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<meta name="keywords" content="C0240309, anatomical abnormality, big midface, hyperplasia of midface, hypertrophy of midface, large midface, midface hyperplasia, midfacial excess, midfacial prominence, overgrowth of the midface, 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="Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face" /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Hyperplasia of midface (Concept Id: C0240309)
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<!--
UID=451009
ConceptID=C0240309
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hyperplasia of midface</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>451009</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.">C0240309</a></dd><dt><span class="dotprefix"></span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Big midface; Hypertrophy of midface; Large midface; Midface hyperplasia; Midfacial excess; Midfacial prominence; Overgrowth of the midface</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:0012371">HP:0012371</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_100">
<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">Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Hyperplasia of midface</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867442" ref="tree=MeSH" title="MedGen record for Abnormality of head or neck">Abnormality of head or neck</a></span><ul><li><span class="TLline"><a href="/medgen/867438" ref="tree=MeSH" title="MedGen record for Abnormality of the head">Abnormality of the head</a></span><ul><li><span class="TLline"><a href="/medgen/871375" ref="tree=MeSH" title="MedGen record for Abnormality of the face">Abnormality of the face</a></span><ul><li><span class="TLline"><a href="/medgen/867437" ref="tree=MeSH" title="MedGen record for Abnormal midface morphology">Abnormal midface morphology</a></span><ul><li><span class="matched_ds">Hyperplasia of midface</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<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>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_97950"><div><strong>Troyer syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>97950</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:">C0393559</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Troyer syndrome is characterized by progressive spastic paraparesis, dysarthria, pseudobulbar palsy, distal amyotrophy, short stature, and subtle skeletal abnormalities. Most affected children exhibit delays in walking and speech and difficulty in managing oral secretions, followed by increased lower-limb spasticity and slow deterioration in both gait and speech. Mild cerebellar signs are common. The most severely affected individuals have choreoathetosis. Emotional lability / difficulty in controlling emotions and affective disorders, such as inappropriate euphoria and/or crying, are frequently described. Life expectancy is normal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/97950">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_370148"><div><strong>Craniofacial dysplasia - osteopenia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370148</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.">C1970027</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare genetic developmental defect during embryogenesis disorder with characteristics of craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. There is evidence the disease can be caused by homozygous mutation in the IRX5 gene on chromosome 16q11.2.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/370148">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_370203"><div><strong>Polyhydramnios, megalencephaly, and symptomatic epilepsy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370203</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.">C1970203</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare genetic neurological disorder with characteristics of pregnancy complicated by polyhydramnios, severe intractable epilepsy presenting in infancy, severe hypotonia, decreased muscle mass, global developmental delay, craniofacial dysmorphism (long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips), and macrocephaly due to megalencephaly and hydrocephalus in most patients. Additional features that have been reported include cardiac anomalies like atrial septal defects, diabetes insipidus and nephrocalcinosis among others.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/370203">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_481571"><div><strong>Stickler syndrome, type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481571</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.">C3279941</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Pierre Robin sequence); and early-onset degenerative joint disease. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/481571">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934614"><div><strong>Seckel syndrome 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934614</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.">C4310647</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934614">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370148" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniofacial dysplasia - osteopenia syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370203" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyhydramnios, megalencephaly, and symptomatic epilepsy</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934614" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seckel syndrome 10</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481571" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stickler syndrome, type 4</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_97950" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Troyer syndrome</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/24742699">Use of the matching optimal symmetry plane method in planning surgical correction of facial asymmetry--a preliminary report of 20 patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wong TY,
Liu JK,
Fang JJ,
Wu TC,
Tu YH</span><br />
<span class="medgenPMjournal">J Oral Maxillofac Surg</span>
2014 Jun;72(6):1180.e1-13.
Epub 2014 Feb 18
doi: 10.1016/j.joms.2014.02.020.
