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<meta name="keywords" content="C4025860, abnormal hearing, finding, hearing abnormality, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="An abnormality of the sensory perception of sound." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=871365
|
||
ConceptID=C4025860
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hearing abnormality</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871365</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:">C4025860</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Abnormal hearing</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:0000364">HP:0000364</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 abnormality of the sensory perception of sound. [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=C4025860[DISCUI]&test_type=Clinical" ref="ncbi_uid=871365">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=871365" ref="ncbi_uid=871365">V</a></span></span><span class="TLline">Hearing abnormality</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 Abnormality of the ear">Abnormality of the ear</a></span><ul><li><span class="TLline"><a href="/medgen/1631982" ref="tree=MeSH" title="MedGen record for Abnormal ear physiology">Abnormal ear physiology</a></span><ul><li><span class="matched_ds">Hearing abnormality</span><ul><li><span class="TLline"><a href="/medgen/322986" ref="tree=MeSH" title="MedGen record for Abnormal speech discrimination">Abnormal speech discrimination</a></span></li><li><span class="TLline"><a href="/medgen/1864047" ref="tree=MeSH" title="MedGen record for Autophony">Autophony</a></span></li><li><span class="TLline"><a href="/medgen/235586" ref="tree=MeSH" title="MedGen record for Hearing impairment">Hearing impairment</a></span><ul><li><span class="TLline"><a href="/medgen/868697" ref="tree=MeSH" title="MedGen record for Aminoglycoside-induced hearing loss">Aminoglycoside-induced hearing loss</a></span></li><li><span class="TLline"><a href="/medgen/9161" ref="tree=MeSH" title="MedGen record for Bilateral hearing loss">Bilateral hearing loss</a></span></li><li><span class="TLline"><a href="/medgen/9163" ref="tree=MeSH" title="MedGen record for Conductive hearing impairment">Conductive hearing impairment</a></span><ul><li><span class="TLline"><a href="/medgen/99093" ref="tree=MeSH" title="MedGen record for Bilateral conductive hearing impairment">Bilateral conductive hearing impairment</a></span></li><li><span class="TLline"><a href="/medgen/867179" ref="tree=MeSH" title="MedGen record for Congenital conductive hearing impairment">Congenital conductive hearing impairment</a></span></li><li><span class="TLline"><a href="/medgen/350007" ref="tree=MeSH" title="MedGen record for Progressive conductive hearing impairment">Progressive conductive hearing impairment</a></span></li><li><span class="TLline"><a href="/medgen/868037" ref="tree=MeSH" title="MedGen record for Unilateral conductive hearing impairment">Unilateral conductive hearing impairment</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/4155" ref="tree=MeSH" title="MedGen record for Deafness">Deafness</a></span><ul><li><span class="TLline"><a href="/medgen/376173" ref="tree=MeSH" title="MedGen record for Autosomal dominant nonsyndromic hearing loss 36">Autosomal dominant nonsyndromic hearing loss 36</a></span></li><li><span class="TLline"><a href="/medgen/330834" ref="tree=MeSH" title="MedGen record for Autosomal dominant nonsyndromic hearing loss 41">Autosomal dominant nonsyndromic hearing loss 41</a></span></li><li><span class="TLline"><a href="/medgen/761234" ref="tree=MeSH" title="MedGen record for Autosomal recessive nonsyndromic hearing loss 4">Autosomal recessive nonsyndromic hearing loss 4</a></span></li><li><span class="TLline"><a href="/medgen/342839" ref="tree=MeSH" title="MedGen record for Autosomal recessive nonsyndromic hearing loss 28">Autosomal recessive nonsyndromic hearing loss 28</a></span></li><li><span class="TLline"><a href="/medgen/374909" ref="tree=MeSH" title="MedGen record for Autosomal recessive nonsyndromic hearing loss 39">Autosomal recessive nonsyndromic hearing loss 39</a></span></li><li><span class="TLline"><a href="/medgen/346670" ref="tree=MeSH" title="MedGen record for Autosomal recessive nonsyndromic hearing loss 49">Autosomal recessive nonsyndromic hearing loss 49</a></span></li><li><span class="TLline"><a href="/medgen/777106" ref="tree=MeSH" title="MedGen record for Bilateral deafness">Bilateral deafness</a></span></li><li><span class="TLline"><a href="/medgen/108418" ref="tree=MeSH" title="MedGen record for Complete deafness">Complete deafness</a></span></li><li><span class="TLline"><a href="/medgen/408188" ref="tree=MeSH" title="MedGen record for Deaf-Blind Disorders">Deaf-Blind Disorders</a></span></li><li><span class="TLline"><a href="/medgen/1793876" ref="tree=MeSH" title="MedGen record for Deafness due to Connexin 26 Gene Anomaly">Deafness due to Connexin 26 Gene Anomaly</a></span></li><li><span class="TLline"><a