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<meta name="keywords" content="C5394546, disease or syndrome, polr1b, tcs4, treacher collins syndrome 4, treacher-collins syndrome 4, 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="Treacher Collins syndrome (TCS) is characterized by lower eyelid abnormalities, malar hypoplasia, downslanted palpebral fissures, and micro- or retrognathia due to symmetric hypoplasia of the zygomatic bones, maxilla, and mandible. External ear anomalies include absent, small, malformed, and/or posteriorly rotated ears and atresia or stenosis of the external auditory canals. About 40%-50% of individuals have conductive hearing loss attributed most commonly to malformation of the ossicles and hypoplasia of the middle ear cavities. Inner ear structures tend to be normal. Significant respiratory and feeding difficulties can be present in infancy. Other, less common abnormalities include cleft palate and unilateral or bilateral choanal stenosis or atresia. Typically, intellect is normal." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1712280
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ConceptID=C5394546
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Treacher Collins syndrome 4<span class="h1sub">(TCS4)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1712280</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.">C5394546</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>TCS4; TREACHER COLLINS SYNDROME 4</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="POLR1B - ID: 84172 - NCBI Gene" href="/gene/84172" class="medgenPMinfo">POLR1B</a> (2q14.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0030067" target="_blank">MONDO:0030067</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/618939" target="_blank">618939</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1532" target="_blank">Treacher Collins Syndrome</a></div><div>Treacher Collins syndrome (TCS) is characterized by lower eyelid abnormalities, malar hypoplasia, downslanted palpebral fissures, and micro- or retrognathia due to symmetric hypoplasia of the zygomatic bones, maxilla, and mandible. External ear anomalies include absent, small, malformed, and/or posteriorly rotated ears and atresia or stenosis of the external auditory canals. About 40%-50% of individuals have conductive hearing loss attributed most commonly to malformation of the ossicles and hypoplasia of the middle ear cavities. Inner ear structures tend to be normal. Significant respiratory and feeding difficulties can be present in infancy. Other, less common abnormalities include cleft palate and unilateral or bilateral choanal stenosis or atresia. Typically, intellect is normal. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1532#tcs.Summary" target="NBK1532">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1532#tcs.Diagnosis" target="NBK1532">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1532#tcs.Clinical_Characteristics" target="NBK1532">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1532#tcs.Genetically_Related_Allelic_Disorder" target="NBK1532">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1532#tcs.Differential_Diagnosis" target="NBK1532">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1532#tcs.Management" target="NBK1532">Management</a> | <a class="medgenPMinfo" href="/books/NBK1532#tcs.Genetic_Counseling" target="NBK1532">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1532#tcs.Resources" target="NBK1532">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1532#tcs.Molecular_Genetics" target="NBK1532">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1532#tcs.Chapter_Notes" target="NBK1532">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1532#tcs.References" target="NBK1532">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Mafalda Barbosa | Ethylin Wang Jabs | Sara Huston <a href="/books/NBK1532" target="NBK1532" title="NCBI Bookshelf: Treacher Collins Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Treacher Collins syndrome-4 (TCS4) is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia. Most patients have conductive deafness with atretic external ear canals. Choanal atresia and cleft palate have also been observed (Sanchez et al., 2020). <a target="_blank" href="http://www.omim.org/entry/618939">http://www.omim.org/entry/618939</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_436211"><div><strong>Feeding difficulties in infancy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436211</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.">C2674608</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/436211">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%20in%20infancy%22%5BClinical%20Features%5D%20OR%20436211%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9163"><div><strong>Conductive hearing impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9163</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.">C0018777</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9163">Feature record</a> | <a href="/medgen?term=%22Conductive%20hearing%20impairment%22%5BClinical%20Features%5D%20OR%209163%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44428"><div><strong>Micrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44428</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.">C0025990</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental hypoplasia of the mandible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44428">Feature record</a> | <a href="/medgen?term=%22Micrognathia%22%5BClinical%20Features%5D%20OR%2044428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347616"><div><strong>Malar flattening</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347616</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.">C1858085</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347616">Feature record</a> | <a href="/medgen?term=%22Malar%20flattening%22%5BClinical%20Features%5D%20OR%20347616%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</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.