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<meta name="keywords" content="C0242387, disease or syndrome, dysostoses, mandibulofacial, dysostosis, mandibulofacial, franceschetti klein syndrome, franceschetti syndrome, franceschetti zwahlen klein syndrome, franceschetti-klein syndrome, franceschetti-zwahlen-klein syndrome, franceschetti-zwahlen-klein syndromes, mandibulofacial dysostoses, mandibulofacial dysostosis, mandibulofacial dysostosis without limb anomalies, mfd1, syndrome, franceschetti-zwahlen-klein, syndrome, treacher collins, syndrome, treacher collins-franceschetti, syndromes, franceschetti-zwahlen-klein, syndromes, treacher collins-franceschetti, tcof, tcs, tcs1, treacher collins franceschetti syndrome, treacher collins syndrome, treacher collins syndrome 1, treacher collins-franceschetti syndrome, treacher collins-franceschetti syndromes, treacher-collins syndrome, 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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<title>Treacher Collins syndrome (Concept Id: C0242387)
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<!--
UID=66078
ConceptID=C0242387
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Treacher Collins syndrome<span class="h1sub">(TCOF; TCS; MFD1; TCS1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66078</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C0242387</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>TREACHER COLLINS-FRANCESCHETTI SYNDROME</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Treacher Collins syndrome (82203000); Mandibulofacial dysostosis (82203000); Franceschetti Klein syndrome (82203000)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
Gene(s) associated with related conditions. For conditions<br />
in a hierarchy, the parent condition will list the genes<br />
associated with the children conditions.</div></td>
<td><a target="_blank" href="/gene/84172">POLR1B</a>, <a target="_blank" href="/gene/51082">POLR1D</a>, <a target="_blank" href="/gene/9533">POLR1C</a>, <a target="_blank" href="/gene/6949">TCOF1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0002457" target="_blank">MONDO:0002457</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/154500" target="_blank">154500</a>; <a href="https://omim.org/entry/606847" target="_blank">606847</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
<td><a href="https://omim.org/phenotypicSeries/PS154500" target="_blank">PS154500</a></td></tr>
<tr><td>Orphanet:</td>
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&amp;Expert=861">ORPHA861</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>
<div class="portlet mgSection" id="ID_101">
<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>
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<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 MedlinePlus Genetics</strong><br />Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems.<br /><br />People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma. Some affected individuals have additional eye abnormalities that can lead to vision loss. This condition is also characterized by absent, small, or unusually formed ears. Hearing loss occurs in about half of all affected individuals; hearing loss is caused by defects of the three small bones in the middle ear, which transmit sound, or by underdevelopment of the ear canal. People with Treacher Collins syndrome usually have normal intelligence.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/treacher-collins-syndrome">https://medlineplus.gov/genetics/condition/treacher-collins-syndrome</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_8192"><div><strong>Cryptorchidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8192</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0010417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/8192">Feature record</a> | <a href="/medgen?term=%22Cryptorchidism%22%5BClinical%20Features%5D%20OR%208192%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_6748"><div><strong>Abnormal heart morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6748</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0018798</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Any structural anomaly of the heart.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6748">Feature record</a> | <a href="/medgen?term=%22Abnormal%20heart%20morphology%22%5BClinical%20Features%5D%20OR%206748%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)&#10;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)&#10;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_78613"><div><strong>Atresia of the external auditory canal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78613</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0266597</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Absence or failure to form of the external auditory canal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/78613">Feature record</a> | <a href="/medgen?term=%22Atresia%20of%20the%20external%20auditory%20canal%22%5BClinical%20Features%5D%20OR%2078613%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_167800"><div><strong>Abnormal pinna morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167800</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0857379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">An abnormality of the pinna, which is also referred to as the auricle or external ear.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/167800">Feature record</a> | <a href="/medgen?term=%22Abnormal%20pinna%20morphology%22%5BClinical%20Features%5D%20OR%20167800%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9335"><div><strong>Hydrocephalus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9335</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0020255</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9335">Feature record</a> | <a href="/medgen?term=%22Hydrocephalus%22%5BClinical%20Features%5D%20OR%209335%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)&#10;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)&#10;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_322167"><div><strong>Lambdoidal craniosynostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322167</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1833340</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Craniosynostosis (CRS) is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-4 (CRS4) includes lambdoid, sagittal, metopic, coronal, and multisuture forms.&#13; For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/322167">Feature record</a> | <a href="/medgen?term=%22Lambdoidal%20craniosynostosis%22%5BClinical%20Features%5D%20OR%20322167%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_344694"><div><strong>Coronal craniosynostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344694</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1856266</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Premature closure of the coronal suture of skull.