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<meta name="keywords" content="C3150983, disease or syndrome, polr1d, polr1d treacher-collins syndrome, polr1d-related treacher collins syndrome, tcs2, treacher collins syndrome 2, treacher collins syndrome 2, autosomal recessive, treacher collins syndrome type 2, treacher-collins syndrome caused by mutation in polr1d, 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=462333
|
||
ConceptID=C3150983
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Treacher Collins syndrome 2<span class="h1sub">(TCS2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462333</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:">C3150983</span></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>POLR1D-Related Treacher Collins Syndrome; TCS2; TREACHER COLLINS SYNDROME 2, AUTOSOMAL RECESSIVE</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="POLR1D - ID: 51082 - NCBI Gene" href="/gene/51082" class="medgenPMinfo">POLR1D</a> (13q12.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013385" target="_blank">MONDO:0013385</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/613717" target="_blank">613717</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 is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss (Dauwerse et al., 2011).
|
||
For additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 (154500). <a target="_blank" href="http://www.omim.org/entry/613717">http://www.omim.org/entry/613717</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<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_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_57535"><div><strong>Microtia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57535</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.">C0152423</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the external ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57535">Feature record</a> | <a href="/medgen?term=%22Microtia%22%5BClinical%20Features%5D%20OR%2057535%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_152377"><div><strong>Anotia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>152377</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.">C0702139</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complete absence of any auricular structures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/152377">Feature record</a> | <a href="/medgen?term=%22Anotia%22%5BClinical%20Features%5D%20OR%20152377%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</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.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</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.">C1854301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%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_19766"><div><strong>Retrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19766</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.">C0035353</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality in which the mandible is mislocalised posteriorly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19766">Feature record</a> | <a href="/medgen?term=%22Retrognathia%22%5BClinical%20Features%5D%20OR%2019766%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326907"><div><strong>Microretrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326907</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.">C1839546</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326907">Feature record</a> | <a href="/medgen?term=%22Microretrognathia%22%5BClinical%20Features%5D%20OR%20326907%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_349423"><div><strong>Fusion of middle ear ossicles</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349423</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.">C1862068</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bony fusion of malleus, incus, and stapes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349423">Feature record</a> | <a href="/medgen?term=%22Fusion%20of%20middle%20ear%20ossicles%22%5BClinical%20Features%5D%20OR%20349423%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_866886"><div><strong>Hypoplasia of the zygomatic bone</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866886</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.">C4021242</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866886">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20zygomatic%20bone%22%5BClinical%20Features%5D%20OR%20866886%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3395"><div><strong>Choanal atresia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3395</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.">C0008297</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3395">Feature record</a> | <a href="/medgen?term=%22Choanal%20atresia%22%5BClinical%20Features%5D%20OR%203395%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_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_120587"><div><strong>Preauricular pit</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120587</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.">C0266610</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Small indentation anterior to the insertion of the ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120587">Feature record</a> | <a href="/medgen?term=%22Preauricular%20pit%22%5BClinical%20Features%5D%20OR%20120587%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_3395" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choanal atresia</a></span></li><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_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></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120587" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Preauricular pit</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_349423" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fusion of middle ear ossicles</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866886" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the zygomatic bone</a></span></li><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_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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326907" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microretrognathia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retrognathia</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_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</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_152377" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anotia</a></span></li><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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57535" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microtia</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="matched_ds"><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">Treacher Collins syndrome 2</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="TLclosed"><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"><a href="/medgen/1712280" ref="tree=GTR&ncbi_uid=1712280&link_uid=1712280" title="View MedGen record for 'Treacher Collins syndrome 4'">Treacher Collins syndrome 4</a></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 2</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/27070215">Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Herlin C,
|
||
Genevieve D,
|
||
Vincent M,
|
||
Chaput B,
|
||
Captier G</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
2016 Aug;138(2):374e-376e.
|
||
doi: 10.1097/PRS.0000000000002381.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27070215" target="_blank">27070215</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27070214">Reply: Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Plomp RG,
|
||
Mathijssen IMJ</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
2016 Aug;138(2):376e.
|
||
doi: 10.1097/PRS.0000000000002382.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27070214" target="_blank">27070214</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2390243">Clinical features and surgical management of dermolipomas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McNab AA,
|
||
Wright JE,
|
||
Caswell AG</span><br />
|
||
<span class="medgenPMjournal">Aust N Z J Ophthalmol</span>
|
||
1990 May;18(2):159-62.
|
||
doi: 10.1111/j.1442-9071.1990.tb00608.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2390243" target="_blank">2390243</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(treacher%20collins%20syndrome%202)%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 (22)</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/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/29239919">Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amirhassankhani S,
|
||
Lloyd MS</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2018 Mar;29(2):372-375.
