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<meta name="keywords" content="C2676772, bilateral microtia-deafness-cleft palate syndrome, bilateral microtia-hearing loss-cleft palate syndrome, disease or syndrome, hoxa2, microtia with or without hearing impairment, microtia with or without hearing impairment (ad), microtia, hearing impairment, and cleft palate, microtia, hearing impairment, and cleft palate (ar), 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="A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Bilateral microtia-deafness-cleft palate syndrome (Concept Id: C2676772)
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<!--
|
||
UID=382936
|
||
ConceptID=C2676772
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Bilateral microtia-deafness-cleft palate syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382936</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C2676772</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>Microtia, hearing impairment, and cleft palate</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) 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) 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 jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="HOXA2 - ID: 3199 - NCBI Gene" href="/gene/3199" class="medgenPMinfo">HOXA2</a> (7p15.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012854" target="_blank">MONDO:0012854</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/612290" target="_blank">612290</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=140963">ORPHA140963</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">A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. [from <a title="Orphanet Rare Disease Ontology (ORDO)" href="http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php" class="defSource" target="_blank">ORDO</a>]</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_57535"><div><strong>Microtia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57535</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0152423</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the external ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57535">Feature record</a> | <a href="/medgen?term=%22Microtia%22%5BClinical%20Features%5D%20OR%2057535%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_102336"><div><strong>Mixed hearing impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>102336</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.">C0155552</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/102336">Feature record</a> | <a href="/medgen?term=%22Mixed%20hearing%20impairment%22%5BClinical%20Features%5D%20OR%20102336%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140758"><div><strong>Stenosis of the external auditory canal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140758</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.">C0395837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal narrowing of the external auditory canal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140758">Feature record</a> | <a href="/medgen?term=%22Stenosis%20of%20the%20external%20auditory%20canal%22%5BClinical%20Features%5D%20OR%20140758%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_325239"><div><strong>Overfolded helix</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325239</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.">C1837731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/325239">Feature record</a> | <a href="/medgen?term=%22Overfolded%20helix%22%5BClinical%20Features%5D%20OR%20325239%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1627011"><div><strong>Increased incisura length</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1627011</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.">C4531262</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The length of the incisura from the upper to lower border is greater than that observed in the average population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1627011">Feature record</a> | <a href="/medgen?term=%22Increased%20incisura%20length%22%5BClinical%20Features%5D%20OR%201627011%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_756015"><div><strong>Cleft palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>756015</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2981150</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/756015">Feature record</a> | <a href="/medgen?term=%22Cleft%20palate%22%5BClinical%20Features%5D%20OR%20756015%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1627011" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased incisura length</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_102336" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mixed hearing impairment</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_325239" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Overfolded helix</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140758" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stenosis of the external auditory canal</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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2676772[DISCUI]&test_type=Clinical" ref="ncbi_uid=382936">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=382936" target="_blank" href="/omim/604685">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=382936" ref="ncbi_uid=382936">V</a></span></span><span class="TLline">Bilateral microtia-deafness-cleft palate syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842690" ref="tree=MeSH" title="MedGen record for Mendelian syndromes with cleft lip/palate">Mendelian syndromes with cleft lip/palate</a></span><ul><li><span class="matched_ds">Bilateral microtia-deafness-cleft palate syndrome</span></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&data_id=156&PatId=17010&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Bilateral microtia-deafness-cleft palate 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/38321523">Oral findings and comprehensive dental management of Moebius syndrome: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alarcón-Sánchez MA,
|
||
Romero-Servin S,
|
||
Yessayan L,
|
||
Mosaddad SA,
|
||
Heboyan A</span><br />
|
||
<span class="medgenPMjournal">BMC Oral Health</span>
|
||
2024 Feb 6;24(1):192.
|
||
doi: 10.1186/s12903-024-03968-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38321523" target="_blank">38321523</a><a href="/pmc/articles/PMC10845393" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37351863">Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome: Ocular Findings and Surgical Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grauhan LD,
|
||
Gericke A,
|
||
Brueggemann FB,
|
||
Pfeiffer N,
|
||
Wasielica-Poslednik J</span><br />
|
||
<span class="medgenPMjournal">Cornea</span>
|
||
2023 Sep 1;42(9):1172-1175.
|
||
Epub 2023 Jun 21
|
||
doi: 10.1097/ICO.0000000000003295.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37351863" target="_blank">37351863</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37073546">Long-term treatment outcome of patients with complete bilateral cleft lip and palate: a retrospective cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hattori Y,