href="/medgen/501251" ref="tree=MeSH" title="MedGen record for Deafness, Autosomal Recessive 36">Deafness, Autosomal Recessive 36</a></span></li><li><span class="TLline"><a href="/medgen/335096" ref="tree=MeSH" title="MedGen record for Deafness, X-linked 5">Deafness, X-linked 5</a></span></li><li><span class="TLline"><a href="/medgen/376307" ref="tree=MeSH" title="MedGen record for Hearing loss, X-linked 4">Hearing loss, X-linked 4</a></span></li><li><span class="TLline"><a href="/medgen/1651816" ref="tree=MeSH" title="MedGen record for Mitochondrially Inherited Nonsyndromic Sensorineural Deafness">Mitochondrially Inherited Nonsyndromic Sensorineural Deafness</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/854601" ref="tree=MeSH" title="MedGen record for Hearing loss">Hearing loss</a></span><ul><li><span class="TLline"><a href="/medgen/9162" ref="tree=MeSH" title="MedGen record for Central hearing loss">Central hearing loss</a></span></li><li><span class="TLline"><a href="/medgen/42358" ref="tree=MeSH" title="MedGen record for High-frequency hearing impairment">High-frequency hearing impairment</a></span></li><li><span class="TLline"><a href="/medgen/75753" ref="tree=MeSH" title="MedGen record for Low-frequency hearing loss">Low-frequency hearing loss</a></span></li><li><span class="TLline"><a href="/medgen/102336" ref="tree=MeSH" title="MedGen record for Mixed hearing impairment">Mixed hearing impairment</a></span></li><li><span class="TLline"><a href="/medgen/105487" ref="tree=MeSH" title="MedGen record for Neonatal hearing loss">Neonatal hearing loss</a></span></li><li><span class="TLline"><a href="/medgen/5455" ref="tree=MeSH" title="MedGen record for Noise induced hearing loss">Noise induced hearing loss</a></span></li><li><span class="TLline"><a href="/medgen/10911" ref="tree=MeSH" title="MedGen record for Old-aged sensorineural hearing impairment">Old-aged sensorineural hearing impairment</a></span></li><li><span class="TLline"><a href="/medgen/5453" ref="tree=MeSH" title="MedGen record for Partial deafness">Partial deafness</a></span></li><li><span class="TLline"><a href="/medgen/5454" ref="tree=MeSH" title="MedGen record for Psychogenic deafness">Psychogenic deafness</a></span></li><li><span class="TLline"><a href="/medgen/9164" ref="tree=MeSH" title="MedGen record for Sensorineural hearing impairment">Sensorineural hearing impairment</a></span></li><li><span class="TLline"><a href="/medgen/306387" ref="tree=MeSH" title="MedGen record for Sensory hearing loss">Sensory hearing loss</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868329" ref="tree=MeSH" title="MedGen record for Mid-frequency hearing loss">Mid-frequency hearing loss</a></span></li><li><span class="TLline"><a href="/medgen/868364" ref="tree=MeSH" title="MedGen record for Mild hearing impairment">Mild hearing impairment</a></span><ul><li><span class="TLline"><a href="/medgen/867178" ref="tree=MeSH" title="MedGen record for Mild conductive hearing impairment">Mild conductive hearing impairment</a></span></li><li><span class="TLline"><a href="/medgen/867180" ref="tree=MeSH" title="MedGen record for Mild neurosensory hearing impairment">Mild neurosensory hearing impairment</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868363" ref="tree=MeSH" title="MedGen record for Moderate hearing impairment">Moderate hearing impairment</a></span><ul><li><span class="TLline"><a href="/medgen/866728" ref="tree=MeSH" title="MedGen record for Moderate conductive hearing impairment">Moderate conductive hearing impairment</a></span></li><li><span class="TLline"><a href="/medgen/893142" ref="tree=MeSH" title="MedGen record for Moderate sensorineural hearing impairment">Moderate sensorineural hearing impairment</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/353964" ref="tree=MeSH" title="MedGen record for Neonatal Hearing Impairment">Neonatal Hearing Impairment</a></span></li><li><span class="TLline"><a href="/medgen/868362" ref="tree=MeSH" title="MedGen record for Profound hearing impairment">Profound hearing impairment</a></span><ul><li><span class="TLline"><a href="/medgen/868926" ref="tree=MeSH" title="MedGen record for Profound sensorineural hearing impairment">Profound sensorineural hearing impairment</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/331224" ref="tree=MeSH" title="MedGen record for Progressive hearing impairment">Progressive hearing impairment</a></span><ul><li><span class="TLline"><a href="/medgen/335894" ref="tree=MeSH" title="MedGen record for Progressive sensorineural hearing impairment">Progressive sensorineural hearing impairment</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/846511" ref="tree=MeSH" title="MedGen record for Severe hearing impairment">Severe hearing impairment</a></span><ul><li><span class="TLline"><a href="/medgen/866727" ref="tree=MeSH" title="MedGen record for Severe conductive hearing impairment">Severe conductive hearing impairment</a></span></li><li><span class="TLline"><a href="/medgen/867175" ref="tree=MeSH" title="MedGen