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870821"><div><strong>Respiratory failure requiring assisted ventilation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870821</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.">C4025279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870821">Feature record</a> | <a href="/medgen?term=%22Respiratory%20failure%20requiring%20assisted%20ventilation%22%5BClinical%20Features%5D%20OR%20870821%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98391"><div><strong>Downslanted palpebral fissures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98391</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.">C0423110</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The palpebral fissure inclination is more than two standard deviations below the mean.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98391">Feature record</a> | <a href="/medgen?term=%22Downslanted%20palpebral%20fissures%22%5BClinical%20Features%5D%20OR%2098391%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108427"><div><strong>Choanal stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108427</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.">C0584837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal narrowing of the choana (the posterior nasal aperture).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108427">Feature record</a> | <a href="/medgen?term=%22Choanal%20stenosis%22%5BClinical%20Features%5D%20OR%20108427%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_266298"><div><strong>Facial asymmetry</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>266298</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.">C1306710</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal difference between the left and right sides of the face.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/266298">Feature record</a> | <a href="/medgen?term=%22Facial%20asymmetry%22%5BClinical%20Features%5D%20OR%20266298%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373417"><div><strong>Lower eyelid coloboma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373417</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.">C1837826</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A short discontinuity of the margin of the lower eyelid.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373417">Feature record</a> | <a href="/medgen?term=%22Lower%20eyelid%20coloboma%22%5BClinical%20Features%5D%20OR%20373417%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_756015"><div><strong>Cleft palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>756015</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.">C2981150</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/756015">Feature record</a> | <a href="/medgen?term=%22Cleft%20palate%22%5BClinical%20Features%5D%20OR%20756015%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_869865"><div><strong>Preauricular hair displacement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869865</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.">C4024296</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/869865">Feature record</a> | <a href="/medgen?term=%22Preauricular%20hair%20displacement%22%5BClinical%20Features%5D%20OR%20869865%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108427" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choanal stenosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_756015" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleft palate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98391" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Downslanted palpebral fissures</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_266298" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Facial asymmetry</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373417" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lower eyelid coloboma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869865" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Preauricular hair displacement</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_436211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties in infancy</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347616" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malar flattening</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micrognathia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870821" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Respiratory failure requiring assisted ventilation</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9163" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Conductive hearing impairment</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/505796" ref="tree=GTR&ncbi_uid=505796&link_uid=505796" title="View MedGen record for 'Mandibulofacial dysostosis'">Mandibulofacial dysostosis</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4225349[DISCUI]&test_type=Clinical" ref="ncbi_uid=898794">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=898794" target="_blank" href="/omim/131243">O</a></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=898794" ref="ncbi_uid=898794">V</a></span></span><span class="TLline"><a href="/medgen/898794" ref="tree=GTR&ncbi_uid=898794&link_uid=898794" title="View MedGen record for 'Mandibulofacial dysostosis with alopecia'">Mandibulofacial dysostosis with alopecia</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355927" target="_blank" href="/omim/602562">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/355927" ref="tree=GTR&ncbi_uid=355927&link_uid=355927" title="View MedGen record for 'Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome'">Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0242387[DISCUI]&test_type=Clinical" ref="ncbi_uid=66078">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=66078" target="_blank" href="/omim/154500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1532/" ref="ncbi_uid=66078">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=66078" ref="ncbi_uid=66078">V</a></span></span><span class="TLline"><a href="/medgen/66078" ref="tree=GTR&ncbi_uid=66078&link_uid=66078" title="View MedGen record for 'Treacher Collins syndrome'">Treacher Collins syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN315775[DISCUI]&test_type=Clinical" ref="ncbi_uid=994681">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1532/" ref="ncbi_uid=994681">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=994681" ref="ncbi_uid=994681">V</a></span></span><span