|
||
Pai BC,
|
||
Saito T,
|
||
Chou PY,
|
||
Lu TC,
|
||
Chang CS,
|
||
Chen YR,
|
||
Lo LJ</span><br />
|
||
<span class="medgenPMjournal">Int J Surg</span>
|
||
2023 Jun 1;109(6):1656-1667.
|
||
doi: 10.1097/JS9.0000000000000406.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37073546" target="_blank">37073546</a><a href="/pmc/articles/PMC10389451" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(bilateral%20microtia-deafness-cleft%20palate%20syndrome)%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 (15)</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/35593077">Squamosal Suture Synostosis: An Under-Recognized Phenomenon.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">W Beiriger J,
|
||
Zhu X,
|
||
Bruce MK,
|
||
Irgebay Z,
|
||
Smetona J,
|
||
Losee JE,
|
||
Goldstein JA</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
2023 Oct;60(10):1267-1272.
|
||
Epub 2022 May 20
|
||
doi: 10.1177/10556656221100675.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35593077" target="_blank">35593077</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35729285">Tooth abnormalities associated with non-syndromic cleft lip and palate: systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fonseca-Souza G,
|
||
de Oliveira LB,
|
||
Wambier LM,
|
||
Scariot R,
|
||
Feltrin-Souza J</span><br />
|
||
<span class="medgenPMjournal">Clin Oral Investig</span>
|
||
2022 Aug;26(8):5089-5103.
|
||
Epub 2022 Jun 21
|
||
doi: 10.1007/s00784-022-04540-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35729285" target="_blank">35729285</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32864997">Cleft Lip and Palate in Ectodermal Dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ganske IM,
|
||
Irwin T,
|
||
Langa O,
|
||
Upton J 3rd,
|
||
Tan WH,
|
||
Mulliken JB</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
2021 Feb;58(2):237-243.
|
||
Epub 2020 Aug 30
|
||
doi: 10.1177/1055665620949124.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32864997" target="_blank">32864997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29088690">Cleft Lip and Palate Repair.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gatti GL,
|
||
Freda N,
|
||
Giacomina A,
|
||
Montemagni M,
|
||
Sisti A</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2017 Nov;28(8):1918-1924.
|
||
doi: 10.1097/SCS.0000000000003820.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29088690" target="_blank">29088690</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17145565">Guillain-Barré syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gurwood AS,
|
||
Drake J</span><br />
|
||
<span class="medgenPMjournal">Optometry</span>
|
||
2006 Nov;77(11):540-6.
|
||
doi: 10.1016/j.optm.2006.06.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17145565" target="_blank">17145565</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bilateral%20microtia-deafness-cleft%20palate%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 (260)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35593077">Squamosal Suture Synostosis: An Under-Recognized Phenomenon.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">W Beiriger J,
|
||
Zhu X,
|
||
Bruce MK,
|
||
Irgebay Z,
|
||
Smetona J,
|
||
Losee JE,
|
||
Goldstein JA</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
2023 Oct;60(10):1267-1272.
|
||
Epub 2022 May 20
|
||
doi: 10.1177/10556656221100675.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35593077" target="_blank">35593077</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35791181">Ankyloblepharon-ectodermal dysplasia-clefting syndrome: Surgical and medical management in an infant with bilateral corneal perforations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hossain RR,
|
||
Ng SGJ,
|
||
Chong C,
|
||
Botha VE,
|
||
Ferguson R,
|
||
McKelvie J</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2022 Jul;70(7):2633-2635.
|
||
doi: 10.4103/ijo.IJO_2534_21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35791181" target="_blank">35791181</a><a href="/pmc/articles/PMC9426061" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35055138">Orofacial Cleft and Mandibular Prognathism-Human Genetics and Animal Models.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jaruga A,
|
||
Ksiazkiewicz J,
|
||
Kuzniarz K,
|
||
Tylzanowski P</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Jan 16;23(2)
|
||
doi: 10.3390/ijms23020953.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35055138" target="_blank">35055138</a><a href="/pmc/articles/PMC8779325" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28676249">Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Waldrop MA,
|
||
Boue DR,
|
||
Sites E,
|
||
Flanigan KM,
|
||
Shell R</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2017 Sep;74:11-14.
|
||
Epub 2017 Feb 4
|
||
doi: 10.1016/j.pediatrneurol.2017.01.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28676249" target="_blank">28676249</a><a href="/pmc/articles/PMC5544583" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17145565">Guillain-Barré syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gurwood AS,
|
||
Drake J</span><br />
|
||
<span class="medgenPMjournal">Optometry</span>
|
||
2006 Nov;77(11):540-6.
|
||
doi: 10.1016/j.optm.2006.06.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17145565" target="_blank">17145565</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bilateral%20microtia-deafness-cleft%20palate%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 (372)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35729285">Tooth abnormalities associated with non-syndromic cleft lip and palate: systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fonseca-Souza G,
|
||
de Oliveira LB,
|
||
Wambier LM,
|
||
Scariot R,
|
||
Feltrin-Souza J</span><br />
|
||
<span class="medgenPMjournal">Clin Oral Investig</span>
|
||
2022 Aug;26(8):5089-5103.
|
||
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<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
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Epub 2020 Aug 30
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<span class="bold">PMID: </span><a href="/pubmed/32864997" target="_blank">32864997</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30787447">A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Palumbo P,
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Petracca A,
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Maggi R,
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<div class="nl"><a target="_blank" href="/pubmed/17145565">Guillain-Barré syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gurwood AS,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bilateral%20microtia-deafness-cleft%20palate%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 (117)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35729285">Tooth abnormalities associated with non-syndromic cleft lip and palate: systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fonseca-Souza G,
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doi: 10.1007/s00784-022-04540-8.