record for Severe sensorineural hearing impairment">Severe sensorineural hearing impairment</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/41426" ref="tree=MeSH" title="MedGen record for Sudden hearing loss disorder">Sudden hearing loss disorder</a></span></li><li><span class="TLline"><a href="/medgen/868330" ref="tree=MeSH" title="MedGen record for Transient hearing impairment">Transient hearing impairment</a></span></li><li><span class="TLline"><a href="/medgen/435850" ref="tree=MeSH" title="MedGen record for Unilateral deafness">Unilateral deafness</a></span></li><li><span class="TLline"><a href="/medgen/105486" ref="tree=MeSH" title="MedGen record for Unilateral Hearing Loss">Unilateral Hearing Loss</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/52760" ref="tree=MeSH" title="MedGen record for Tinnitus">Tinnitus</a></span><ul><li><span class="TLline"><a href="/medgen/1720225" ref="tree=MeSH" title="MedGen record for Cisplatin-Induced Tinnitus">Cisplatin-Induced Tinnitus</a></span></li><li><span class="TLline"><a href="/medgen/105488" ref="tree=MeSH" title="MedGen record for Clicking tinnitus">Clicking tinnitus</a></span></li><li><span class="TLline"><a href="/medgen/148340" ref="tree=MeSH" title="MedGen record for Pulsatile tinnitus">Pulsatile tinnitus</a></span></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">
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<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>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_342431"><div><strong>Bruck syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342431</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.">C1850168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Bruck syndrome-1 (BRKS1) is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis (McPherson and Clemens, 1997). Genetic Heterogeneity of Bruck Syndrome Bruck syndrome-2 (BRKS2; 609220) is caused by homozygous mutation in the PLOD2 gene (601865) on chromosome 3q24. Van der Slot et al. (2003) stated that they were unaware of any phenotypic differences between the 2 forms of Bruck syndrome.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/342431">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_343981"><div><strong>Osteogenesis imperfecta type 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343981</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.">C1853162</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by Barnes et al., 2006).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/343981">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_348322"><div><strong>Tarsal-carpal coalition syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348322</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.">C1861305</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Tarsal-carpal coalition syndrome is a rare, inherited bone disorder that affects primarily the hands and feet. Several individual bones make up each wrist (carpal bones) and ankle (tarsal bones). In tarsal-carpal coalition syndrome, the carpal bones fuse together, as do the tarsal bones, which causes stiffness and immobility of the hands and feet. Symptoms of the condition can become apparent in infancy, and they worsen with age. The severity of the symptoms can vary, even among members of the same family.\n\nIn this condition, fusion at the joints between the bones that make up each finger and toe (symphalangism) can also occur. Consequently, the fingers and toes become stiff and difficult to bend. Stiffness of the pinky fingers and toes (fifth digits) is usually noticeable first. The joints at the base of the pinky fingers and toes fuse first, and slowly, the other joints along the length of these digits may also be affected. Progressively, the bones in the fourth, third, and second digits (the ring finger, middle finger, and forefinger, and the corresponding toes) become fused. The thumb and big toe are usually not involved. Affected individuals have increasing trouble forming a fist, and walking often becomes painful and difficult. Occasionally, there is also fusion of bones in the upper and lower arm at the elbow joint (humeroradial fusion). Less common features of tarsal-carpal coalition syndrome include short stature or the development of hearing loss.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/348322">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_356655"><div><strong>Flat face-microstomia-ear anomaly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356655</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.">C1866962</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of dysmorphic facial features including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/356655">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_440568"><div><strong>Hypotrichosis 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>440568</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.">C2748535</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Hypotrichosis-5 (HYPT5), also known as Marie Unna hereditary hypotrichosis-2 (MUHH2), is a form of hereditary hypotrichosis characterized by twisting hair. Affected individuals have little or no scalp hair at birth, wiry and irregular scalp hair in childhood, and sparse or no forehead and parietal hair at puberty. Eyebrows and eyelashes are thin, and pubic and axillary hair fails to develop. Scarring alopecia is modest, and vertex hair is normal (summary by Zhang et al., 2012). For a general phenotypic description of Marie Unna hereditary hypotrichosis, see MUHH1 (146550). For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see 605389.