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<meta name="keywords" content="CN004722, bilateral and symmetric oto-mandibular dysplasia, disease or syndrome, mandibulofacial dysostosis, 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 a disorder of craniofacial development. The features include downslanting palpebral fissures, coloboma of the eyelid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present (summary by Dixon, 1996). Genetic Heterogeneity of Treacher Collins Syndrome Treacher Collins syndrome-2 (TCS2; 613717) is caused by mutation in the POLR1D gene (613715) on chromosome 13q12. Treacher Collins syndrome-3 (TCS3; 248390) is caused by mutation in the POLR1C gene (610060) on chromosome 6p21. Treacher Collins syndrome-4 (TCS4; 618939) is caused by mutation in the POLR1B gene (602000) on chromosome 2q14." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=505796
|
||
ConceptID=CN004722
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Mandibulofacial dysostosis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>505796</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN004722</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Bilateral and symmetric oto-mandibular dysplasia; bilateral and symmetric oto-mandibular dysplasia; mandibulofacial dysostosis; Treacher Collins syndrome</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>, <a target="_blank" href="/gene/1909">EDNRA</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0005321">HP:0005321</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0015483" target="_blank">MONDO:0015483</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&Expert=155899">ORPHA155899</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Treacher Collins syndrome (TCS) is a disorder of craniofacial development. The features include downslanting palpebral fissures, coloboma of the eyelid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present (summary by Dixon, 1996). Genetic Heterogeneity of Treacher Collins Syndrome Treacher Collins syndrome-2 (TCS2; 613717) is caused by mutation in the POLR1D gene (613715) on chromosome 13q12. Treacher Collins syndrome-3 (TCS3; 248390) is caused by mutation in the POLR1C gene (610060) on chromosome 6p21. Treacher Collins syndrome-4 (TCS4; 618939) is caused by mutation in the POLR1B gene (602000) on chromosome 2q14. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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|
||
<div class="portlet mgSection" id="ID_118">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet 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">Mandibulofacial dysostosis</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4225349[DISCUI]&test_type=Clinical" ref="ncbi_uid=898794">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=898794" target="_blank" href="/omim/131243">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=898794" ref="ncbi_uid=898794">V</a></span></span><span class="TLline"><a href="/medgen/898794" ref="tree=GTR&ncbi_uid=898794&link_uid=898794" title="View MedGen record for 'Mandibulofacial dysostosis with alopecia'">Mandibulofacial dysostosis with alopecia</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355927" target="_blank" href="/omim/602562">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/355927" ref="tree=GTR&ncbi_uid=355927&link_uid=355927" title="View MedGen record for 'Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome'">Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0242387[DISCUI]&test_type=Clinical" ref="ncbi_uid=66078">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=66078" target="_blank" href="/omim/154500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1532/" ref="ncbi_uid=66078">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=66078" ref="ncbi_uid=66078">V</a></span></span><span class="TLline"><a href="/medgen/66078" ref="tree=GTR&ncbi_uid=66078&link_uid=66078" title="View MedGen record for 'Treacher Collins syndrome'">Treacher Collins syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN315775[DISCUI]&test_type=Clinical" ref="ncbi_uid=994681">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1532/" ref="ncbi_uid=994681">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=994681" ref="ncbi_uid=994681">V</a></span></span><span class="TLline"><a href="/medgen/994681" ref="tree=GTR&ncbi_uid=994681&link_uid=994681" title="View MedGen record for 'Treacher Collins syndrome 1'">Treacher Collins syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150983[DISCUI]&test_type=Clinical" ref="ncbi_uid=462333">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462333" target="_blank" href="/omim/613715">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1532/" ref="ncbi_uid=462333">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462333" ref="ncbi_uid=462333">V</a></span></span><span class="TLline"><a href="/medgen/462333" ref="tree=GTR&ncbi_uid=462333&link_uid=462333" title="View MedGen record for 'Treacher Collins syndrome 2'">Treacher Collins syndrome 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1855433[DISCUI]&test_type=Clinical" ref="ncbi_uid=340868">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340868" target="_blank" href="/omim/248390">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1532/" ref="ncbi_uid=340868">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=340868" ref="ncbi_uid=340868">V</a></span></span><span class="TLline"><a href="/medgen/340868" ref="tree=GTR&ncbi_uid=340868&link_uid=340868" title="View MedGen record for 'Treacher Collins syndrome 3'">Treacher Collins syndrome 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5394546[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1712280">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1712280" target="_blank" href="/omim/602000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1532/" ref="ncbi_uid=1712280">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1712280" ref="ncbi_uid=1712280">V</a></span></span><span class="TLline"><a