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<span class="bold">PMID: </span><a href="/pubmed/35729285" target="_blank">35729285</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33971761">Audiologic and Otologic Clinical Manifestations of Loeys-Dietz Syndrome: A Heritable Connective Tissue Disorder.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jeon JW,
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Christensen J,
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Chisholm J,
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Zalewski C,
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Rasooly M,
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Dempsey C,
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Magnani A,
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<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
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Epub 2021 May 11
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doi: 10.1177/01945998211008899.
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<span class="bold">PMID: </span><a href="/pubmed/33971761" target="_blank">33971761</a><a href="/pmc/articles/PMC11007485" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30787447">A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Palumbo P,
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Petracca A,
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Maggi R,
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Biagini T,
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Nardella G,
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Sacco MC,
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Di Schiavi E,
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Carella M,
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Micale L,
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Castori M</span><br />
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<span class="medgenPMjournal">Eur J Hum Genet</span>
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2019 Jul;27(7):1113-1120.
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<div class="nl"><a target="_blank" href="/pubmed/29088690">Cleft Lip and Palate Repair.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gatti GL,
|
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Freda N,
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Giacomina A,
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Montemagni M,
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Sisti A</span><br />
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<span class="medgenPMjournal">J Craniofac Surg</span>
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2017 Nov;28(8):1918-1924.
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doi: 10.1097/SCS.0000000000003820.
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<span class="bold">PMID: </span><a href="/pubmed/29088690" target="_blank">29088690</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/20210637">Oral-facial-digital syndrome type 1: oral features in 12 patients submitted to clinical and radiographic examination.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tagliani MM,
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Gomide MR,
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Carrara CF</span><br />
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<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bilateral%20microtia-deafness-cleft%20palate%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 (157)</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/38095226">A systematic review of differences in outcome between one and two stage palate repair in cleft lip and palate.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Cornefjord M,
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Arnebrant K,
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Guné H,
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Holst J,
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Klintö K,
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Stiernman M,
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Svensson H,
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Wiedel AP,
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Becker M</span><br />
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<span class="medgenPMjournal">J Plast Surg Hand Surg</span>
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2023 Dec 14;58:132-141.
|
||
doi: 10.2340/jphs.v58.13368.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38095226" target="_blank">38095226</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34787478">Cranial Base Angle in Patients With Cleft Lip and Palate-A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Murugan C,
|
||
Kailasam V</span><br />
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<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
2023 Jan;60(1):39-54.
|
||
Epub 2021 Nov 17
|
||
doi: 10.1177/10556656211053545.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34787478" target="_blank">34787478</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35729285">Tooth abnormalities associated with non-syndromic cleft lip and palate: systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fonseca-Souza G,
|
||
de Oliveira LB,
|
||
Wambier LM,
|
||
Scariot R,
|
||
Feltrin-Souza J</span><br />
|
||
<span class="medgenPMjournal">Clin Oral Investig</span>
|
||
2022 Aug;26(8):5089-5103.
|
||
Epub 2022 Jun 21
|
||
doi: 10.1007/s00784-022-04540-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35729285" target="_blank">35729285</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34690318">Midface Growth Potential in Unoperated Clefts: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wlodarczyk JR,
|
||
Munabi NCO,
|
||
Wolfswinkel E,
|
||
Nagengast E,
|
||
Higuch EC,
|
||
Turk M,
|
||
Urata MM,
|
||
Hammoudeh JA,
|
||
Yao C,
|
||
Magee W 3rd</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2022 May 1;33(3):774-778.
|
||
Epub 2021 Oct 21
|
||
doi: 10.1097/SCS.0000000000008296.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34690318" target="_blank">34690318</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34670449">Eye and ocular adnexa manifestations of MED12-related disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah A,
|
||
Bapna M,
|
||
Al-Saif H,
|
||
Li R,
|
||
Couser NL</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2022 Feb;43(1):126-129.
|
||
Epub 2021 Oct 20
|
||
doi: 10.1080/13816810.2021.1989601.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34670449" target="_blank">34670449</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bilateral%20microtia-deafness-cleft%20palate%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 (7)</a></div></div>
|
||
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|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2676772%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C2676772%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C2676772%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2676772%5bDISCUI%5d" target="_blank">See all (8)</a></total></li>
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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=(bilateral%20microtia-deafness-cleft%20palate%20syndrome)%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(%22Bilateral%20microtia-deafness-cleft%20palate%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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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb496984f3725e5907f1da">Bilateral microtia-deafness-cleft palate syndrome</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cb4966f4a390645e0cdf1e">Bilateral frontoparietal polymicrogyria</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cb4966b15b832ebcd6fb71">C1847352[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(111)</span></a>
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