production but failure to mount an adequate cortisol response in stress. Mild mineralocorticoid excess can be present and causes arterial hypertension, usually presenting in young adulthood. Manifestations of altered sex steroid synthesis include ambiguous genitalia/DSD in both males and females, large ovarian cysts in females, poor masculinization and delayed puberty in males, and maternal virilization during pregnancy with an affected fetus. Skeletal malformations can manifest as craniosynostosis, mid-face retrusion with proptosis and choanal stenosis or atresia, low-set dysplastic ears with stenotic external auditory canals, hydrocephalus, radiohumeral synostosis, neonatal fractures, congenital bowing of the long bones, joint contractures, arachnodactyly, and clubfeet; other anomalies observed include urinary tract anomalies (renal pelvic dilatation, vesicoureteral reflux). Cognitive impairment is of minor concern and likely associated with the severity of malformations; studies of developmental outcomes are lacking.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/422448">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_502760"><div><strong>Atresia of external auditory canal and conductive deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>502760</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3502361</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/502760">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766318"><div><strong>Auriculocondylar syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766318</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3553404</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is a craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012). For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (602483).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766318">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766956"><div><strong>Diamond-Blackfan anemia 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766956</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3554042</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766956">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_785805"><div><strong>Blepharophimosis - intellectual disability syndrome, MKB type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>785805</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3698541</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. HS has been described in females with cleft lip and/or cleft palate, biliary and liver anomalies, intestinal malrotation, pigmentary retinopathy, and coarctation of the aorta. Developmental and cognitive concerns have not been reported in females with HS. Pathogenic variants in MED12 have been reported in an increasing number of males and females with NSID, with affected individuals often having clinical features identified in other MED12-related disorders.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/785805">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816205"><div><strong>Van Maldergem syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816205</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3809875</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Van Maldergem syndrome is an autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia (summary by Cappello et al., 2013). For a discussion of genetic heterogeneity of Van Maldergem syndrome, see 601390.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816205">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816662"><div><strong>Auriculocondylar syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816662</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3810332</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Auriculocondylar syndrome (ARCND) is a rare craniofacial disorder involving first and second pharyngeal arch derivatives and includes the key features of micrognathia, temporomandibular joint and condyle anomalies, microstomia, prominent cheeks, and question mark ears (QMEs). QMEs consist of a defect between the lobe and the upper two-thirds of the pinna, ranging from a mild indentation in the helix to a complete cleft between the lobe and helix (summary by Gordon et al., 2013). For a general phenotypic description and discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (602483).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816662">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_905079"><div><strong>Meier-Gorlin syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>905079</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225188</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/905079">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_898794"><div><strong>Mandibulofacial dysostosis with alopecia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>898794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225349</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare mandibulofacial dysostosis with the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism and eyelid anomalies among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction and conductive hearing loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/898794">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_902755"><div><strong>Diamond-Blackfan anemia 15 with mandibulofacial dysostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902755</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225411</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/902755">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1632634"><div><strong>Branchiootorenal syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632634</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551702</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1632634">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1639644"><div><strong>Auriculocondylar syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1639644</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551996</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Other features of auriculo-condylar syndrome can include prominent cheeks, an unusually small mouth (microstomia), differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry), and an opening in the roof of the mouth (cleft palate). These features vary, even among affected members of the same family.\n\nAbnormalities of the mandible are another characteristic feature of auriculo-condylar syndrome. These abnormalities often include an unusually small chin (micrognathia) and malfunction of the temporomandibular joint (TMJ), which connects the lower jaw to the skull. Problems with the TMJ affect how the upper and lower jaws fit together and can make it difficult to open and close the mouth. The term "condylar" in the name of the condition refers to the mandibular condyle, which is the upper portion of the mandible that forms part of the TMJ.\n\nMost people with auriculo-condylar syndrome have malformed outer ears ("auriculo-" refers to the ears). A hallmark of this condition is an ear abnormality called a "question-mark ear," in which the ears have a distinctive question-mark shape caused by a split that separates the upper part of the ear from the earlobe. Other ear abnormalities that can occur in auriculo-condylar syndrome include cupped ears, ears with fewer folds and grooves than usual (described as "simple"), narrow ear canals, small skin tags in front of or behind the ears, and ears that are rotated backward. Some affected individuals also have hearing loss.\n\nAuriculo-condylar syndrome is a condition that affects facial development, particularly development of the ears and lower jaw (mandible).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1639644">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648389"><div><strong>X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648389</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4746975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