class="TLline"><a href="/medgen/994681" ref="tree=GTR&ncbi_uid=994681&link_uid=994681" title="View MedGen record for 'Treacher Collins syndrome 1'">Treacher Collins syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150983[DISCUI]&test_type=Clinical" ref="ncbi_uid=462333">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462333" target="_blank" href="/omim/613715">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1532/" ref="ncbi_uid=462333">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462333" ref="ncbi_uid=462333">V</a></span></span><span class="TLline"><a href="/medgen/462333" ref="tree=GTR&ncbi_uid=462333&link_uid=462333" title="View MedGen record for 'Treacher Collins syndrome 2'">Treacher Collins syndrome 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1855433[DISCUI]&test_type=Clinical" ref="ncbi_uid=340868">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340868" target="_blank" href="/omim/248390">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1532/" ref="ncbi_uid=340868">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=340868" ref="ncbi_uid=340868">V</a></span></span><span class="TLline"><a href="/medgen/340868" ref="tree=GTR&ncbi_uid=340868&link_uid=340868" title="View MedGen record for 'Treacher Collins syndrome 3'">Treacher Collins syndrome 3</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5394546[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1712280">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1712280" target="_blank" href="/omim/602000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1532/" ref="ncbi_uid=1712280">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1712280" ref="ncbi_uid=1712280">V</a></span></span><span class="TLline">Treacher Collins syndrome 4</span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1826092" ref="tree=MeSH" title="MedGen record for Branchial arch or oral-acral syndrome">Branchial arch or oral-acral syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/66078" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome">Treacher Collins syndrome</a></span><ul><li><span class="matched_ds">Treacher Collins syndrome 4</span></li></ul></li></ul></li></ul></div></div></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/35382590">Psychosocial and Health-Related Experiences of Individuals With Microtia and Craniofacial Microsomia and Their Families: Narrative Review Over 2 Decades.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johns AL,
|
||
Stock NM,
|
||
Costa B,
|
||
Billaud Feragen K,
|
||
Crerand CE</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
2023 Sep;60(9):1090-1112.
|
||
Epub 2022 Apr 5
|
||
doi: 10.1177/10556656221091699.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35382590" target="_blank">35382590</a><a href="/pmc/articles/PMC10803131" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7335355">Diagnosis and management of airway obstruction in craniofacial anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holinger LD,
|
||
Weiss KS</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Clin North Am</span>
|
||
1981 Nov;14(4):1005-17.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7335355" target="_blank">7335355</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4412188">Bilateral facial microsomia. Diagnosis, classification, treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Converse JM,
|
||
Wood-Smith D,
|
||
McCarthy JG,
|
||
Coccaro PJ,
|
||
Becker MH</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
1974 Oct;54(4):413-23.
|
||
doi: 10.1097/00006534-197410000-00005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4412188" target="_blank">4412188</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(treacher%20collins%20syndrome%204)%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 (13)</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/37247805">Modified Nishida's procedure for esotropia in Duane syndrome associated with Goldenhar syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spierer O</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2023 Aug;27(4):224-226.
|
||
Epub 2023 May 27
|
||
doi: 10.1016/j.jaapos.2023.04.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37247805" target="_blank">37247805</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30817535">Soft Tissue Reconstruction in Patients With Hemifacial Microsomia: A Systematic Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sinclair N,
|
||
Gharb BB,
|
||
Papay F,
|
||
Rampazzo A</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2019 May/Jun;30(3):879-887.
|
||
doi: 10.1097/SCS.0000000000005320.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30817535" target="_blank">30817535</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30670820">Rare ribosomopathies: insights into mechanisms of cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aspesi A,
|
||
Ellis SR</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Cancer</span>
|
||
2019 Apr;19(4):228-238.
|
||
doi: 10.1038/s41568-019-0105-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30670820" target="_blank">30670820</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30396412">Microtia and Related Facial Anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hartzell LD,
|
||
Chinnadurai S</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2018 Dec;45(4):679-697.
|
||
Epub 2018 Sep 18
|
||
doi: 10.1016/j.clp.2018.07.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30396412" target="_blank">30396412</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27712817">Craniofacial Microsomia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brandstetter KA,
|
||
Patel KG</span><br />
|
||
<span class="medgenPMjournal">Facial Plast Surg Clin North Am</span>
|
||
2016 Nov;24(4):495-515.
|
||
doi: 10.1016/j.fsc.2016.06.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27712817" target="_blank">27712817</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Treacher%20Collins%20syndrome%204%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 (214)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30396412">Microtia and Related Facial Anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hartzell LD,
|
||
Chinnadurai S</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2018 Dec;45(4):679-697.
