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<meta name="keywords" content="C3553077, disease or syndrome, mcops11, microphthalmia, syndromic 11, microphthalmia, syndromic type 11, syndromic microphthalmia caused by mutation in vax1, vax1, vax1 syndromic microphthalmia, 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="Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=765991
|
||
ConceptID=C3553077
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Microphthalmia, syndromic 11<span class="h1sub">(MCOPS11)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>765991</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:">C3553077</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>MCOPS11</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="VAX1 - ID: 11023 - NCBI Gene" href="/gene/11023" class="medgenPMinfo">VAX1</a> (10q25.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013734" target="_blank">MONDO:0013734</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/614402" target="_blank">614402</a></td></tr>
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</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">Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_102">
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<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>
|
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_104498"><div><strong>Corpus callosum, agenesis of</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>104498</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.">C0175754</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/104498">Feature record</a> | <a href="/medgen?term=%22Corpus%20callosum%2C%20agenesis%20of%22%5BClinical%20Features%5D%20OR%20104498%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1611479"><div><strong>Hippocampal malrotation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1611479</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.">C4539733</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hippocampal malrotation, also termed incomplete inversion of the hippocampus or hippocampal malformation, is an increasingly recognized neuroimaging finding of undetermined clinical significance. It is characterized by features including (i) Round or pyramidal shape instead of ovoid shape; (ii) Medial position of the hippocampus on the hippocampal sulcus; (iii) The collateral sulcus is excessively deep or verticalized; (iv) Fimbria located medial to the hippocampus; (v) Small or displaced fornix; (vi) Enlarged temporal horn and empty choroid fissure; (vii) Thickened subiculum; (viii) Reduced upper horizontal portion of the parahippocampal gyrus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1611479">Feature record</a> | <a href="/medgen?term=%22Hippocampal%20malrotation%22%5BClinical%20Features%5D%20OR%201611479%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_40327"><div><strong>Cleft upper lip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>40327</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.">C0008924</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/40327">Feature record</a> | <a href="/medgen?term=%22Cleft%20upper%20lip%22%5BClinical%20Features%5D%20OR%2040327%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_756015"><div><strong>Cleft palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>756015</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2981150</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/756015">Feature record</a> | <a href="/medgen?term=%22Cleft%20palate%22%5BClinical%20Features%5D%20OR%20756015%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_765992"><div><strong>Agenesis of pineal gland</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>765992</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.">C3553078</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/765992">Feature record</a> | <a href="/medgen?term=%22Agenesis%20of%20pineal%20gland%22%5BClinical%20Features%5D%20OR%20765992%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10033"><div><strong>Microphthalmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10033</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.">C0026010</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10033">Feature record</a> | <a href="/medgen?term=%22Microphthalmia%22%5BClinical%20Features%5D%20OR%2010033%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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_40327" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleft upper lip</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_765992" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agenesis of pineal gland</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_104498" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corpus callosum, agenesis of</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1611479" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hippocampal malrotation</a></span></li></ul></li></ul></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/34767027">Assessment of Risk of Hereditary Predisposition in Patients With Melanoma and/or Mesothelioma and Renal Neoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta S,
|
||
Erickson LA,
|
||
Lohse CM,
|
||
Shen W,
|
||
Pitel BA,
|
||
Knight SM,
|
||
Halling KC,
|
||
Herrera-Hernandez L,
|
||
Boorjian SA,
|
||
Thompson RH,
|
||
Leibovich BC,
|
||
Jimenez RE,
|
||
Cheville JC</span><br />
|
||
<span class="medgenPMjournal">JAMA Netw Open</span>
|
||
2021 Nov 1;4(11):e2132615.
|
||
doi: 10.1001/jamanetworkopen.2021.32615.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34767027" target="_blank">34767027</a><a href="/pmc/articles/PMC8590170" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32436650">Children and young adults with anophthalmia and microphthalmia: Diagnosis and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taha Najim R,
|
||
Topa A,
|
||
Jugård Y,
|
||
Casslén B,
|
||
Odersjö M,
|
||
Andersson Grönlund M</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2020 Dec;98(8):848-858.
|
||
Epub 2020 May 21
|
||
doi: 10.1111/aos.14427.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32436650" target="_blank">32436650</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24661331">Advances in renal neoplasia: recommendations from the 2012 International Society of Urological Pathology Consensus Conference.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Delahunt B,
|
||
Srigley JR,
|
||
Montironi R,
|
||
Egevad L</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
2014 May;83(5):969-74.
|
||
Epub 2014 Mar 22
|
||
doi: 10.1016/j.urology.2014.02.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24661331" target="_blank">24661331</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(microphthalmia%2C%20syndromic%2011)%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 (5)</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/38019886">Morphological and functional cardiac alterations in children with congenital Zika syndrome and severe neurological deficits.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barbosa ICQ,