|
||
doi: 10.1097/SCS.0000000000004201.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29239919" target="_blank">29239919</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25723655">The influence of gender and laterality on the incidence of hemifacial microsomia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu S,
|
||
Zhang Z,
|
||
Tang X,
|
||
Yin L,
|
||
Liu W,
|
||
Shi L</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2015 Mar;26(2):384-7.
|
||
doi: 10.1097/SCS.0000000000001336.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25723655" target="_blank">25723655</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19644278">Tongue dysmorphology in craniofacial microsomia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen EH,
|
||
Reid RR,
|
||
Chike-Obi C,
|
||
Minugh-Purvis N,
|
||
Whitaker LA,
|
||
Puchala J,
|
||
Bartlett SP</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
2009 Aug;124(2):583-589.
|
||
doi: 10.1097/PRS.0b013e3181addba9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19644278" target="_blank">19644278</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1307507">Congenital syndromes connected with tongue malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Emmanouil-Nikoloussi E,
|
||
Kerameos-Foroglou C</span><br />
|
||
<span class="medgenPMjournal">Bull Assoc Anat (Nancy)</span>
|
||
1992 Dec;76(235):67-72.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1307507" target="_blank">1307507</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Treacher%20Collins%20syndrome%202%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 (248)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30851752">Craniofacial Microsomia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Birgfeld C,
|
||
Heike C</span><br />
|
||
<span class="medgenPMjournal">Clin Plast Surg</span>
|
||
2019 Apr;46(2):207-221.
|
||
doi: 10.1016/j.cps.2018.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30851752" target="_blank">30851752</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29239919">Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amirhassankhani S,
|
||
Lloyd MS</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2018 Mar;29(2):372-375.
|
||
doi: 10.1097/SCS.0000000000004201.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29239919" target="_blank">29239919</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25171997">Branchial arch syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alfi D,
|
||
Lam D,
|
||
Gateno J</span><br />
|
||
<span class="medgenPMjournal">Atlas Oral Maxillofac Surg Clin North Am</span>
|
||
2014 Sep;22(2):167-73.
|
||
Epub 2014 Jul 15
|
||
doi: 10.1016/j.cxom.2014.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25171997" target="_blank">25171997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25028828">Craniofacial syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buchanan EP,
|
||
Xue AS,
|
||
Hollier LH Jr</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
2014 Jul;134(1):128e-153e.
|
||
doi: 10.1097/PRS.0000000000000308.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25028828" target="_blank">25028828</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7569369">Treacher-Collins syndrome. Management of major and minor anomalies of the ear.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marres HA,
|
||
Cremers CW,
|
||
Marres EH</span><br />
|
||
<span class="medgenPMjournal">Rev Laryngol Otol Rhinol (Bord)</span>
|
||
1995;116(2):105-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7569369" target="_blank">7569369</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Treacher%20Collins%20syndrome%202%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 (246)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37468803">Miller Fischer syndrome after COVID-19 infection and vaccine: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neophytou P,
|
||
Artemiadis A,
|
||
Hadjigeorgiou GM,
|
||
Zis P</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Belg</span>
|
||
2023 Oct;123(5):1693-1701.
|
||
Epub 2023 Jul 19
|
||
doi: 10.1007/s13760-023-02336-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37468803" target="_blank">37468803</a><a href="/pmc/articles/PMC10505097" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27607112">Long-Term Surgical and Speech Outcomes Following Palatoplasty in Patients With Treacher-Collins Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Golinko MS,
|
||
LeBlanc EM,
|
||
Hallett AM,
|
||
Alperovich M,
|
||
Flores RL</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2016 Sep;27(6):1408-11.