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<div class="spaceAbove">X-linked deafness-7 (DFNX7) is a congenital form of bilateral mixed or conductive hearing loss, which may be progressive. It is not associated with vestibular symptoms (Xing et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648389">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1742639"><div><strong>Kilquist syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1742639</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5436756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Kilquist syndrome (KILQS) is an autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis (CF; 219700) (summary by Stodberg et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1742639">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794275"><div><strong>Ferguson-Bonni neurodevelopmental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794275</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5562065</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ferguson-Bonni neurodevelopmental syndrome (FERBON) is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, and hypotonia with early motor delay. Additional features may include dysmorphic facies, mild skeletal abnormalities, and hearing loss (summary by Ferguson et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794275">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1857550"><div><strong>Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1857550</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5935629</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities (NEDHFDB) is an autosomal recessive disorder characterized by poor overall growth apparent from infancy, global developmental delay with motor delay, and severely impaired intellectual development with poor or absent speech. Additional features include feeding difficulties, dysmorphic facies, variable congenital heart defects, and brain imaging abnormalities, usually hypoplasia of the corpus callosum (Engal et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1857550">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_408255" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">4p partial monosomy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_41345" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">5p partial monosomy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_316973" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_422448" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_502760" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atresia of external auditory canal and conductive deafness</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (34)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1639644" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Auriculocondylar syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Auriculocondylar syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816662" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Auriculocondylar syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_230818" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Barber-Say syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382936" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral microtia-deafness-cleft palate syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_785805" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blepharophimosis - intellectual disability syndrome, MKB type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162905" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blepharophimosis - intellectual disability syndrome, Ohdo type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1632634" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Branchiootorenal syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120543" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cat eye syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_443957" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">COG1 congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96605" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deletion of long arm of chromosome 18</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766956" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902755" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 15 with mandibulofacial dysostosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794275" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ferguson-Bonni neurodevelopmental syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_42055" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal dermal hypoplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1742639" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kilquist syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_898794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibulofacial dysostosis with alopecia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331276" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibulofacial dysostosis with ptosis, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_905079" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meier-Gorlin syndrome 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120519" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nager syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1857550" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_393758" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculoauricular syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120540" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pallister-Killian syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342400" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pelviscapular dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163204" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peters plus syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_315656" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rapp-Hodgkin syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816205" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Van Maldergem syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648389" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_416693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Zechi-Ceide 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/38250795">Diagnosis and treatment of congenital stenosis of external auditory canal with external auditory canal cholesteatoma complicated with exudative effusion in the middle ear and mastoid process.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qiu W,
|
||
Chen P,
|
||
Lv M,
|
||
Zhu J,
|
||
Wang Y,
|
||
Zhao S</span><br />
|
||
<span class="medgenPMjournal">Acta Otolaryngol</span>
|
||
2023 Nov-Dec;143(11-12):940-945.
|
||
Epub 2024 Jan 26
|
||
doi: 10.1080/00016489.2023.2299689.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38250795" target="_blank">38250795</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8072350">Otological and habilitative management of children with Down syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pappas DG,
|
||
Flexer C,
|
||
Shackelford L</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
1994 Sep;104(9):1065-70.
|
||
doi: 10.1288/00005537-199409000-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8072350" target="_blank">8072350</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3053825">Neoplasms of the conchal bowl: treatment with Mohs micrographic surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clark DP,