|
||
de Paula Gomes L,
|
||
de Almeida Feitosa IN,
|
||
Botelho LFB,
|
||
Barbosa BRC,
|
||
Barbosa A,
|
||
Araújo ATV,
|
||
Melo MDT,
|
||
Melo ASO,
|
||
Salemi VMC</span><br />
|
||
<span class="medgenPMjournal">PLoS Negl Trop Dis</span>
|
||
2023 Nov;17(11):e0011762.
|
||
Epub 2023 Nov 29
|
||
doi: 10.1371/journal.pntd.0011762.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38019886" target="_blank">38019886</a><a href="/pmc/articles/PMC10712894" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36168701">The association of nausea and vomiting of pregnancy, its treatments, and select birth defects: Findings from the National Birth Defect Prevention Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schrager NL,
|
||
Parker SE,
|
||
Werler MM;
|
||
for the National Birth Defects Prevention Study</span><br />
|
||
<span class="medgenPMjournal">Birth Defects Res</span>
|
||
2023 Feb 1;115(3):275-289.
|
||
Epub 2022 Sep 27
|
||
doi: 10.1002/bdr2.2096.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36168701" target="_blank">36168701</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34767027">Assessment of Risk of Hereditary Predisposition in Patients With Melanoma and/or Mesothelioma and Renal Neoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta S,
|
||
Erickson LA,
|
||
Lohse CM,
|
||
Shen W,
|
||
Pitel BA,
|
||
Knight SM,
|
||
Halling KC,
|
||
Herrera-Hernandez L,
|
||
Boorjian SA,
|
||
Thompson RH,
|
||
Leibovich BC,
|
||
Jimenez RE,
|
||
Cheville JC</span><br />
|
||
<span class="medgenPMjournal">JAMA Netw Open</span>
|
||
2021 Nov 1;4(11):e2132615.
|
||
doi: 10.1001/jamanetworkopen.2021.32615.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34767027" target="_blank">34767027</a><a href="/pmc/articles/PMC8590170" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27562378">Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bademci G,
|
||
Cengiz FB,
|
||
Foster Ii J,
|
||
Duman D,
|
||
Sennaroglu L,
|
||
Diaz-Horta O,
|
||
Atik T,
|
||
Kirazli T,
|
||
Olgun L,
|
||
Alper H,
|
||
Menendez I,
|
||
Loclar I,
|
||
Sennaroglu G,
|
||
Tokgoz-Yilmaz S,
|
||
Guo S,
|
||
Olgun Y,
|
||
Mahdieh N,
|
||
Bonyadi M,
|
||
Bozan N,
|
||
Ayral A,
|
||
Ozkinay F,
|
||
Yildirim-Baylan M,
|
||
Blanton SH,
|
||
Tekin M</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2016 Aug 26;6:31622.
|
||
doi: 10.1038/srep31622.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27562378" target="_blank">27562378</a><a href="/pmc/articles/PMC4999867" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19842203">Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saunders CJ,
|
||
Zhao W,
|
||
Ardinger HH</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2009 Nov;149A(11):2527-31.
|
||
doi: 10.1002/ajmg.a.33067.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19842203" target="_blank">19842203</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microphthalmia%2C%20syndromic%2011%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 (32)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37163579">SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Okoye O,
|
||
Capasso J,
|
||
Kopinsky SM,
|
||
Amlie-Wolf L,
|
||
Levin AV,
|
||
Schneider A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2023 Aug;191(8):2198-2203.
|
||
Epub 2023 May 10
|
||
doi: 10.1002/ajmg.a.63239.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37163579" target="_blank">37163579</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32121044">Does DNA Methylation Matter in FSHD?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salsi V,
|
||
Magdinier F,
|
||
Tupler R</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2020 Feb 28;11(3)
|
||
doi: 10.3390/genes11030258.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32121044" target="_blank">32121044</a><a href="/pmc/articles/PMC7140823" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21163155">Conradi-Hünermann-Happle syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hartman RD,
|
||
Molho-Pessach V,
|
||
Schaffer JV</span><br />
|
||
<span class="medgenPMjournal">Dermatol Online J</span>
|
||
2010 Nov 15;16(11):4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21163155" target="_blank">21163155</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18039390">Anophthalmia and microphthalmia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verma AS,
|
||
Fitzpatrick DR</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2007 Nov 26;2:47.
