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<meta name="keywords" content="C3809803, disease or syndrome, mcops12, microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects, microphthalmia, syndromic 12, microphthalmia, syndromic type 12, rarb, rarb syndromic microphthalmia, syndromic microphthalmia caused by mutation in rarb, syndromic microphthalmia-12, 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="Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=816133
|
||
ConceptID=C3809803
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Microphthalmia, syndromic 12<span class="h1sub">(MCOPS12)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816133</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:">C3809803</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>MCOPS12; MICROPHTHALMIA WITH OR WITHOUT PULMONARY HYPOPLASIA, DIAPHRAGMATIC HERNIA, AND/OR CARDIAC DEFECTS</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="RARB - ID: 5915 - NCBI Gene" href="/gene/5915" class="medgenPMinfo">RARB</a> (3p24.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014229" target="_blank">MONDO:0014229</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615524" target="_blank">615524</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
|
||
</div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_8192"><div><strong>Cryptorchidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8192</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0010417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8192">Feature record</a> | <a href="/medgen?term=%22Cryptorchidism%22%5BClinical%20Features%5D%20OR%208192%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78599"><div><strong>Bicornuate uterus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78599</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.">C0266387</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a bicornuate uterus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78599">Feature record</a> | <a href="/medgen?term=%22Bicornuate%20uterus%22%5BClinical%20Features%5D%20OR%2078599%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42366"><div><strong>Ventricular septal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42366</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.">C0018818</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42366">Feature record</a> | <a href="/medgen?term=%22Ventricular%20septal%20defect%22%5BClinical%20Features%5D%20OR%2042366%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_370300"><div><strong>Hypoplastic left atrium</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370300</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.">C1970625</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdeveloped, small left heart atrium</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370300">Feature record</a> | <a href="/medgen?term=%22Hypoplastic%20left%20atrium%22%5BClinical%20Features%5D%20OR%20370300%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_113153"><div><strong>Intestinal malrotation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113153</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.">C0221210</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113153">Feature record</a> | <a href="/medgen?term=%22Intestinal%20malrotation%22%5BClinical%20Features%5D%20OR%20113153%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44428"><div><strong>Micrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44428</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0025990</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental hypoplasia of the mandible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44428">Feature record</a> | <a href="/medgen?term=%22Micrognathia%22%5BClinical%20Features%5D%20OR%2044428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19766"><div><strong>Retrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19766</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.">C0035353</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality in which the mandible is mislocalised posteriorly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19766">Feature record</a> | <a href="/medgen?term=%22Retrognathia%22%5BClinical%20Features%5D%20OR%2019766%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68625"><div><strong>Congenital diaphragmatic hernia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68625</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.">C0235833</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a hernia of the diaphragm present at birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68625">Feature record</a> | <a href="/medgen?term=%22Congenital%20diaphragmatic%20hernia%22%5BClinical%20Features%5D%20OR%2068625%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78574"><div><strong>Pulmonary hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78574</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.">C0265783</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78574">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20hypoplasia%22%5BClinical%20Features%5D%20OR%2078574%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98424"><div><strong>Broad nasal tip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98424</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.">C0426429</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increase in width of the nasal tip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98424">Feature record</a> | <a href="/medgen?term=%22Broad%20nasal%20tip%22%5BClinical%20Features%5D%20OR%2098424%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341441"><div><strong>Wide nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341441</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.">C1849367</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased breadth of the nasal bridge (and with it, the nasal root).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341441">Feature record</a> | <a href="/medgen?term=%22Wide%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20341441%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_314"><div><strong>Anophthalmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>314</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.">C0003119</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of the globe or eyeball.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/314">Feature record</a> | <a href="/medgen?term=%22Anophthalmia%22%5BClinical%20Features%5D%20OR%20314%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_98424" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad nasal tip</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_756015" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleft palate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341441" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wide nasal bridge</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_370300" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplastic left atrium</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular septal defect</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113153" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intestinal malrotation</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_314" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anophthalmia</a></span></li><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 genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78599" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bicornuate uterus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8192" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cryptorchidism</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68625" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital diaphragmatic hernia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micrognathia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retrognathia</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_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78574" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary hypoplasia</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/40038803">Management of anophthalmia, microphthalmia and coloboma in the newborn, shared care between neonatologist and ophthalmologist: a literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Russo M,