|
||
doi: 10.1097/SCS.0000000000002821.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27607112" target="_blank">27607112</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27281829">Sutureless Lamellar Corneoscleral Patch Graft With Fibrin Sealant for Limbal Dermoid Removal.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou AX,
|
||
Ambati BK</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
2016 Jun 3;53 Online:e22-5.
|
||
doi: 10.3928/01913913-20160509-03.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27281829" target="_blank">27281829</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25748940">Temporal bone resorption: an uncommon complication after mandibular distraction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feng S,
|
||
Zhang Z,
|
||
Shi L,
|
||
Tang X,
|
||
Liu W,
|
||
Yin L,
|
||
Yang B</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2015 Mar;26(2):e185-7.
|
||
doi: 10.1097/SCS.0000000000001452.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25748940" target="_blank">25748940</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8485562">Anticardiolipin syndrome, aspirin therapy and fetal malformation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chakravarty K,
|
||
Merry P</span><br />
|
||
<span class="medgenPMjournal">Lupus</span>
|
||
1993 Feb;2(1):61-2.
|
||
doi: 10.1177/096120339300200111.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8485562" target="_blank">8485562</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Treacher%20Collins%20syndrome%202%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 (38)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34904330">TCOF1 coordinates oncogenic activation and rRNA production and promotes tumorigenesis in HCC.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu C,
|
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Xia D,
|
||
Wang D,
|
||
Wang S,
|
||
Sun Z,
|
||
Xu B,
|
||
Zhang D</span><br />
|
||
<span class="medgenPMjournal">Cancer Sci</span>
|
||
2022 Feb;113(2):553-564.
|
||
Epub 2021 Dec 29
|
||
doi: 10.1111/cas.15242.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34904330" target="_blank">34904330</a><a href="/pmc/articles/PMC8819287" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34855631">Identification of Hub Genes in Hemifacial Microsomia: Evidence From Bioinformatic Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao S,
|
||
Sun P,
|
||
Li X,
|
||
Xu X,
|
||
Peng Q,
|
||
Shu K,
|
||
Ma L,
|
||
Liang Y,
|
||
Liu B,
|
||
Zhang Z</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2022 Mar-Apr 01;33(2):e145-e149.
|
||
doi: 10.1097/SCS.0000000000008164.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34855631" target="_blank">34855631</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29489413">Anomalous Extratemporal Facial Nerve in Oculoauriculovertebral Spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Head LK,
|
||
Xuan L,
|
||
Boyd KU,
|
||
Peters DA</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
2018 May;55(5):769-772.
|
||
Epub 2018 Feb 28
|
||
doi: 10.1177/1055665618756707.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29489413" target="_blank">29489413</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25723655">The influence of gender and laterality on the incidence of hemifacial microsomia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu S,
|
||
Zhang Z,
|
||
Tang X,
|
||
Yin L,
|
||
Liu W,
|
||
Shi L</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2015 Mar;26(2):384-7.
|
||
doi: 10.1097/SCS.0000000000001336.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25723655" target="_blank">25723655</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2065490">Dental, orthodontic, and oral/maxillofacial evaluation and treatment in Apert syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferraro NF</span><br />
|
||
<span class="medgenPMjournal">Clin Plast Surg</span>
|
||
1991 Apr;18(2):291-307.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2065490" target="_blank">2065490</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Treacher%20Collins%20syndrome%202%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 (117)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36608091">Spontaneous Closure of Congenital Cranial Defect: Is Early Surgical Intervention Warranted?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seu MY,
|
||
Aminzada A,
|
||
Harmon KA,
|
||
Guidetti M,
|
||
Espinoza Orías AA,
|
||
Figueroa AA,
|
||
Tragos C</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2023 Jan-Feb 01;34(1):e96-e98.
|
||
Epub 2022 Nov 15
|
||
doi: 10.1097/SCS.0000000000009117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36608091" target="_blank">36608091</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36203321">A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ulhaq ZS,
|
||
Nurputra DK,
|
||
Soraya GV,
|
||
Kurniawati S,
|
||
Istifiani LA,
|
||
Pamungkas SA,
|
||
Tse WKF</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2023 Feb;103(2):146-155.
|
||
Epub 2022 Oct 17
|
||
doi: 10.1111/cge.14243.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36203321" target="_blank">36203321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34855631">Identification of Hub Genes in Hemifacial Microsomia: Evidence From Bioinformatic Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao S,
|
||
Sun P,
|
||
Li X,
|
||
Xu X,
|
||
Peng Q,
|
||
Shu K,
|
||
Ma L,
|
||
Liang Y,
|
||
Liu B,
|
||
Zhang Z</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2022 Mar-Apr 01;33(2):e145-e149.