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/344694">Feature record</a> | <a href="/medgen?term=%22Coronal%20craniosynostosis%22%5BClinical%20Features%5D%20OR%20344694%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)&#10;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_1863703"><div><strong>Squamosal suture synostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1863703</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5937367</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Premature closure of the squamosal suture, which is one of the lateral minor skull sutures, separating the parietal and squamous temporal bones.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1863703">Feature record</a> | <a href="/medgen?term=%22Squamosal%20suture%20synostosis%22%5BClinical%20Features%5D%20OR%201863703%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_869864"><div><strong>Hypoplasia of the pharynx</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869864</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4024295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Underdevelopment of the pharynx.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/869864">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20pharynx%22%5BClinical%20Features%5D%20OR%20869864%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)&#10;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_44238"><div><strong>Wide mouth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44238</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0024433</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/44238">Feature record</a> | <a href="/medgen?term=%22Wide%20mouth%22%5BClinical%20Features%5D%20OR%2044238%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_44435"><div><strong>Narrow mouth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44435</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0026034</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/44435">Feature record</a> | <a href="/medgen?term=%22Narrow%20mouth%22%5BClinical%20Features%5D%20OR%2044435%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_116054"><div><strong>Lacrimal duct stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116054</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0238300</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Narrowing of a tear duct (lacrimal duct).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/116054">Feature record</a> | <a href="/medgen?term=%22Lacrimal%20duct%20stenosis%22%5BClinical%20Features%5D%20OR%20116054%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)&#10;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_98471"><div><strong>Cleft soft palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98471</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0432098</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98471">Feature record</a> | <a href="/medgen?term=%22Cleft%20soft%20palate%22%5BClinical%20Features%5D%20OR%2098471%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)&#10;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_350283"><div><strong>Upper eyelid coloboma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350283</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1863872</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 upper eyelid.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/350283">Feature record</a> | <a href="/medgen?term=%22Upper%20eyelid%20coloboma%22%5BClinical%20Features%5D%20OR%20350283%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)&#10;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)&#10;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="divPopper rprt" id="clin_871384"><div><strong>Abnormal parotid gland morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871384</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4025880</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/871384">Feature record</a> | <a href="/medgen?term=%22Abnormal%20parotid%20gland%20morphology%22%5BClinical%20Features%5D%20OR%20871384%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_322584"><div><strong>Sparse lower eyelashes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322584</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1835148</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/322584">Feature record</a> | <a href="/medgen?term=%22Sparse%20lower%20eyelashes%22%5BClinical%20Features%5D%20OR%20322584%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_334299"><div><strong>Absent eyelashes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334299</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1843005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Lack of eyelashes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/334299">Feature record</a> | <a href="/medgen?term=%22Absent%20eyelashes%22%5BClinical%20Features%5D%20OR%20334299%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_395989"><div><strong>Preauricular skin tag</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395989</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1860816</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/395989">Feature record</a> | <a href="/medgen?term=%22Preauricular%20skin%20tag%22%5BClinical%20Features%5D%20OR%20395989%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_2287"><div><strong>Ptosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2287</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0005745</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2287">Feature record</a> | <a href="/medgen?term=%22Ptosis%22%5BClinical%20Features%5D%20OR%202287%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_21337"><div><strong>Strabismus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21337</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0038379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/21337">Feature record</a> | <a href="/medgen?term=%22Strabismus%22%5BClinical%20Features%5D%20OR%2021337%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_334420"><div><strong>Bilateral microphthalmos</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334420</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1843496</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A developmental anomaly characterized by abnormal smallness of both eyes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/334420">Feature record</a> | <a href="/medgen?term=%22Bilateral%20microphthalmos%22%5BClinical%20Features%5D%20OR%20334420%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_784038"><div><strong>Visual loss</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>784038</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3665386</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/784038">Feature record</a> | <a href="/medgen?term=%22Visual%20loss%22%5BClinical%20Features%5D%20OR%20784038%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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).