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/440568">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_411238"><div><strong>Question mark ears, isolated</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>411238</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.">C2748545</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Question mark ears (QME) is an auricular abnormality characterized by a cleft between the lobule and the lower part of the helix, sometimes accompanied by a prominent or deficient upper part of the helix, shallow skin dimple on the posterior surface of the ear, or transposition of the ear lobe/antitragus. It is more prevalent among boys than girls (2:1), usually sporadic, and can be unilateral or bilateral (Shkalim et al., 2008).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/411238">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_481882"><div><strong>Hypotrichosis 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481882</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.">C3280252</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/481882">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_482853"><div><strong>Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482853</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.">C3281223</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The phenotypic spectrum associated with biallelic RFC1 AAGGG repeat expansion encompasses a range including (1) typical cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS); (2) cerebellar, sensory, and vestibular impairment; (3) more limited phenotypes involving predominantly or exclusively one of the systems involved in balance control; (4) autonomic dysfunction; and (5) cough. Onset begins after age 35 years. In a retrospective study of 100 affected individuals after ten years of disease duration, two thirds had clinical features of CANVAS; 16 had a complex sensory ataxia with cerebellar or vestibular involvement; and 15 had a sensory neuropathy as the only clinically detectable manifestation.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/482853">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_903845"><div><strong>Osteogenesis imperfecta type 17</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>903845</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.">C4225301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Other types of osteogenesis imperfecta are more severe, causing frequent bone fractures that are present at birth and result from little or no trauma. Additional features of these types can include blue sclerae of the eyes, short stature, curvature of the spine (scoliosis), joint deformities (contractures), hearing loss, respiratory problems, and a disorder of tooth development called dentinogenesis imperfecta. Mobility can be reduced in affected individuals, and some may use a walker or wheelchair. The most severe forms of osteogenesis imperfecta, particularly type II, can include an abnormally small, fragile rib cage and underdeveloped lungs. Infants with these abnormalities may have life-threatening problems with breathing and can die shortly after birth.\n\nOsteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break (fracture) easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.\n\nThere are at least 19 recognized forms of osteogenesis imperfecta, designated type I through type XIX. Several types are distinguished by their signs and symptoms, although their characteristic features overlap. Increasingly, genetic causes are used to define rarer forms of osteogenesis imperfecta. Type I (also known as classic non-deforming osteogenesis imperfecta with blue sclerae) is the mildest form of osteogenesis imperfecta. Type II (also known as perinatally lethal osteogenesis imperfecta) is the most severe. Other types of this condition, including types III (progressively deforming osteogenesis imperfecta) and IV (common variable osteogenesis imperfecta with normal sclerae), have signs and symptoms that fall somewhere between these two extremes.\n\nThe milder forms of osteogenesis imperfecta, including type I, are characterized by bone fractures during childhood and adolescence that often result from minor trauma, such as falling while learning to walk. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and about half develop hearing loss in adulthood. Unlike more severely affected individuals, people with type I are usually of normal or near normal height.