href="/medgen/1712280" ref="tree=GTR&ncbi_uid=1712280&link_uid=1712280" title="View MedGen record for 'Treacher Collins syndrome 4'">Treacher Collins syndrome 4</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/867418" ref="tree=MeSH" title="MedGen record for Abnormality of the skeletal system">Abnormality of the skeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/868760" ref="tree=MeSH" title="MedGen record for Abnormal skeletal morphology">Abnormal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892434" ref="tree=MeSH" title="MedGen record for Abnormal axial skeleton morphology">Abnormal axial skeleton morphology</a></span><ul><li><span class="TLline"><a href="/medgen/488801" ref="tree=MeSH" title="MedGen record for Abnormal skull morphology">Abnormal skull morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1162" ref="tree=MeSH" title="MedGen record for Crouzon syndrome">Crouzon syndrome</a></span><ul><li><span class="matched_ds">Mandibulofacial dysostosis</span><ul><li><span class="TLline"><a href="/medgen/113097" ref="tree=MeSH" title="MedGen record for Acrodysostosis">Acrodysostosis</a></span></li><li><span class="TLline"><a href="/medgen/957516" ref="tree=MeSH" title="MedGen record for Acrodysostosis with multiple hormone resistance">Acrodysostosis with multiple hormone resistance</a></span></li><li><span class="TLline"><a href="/medgen/898794" ref="tree=MeSH" title="MedGen record for Mandibulofacial dysostosis with alopecia">Mandibulofacial dysostosis with alopecia</a></span></li><li><span class="TLline"><a href="/medgen/355927" ref="tree=MeSH" title="MedGen record for Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome">Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/66078" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome">Treacher Collins syndrome</a></span><ul><li><span class="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></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_331276"><div><strong>Mandibulofacial dysostosis with ptosis, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331276</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1842349</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/331276">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_340868"><div><strong>Treacher Collins syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340868</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855433</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">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.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/340868">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_355264"><div><strong>Mandibulofacial dysostosis-microcephaly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355264</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1864652</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Mandibulofacial dysostosis with microcephaly (MFDM) is characterized by malar and mandibular hypoplasia, microcephaly (congenital or postnatal onset), intellectual disability (mild, moderate, or severe), malformations of the external ear, and hearing loss that is typically conductive. Associated craniofacial malformations may include cleft palate, choanal atresia, zygomatic arch cleft (identified on cranial CT scan), and facial asymmetry. Other relatively common findings (present in 25%-35% of individuals) can include cardiac anomalies, thumb anomalies, esophageal atresia/tracheoesophageal fistula, short stature, spine anomalies, and epilepsy.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/355264">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_355927"><div><strong>Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355927</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1865181</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is a rare developmental defect during embryogenesis disorder characterized by macroblepharon, ectropion, and facial dysmorphism which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, increased density of upper eyelashes, anterverted nares, abnormal dentition and capillary hemangioma.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/355927">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_412873"><div><strong>Diamond-Blackfan anemia 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412873</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2750080</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/412873">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_419487"><div><strong>Acrofacial dysostosis, Catania type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419487</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2931762</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The Catania type of acrofacial dysostosis is characterized by intrauterine growth retardation, short stature, microcephaly, intellectual disability, widow's peak, mandibulofacial dysostosis without cleft palate, ear anomalies, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, dental anomalies, and cryptorchidism and hypospadias in males (Opitz et al., 1993; Wulfsberg et al., 1996).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/419487">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_898794"><div><strong>Mandibulofacial dysostosis with alopecia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>898794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225349</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A rare mandibulofacial dysostosis with the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism and eyelid anomalies among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction and conductive hearing loss.