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_871384" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal parotid gland morphology</a></span></li><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_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_98471" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleft soft 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_116054" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lacrimal duct stenosis</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_44435" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Narrow mouth</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><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_350283" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Upper eyelid coloboma</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44238" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wide mouth</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6748" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal heart morphology</a></span></li></ul></li><li><span class="TLline">Abnormality of the ear</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_167800" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal pinna morphology</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atresia of the external auditory canal</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><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334420" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral microphthalmos</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2287" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ptosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Strabismus</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_784038" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Visual loss</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8192" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cryptorchidism</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_334299" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent eyelashes</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_395989" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Preauricular skin tag</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322584" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sparse lower eyelashes</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_344694" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coronal craniosynostosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322167" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lambdoidal craniosynostosis</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_1863703" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Squamosal suture synostosis</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_9335" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydrocephalus</a></span></li><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_869864" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the pharynx</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><li><a href="#tabORDO">Orphanet</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&amp;ncbi_uid=505796&amp;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]&amp;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&amp;from_uid=898794" ref="ncbi_uid=898794">V</a></span></span><span class="TLline"><a href="/medgen/898794" ref="tree=GTR&amp;ncbi_uid=898794&amp;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&amp;ncbi_uid=355927&amp;link_uid=355927" title="View MedGen record for 'Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome'">Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome</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=C0242387[DISCUI]&amp;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&amp;from_uid=66078" ref="ncbi_uid=66078">V</a></span></span><span class="TLline">Treacher Collins syndrome</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]&amp;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&amp;from_uid=994681" ref="ncbi_uid=994681">V</a></span></span><span class="TLline"><a href="/medgen/994681" ref="tree=GTR&amp;ncbi_uid=994681&amp;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]&amp;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&amp;from_uid=462333" ref="ncbi_uid=462333">V</a></span></span><span class="TLline"><a href="/medgen/462333" ref="tree=GTR&amp;ncbi_uid=462333&amp;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]&amp;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&amp;from_uid=340868" ref="ncbi_uid=340868">V</a></span></span><span class="TLline"><a href="/medgen/340868" ref="tree=GTR&amp;ncbi_uid=340868&amp;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]&amp;test_type=Clinical&amp;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&amp;from_uid=1712280" ref="ncbi_uid=1712280">V</a></span></span><span class="TLline"><a href="/medgen/1712280" ref="tree=GTR&amp;ncbi_uid=1712280&amp;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="matched_ds">Treacher Collins syndrome</span><ul><li><span class="TLline"><a href="/medgen/75554" ref="tree=MeSH" title="MedGen record for Craniofacial microsomia">Craniofacial microsomia</a></span><ul><li><span class="TLline"><a href="/medgen/501171" ref="tree=MeSH" title="MedGen record for Craniofacial microsomia 1">Craniofacial microsomia 1</a></span></li><li><span class="TLline"><a href="/medgen/1830923" ref="tree=MeSH" title="MedGen record for Craniofacial microsomia 2">Craniofacial microsomia 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/994681" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome 1">Treacher Collins syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/462333" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome 2">Treacher Collins syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/340868" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome 3">Treacher Collins syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/1712280" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome 4">Treacher Collins syndrome 4</a></span></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&amp;data_id=156&amp;PatId=17091&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Treacher Collins syndrome</span> in Orphanet.</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/34573374">Treacher Collins Syndrome: Genetics, Clinical Features and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Marszałek-Kruk BA,
Wójcicki P,
Dowgierd K,
Śmigiel R</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2021 Sep 9;12(9)
doi: 10.3390/genes12091392.
<span class="bold">PMID: </span><a href="/pubmed/34573374" target="_blank">34573374</a><a href="/pmc/articles/PMC8470852" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22treacher%20collins%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (17)</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/32932838">Ribosomopathies: New Therapeutic Perspectives.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Orgebin E,
Lamoureux F,
Isidor B,
Charrier C,
Ory B,
Lézot F,
Baud'huin M</span><br />
<span class="medgenPMjournal">Cells</span>
2020 Sep 11;9(9)
doi: 10.3390/cells9092080.