|
||
Epub 2018 Sep 18
|
||
doi: 10.1016/j.clp.2018.07.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30396412" target="_blank">30396412</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27712817">Craniofacial Microsomia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brandstetter KA,
|
||
Patel KG</span><br />
|
||
<span class="medgenPMjournal">Facial Plast Surg Clin North Am</span>
|
||
2016 Nov;24(4):495-515.
|
||
doi: 10.1016/j.fsc.2016.06.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27712817" target="_blank">27712817</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25543163">Nager syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lansinger Y,
|
||
Rayan G</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2015 Apr;40(4):851-4.
|
||
Epub 2014 Dec 24
|
||
doi: 10.1016/j.jhsa.2014.10.064.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25543163" target="_blank">25543163</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19693314">The Twiddling Andersen.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jefferies JL,
|
||
Kim JJ,
|
||
Belmont JW,
|
||
Friedman RA</span><br />
|
||
<span class="medgenPMjournal">Tex Heart Inst J</span>
|
||
2009;36(4):349-51.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19693314" target="_blank">19693314</a><a href="/pmc/articles/PMC2720289" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6024864">Mandibulo-facial dysostosis. (Treacher-Collins syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fazen LE,
|
||
Elmore J,
|
||
Nadler HL</span><br />
|
||
<span class="medgenPMjournal">Am J Dis Child</span>
|
||
1967 Apr;113(4):405-10.
|
||
doi: 10.1001/archpedi.1967.02090190051001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6024864" target="_blank">6024864</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Treacher%20Collins%20syndrome%204%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 (195)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31358401">Red-blue light irradiation in the prevention of surgical wound infection after mandibular distraction using internal distractors in hemifacial microsomia: A randomized trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qiu X,
|
||
Zhou Y,
|
||
Zhou H,
|
||
Chen X,
|
||
Xu H,
|
||
Mooi W,
|
||
Chen W,
|
||
Han W,
|
||
Chai G,
|
||
Yang X,
|
||
Zhang Y</span><br />
|
||
<span class="medgenPMjournal">J Craniomaxillofac Surg</span>
|
||
2019 Sep;47(9):1343-1350.
|
||
Epub 2019 Jul 13
|
||
doi: 10.1016/j.jcms.2019.07.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31358401" target="_blank">31358401</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25772936">Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gordon CT,
|
||
Weaver KN,
|
||
Zechi-Ceide RM,
|
||
Madsen EC,
|
||
Tavares AL,
|
||
Oufadem M,
|
||
Kurihara Y,
|
||
Adameyko I,
|
||
Picard A,
|
||
Breton S,
|
||
Pierrot S,
|
||
Biosse-Duplan M,
|
||
Voisin N,
|
||
Masson C,
|
||
Bole-Feysot C,
|
||
Nitschké P,
|
||
Delrue MA,
|
||
Lacombe D,
|
||
Guion-Almeida ML,
|
||
Moura PP,
|
||
Garib DG,
|
||
Munnich A,
|
||
Ernfors P,
|
||
Hufnagel RB,
|
||
Hopkin RJ,
|
||
Kurihara H,
|
||
Saal HM,
|
||
Weaver DD,
|
||
Katsanis N,
|
||
Lyonnet S,
|
||
Golzio C,
|
||
Clouthier DE,
|
||
Amiel J</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2015 Apr 2;96(4):519-31.
|
||
Epub 2015 Mar 12
|
||
doi: 10.1016/j.ajhg.2015.01.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25772936" target="_blank">25772936</a><a href="/pmc/articles/PMC4385188" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19693314">The Twiddling Andersen.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jefferies JL,
|
||
Kim JJ,
|
||
Belmont JW,
|
||
Friedman RA</span><br />
|
||
<span class="medgenPMjournal">Tex Heart Inst J</span>
|
||
2009;36(4):349-51.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19693314" target="_blank">19693314</a><a href="/pmc/articles/PMC2720289" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11013442">High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Splendore A,
|
||
Silva EO,
|
||
Alonso LG,
|
||
Richieri-Costa A,
|
||
Alonso N,
|
||
Rosa A,
|
||
Carakushanky G,
|
||
Cavalcanti DP,
|
||
Brunoni D,
|
||
Passos-Bueno MR</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2000 Oct;16(4):315-22.