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/898794">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1808766"><div><strong>Patterson-Stevenson-Fontaine syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1808766</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5574964</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A very rare variant of acrofacial dysostosis with characteristics of mandibulofacial dysostosis and limb anomalies. It has been described in less than ten patients. The mandibulofacial dysostosis consists of retrognathism, complete or occult posterior cleft palate and anomalies of the external ears. Limb anomalies consist of split-foot deformity with syndactyly of some toes. The condition is transmitted as an autosomal dominant trait with variable penetrance and expressivity.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1808766">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419487" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrofacial dysostosis, Catania type</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_412873" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 10</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_898794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibulofacial dysostosis with alopecia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331276" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibulofacial dysostosis with ptosis, autosomal dominant</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355927" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355264" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibulofacial dysostosis-microcephaly syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1808766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Patterson-Stevenson-Fontaine syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340868" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Treacher Collins syndrome 3</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
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<div class="nl"><a target="_blank" href="/pubmed/34573374">Treacher Collins Syndrome: Genetics, Clinical Features and Management.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Marszałek-Kruk BA,
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Wójcicki P,
|
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Dowgierd K,
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Śmigiel R</span><br />
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<span class="medgenPMjournal">Genes (Basel)</span>
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2021 Sep 9;12(9)
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doi: 10.3390/genes12091392.
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/1847948">Prenatal ultrasonic diagnosis of mandibulofacial dysostosis (Treacher Collins syndrome).</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Meizner I,
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Carmi R,
|
||
Katz M</span><br />
|
||
<span class="medgenPMjournal">J Clin Ultrasound</span>
|
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1991 Feb;19(2):124-7.
|
||
doi: 10.1002/jcu.1870190213.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1847948" target="_blank">1847948</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6463027">Prenatal diagnosis of mandibulofacial dysostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nicolaides KH,
|
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Johansson D,
|
||
Donnai D,
|
||
Rodeck CH</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
1984 May-Jun;4(3):201-5.
|
||
doi: 10.1002/pd.1970040307.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6463027" target="_blank">6463027</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22mandibulofacial%20dysostosis%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 (8)</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/33752939">Extracraniofacial anomalies in Treacher Collins syndrome: A multicentre study of 248 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beaumont CA,
|
||
Dunaway DJ,
|
||
Padwa BL,
|
||
Forrest C,
|
||
Koudstaal MJ,
|
||
Caron CJJM</span><br />
|
||
<span class="medgenPMjournal">Int J Oral Maxillofac Surg</span>
|
||
2021 Nov;50(11):1471-1476.
|
||
Epub 2021 Mar 19
|
||
doi: 10.1016/j.ijom.2021.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33752939" target="_blank">33752939</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29239919">Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amirhassankhani S,
|
||
Lloyd MS</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2018 Mar;29(2):372-375.
|
||
doi: 10.1097/SCS.0000000000004201.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29239919" target="_blank">29239919</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26025357">Ear malformations, hearing loss and hearing rehabilitation in children with Treacher Collins syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosa F,
|
||
Coutinho MB,
|
||
Ferreira JP,
|
||
Sousa CA</span><br />
|
||
<span class="medgenPMjournal">Acta Otorrinolaringol Esp</span>
|
||
2016 May-Jun;67(3):142-7.
|
||
Epub 2015 May 27
|
||
doi: 10.1016/j.otorri.2015.01.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26025357" target="_blank">26025357</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23565775">Human facial dysostoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wieczorek D</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2013 Jun;83(6):499-510.
|
||
Epub 2013 Apr 8
|
||
doi: 10.1111/cge.12123.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23565775" target="_blank">23565775</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7572098">Abnormal craniofacial growth.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friede H</span><br />
|
||
<span class="medgenPMjournal">Acta Odontol Scand</span>
|
||
1995 Jun;53(3):203-9.
|
||
doi: 10.3109/00016359509005973.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7572098" target="_blank">7572098</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mandibulofacial%20dysostosis%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 (222)</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/25543163">Nager syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lansinger Y,
|
||
Rayan G</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2015 Apr;40(4):851-4.