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/903845">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1641146"><div><strong>Long QT syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641146</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.">C4551647</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">An autosomal dominant condition caused by mutation(s) in the KCNQ1 gene, encoding potassium voltage-gated channel subfamily KQT member 1. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1641146">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1648329"><div><strong>Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648329</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.">C4748560</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia-14 of the hair/tooth type (ECTD14) is primarily characterized by scalp hypotrichosis and hypodontia. Some patients have decreased sweating, and some show subtle facial dysmorphism (Peled et al., 2016). Rabie et al. (2022) tabulated the features of 24 patients with TSPEAR-associated ectodermal dysplasia, and found that of the various ectodermal derivatives, teeth were the most affected (82.6%), followed by hair (78.3%), nails (43.5%), and sweat glands (39.1%). The authors also noted that TSPEAR-associated dysmorphic facial features varied according to ethnic origin.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1648329">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1781967"><div><strong>Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1781967</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.">C5543020</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Neuronal ceroid lipofuscinosis-15 (CLN15) is characterized by severe global developmental delay apparent in infancy or early childhood. Affected individuals have hypotonia with impaired motor development, respiratory insufficiency, and feeding difficulties requiring intervention. Intellectual and speech development is also delayed, and most have visual defects, including cortical visual blindness, nystagmus, and esotropia. The disorder is progressive, as manifest by developmental regression consistent with neurodegeneration. Although overt seizures are not observed, some patients may have episodic hypertonia or apnea, and EEG may show nonspecific abnormalities. Brain imaging shows unique diffusion restriction signal abnormalities affecting the brainstem, cerebellum, and corticospinal tracts. Early death may occur (summary by Polovitskaya et al., 2020).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1781967">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342431" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bruck syndrome 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482853" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648329" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356655" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Flat face-microstomia-ear anomaly syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_440568" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotrichosis 5</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (12)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481882" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotrichosis 9</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641146" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long QT syndrome 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1781967" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_903845" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta type 17</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343981" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta type 7</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_411238" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Question mark ears, isolated</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348322" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tarsal-carpal coalition syndrome</a></div></span></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/34060792">Tinnitus: Diagnosis and Management.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Dalrymple SN,
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Lewis SH,
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||
Philman S</span><br />
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||
<span class="medgenPMjournal">Am Fam Physician</span>
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||
2021 Jun 1;103(11):663-671.
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||
<span class="bold">PMID: </span><a href="/pubmed/34060792" target="_blank">34060792</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/32712016">Alport Syndrome: Achieving Early Diagnosis and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kashtan CE</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2021 Feb;77(2):272-279.