|
||
Hanke CW</span><br />
|
||
<span class="medgenPMjournal">J Dermatol Surg Oncol</span>
|
||
1988 Nov;14(11):1223-8.
|
||
doi: 10.1111/j.1524-4725.1988.tb03479.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3053825" target="_blank">3053825</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22stenosis%20of%20the%20external%20auditory%20canal%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 (3)</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/35439089">Cholesteatoma in Congenital Aural Atresia and External Auditory Canal Stenosis: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chan CY,
|
||
Karmali SA,
|
||
Arulanandam B,
|
||
Nguyen LHP,
|
||
Duval M</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
2023 Sep;169(3):449-453.
|
||
Epub 2022 Apr 18
|
||
doi: 10.1177/01945998221094230.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35439089" target="_blank">35439089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35104038">Misdiagnosis of congenital aural atresia with temporomandibular joint retroposition as congenital external auditory canal stenosis with cholesteatoma: A retrospective study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang L,
|
||
Chen P,
|
||
Liu Y,
|
||
Wang D,
|
||
Zhang N,
|
||
Zou Q,
|
||
Zhao S</span><br />
|
||
<span class="medgenPMjournal">Clin Otolaryngol</span>
|
||
2022 May;47(3):478-482.
|
||
Epub 2022 Feb 11
|
||
doi: 10.1111/coa.13914.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35104038" target="_blank">35104038</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32330680">Endoscopic transcanal removal of external auditory canal osteomas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen CK,
|
||
Chang KP,
|
||
Chien CY,
|
||
Hsieh LC</span><br />
|
||
<span class="medgenPMjournal">Biomed J</span>
|
||
2021 Aug;44(4):489-494.
|
||
Epub 2020 Apr 21
|
||
doi: 10.1016/j.bj.2020.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32330680" target="_blank">32330680</a><a href="/pmc/articles/PMC8514792" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29852809">Acquired stenosis of the external auditory canal - long-term results and patient satisfaction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwarz D,
|
||
Luers JC,
|
||
Huttenbrink KB,
|
||
Stuermer KJ</span><br />
|
||
<span class="medgenPMjournal">Acta Otolaryngol</span>
|
||
2018 Sep;138(9):790-794.
|
||
Epub 2018 May 31
|
||
doi: 10.1080/00016489.2018.1476779.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29852809" target="_blank">29852809</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28045591">Clinical Practice Guideline (Update): Earwax (Cerumen Impaction).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwartz SR,
|
||
Magit AE,
|
||
Rosenfeld RM,
|
||
Ballachanda BB,
|
||
Hackell JM,
|
||
Krouse HJ,
|
||
Lawlor CM,
|
||
Lin K,
|
||
Parham K,
|
||
Stutz DR,
|
||
Walsh S,
|
||
Woodson EA,
|
||
Yanagisawa K,
|
||
Cunningham ER Jr</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
2017 Jan;156(1_suppl):S1-S29.
|
||
doi: 10.1177/0194599816671491.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28045591" target="_blank">28045591</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stenosis%20of%20the%20external%20auditory%20canal%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 (205)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37553271">Acquired Stenosis of the External Ear Canal.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mankekar G,
|
||
Entezami P</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Clin North Am</span>
|
||
2023 Oct;56(5):919-931.
|
||
Epub 2023 Aug 6
|
||
doi: 10.1016/j.otc.2023.06.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37553271" target="_blank">37553271</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37537101">Congenital Anomalies of the Ear Canal.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morrison D,
|
||
Kesser B</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Clin North Am</span>
|
||
2023 Oct;56(5):933-948.
|
||
Epub 2023 Aug 1
|
||
doi: 10.1016/j.otc.2023.06.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37537101" target="_blank">37537101</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35439089">Cholesteatoma in Congenital Aural Atresia and External Auditory Canal Stenosis: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chan CY,
|
||
Karmali SA,
|
||
Arulanandam B,
|
||
Nguyen LHP,
|
||
Duval M</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
2023 Sep;169(3):449-453.
|
||
Epub 2022 Apr 18
|
||
doi: 10.1177/01945998221094230.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35439089" target="_blank">35439089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35104038">Misdiagnosis of congenital aural atresia with temporomandibular joint retroposition as congenital external auditory canal stenosis with cholesteatoma: A retrospective study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang L,