|
||
doi: 10.1002/1098-1004(200010)16:4<315::AID-HUMU4>3.0.CO;2-H.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11013442" target="_blank">11013442</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11873461">Facial asymmetries in hemifacial microsomia, Goldenhar syndrome, and Treacher Collins syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tiner BD,
|
||
Quaroni AL</span><br />
|
||
<span class="medgenPMjournal">Atlas Oral Maxillofac Surg Clin North Am</span>
|
||
1996 Mar;4(1):37-52.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11873461" target="_blank">11873461</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Treacher%20Collins%20syndrome%204%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 (36)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39875538">Pathogenic variants in SHROOM3 associated with hemifacial microsomia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Q,
|
||
Zhang BH,
|
||
Chen Q,
|
||
Fu Y,
|
||
Zuo X,
|
||
Lu P,
|
||
Zhang W,
|
||
Wang B</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2025 Apr;70(4):189-194.
|
||
Epub 2025 Jan 28
|
||
doi: 10.1038/s10038-025-01317-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39875538" target="_blank">39875538</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36658685">Craniocervical Instability in Oculoauriculovertebral Spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gomes LP,
|
||
Ferraz BG,
|
||
Brandão MM,
|
||
Alonso N,
|
||
Pittoli SV,
|
||
Tonello C</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2023 Jun 1;34(4):1283-1286.
|
||
Epub 2023 Jan 20
|
||
doi: 10.1097/SCS.0000000000009192.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36658685" target="_blank">36658685</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33784859">Treacher Collins Syndrome in the United States: Examining Incidence and Inpatient Interventions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reid L,
|
||
Carroll W</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
2021 Nov;58(11):1438-1442.
|
||
Epub 2021 Mar 31
|
||
doi: 10.1177/1055665621998138.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33784859" target="_blank">33784859</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30396412">Microtia and Related Facial Anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hartzell LD,
|
||
Chinnadurai S</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2018 Dec;45(4):679-697.
|
||
Epub 2018 Sep 18
|
||
doi: 10.1016/j.clp.2018.07.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30396412" target="_blank">30396412</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15759264">Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Horiuchi K,
|
||
Ariga T,
|
||
Fujioka H,
|
||
Kawashima K,
|
||
Yamamoto Y,
|
||
Igawa H,
|
||
Sugihara T,
|
||
Sakiyama Y</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2005 May 1;134(4):363-7.
|
||
doi: 10.1002/ajmg.a.30357.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15759264" target="_blank">15759264</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Treacher%20Collins%20syndrome%204%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 (95)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39875538">Pathogenic variants in SHROOM3 associated with hemifacial microsomia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Q,
|
||
Zhang BH,
|
||
Chen Q,
|
||
Fu Y,
|
||
Zuo X,
|
||
Lu P,
|
||
Zhang W,
|
||
Wang B</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2025 Apr;70(4):189-194.
|
||
Epub 2025 Jan 28
|
||
doi: 10.1038/s10038-025-01317-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39875538" target="_blank">39875538</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36317361">A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ulhaq ZS,
|
||
Soraya GV,
|
||
Istifiani LA,
|
||
Pamungkas SA,
|
||
Arisanti D,
|
||
Dini B,
|
||
Astari LF,
|
||
Hasan YTN,
|
||
Ayudianti P,
|
||
Kusuma MAS,
|
||
Shodry S,
|
||
Herawangsa S,
|
||
Nurputra DK,
|
||
Idaiani S,
|
||
Tse WKF</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
2024 Apr;61(4):688-696.
|
||
Epub 2022 Nov 1
|
||
doi: 10.1177/10556656221136177.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36317361" target="_blank">36317361</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36658685">Craniocervical Instability in Oculoauriculovertebral Spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gomes LP,
|
||
Ferraz BG,
|
||
Brandão MM,
|
||
Alonso N,
|
||
Pittoli SV,
|
||
Tonello C</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2023 Jun 1;34(4):1283-1286.