|
||
Epub 2020 Jul 22
|
||
doi: 10.1053/j.ajkd.2020.03.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32712016" target="_blank">32712016</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31305044">Hearing Loss in Adults: Differential Diagnosis and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Michels TC,
|
||
Duffy MT,
|
||
Rogers DJ</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2019 Jul 15;100(2):98-108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31305044" target="_blank">31305044</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hearing%20abnormality)%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 (554)</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/34710395">Randomized Trial to Increase Speech Sound Differentiation in Infants Born Preterm.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Richard C,
|
||
Jeanvoine A,
|
||
Stark AR,
|
||
Hague K,
|
||
Kjeldsen C,
|
||
Maitre NL</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2022 Feb;241:103-108.e3.
|
||
Epub 2021 Oct 25
|
||
doi: 10.1016/j.jpeds.2021.10.035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34710395" target="_blank">34710395</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33676457">Health study of 11,800 workers under occupational noise in Xinjiang.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao S,
|
||
He D,
|
||
Zhang H,
|
||
Hou T,
|
||
Yang C,
|
||
Ding W,
|
||
He P</span><br />
|
||
<span class="medgenPMjournal">BMC Public Health</span>
|
||
2021 Mar 6;21(1):460.
|
||
doi: 10.1186/s12889-021-10496-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33676457" target="_blank">33676457</a><a href="/pmc/articles/PMC7937221" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32569146">Audiological Findings in Children Suspected to Have Been Exposed to the Zika Virus in the Intrauterine Period.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Faria AOP,
|
||
Miterhof MEVDCR,
|
||
Vianna RAO,
|
||
Carvalho FR,
|
||
Dalcastel LAB,
|
||
Oliveira SA,
|
||
Fonseca SC,
|
||
Riley LW,
|
||
Velarde LGC,
|
||
Cardoso CAA</span><br />
|
||
<span class="medgenPMjournal">Otol Neurotol</span>
|
||
2020 Aug;41(7):e848-e853.
|
||
doi: 10.1097/MAO.0000000000002704.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32569146" target="_blank">32569146</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31344554">Risk factors associated with congenital defects that alter hearing or vision in children born in the city of Bogotá between 2002 and 2016.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manotas M,
|
||
Sarmiento K,
|
||
Ibañez-Morantes A,
|
||
Suárez-Obando F,
|
||
Gelvez N,
|
||
López G,
|
||
Ayala-Ramírez P,
|
||
Angel J,
|
||
Prieto J,
|
||
Tamayo N,
|
||
Puentes S,
|
||
Rodríguez C,
|
||
Tamayo ML,
|
||
Zarante I</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2019 Nov;126:109594.
|
||
Epub 2019 Jul 19
|
||
doi: 10.1016/j.ijporl.2019.109594.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31344554" target="_blank">31344554</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18468850">Peak flow and voice pathology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Phillips PS,
|
||
Hirani SP,
|
||
Epstein R</span><br />
|
||
<span class="medgenPMjournal">J Voice</span>
|
||
2009 Sep;23(5):521-8.
|
||
Epub 2008 May 12
|
||
doi: 10.1016/j.jvoice.2008.01.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18468850" target="_blank">18468850</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hearing%20abnormality%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 (6)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39618220">An Analysis of Hearing Outcomes in Children with Hutchinson-Gilford Progeria Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun J,