|
||
doi: 10.1186/1750-1172-2-47.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18039390" target="_blank">18039390</a><a href="/pmc/articles/PMC2246098" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2818284">Simple microphthalmos.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weiss AH,
|
||
Kousseff BG,
|
||
Ross EA,
|
||
Longbottom J</span><br />
|
||
<span class="medgenPMjournal">Arch Ophthalmol</span>
|
||
1989 Nov;107(11):1625-30.
|
||
doi: 10.1001/archopht.1989.01070020703032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2818284" target="_blank">2818284</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microphthalmia%2C%20syndromic%2011%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 (64)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36168701">The association of nausea and vomiting of pregnancy, its treatments, and select birth defects: Findings from the National Birth Defect Prevention Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schrager NL,
|
||
Parker SE,
|
||
Werler MM;
|
||
for the National Birth Defects Prevention Study</span><br />
|
||
<span class="medgenPMjournal">Birth Defects Res</span>
|
||
2023 Feb 1;115(3):275-289.
|
||
Epub 2022 Sep 27
|
||
doi: 10.1002/bdr2.2096.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36168701" target="_blank">36168701</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33183341">Broad Spectrum epidemiological contribution of cannabis and other substances to the teratological profile of northern New South Wales: geospatial and causal inference analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reece AS,
|
||
Hulse GK</span><br />
|
||
<span class="medgenPMjournal">BMC Pharmacol Toxicol</span>
|
||
2020 Nov 12;21(1):75.
|
||
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|
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|
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<div class="portlet_content ln"><span class="medgenPMauthor">Caba L,
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Rusu C,
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Butnariu L,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microphthalmia%2C%20syndromic%2011%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 (8)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/32436650">Children and young adults with anophthalmia and microphthalmia: Diagnosis and Management.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/32436650" target="_blank">32436650</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32013026">Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Birtel J,
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Gliem M,
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Hess K,
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Birtel TH,
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Holz FG,
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Zechner U,
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Bolz HJ,
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Herrmann P</span><br />
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<span class="medgenPMjournal">Genes (Basel)</span>
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2020 Jan 28;11(2)
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||
<div class="nl"><a target="_blank" href="/pubmed/30200890">Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lin S,
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Harlalka GV,
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Hameed A,
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Reham HM,
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Muhammad N,
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||
<div class="nl"><a target="_blank" href="/pubmed/24661331">Advances in renal neoplasia: recommendations from the 2012 International Society of Urological Pathology Consensus Conference.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Delahunt B,
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Srigley JR,
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Egevad L</span><br />
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<span class="medgenPMjournal">Urology</span>
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2014 May;83(5):969-74.
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<span class="bold">PMID: </span><a href="/pubmed/24661331" target="_blank">24661331</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/22768674">Warburg Micro syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dursun F,
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Güven A,
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|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microphthalmia%2C%20syndromic%2011%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 (22)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32121044">Does DNA Methylation Matter in FSHD?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Salsi V,
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Magdinier F,
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Tupler R</span><br />
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<span class="medgenPMjournal">Genes (Basel)</span>
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2020 Feb 28;11(3)
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doi: 10.3390/genes11030258.
|
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<span class="bold">PMID: </span><a href="/pubmed/32121044" target="_blank">32121044</a><a href="/pmc/articles/PMC7140823" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30268123">New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pichiecchio A,
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Vitale G,
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Caporali C,
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Parazzini C,
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Milani D,
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Recalcati MP,
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D'Amico L,
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Signorini S,
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Balottin U,
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|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/26250054">SOX2 anophthalmia syndrome and dental anomalies.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Chacon-Camacho OF,
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Fuerte-Flores BI,
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Ricardez-Marcial EF,
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Zenteno JC</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
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2015 Nov;167A(11):2830-3.
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Epub 2015 Aug 6
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<span class="bold">PMID: </span><a href="/pubmed/26250054" target="_blank">26250054</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18039390">Anophthalmia and microphthalmia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verma AS,
|
||
Fitzpatrick DR</span><br />
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||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2007 Nov 26;2:47.
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<span class="bold">PMID: </span><a href="/pubmed/18039390" target="_blank">18039390</a><a href="/pmc/articles/PMC2246098" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/807986">Primary congenital aphakia and the rubella syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vermeif-Keers C</span><br />
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<span class="medgenPMjournal">Teratology</span>
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1975 Jun;11(3):257-65.
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|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microphthalmia%2C%20syndromic%2011%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 (47)</a></div></div>
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<div class="portlet mgSection" id="ID_104">
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/32217034">Ocular and adnexal anomalies in craniofacial microsomia: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rooijers W,
|
||
Caron CJJM,
|
||
Loudon SE,
|
||
Padwa BL,
|
||
Dunaway DJ,
|
||
Forrest CR,
|
||
Koudstaal MJ</span><br />
|
||
<span class="medgenPMjournal">Int J Oral Maxillofac Surg</span>
|
||
2020 Sep;49(9):1107-1114.
|
||
Epub 2020 Mar 23
|
||
doi: 10.1016/j.ijom.2020.03.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32217034" target="_blank">32217034</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microphthalmia%2C%20syndromic%2011%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 (1)</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_content ln"><ul><li><a href="/gtr/tests?term=C3553077%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (9)</a></li>
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<li><a href="/gtr/tests?term=C3553077%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (12)</a></li>
|
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<li><a href="/gtr/tests?term=C3553077%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3553077%5bDISCUI%5d" target="_blank">See all (13)</a></total></li>
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