|
||
Palmeri S,
|
||
Zucconi A,
|
||
Vagge A,
|
||
Arioni C</span><br />
|
||
<span class="medgenPMjournal">Ital J Pediatr</span>
|
||
2025 Mar 5;51(1):65.
|
||
doi: 10.1186/s13052-025-01882-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/40038803" target="_blank">40038803</a><a href="/pmc/articles/PMC11881466" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28903138">Improvement of Genetic Testing for Cutaneous Melanoma in Countries With Low to Moderate Incidence: The Rule of 2 vs the Rule of 3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Delaunay J,
|
||
Martin L,
|
||
Bressac-de Paillerets B,
|
||
Duru G,
|
||
Ingster O,
|
||
Thomas L</span><br />
|
||
<span class="medgenPMjournal">JAMA Dermatol</span>
|
||
2017 Nov 1;153(11):1122-1129.
|
||
doi: 10.1001/jamadermatol.2017.2926.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28903138" target="_blank">28903138</a><a href="/pmc/articles/PMC5710425" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27061523">Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Busa T,
|
||
Legendre M,
|
||
Bauge M,
|
||
Quarello E,
|
||
Bretelle F,
|
||
Bilan F,
|
||
Sigaudy S,
|
||
Gilbert-Dussardier B,
|
||
Philip N</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2016 Jun;36(6):561-7.
|
||
Epub 2016 May 12
|
||
doi: 10.1002/pd.4825.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27061523" target="_blank">27061523</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(microphthalmia%2C%20syndromic%2012)%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 (4)</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/37493047">Cryptophthalmos: associated syndromes and genetic disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Landau-Prat D,
|
||
Kim DH,
|
||
Bautista S,
|
||
Strong A,
|
||
Revere KE,
|
||
Katowitz WR,
|
||
Katowitz JA</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2023 Dec;44(6):547-552.
|
||
Epub 2023 Jul 26
|
||
doi: 10.1080/13816810.2023.2237568.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37493047" target="_blank">37493047</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31874848">Transscleral cyclophotocoagulation as primary management in a nanophthalmic eye with anterior uveitis and secondary mixed mechanism glaucoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bromeo AJ,
|
||
Bartilad K</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2019 Dec 23;12(12)
|
||
doi: 10.1136/bcr-2019-232281.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31874848" target="_blank">31874848</a><a href="/pmc/articles/PMC6936424" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30877130">Extensive circumferential partial-thickness sclerectomy in eyes with extreme nanophthalmos and spontaneous uveal effusion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mansour A,
|
||
Stewart MW,
|
||
Shields CL,
|
||
Hamam R,
|
||
Abdul Fattah M,
|
||
Sheheitli H,
|
||
Mehanna CJ,
|
||
Yassine S,
|
||
Chahine H,
|
||
Keaik M,
|
||
Maalouf F,
|
||
Jaroudi M</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2019 Dec;103(12):1862-1867.
|
||
Epub 2019 Mar 15
|
||
doi: 10.1136/bjophthalmol-2018-313702.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30877130" target="_blank">30877130</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8661044">Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schaefer L,
|
||
Ballabio A,
|
||
Zoghbi HY</span><br />
|
||
<span class="medgenPMjournal">Genomics</span>
|
||
1996 Jun 1;34(2):166-72.
|
||
doi: 10.1006/geno.1996.0261.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8661044" target="_blank">8661044</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6613995">Duplication 9q34 syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Allderdice PW,
|
||
Eales B,
|
||
Onyett H,
|
||
Sprague W,
|
||
Henderson K,
|
||
Lefeuvre PA,
|
||
Pal G</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1983 Sep;35(5):1005-19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6613995" target="_blank">6613995</a><a href="/pmc/articles/PMC1685803" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microphthalmia%2C%20syndromic%2012%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 (39)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37493047">Cryptophthalmos: associated syndromes and genetic disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Landau-Prat D,
|
||
Kim DH,
|
||
Bautista S,
|
||
Strong A,
|
||
Revere KE,
|
||
Katowitz WR,
|
||
Katowitz JA</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2023 Dec;44(6):547-552.