|
||
Chen P,
|
||
Liu Y,
|
||
Wang D,
|
||
Zhang N,
|
||
Zou Q,
|
||
Zhao S</span><br />
|
||
<span class="medgenPMjournal">Clin Otolaryngol</span>
|
||
2022 May;47(3):478-482.
|
||
Epub 2022 Feb 11
|
||
doi: 10.1111/coa.13914.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35104038" target="_blank">35104038</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28045591">Clinical Practice Guideline (Update): Earwax (Cerumen Impaction).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwartz SR,
|
||
Magit AE,
|
||
Rosenfeld RM,
|
||
Ballachanda BB,
|
||
Hackell JM,
|
||
Krouse HJ,
|
||
Lawlor CM,
|
||
Lin K,
|
||
Parham K,
|
||
Stutz DR,
|
||
Walsh S,
|
||
Woodson EA,
|
||
Yanagisawa K,
|
||
Cunningham ER Jr</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
2017 Jan;156(1_suppl):S1-S29.
|
||
doi: 10.1177/0194599816671491.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28045591" target="_blank">28045591</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stenosis%20of%20the%20external%20auditory%20canal%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 (146)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29940693">Iatrogenic external auditory canal stenosis induced by silver nitrate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mikals SJ,
|
||
Huang Z,
|
||
Reilly BK,
|
||
Monfared A</span><br />
|
||
<span class="medgenPMjournal">Ear Nose Throat J</span>
|
||
2018 Apr-May;97(4-5):E39-E40.
|
||
doi: 10.1177/0145561318097004-504.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29940693" target="_blank">29940693</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28045591">Clinical Practice Guideline (Update): Earwax (Cerumen Impaction).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwartz SR,
|
||
Magit AE,
|
||
Rosenfeld RM,
|
||
Ballachanda BB,
|
||
Hackell JM,
|
||
Krouse HJ,
|
||
Lawlor CM,
|
||
Lin K,
|
||
Parham K,
|
||
Stutz DR,
|
||
Walsh S,
|
||
Woodson EA,
|
||
Yanagisawa K,
|
||
Cunningham ER Jr</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
2017 Jan;156(1_suppl):S1-S29.
|
||
doi: 10.1177/0194599816671491.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28045591" target="_blank">28045591</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27755370">Outcomes of Drill Canalplasty in Exostoses and Osteoma: Analysis of 256 Cases and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grinblat G,
|
||
Prasad SC,
|
||
Piras G,
|
||
He J,
|
||
Taibah A,
|
||
Russo A,
|
||
Sanna M</span><br />
|
||
<span class="medgenPMjournal">Otol Neurotol</span>
|
||
2016 Dec;37(10):1565-1572.
|
||
doi: 10.1097/MAO.0000000000001239.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27755370" target="_blank">27755370</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26381006">Management of Acquired Atresia of the External Auditory Canal.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bajin MD,
|
||
Yılmaz T,
|
||
Günaydın RÖ,
|
||
Kuşçu O,
|
||
Sözen T,
|
||
Jafarov S</span><br />
|
||
<span class="medgenPMjournal">J Int Adv Otol</span>
|
||
2015 Aug;11(2):147-50.
|
||
doi: 10.5152/iao.2015.461.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26381006" target="_blank">26381006</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25912684">A meta-analysis of the long-term hearing outcomes and complications associated with atresiaplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li CL,
|
||
Dai PD,
|
||
Yang L,
|
||
Zhang TY</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2015 Jun;79(6):793-797.
|
||
Epub 2015 Apr 9
|
||
doi: 10.1016/j.ijporl.2015.03.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25912684" target="_blank">25912684</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stenosis%20of%20the%20external%20auditory%20canal%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 (51)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38241581">Clinical characteristics of intradermal nevus in the external auditory canal.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim YH</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2024 Jan 19;103(3):e36765.