<span class="bold">PMID: </span><a href="/pubmed/32932838" target="_blank">32932838</a><a href="/pmc/articles/PMC7564184" target="_blank" class="PubMedFree">Free PMC Article</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/26710023">Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Plomp RG,
van Lieshout MJS,
Joosten KFM,
Wolvius EB,
van der Schroeff MP,
Versnel SL,
Poublon RML,
Mathijssen IMJ</span><br />
<span class="medgenPMjournal">Plast Reconstr Surg</span>
2016 Jan;137(1):191-204.
doi: 10.1097/PRS.0000000000001896.
<span class="bold">PMID: </span><a href="/pubmed/26710023" target="_blank">26710023</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16641635">Invited discussion: Surgical treatment of Treacher Collins syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Miller JJ,
Schendel SA</span><br />
<span class="medgenPMjournal">Ann Plast Surg</span>
2006 May;56(5):555-6.
doi: 10.1097/01.sap.0000205823.77358.47.
<span class="bold">PMID: </span><a href="/pubmed/16641635" target="_blank">16641635</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Treacher%20Collins%20syndrome%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 (141)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/34573374">Treacher Collins Syndrome: Genetics, Clinical Features and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Marszałek-Kruk BA,
Wójcicki P,
Dowgierd K,
Śmigiel R</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2021 Sep 9;12(9)
doi: 10.3390/genes12091392.
<span class="bold">PMID: </span><a href="/pubmed/34573374" target="_blank">34573374</a><a href="/pmc/articles/PMC8470852" target="_blank" class="PubMedFree">Free PMC Article</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/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/10868214">Treacher Collins syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Marsh KL,
Dixon MJ</span><br />
<span class="medgenPMjournal">Adv Otorhinolaryngol</span>
2000;56:53-9.
doi: 10.1159/000059083.
<span class="bold">PMID: </span><a href="/pubmed/10868214" target="_blank">10868214</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8558560">Treacher Collins syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dixon MJ</span><br />
<span class="medgenPMjournal">J Med Genet</span>
1995 Oct;32(10):806-8.
doi: 10.1136/jmg.32.10.806.
<span class="bold">PMID: </span><a href="/pubmed/8558560" target="_blank">8558560</a><a href="/pmc/articles/PMC1051706" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Treacher%20Collins%20syndrome%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 (178)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/37076335">Difficult or impossible facemask ventilation in children with difficult tracheal intubation: a retrospective analysis of the PeDI registry.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Garcia-Marcinkiewicz AG,
Lee LK,
Haydar B,
Fiadjoe JE,
Matava CT,
Kovatsis PG,
Peyton J,
Stein ML,
Park R,
Taicher BM,
Templeton TW;
PeDI Collaborative</span><br />
<span class="medgenPMjournal">Br J Anaesth</span>
2023 Jul;131(1):178-187.
Epub 2023 Apr 17
doi: 10.1016/j.bja.2023.02.035.
<span class="bold">PMID: </span><a href="/pubmed/37076335" target="_blank">37076335</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32361149">Prevention methods for Treacher Collins syndrome: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Guo P,
Pan B,
Jiang H,
Yang Q,
He L,
Lin L</span><br />
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
2020 Jul;134:110062.
Epub 2020 Apr 21
doi: 10.1016/j.ijporl.2020.110062.
<span class="bold">PMID: </span><a href="/pubmed/32361149" target="_blank">32361149</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/25862218">Nasal sequelae of Treacher Collins syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Plomp RG,
Mathijssen IM,
Moolenburgh SE,
van Montfort KA,
van der Meulen JJ,
Poublon RM</span><br />
<span class="medgenPMjournal">J Plast Reconstr Aesthet Surg</span>
2015 Jun;68(6):771-81.
Epub 2015 Mar 14
doi: 10.1016/j.bjps.2015.02.029.