|
||
Epub 2023 Jul 26
|
||
doi: 10.1080/13816810.2023.2237568.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37493047" target="_blank">37493047</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31015240">Microphthalmia with linear skin defects syndrome (MIDAS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Banganho D,
|
||
Oliveira I,
|
||
Machado C,
|
||
Póvoas M</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2019 Apr 23;12(4)
|
||
doi: 10.1136/bcr-2018-227791.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31015240" target="_blank">31015240</a><a href="/pmc/articles/PMC6510122" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28676282">Anterior-Segment Ocular Findings and Microphthalmia in Congenital Zika Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Paula Freitas B,
|
||
Zin A,
|
||
Ko A,
|
||
Maia M,
|
||
Ventura CV,
|
||
Belfort R Jr</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2017 Dec;124(12):1876-1878.
|
||
Epub 2017 Jul 1
|
||
doi: 10.1016/j.ophtha.2017.06.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28676282" target="_blank">28676282</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28112979">Ocular manifestations in the X-linked intellectual disability syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Couser NL,
|
||
Masood MM,
|
||
Aylsworth AS,
|
||
Stevenson RE</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2017 Sep-Oct;38(5):401-412.
|
||
Epub 2017 Jan 23
|
||
doi: 10.1080/13816810.2016.1247459.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28112979" target="_blank">28112979</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15645691">Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hershkovitz E,
|
||
Parvari R,
|
||
Diaz GA,
|
||
Gorodischer R</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2004 Dec;17(12):1583-90.
|
||
doi: 10.1515/jpem.2004.17.12.1583.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15645691" target="_blank">15645691</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microphthalmia%2C%20syndromic%2012%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 (73)</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/31697031">Sjogren-Larsson syndrome associated hypermelanosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu YC,
|
||
Hou JQ,
|
||
Zhu WJ,
|
||
Li P</span><br />
|
||
<span class="medgenPMjournal">J Cosmet Dermatol</span>
|
||
2020 Apr;19(4):789-798.
|
||
Epub 2019 Nov 7
|
||
doi: 10.1111/jocd.13209.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31697031" target="_blank">31697031</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31015240">Microphthalmia with linear skin defects syndrome (MIDAS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Banganho D,
|
||
Oliveira I,
|
||
Machado C,
|
||
Póvoas M</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2019 Apr 23;12(4)
|
||
doi: 10.1136/bcr-2018-227791.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31015240" target="_blank">31015240</a><a href="/pmc/articles/PMC6510122" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30877130">Extensive circumferential partial-thickness sclerectomy in eyes with extreme nanophthalmos and spontaneous uveal effusion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mansour A,
|
||
Stewart MW,
|
||
Shields CL,
|
||
Hamam R,
|
||
Abdul Fattah M,
|
||
Sheheitli H,
|
||
Mehanna CJ,
|
||
Yassine S,
|
||
Chahine H,
|
||
Keaik M,
|
||
Maalouf F,
|
||
Jaroudi M</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2019 Dec;103(12):1862-1867.
|
||
Epub 2019 Mar 15
|
||
doi: 10.1136/bjophthalmol-2018-313702.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30877130" target="_blank">30877130</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1200903">Nanophthalmos with uveal effusion. A new clinical entity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brockhurst RJ</span><br />
|
||
<span class="medgenPMjournal">Arch Ophthalmol</span>
|
||
1975 Dec;93(12):1989-99.
|
||
doi: 10.1001/archopht.1975.01010020923001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1200903" target="_blank">1200903</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microphthalmia%2C%20syndromic%2012%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 (13)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30877130">Extensive circumferential partial-thickness sclerectomy in eyes with extreme nanophthalmos and spontaneous uveal effusion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mansour A,
|
||
Stewart MW,
|
||
Shields CL,
|
||
Hamam R,
|
||
Abdul Fattah M,
|
||
Sheheitli H,
|
||
Mehanna CJ,
|
||
Yassine S,
|
||
Chahine H,
|
||
Keaik M,
|
||
Maalouf F,
|
||
Jaroudi M</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2019 Dec;103(12):1862-1867.
|
||
Epub 2019 Mar 15
|
||
doi: 10.1136/bjophthalmol-2018-313702.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30877130" target="_blank">30877130</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21959366">Ocular manifestations of trichothiodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brooks BP,
|
||
Thompson AH,
|
||
Clayton JA,
|
||
Chan CC,
|
||
Tamura D,
|
||
Zein WM,
|
||
Blain D,
|
||
Hadsall C,
|
||
Rowan J,
|
||
Bowles KE,
|
||
Khan SG,
|
||
Ueda T,
|
||
Boyle J,
|
||
Oh KS,
|
||
DiGiovanna JJ,
|
||
Kraemer KH</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2011 Dec;118(12):2335-42.