|
||
Epub 2014 Dec 24
|
||
doi: 10.1016/j.jhsa.2014.10.064.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25543163" target="_blank">25543163</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/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/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 class="nl"><a target="_blank" href="/pubmed/14071056">OCULOAURICULOVERTEBRAL DYSPLASIA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">GORLIN RJ,
|
||
JUE KL,
|
||
JACOBSEN U,
|
||
GOLDSCHMIDT E</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1963 Nov;63:991-9.
|
||
doi: 10.1016/s0022-3476(63)80233-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14071056" target="_blank">14071056</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mandibulofacial%20dysostosis%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 (348)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37468803">Miller Fischer syndrome after COVID-19 infection and vaccine: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neophytou P,
|
||
Artemiadis A,
|
||
Hadjigeorgiou GM,
|
||
Zis P</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Belg</span>
|
||
2023 Oct;123(5):1693-1701.
|
||
Epub 2023 Jul 19
|
||
doi: 10.1007/s13760-023-02336-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37468803" target="_blank">37468803</a><a href="/pmc/articles/PMC10505097" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19693314">The Twiddling Andersen.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jefferies JL,
|
||
Kim JJ,
|
||
Belmont JW,
|
||
Friedman RA</span><br />
|
||
<span class="medgenPMjournal">Tex Heart Inst J</span>
|
||
2009;36(4):349-51.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19693314" target="_blank">19693314</a><a href="/pmc/articles/PMC2720289" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11013442">High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Splendore A,
|
||
Silva EO,
|
||
Alonso LG,
|
||
Richieri-Costa A,
|
||
Alonso N,
|
||
Rosa A,
|
||
Carakushanky G,
|
||
Cavalcanti DP,
|
||
Brunoni D,
|
||
Passos-Bueno MR</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2000 Oct;16(4):315-22.
|
||
doi: 10.1002/1098-1004(200010)16:4<315::AID-HUMU4>3.0.CO;2-H.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11013442" target="_blank">11013442</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7832540">Ear surgery in Treacher Collins syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marres HA,
|
||
Cremers CW,
|
||
Marres EH,
|
||
Huygen PL</span><br />
|
||
<span class="medgenPMjournal">Ann Otol Rhinol Laryngol</span>
|
||
1995 Jan;104(1):31-41.
|
||
doi: 10.1177/000348949510400106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7832540" target="_blank">7832540</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4835278">Orofacial malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poswillo DE</span><br />
|
||
<span class="medgenPMjournal">Proc R Soc Med</span>
|
||
1974 May;67(5):343-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4835278" target="_blank">4835278</a><a href="/pmc/articles/PMC1645559" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mandibulofacial%20dysostosis%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 (55)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37468803">Miller Fischer syndrome after COVID-19 infection and vaccine: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neophytou P,
|
||
Artemiadis A,
|
||
Hadjigeorgiou GM,
|
||
Zis P</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Belg</span>
|
||
2023 Oct;123(5):1693-1701.
|
||
Epub 2023 Jul 19
|
||
doi: 10.1007/s13760-023-02336-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37468803" target="_blank">37468803</a><a href="/pmc/articles/PMC10505097" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/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/32333448">EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thomas HB,
|
||
Wood KA,
|
||
Buczek WA,
|
||
Gordon CT,
|
||
Pingault V,
|
||
Attié-Bitach T,
|
||
Hentges KE,
|
||
Varghese VC,
|
||
Amiel J,
|
||
Newman WG,
|
||
O'Keefe RT</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2020 Aug;41(8):1372-1382.
|
||
Epub 2020 May 3
|
||
doi: 10.1002/humu.24027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32333448" target="_blank">32333448</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7832540">Ear surgery in Treacher Collins syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marres HA,