|
||
Epub 2023 Jan 20
|
||
doi: 10.1097/SCS.0000000000009192.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36658685" target="_blank">36658685</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35732499">A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kohailan M,
|
||
Al-Saei O,
|
||
Padmajeya S,
|
||
Aamer W,
|
||
Elbashir N,
|
||
Al-Shabeeb Akil A,
|
||
Kamboh AR,
|
||
Fakhro K</span><br />
|
||
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
|
||
2022 Jun;8(4)
|
||
Epub 2022 Jun 22
|
||
doi: 10.1101/mcs.a006206.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35732499" target="_blank">35732499</a><a href="/pmc/articles/PMC9235844" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32613853">Comparison Between Treacher Collins Syndrome and Pierre Robin Sequence: A Cephalometric Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kato RM,
|
||
Moura PP,
|
||
Zechi-Ceide RM,
|
||
Tonello C,
|
||
Peixoto AP,
|
||
Garib D</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
2021 Jan;58(1):78-83.
|
||
Epub 2020 Jul 2
|
||
doi: 10.1177/1055665620937499.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32613853" target="_blank">32613853</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Treacher%20Collins%20syndrome%204%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 (109)</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/32217034">Ocular and adnexal anomalies in craniofacial microsomia: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rooijers W,
|
||
Caron CJJM,
|
||
Loudon SE,
|
||
Padwa BL,
|
||
Dunaway DJ,
|
||
Forrest CR,
|
||
Koudstaal MJ</span><br />
|
||
<span class="medgenPMjournal">Int J Oral Maxillofac Surg</span>
|
||
2020 Sep;49(9):1107-1114.
|
||
Epub 2020 Mar 23
|
||
doi: 10.1016/j.ijom.2020.03.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32217034" target="_blank">32217034</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30817535">Soft Tissue Reconstruction in Patients With Hemifacial Microsomia: A Systematic Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sinclair N,
|
||
Gharb BB,
|
||
Papay F,
|
||
Rampazzo A</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2019 May/Jun;30(3):879-887.
|
||
doi: 10.1097/SCS.0000000000005320.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30817535" target="_blank">30817535</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29907434">Surgical correction of the midface in craniofacial microsomia. Part 1: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van de Lande LS,
|
||
Pluijmers BI,
|
||
Caron CJJM,
|
||
Wolvius EB,
|
||
Dunaway DJ,
|
||
Koudstaal MJ,
|
||
Padwa BL</span><br />
|
||
<span class="medgenPMjournal">J Craniomaxillofac Surg</span>
|
||
2018 Sep;46(9):1427-1435.
|
||
Epub 2018 May 25
|
||
doi: 10.1016/j.jcms.2018.05.043.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29907434" target="_blank">29907434</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24332589">Mandibular reconstruction in the growing patient with unilateral craniofacial microsomia: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pluijmers BI,
|
||
Caron CJ,
|
||
Dunaway DJ,
|
||
Wolvius EB,
|
||
Koudstaal MJ</span><br />
|
||
<span class="medgenPMjournal">Int J Oral Maxillofac Surg</span>
|
||
2014 Mar;43(3):286-95.
|
||
Epub 2013 Dec 12
|
||
doi: 10.1016/j.ijom.2013.11.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24332589" target="_blank">24332589</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Treacher%20Collins%20syndrome%204%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">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<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=C5394546%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5394546%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=618939" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Treacher%20Collins%20syndrome%204" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<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>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(treacher%20collins%20syndrome%204)%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></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=602000" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=84172[geneid]" target="_blank">View POLR1B variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=618939" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/treacher_collins_syndrome_4" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Treacher%20Collins%20syndrome%204" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16396/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<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>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301704" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Treacher%20Collins%20syndrome%204" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Treacher%20Collins%20syndrome%204%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1712280" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1712280" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C5394546[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C5394546[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1712280" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=1712280" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1712280" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1712280" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=1712280" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=1712280" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=1712280" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<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>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
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</li>
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<li>
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
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||
</li>
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||
<li>
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||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
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||
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||
</div>
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