|
||
Epub 2011 Sep 28
|
||
doi: 10.1016/j.ophtha.2011.05.036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21959366" target="_blank">21959366</a><a href="/pmc/articles/PMC3230678" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9417914">Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schaefer L,
|
||
Prakash S,
|
||
Zoghbi HY</span><br />
|
||
<span class="medgenPMjournal">Genomics</span>
|
||
1997 Dec 1;46(2):268-77.
|
||
doi: 10.1006/geno.1997.5040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9417914" target="_blank">9417914</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6677860">Warburg syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levine RA,
|
||
Gray DL,
|
||
Gould N,
|
||
Pergament E,
|
||
Stillerman ML</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
1983 Dec;90(12):1600-3.
|
||
doi: 10.1016/s0161-6420(83)34345-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6677860" target="_blank">6677860</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6613995">Duplication 9q34 syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Allderdice PW,
|
||
Eales B,
|
||
Onyett H,
|
||
Sprague W,
|
||
Henderson K,
|
||
Lefeuvre PA,
|
||
Pal G</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1983 Sep;35(5):1005-19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6613995" target="_blank">6613995</a><a href="/pmc/articles/PMC1685803" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microphthalmia%2C%20syndromic%2012%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 (24)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33670341">Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Indrieri A,
|
||
Franco B</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Feb 11;12(2)
|
||
doi: 10.3390/genes12020263.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33670341" target="_blank">33670341</a><a href="/pmc/articles/PMC7918533" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32829301">Clinical spectrum of non-syndromic microphthalmos, anophthalmos and coloboma in the paediatric population: a multicentric study from North India.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tibrewal S,
|
||
Subhedar K,
|
||
Sen P,
|
||
Mohan A,
|
||
Singh S,
|
||
Shah C,
|
||
Nischal KK,
|
||
Ganesh S;
|
||
Bodhya Eye Consortium</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2021 Jul;105(7):897-903.
|
||
Epub 2020 Aug 22
|
||
doi: 10.1136/bjophthalmol-2020-316910.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32829301" target="_blank">32829301</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31580536">National population-based estimates for major birth defects, 2010-2014.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mai CT,
|
||
Isenburg JL,
|
||
Canfield MA,
|
||
Meyer RE,
|
||
Correa A,
|
||
Alverson CJ,
|
||
Lupo PJ,
|
||
Riehle-Colarusso T,
|
||
Cho SJ,
|
||
Aggarwal D,
|
||
Kirby RS;
|
||
National Birth Defects Prevention Network</span><br />
|
||
<span class="medgenPMjournal">Birth Defects Res</span>
|
||
2019 Nov 1;111(18):1420-1435.
|
||
Epub 2019 Oct 3
|
||
doi: 10.1002/bdr2.1589.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31580536" target="_blank">31580536</a><a href="/pmc/articles/PMC7203968" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9417914">Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schaefer L,
|
||
Prakash S,
|
||
Zoghbi HY</span><br />
|
||
<span class="medgenPMjournal">Genomics</span>
|
||
1997 Dec 1;46(2):268-77.
|
||
doi: 10.1006/geno.1997.5040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9417914" target="_blank">9417914</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8661044">Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schaefer L,
|
||
Ballabio A,
|
||
Zoghbi HY</span><br />
|
||
<span class="medgenPMjournal">Genomics</span>
|
||
1996 Jun 1;34(2):166-72.
|
||
doi: 10.1006/geno.1996.0261.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8661044" target="_blank">8661044</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microphthalmia%2C%20syndromic%2012%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 (37)</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/30591235">Neurological Complications of Congenital Zika Virus Infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marques VM,
|
||
Santos CS,
|
||
Santiago IG,
|
||
Marques SM,
|
||
Nunes Brasil MDG,
|
||
Lima TT,
|
||
Costa PS</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2019 Feb;91:3-10.
|
||
Epub 2018 Nov 22
|
||
doi: 10.1016/j.pediatrneurol.2018.11.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30591235" target="_blank">30591235</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microphthalmia%2C%20syndromic%2012%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>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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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=C3809803%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C3809803%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (12)</a></li>
|
||
<li><a href="/gtr/tests?term=C3809803%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3809803%5bDISCUI%5d" target="_blank">See all (13)</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=(microphthalmia%2C%20syndromic%2012)%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></ul></div>
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