|
||
doi: 10.1097/MD.0000000000036765.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38241581" target="_blank">38241581</a><a href="/pmc/articles/PMC10798780" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38113167">Relationship between congenital malformation of the outer ear and hearing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang H,
|
||
Han Z,
|
||
Li Y,
|
||
Lin J,
|
||
Zou Y</span><br />
|
||
<span class="medgenPMjournal">Acta Otolaryngol</span>
|
||
2023 Nov;143(sup1):S45-S48.
|
||
Epub 2024 Feb 13
|
||
doi: 10.1080/00016489.2023.2281504.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38113167" target="_blank">38113167</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29852809">Acquired stenosis of the external auditory canal - long-term results and patient satisfaction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwarz D,
|
||
Luers JC,
|
||
Huttenbrink KB,
|
||
Stuermer KJ</span><br />
|
||
<span class="medgenPMjournal">Acta Otolaryngol</span>
|
||
2018 Sep;138(9):790-794.
|
||
Epub 2018 May 31
|
||
doi: 10.1080/00016489.2018.1476779.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29852809" target="_blank">29852809</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27576514">Postinflammatory medial canal fibrosis: An institutional review and meta-analysis of short- and long-term outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keller RG,
|
||
Ong AA,
|
||
Nguyen SA,
|
||
O'Connell BP,
|
||
Lambert PR</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2017 Feb;127(2):488-495.
|
||
Epub 2016 Aug 31
|
||
doi: 10.1002/lary.26214.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27576514" target="_blank">27576514</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17472683">Unusual clinical presentation of amyloidosis: bilateral stenosis of the external auditory canal, hoarseness and a rapid course of cutaneous lesions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alvarez-Ruiz SB,
|
||
Pérez-Gala S,
|
||
Aragüés M,
|
||
Fraga J,
|
||
García-Díez A</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2007 May;46(5):503-4.
|
||
doi: 10.1111/j.1365-4632.2006.03030.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17472683" target="_blank">17472683</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stenosis%20of%20the%20external%20auditory%20canal%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 (85)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38241581">Clinical characteristics of intradermal nevus in the external auditory canal.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim YH</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2024 Jan 19;103(3):e36765.
|
||
doi: 10.1097/MD.0000000000036765.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38241581" target="_blank">38241581</a><a href="/pmc/articles/PMC10798780" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38113167">Relationship between congenital malformation of the outer ear and hearing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang H,
|
||
Han Z,
|
||
Li Y,
|
||
Lin J,
|
||
Zou Y</span><br />
|
||
<span class="medgenPMjournal">Acta Otolaryngol</span>
|
||
2023 Nov;143(sup1):S45-S48.
|
||
Epub 2024 Feb 13
|
||
doi: 10.1080/00016489.2023.2281504.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38113167" target="_blank">38113167</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34810109">Associations between condylar fractures and external auditory canal fracture: A 7-year retrospective study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang Y,
|
||
Jiang C,
|
||
Huang X,
|
||
Huang J,
|
||
Shi B,
|
||
Zhu X,
|
||
Lin L,
|
||
Huang L</span><br />
|
||
<span class="medgenPMjournal">J Craniomaxillofac Surg</span>
|
||
2022 Feb;50(2):140-145.
|
||
Epub 2021 Nov 16
|
||
doi: 10.1016/j.jcms.2021.11.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34810109" target="_blank">34810109</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29852809">Acquired stenosis of the external auditory canal - long-term results and patient satisfaction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwarz D,
|
||
Luers JC,
|
||
Huttenbrink KB,
|
||
Stuermer KJ</span><br />
|
||
<span class="medgenPMjournal">Acta Otolaryngol</span>
|
||
2018 Sep;138(9):790-794.
|
||
Epub 2018 May 31
|
||
doi: 10.1080/00016489.2018.1476779.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29852809" target="_blank">29852809</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29335001">Different clinical presentation and management of temporal bone fibrous dysplasia in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mierzwiński J,