|
||
Wang J,
|
||
Bi J</span><br />
|
||
<span class="medgenPMjournal">Br J Hosp Med (Lond)</span>
|
||
2024 Nov 30;85(11):1-16.
|
||
Epub 2024 Nov 18
|
||
doi: 10.12968/hmed.2024.0449.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39618220" target="_blank">39618220</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33676457">Health study of 11,800 workers under occupational noise in Xinjiang.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao S,
|
||
He D,
|
||
Zhang H,
|
||
Hou T,
|
||
Yang C,
|
||
Ding W,
|
||
He P</span><br />
|
||
<span class="medgenPMjournal">BMC Public Health</span>
|
||
2021 Mar 6;21(1):460.
|
||
doi: 10.1186/s12889-021-10496-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33676457" target="_blank">33676457</a><a href="/pmc/articles/PMC7937221" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32569146">Audiological Findings in Children Suspected to Have Been Exposed to the Zika Virus in the Intrauterine Period.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Faria AOP,
|
||
Miterhof MEVDCR,
|
||
Vianna RAO,
|
||
Carvalho FR,
|
||
Dalcastel LAB,
|
||
Oliveira SA,
|
||
Fonseca SC,
|
||
Riley LW,
|
||
Velarde LGC,
|
||
Cardoso CAA</span><br />
|
||
<span class="medgenPMjournal">Otol Neurotol</span>
|
||
2020 Aug;41(7):e848-e853.
|
||
doi: 10.1097/MAO.0000000000002704.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32569146" target="_blank">32569146</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27627852">Severe neonatal CMV infection complicated with thrombotic microangiopathy successfully treated with ganciclovir.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mitsuiki N,
|
||
Tamanuki K,
|
||
Sei K,
|
||
Ito J,
|
||
Kishi A,
|
||
Kobayashi K,
|
||
Hatai Y,
|
||
Nagasawa M</span><br />
|
||
<span class="medgenPMjournal">J Infect Chemother</span>
|
||
2017 Feb;23(2):107-110.
|
||
Epub 2016 Sep 11
|
||
doi: 10.1016/j.jiac.2016.08.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27627852" target="_blank">27627852</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8733453">Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Richards A,
|
||
Brain C,
|
||
Dillon MJ,
|
||
Bailey CM</span><br />
|
||
<span class="medgenPMjournal">J Laryngol Otol</span>
|
||
1996 Apr;110(4):328-38.
|
||
doi: 10.1017/s0022215100133560.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8733453" target="_blank">8733453</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hearing%20abnormality%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 (8)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34710395">Randomized Trial to Increase Speech Sound Differentiation in Infants Born Preterm.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Richard C,
|
||
Jeanvoine A,
|
||
Stark AR,
|
||
Hague K,
|
||
Kjeldsen C,
|
||
Maitre NL</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2022 Feb;241:103-108.e3.
|
||
Epub 2021 Oct 25
|
||
doi: 10.1016/j.jpeds.2021.10.035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34710395" target="_blank">34710395</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33676457">Health study of 11,800 workers under occupational noise in Xinjiang.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao S,
|
||
He D,
|
||
Zhang H,
|
||
Hou T,
|
||
Yang C,
|
||
Ding W,
|
||
He P</span><br />
|
||
<span class="medgenPMjournal">BMC Public Health</span>
|
||
2021 Mar 6;21(1):460.
|
||
doi: 10.1186/s12889-021-10496-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33676457" target="_blank">33676457</a><a href="/pmc/articles/PMC7937221" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27627852">Severe neonatal CMV infection complicated with thrombotic microangiopathy successfully treated with ganciclovir.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mitsuiki N,