|
||
Cremers CW,
|
||
Marres EH,
|
||
Huygen PL</span><br />
|
||
<span class="medgenPMjournal">Ann Otol Rhinol Laryngol</span>
|
||
1995 Jan;104(1):31-41.
|
||
doi: 10.1177/000348949510400106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7832540" target="_blank">7832540</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2065490">Dental, orthodontic, and oral/maxillofacial evaluation and treatment in Apert syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferraro NF</span><br />
|
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<span class="medgenPMjournal">Clin Plast Surg</span>
|
||
1991 Apr;18(2):291-307.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2065490" target="_blank">2065490</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mandibulofacial%20dysostosis%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 (123)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<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,
|
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Brunswick C,
|
||
Inskeep K,
|
||
Capannari C,
|
||
Adam MP,
|
||
Begtrup A,
|
||
Bertola DR,
|
||
Demmer L,
|
||
Demo E,
|
||
Devinsky O,
|
||
Gallagher ER,
|
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Guillen Sacoto MJ,
|
||
Jech R,
|
||
Keren B,
|
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Kussmann J,
|
||
Ladda R,
|
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Lansdon LA,
|
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Lunke S,
|
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Mardy A,
|
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McWalters K,
|
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Person R,
|
||
Raiti L,
|
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Saitoh N,
|
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Saunders CJ,
|
||
Schnur R,
|
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Skorvanek M,
|
||
Sell SL,
|
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Slavotinek A,
|
||
Sullivan BR,
|
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Stark Z,
|
||
Symonds JD,
|
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Wenger T,
|
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Weber S,
|
||
Whalen S,
|
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White SM,
|
||
Winkelmann J,
|
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Zech M,
|
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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/27642715">Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Irving MD,
|
||
Dimitrov BI,
|
||
Wessels M,
|
||
Holder-Espinasse M,
|
||
Chitayat D,
|
||
Simpson MA</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 Dec;170(12):3133-3137.
|
||
Epub 2016 Sep 19
|
||
doi: 10.1002/ajmg.a.37946.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27642715" target="_blank">27642715</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27526242">Mutational Analysis of TCOF1, GSC, and HOXA2 in Patients With Treacher Collins Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hao S,
|
||
Jin L,
|
||
Wang H,
|
||
Li C,
|
||
Zheng F,
|
||
Ma D,
|
||
Zhang T</span><br />
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<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2016 Sep;27(6):e583-6.
|
||
doi: 10.1097/SCS.0000000000002934.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27526242" target="_blank">27526242</a><a href="/pmc/articles/PMC5023764" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25066427">The use of 3D planning in facial surgery: preliminary observations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoarau R,
|
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Zweifel D,
|
||
Simon C,
|
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Broome M</span><br />
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<span class="medgenPMjournal">Rev Stomatol Chir Maxillofac Chir Orale</span>
|
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2014 Dec;115(6):353-60.
|
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Epub 2014 Jul 24
|
||
doi: 10.1016/j.revsto.2014.07.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25066427" target="_blank">25066427</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11013442">High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Splendore A,
|
||
Silva EO,
|
||
Alonso LG,
|
||
Richieri-Costa A,
|
||
Alonso N,
|
||
Rosa A,
|
||
Carakushanky G,
|
||
Cavalcanti DP,
|
||
Brunoni D,
|
||
Passos-Bueno MR</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2000 Oct;16(4):315-22.
|
||
doi: 10.1002/1098-1004(200010)16:4<315::AID-HUMU4>3.0.CO;2-H.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11013442" target="_blank">11013442</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mandibulofacial%20dysostosis%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 (161)</a></div></div>
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||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37468803">Miller Fischer syndrome after COVID-19 infection and vaccine: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neophytou P,
|
||
Artemiadis A,
|
||
Hadjigeorgiou GM,
|
||
Zis P</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Belg</span>
|
||
2023 Oct;123(5):1693-1701.
|
||
Epub 2023 Jul 19
|
||
doi: 10.1007/s13760-023-02336-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37468803" target="_blank">37468803</a><a href="/pmc/articles/PMC10505097" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36203321">A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ulhaq ZS,
|
||
Nurputra DK,
|
||
Soraya GV,
|
||
Kurniawati S,
|
||
Istifiani LA,
|
||
Pamungkas SA,
|
||
Tse WKF</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2023 Feb;103(2):146-155.
|
||
Epub 2022 Oct 17
|
||
doi: 10.1111/cge.14243.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36203321" target="_blank">36203321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/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/29239919">Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amirhassankhani S,
|
||
Lloyd MS</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2018 Mar;29(2):372-375.
|
||
doi: 10.1097/SCS.0000000000004201.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29239919" target="_blank">29239919</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/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=%22Mandibulofacial%20dysostosis%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 (5)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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