|
||
Kosowska J,
|
||
Tyra J,
|
||
Haber K,
|
||
Drela M,
|
||
Paczkowski D,
|
||
Burduk P</span><br />
|
||
<span class="medgenPMjournal">World J Surg Oncol</span>
|
||
2018 Jan 15;16(1):5.
|
||
doi: 10.1186/s12957-017-1302-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29335001" target="_blank">29335001</a><a href="/pmc/articles/PMC5769533" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stenosis%20of%20the%20external%20auditory%20canal%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 (81)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36635864">Complication Rates in Osteotome and Drill Techniques in External Auditory Canal Exostoses: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Swisher AR,
|
||
Singh P,
|
||
Debbaneh P,
|
||
Rivero A</span><br />
|
||
<span class="medgenPMjournal">Ann Otol Rhinol Laryngol</span>
|
||
2023 Oct;132(10):1249-1260.
|
||
Epub 2023 Jan 12
|
||
doi: 10.1177/00034894221147804.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36635864" target="_blank">36635864</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35439089">Cholesteatoma in Congenital Aural Atresia and External Auditory Canal Stenosis: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chan CY,
|
||
Karmali SA,
|
||
Arulanandam B,
|
||
Nguyen LHP,
|
||
Duval M</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
2023 Sep;169(3):449-453.
|
||
Epub 2022 Apr 18
|
||
doi: 10.1177/01945998221094230.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35439089" target="_blank">35439089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27576514">Postinflammatory medial canal fibrosis: An institutional review and meta-analysis of short- and long-term outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keller RG,
|
||
Ong AA,
|
||
Nguyen SA,
|
||
O'Connell BP,
|
||
Lambert PR</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2017 Feb;127(2):488-495.
|
||
Epub 2016 Aug 31
|
||
doi: 10.1002/lary.26214.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27576514" target="_blank">27576514</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24005171">Hearing outcomes of atresia surgery versus osseointegrated bone conduction device in patients with congenital aural atresia: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nadaraja GS,
|
||
Gurgel RK,
|
||
Kim J,
|
||
Chang KW</span><br />
|
||
<span class="medgenPMjournal">Otol Neurotol</span>
|
||
2013 Oct;34(8):1394-9.
|
||
doi: 10.1097/MAO.0b013e3182a36065.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24005171" target="_blank">24005171</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stenosis%20of%20the%20external%20auditory%20canal%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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|
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|
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<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0395837%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C0395837%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0395837%5bDISCUI%5d" target="_blank">See all (5)</a></total></li>
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</ul></div>
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Stenosis%20of%20the%20external%20auditory%20canal" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22stenosis%20of%20the%20external%20auditory%20canal%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Stenosis%20of%20the%20external%20auditory%20canal%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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</div>
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<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Stenosis%20of%20the%20external%20auditory%20canal" target="_blank">MedlinePlus</a></li></ul></div>
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</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
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<div class="portlet_title">
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<h3>Reviews</h3>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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</div>
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<div class="portlet_content">
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<ul>
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<li>
|
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<a href="/pubmed/clinical?term=Stenosis%20of%20the%20external%20auditory%20canal" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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</li>
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<li>
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<a href="/pubmed?term=Stenosis%20of%20the%20external%20auditory%20canal%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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</li>
|
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</ul>
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|
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<!-- MedGen supplemental column ends here -->
|
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<div class="portlet brieflink">
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||
<div class="portlet_head">
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<div class="portlet_title">
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<h3>Related information</h3>
|
||
</div>
|
||
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</div>
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<div class="portlet_content DiscoveryDbLinks">
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<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=140758" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0395837[DISCUI]" ref="log$=recordlinks">GTR</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0395837[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=140758" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=140758" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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||
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||
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|
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|
||
|
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||
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<div class="portlet_title">
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<h3>Recent activity</h3>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
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<div id="HTDisplay" class="">
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<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
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<div class="action">
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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Clear
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</a>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn Off
|
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|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn On
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</a>
|
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</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d4f91567c23b31e01ce331">Stenosis of the external auditory canal</a>
|
||
<div class="ralinkpop offscreen_noflow">Stenosis of the external auditory canal<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
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</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
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||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d4f914cde49f3df7440ea6">Finger aplasia</a>
|
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<div class="ralinkpop offscreen_noflow">Finger aplasia<div class="brieflinkpopdesc"></div></div>
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||
<div class="tertiary">MedGen</div>
|
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</li>
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||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d4f91184f3725e59a2e955">Foot oligodactyly</a>
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