<span class="bold">PMID: </span><a href="/pubmed/25862218" target="_blank">25862218</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%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 (39)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38462395">Pediatric Temporomandibular Joint Pathology.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Resnick CM</span><br />
<span class="medgenPMjournal">Oral Maxillofac Surg Clin North Am</span>
2024 Aug;36(3):303-315.
Epub 2024 Mar 10
doi: 10.1016/j.coms.2024.01.008.
<span class="bold">PMID: </span><a href="/pubmed/38462395" target="_blank">38462395</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 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/26710023">Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Plomp RG,
van Lieshout MJS,
Joosten KFM,
Wolvius EB,
van der Schroeff MP,
Versnel SL,
Poublon RML,
Mathijssen IMJ</span><br />
<span class="medgenPMjournal">Plast Reconstr Surg</span>
2016 Jan;137(1):191-204.
doi: 10.1097/PRS.0000000000001896.
<span class="bold">PMID: </span><a href="/pubmed/26710023" target="_blank">26710023</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Treacher%20Collins%20syndrome%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 (90)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37437901">Mandibular Dysmorphology and Clinical Presentation in Treacher Collins Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tonello C,
Dias GB,
Nunes RB,
Fussuma CY,
Sousa LR,
Feitosa LB,
Flores RL,
Alonso N</span><br />
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
2024 Nov;61(11):1822-1827.
Epub 2023 Jun 25
doi: 10.1177/10556656231184967.
<span class="bold">PMID: </span><a href="/pubmed/37437901" target="_blank">37437901</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37075751">POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Smallwood K,
Watt KEN,
Ide S,
Baltrunaite K,
Brunswick C,
Inskeep K,
Capannari C,
Adam MP,
Begtrup A,
Bertola DR,
Demmer L,
Demo E,
Devinsky O,
Gallagher ER,
Guillen Sacoto MJ,
Jech R,
Keren B,
Kussmann J,
Ladda R,
Lansdon LA,
Lunke S,
Mardy A,
McWalters K,
Person R,
Raiti L,
Saitoh N,
Saunders CJ,
Schnur R,
Skorvanek M,
Sell SL,
Slavotinek A,
Sullivan BR,
Stark Z,
Symonds JD,
Wenger T,
Weber S,
Whalen S,
White SM,
Winkelmann J,
Zech M,
Zeidler S,
Maeshima K,
Stottmann RW,
Trainor PA,
Weaver KN</span><br />
<span class="medgenPMjournal">Am J Hum Genet</span>
2023 May 4;110(5):809-825.
Epub 2023 Apr 18
doi: 10.1016/j.ajhg.2023.03.014.
<span class="bold">PMID: </span><a href="/pubmed/37075751" target="_blank">37075751</a><a href="/pmc/articles/PMC10183370" 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/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 class="nl"><a target="_blank" href="/pubmed/13906637">Otological observations on the "Treacher Collins syndrome".</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">HERBERTS G</span><br />
<span class="medgenPMjournal">Acta Otolaryngol</span>
1962 May;54:457-65.
doi: 10.3109/00016486209126965.
<span class="bold">PMID: </span><a href="/pubmed/13906637" target="_blank">13906637</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Treacher%20Collins%20syndrome%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 (105)</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/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/32361149">Prevention methods for Treacher Collins syndrome: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Guo P,
Pan B,
Jiang H,
Yang Q,
He L,
Lin L</span><br />
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
2020 Jul;134:110062.
Epub 2020 Apr 21
doi: 10.1016/j.ijporl.2020.110062.
<span class="bold">PMID: </span><a href="/pubmed/32361149" target="_blank">32361149</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26710023">Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Plomp RG,
van Lieshout MJS,
Joosten KFM,
Wolvius EB,
van der Schroeff MP,
Versnel SL,
Poublon RML,
Mathijssen IMJ</span><br />
<span class="medgenPMjournal">Plast Reconstr Surg</span>
2016 Jan;137(1):191-204.
doi: 10.1097/PRS.0000000000001896.
<span class="bold">PMID: </span><a href="/pubmed/26710023" target="_blank">26710023</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Treacher%20Collins%20syndrome%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 (3)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0242387%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
<li><a href="/gtr/tests?term=C0242387%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0242387%5bDISCUI%5d" target="_blank">See all (6)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS154500" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=861" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Treacher%20Collins%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></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=(%22treacher%20collins%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Treacher%20Collins%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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