|
||
doi: 10.1097/SCS.0000000000008164.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34855631" target="_blank">34855631</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34231513">The Stress Concentration and Biomechanical Properties of the Intraoral Distractors and the Extraoral Distractors Used in Treatment of Hemifacial Microsomia Patients: A Simulation Finite Element Analysis Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El Hadidi YN,
|
||
Askar MG</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2021 Nov-Dec 01;32(8):2621-2625.
|
||
doi: 10.1097/SCS.0000000000007805.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34231513" target="_blank">34231513</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34058530">De novo TCOF1 mutation in Treacher Collins syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
|
||
Dong J,
|
||
Li P,
|
||
Duan W</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2021 Aug;147:110765.
|
||
Epub 2021 May 11
|
||
doi: 10.1016/j.ijporl.2021.110765.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34058530" target="_blank">34058530</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Treacher%20Collins%20syndrome%202%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 (155)</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/37468803">Miller Fischer syndrome after COVID-19 infection and vaccine: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neophytou P,
|
||
Artemiadis A,
|
||
Hadjigeorgiou GM,
|
||
Zis P</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Belg</span>
|
||
2023 Oct;123(5):1693-1701.
|
||
Epub 2023 Jul 19
|
||
doi: 10.1007/s13760-023-02336-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37468803" target="_blank">37468803</a><a href="/pmc/articles/PMC10505097" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36203321">A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ulhaq ZS,
|
||
Nurputra DK,
|
||
Soraya GV,
|
||
Kurniawati S,
|
||
Istifiani LA,
|
||
Pamungkas SA,
|
||
Tse WKF</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2023 Feb;103(2):146-155.
|
||
Epub 2022 Oct 17
|
||
doi: 10.1111/cge.14243.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36203321" target="_blank">36203321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32893956">Candidate genes of oculo-auriculo-vertebral spectrum in 22q region: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glaeser AB,
|
||
Santos AS,
|
||
Diniz BL,
|
||
Deconte D,
|
||
Rosa RFM,
|
||
Zen PRG</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2020 Nov;182(11):2624-2631.
|
||
Epub 2020 Sep 7
|
||
doi: 10.1002/ajmg.a.61841.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32893956" target="_blank">32893956</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29239919">Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amirhassankhani S,
|
||
Lloyd MS</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2018 Mar;29(2):372-375.
|
||
doi: 10.1097/SCS.0000000000004201.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29239919" target="_blank">29239919</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28736116">Central nervous system anomalies in craniofacial microsomia: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Renkema RW,
|
||
Caron CJJM,
|
||
Wolvius EB,
|
||
Dunaway DJ,
|
||
Forrest CR,
|
||
Padwa BL,
|
||
Koudstaal MJ</span><br />
|
||
<span class="medgenPMjournal">Int J Oral Maxillofac Surg</span>
|
||
2018 Jan;47(1):27-34.
|
||
Epub 2017 Jul 20
|
||
doi: 10.1016/j.ijom.2017.06.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28736116" target="_blank">28736116</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Treacher%20Collins%20syndrome%202%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 (8)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
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|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
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<div>
|
||
|
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<!-- MedGen supplemental column starts here -->
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<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3150983%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (25)</a></li>
|
||
<li><a href="/gtr/tests?term=C3150983%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (36)</a></li>
|
||
<li><a href="/gtr/tests?term=C3150983%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (14)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3150983%5bDISCUI%5d" target="_blank">See all (38)</a></total></li>
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</ul></div>
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=613717" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Treacher%20Collins%20syndrome%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(treacher%20collins%20syndrome%202)%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>
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</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>
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||
<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=613715" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=51082[geneid]" target="_blank">View POLR1D variations in ClinVar</a></li><li><a href="/nuccore/331999938" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=613717" 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="http://www.diseaseinfosearch.org/Treacher+collins+syndrome+2/9423" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/treacher_collins_syndrome_2" 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%202" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15698/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">
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||
<h3>Reviews</h3>
|
||
</div>
|
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<a href="/pubmed/20301704" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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