<span class="bold">PMID: </span><a href="/pubmed/24742699" target="_blank">24742699</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21519579">Folliculosebaceous cystic hamartoma of the upper lip and labial mucosa.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Islam MN,
Cohen DM,
Bhattacharyya I</span><br />
<span class="medgenPMjournal">Quintessence Int</span>
2011 Jun;42(6):e75-7.
<span class="bold">PMID: </span><a href="/pubmed/21519579" target="_blank">21519579</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperplasia%20of%20midface%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 (2)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/24742699">Use of the matching optimal symmetry plane method in planning surgical correction of facial asymmetry--a preliminary report of 20 patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wong TY,
Liu JK,
Fang JJ,
Wu TC,
Tu YH</span><br />
<span class="medgenPMjournal">J Oral Maxillofac Surg</span>
2014 Jun;72(6):1180.e1-13.
Epub 2014 Feb 18
doi: 10.1016/j.joms.2014.02.020.
<span class="bold">PMID: </span><a href="/pubmed/24742699" target="_blank">24742699</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24288143">Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: novel association with Pectus carinatum in a molecularly confirmed case and review of the fetal phenotype.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Konstantinidou AE,
Tasoulas J,
Kallipolitis G,
Gasparatos S,
Velissariou V,
Paraskevakou H</span><br />
<span class="medgenPMjournal">Birth Defects Res A Clin Mol Teratol</span>
2013 Dec;97(12):774-80.
Epub 2013 Nov 29
doi: 10.1002/bdra.23202.
<span class="bold">PMID: </span><a href="/pubmed/24288143" target="_blank">24288143</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22749574">Robust and regional 3D facial asymmetry assessment in hemimandibular hyperplasia and hemimandibular elongation anomalies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Walters M,
Claes P,
Kakulas E,
Clement JG</span><br />
<span class="medgenPMjournal">Int J Oral Maxillofac Surg</span>
2013 Jan;42(1):36-42.
Epub 2012 Jun 30
doi: 10.1016/j.ijom.2012.05.021.
<span class="bold">PMID: </span><a href="/pubmed/22749574" target="_blank">22749574</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21519579">Folliculosebaceous cystic hamartoma of the upper lip and labial mucosa.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Islam MN,
Cohen DM,
Bhattacharyya I</span><br />
<span class="medgenPMjournal">Quintessence Int</span>
2011 Jun;42(6):e75-7.
<span class="bold">PMID: </span><a href="/pubmed/21519579" target="_blank">21519579</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9487898">Bilateral coronoid hyperplasia: an important cause of restricted mandibular motion.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hicks JL,
Iverson PH</span><br />
<span class="medgenPMjournal">Northwest Dent</span>
1993 Jul-Aug;72(4):21-4.
<span class="bold">PMID: </span><a href="/pubmed/9487898" target="_blank">9487898</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperplasia%20of%20midface%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/24742699">Use of the matching optimal symmetry plane method in planning surgical correction of facial asymmetry--a preliminary report of 20 patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wong TY,
Liu JK,
Fang JJ,
Wu TC,
Tu YH</span><br />
<span class="medgenPMjournal">J Oral Maxillofac Surg</span>
2014 Jun;72(6):1180.e1-13.
Epub 2014 Feb 18
doi: 10.1016/j.joms.2014.02.020.
<span class="bold">PMID: </span><a href="/pubmed/24742699" target="_blank">24742699</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21519579">Folliculosebaceous cystic hamartoma of the upper lip and labial mucosa.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Islam MN,
Cohen DM,
Bhattacharyya I</span><br />
<span class="medgenPMjournal">Quintessence Int</span>
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<span class="bold">PMID: </span><a href="/pubmed/21519579" target="_blank">21519579</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperplasia%20of%20midface%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/24742699">Use of the matching optimal symmetry plane method in planning surgical correction of facial asymmetry--a preliminary report of 20 patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wong TY,
Liu JK,
Fang JJ,
Wu TC,
Tu YH</span><br />
<span class="medgenPMjournal">J Oral Maxillofac Surg</span>
2014 Jun;72(6):1180.e1-13.
Epub 2014 Feb 18
doi: 10.1016/j.joms.2014.02.020.
<span class="bold">PMID: </span><a href="/pubmed/24742699" target="_blank">24742699</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperplasia%20of%20midface%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 (1)</a></div></div>
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