|
||
Tamanuki K,
|
||
Sei K,
|
||
Ito J,
|
||
Kishi A,
|
||
Kobayashi K,
|
||
Hatai Y,
|
||
Nagasawa M</span><br />
|
||
<span class="medgenPMjournal">J Infect Chemother</span>
|
||
2017 Feb;23(2):107-110.
|
||
Epub 2016 Sep 11
|
||
doi: 10.1016/j.jiac.2016.08.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27627852" target="_blank">27627852</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10362343">Cisplatin ototoxicity: the importance of baseline audiometry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagy JL,
|
||
Adelstein DJ,
|
||
Newman CW,
|
||
Rybicki LA,
|
||
Rice TW,
|
||
Lavertu P</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Oncol</span>
|
||
1999 Jun;22(3):305-8.
|
||
doi: 10.1097/00000421-199906000-00020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10362343" target="_blank">10362343</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8733453">Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Richards A,
|
||
Brain C,
|
||
Dillon MJ,
|
||
Bailey CM</span><br />
|
||
<span class="medgenPMjournal">J Laryngol Otol</span>
|
||
1996 Apr;110(4):328-38.
|
||
doi: 10.1017/s0022215100133560.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8733453" target="_blank">8733453</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hearing%20abnormality%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/10362343">Cisplatin ototoxicity: the importance of baseline audiometry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagy JL,
|
||
Adelstein DJ,
|
||
Newman CW,
|
||
Rybicki LA,
|
||
Rice TW,
|
||
Lavertu P</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Oncol</span>
|
||
1999 Jun;22(3):305-8.
|
||
doi: 10.1097/00000421-199906000-00020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10362343" target="_blank">10362343</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8733453">Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Richards A,
|
||
Brain C,
|
||
Dillon MJ,
|
||
Bailey CM</span><br />
|
||
<span class="medgenPMjournal">J Laryngol Otol</span>
|
||
1996 Apr;110(4):328-38.
|
||
doi: 10.1017/s0022215100133560.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8733453" target="_blank">8733453</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hearing%20abnormality%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32569146">Audiological Findings in Children Suspected to Have Been Exposed to the Zika Virus in the Intrauterine Period.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Faria AOP,
|
||
Miterhof MEVDCR,
|
||
Vianna RAO,
|
||
Carvalho FR,
|
||
Dalcastel LAB,
|
||
Oliveira SA,
|
||
Fonseca SC,
|
||
Riley LW,
|
||
Velarde LGC,
|
||
Cardoso CAA</span><br />
|
||
<span class="medgenPMjournal">Otol Neurotol</span>
|
||
2020 Aug;41(7):e848-e853.
|
||
doi: 10.1097/MAO.0000000000002704.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32569146" target="_blank">32569146</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23805034">Co-occurrence of m.1555A>G and m.11778G>A mitochondrial DNA mutations in two Indian families with strikingly different clinical penetrance of Leber hereditary optic neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan NA,
|
||
Govindaraj P,
|
||
Jyothi V,
|
||
Meena AK,
|
||
Thangaraj K</span><br />
|
||
<span class="medgenPMjournal">Mol Vis</span>
|
||
2013;19:1282-9.
|
||
Epub 2013 Jun 11
|
||
<span class="bold">PMID: </span><a href="/pubmed/23805034" target="_blank">23805034</a><a href="/pmc/articles/PMC3692426" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10362343">Cisplatin ototoxicity: the importance of baseline audiometry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagy JL,
|
||
Adelstein DJ,
|
||
Newman CW,
|
||
Rybicki LA,
|
||
Rice TW,
|
||
Lavertu P</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Oncol</span>
|
||
1999 Jun;22(3):305-8.
|
||
doi: 10.1097/00000421-199906000-00020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10362343" target="_blank">10362343</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hearing%20abnormality%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 (3)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/38189970">A systematic review of otologic injuries sustained in civilian terrorist explosions.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Debenham L,
|
||
Khan N,
|
||
Nouhan B,
|
||
Muzaffar J</span><br />
|
||
<span class="medgenPMjournal">Eur Arch Otorhinolaryngol</span>
|
||
2024 May;281(5):2223-2233.
|
||
Epub 2024 Jan 8
|
||
doi: 10.1007/s00405-023-08393-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38189970" target="_blank">38189970</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hearing%20abnormality%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 (1)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4025860%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
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<li><a href="/gtr/tests?term=C4025860%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
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