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<!--
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UID=350283
|
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ConceptID=C1863872
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Upper eyelid coloboma</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350283</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.">C1863872</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Upper eyelid colobomas</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Coloboma of superior eyelid (763132003); Coloboma of upper eyelid (763132003); Superior palpebral coloboma (763132003)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000636">HP:0000636</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0015480" target="_blank">MONDO:0015480</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=155884">ORPHA155884</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">A short discontinuity of the margin of the upper eyelid. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Upper eyelid coloboma</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/871367" ref="tree=MeSH" title="MedGen record for Abnormality of the orbital region">Abnormality of the orbital region</a></span><ul><li><span class="TLline"><a href="/medgen/1670962" ref="tree=MeSH" title="MedGen record for Abnormality of the ocular adnexa">Abnormality of the ocular adnexa</a></span><ul><li><span class="TLline"><a href="/medgen/893067" ref="tree=MeSH" title="MedGen record for Abnormal ocular adnexa morphology">Abnormal ocular adnexa morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867429" ref="tree=MeSH" title="MedGen record for Abnormal eyelid morphology">Abnormal eyelid morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869035" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the eyelid">Aplasia/Hypoplasia of the eyelid</a></span><ul><li><span class="TLline"><a href="/medgen/141737" ref="tree=MeSH" title="MedGen record for Eyelid coloboma">Eyelid coloboma</a></span><ul><li><span class="matched_ds">Upper eyelid coloboma</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
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<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_66078"><div><strong>Treacher Collins syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66078</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.">C0242387</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Treacher Collins syndrome (TCS) is characterized by lower eyelid abnormalities, malar hypoplasia, downslanted palpebral fissures, and micro- or retrognathia due to symmetric hypoplasia of the zygomatic bones, maxilla, and mandible. External ear anomalies include absent, small, malformed, and/or posteriorly rotated ears and atresia or stenosis of the external auditory canals. About 40%-50% of individuals have conductive hearing loss attributed most commonly to malformation of the ossicles and hypoplasia of the middle ear cavities. Inner ear structures tend to be normal. Significant respiratory and feeding difficulties can be present in infancy. Other, less common abnormalities include cleft palate and unilateral or bilateral choanal stenosis or atresia. Typically, intellect is normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66078">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_358378"><div><strong>Nasopalpebral lipoma-coloboma syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358378</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.">C1868660</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nasopalpebral lipoma-coloboma syndrome (NPLCS) is an autosomal dominant condition characterized by upper eyelid and nasopalpebral lipomas, colobomas of upper and lower eyelids, telecanthus, and maxillary hypoplasia (summary by Suresh et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/358378">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462056"><div><strong>Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462056</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.">C3150706</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Life expectancy of affected individuals depends on the severity of the malformations and whether or not surgical intervention can improve associated health problems, such as breathing and feeding problems caused by the facial clefts.\n\nFrontonasal dysplasia is a condition that results from abnormal development of the head and face before birth. People with frontonasal dysplasia have at least two of the following features: widely spaced eyes (ocular hypertelorism); a broad nose; a slit (cleft) in one or both sides of the nose; no nasal tip; a central cleft involving the nose, upper lip, or roof of the mouth (palate); incomplete formation of the front of the skull with skin covering the head where bone should be (anterior cranium bifidum occultum); or a widow's peak hairline.\n\nOther features of frontonasal dysplasia can include additional facial malformations, absence or malformation of the tissue that connects the left and right halves of the brain (the corpus callosum), and intellectual disability.\n\nThere are at least three types of frontonasal dysplasia that are distinguished by their genetic causes and their signs and symptoms. In addition to the features previously described, each type of frontonasal dysplasia is associated with other distinctive features. Individuals with frontonasal dysplasia type 1 typically have abnormalities of the nose, a long area between the nose and upper lip (philtrum), and droopy upper eyelids (ptosis). Individuals with frontonasal dysplasia type 2 can have hair loss (alopecia) and an enlarged opening in the two bones that make up much of the top and sides of the skull (enlarged parietal foramina). Males with this form of the condition often have genital abnormalities. Features of frontonasal dysplasia type 3 include eyes that are missing (anophthalmia) or very small (microphthalmia) and low-set ears that are rotated backward. Frontonasal dysplasia type 3 is typically associated with the most severe facial abnormalities, but the severity of the condition varies widely, even among individuals with the same type.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462056">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_501171"><div><strong>Craniofacial microsomia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501171</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.">C3495417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures. Most people with craniofacial microsomia have differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry). In about two-thirds of cases, both sides of the face have abnormalities, which usually differ from one side to the other. Other individuals with craniofacial microsomia are affected on only one side of the face. The facial characteristics in craniofacial microsomia typically include underdevelopment of one side of the upper or lower jaw (maxillary or mandibular hypoplasia), which can cause dental problems and difficulties with feeding and speech. In cases of severe mandibular hypoplasia, breathing may also be affected.\n\nPeople with craniofacial microsomia usually have ear abnormalities affecting one or both ears, typically to different degrees. They may have growths of skin (skin tags) in front of the ear (preauricular tags), an underdeveloped or absent external ear (microtia or anotia), or a closed or absent ear canal; these abnormalities may lead to hearing loss. Eye problems are less common in craniofacial microsomia, but some affected individuals have an unusually small eyeball (microphthalmia) or other eye abnormalities that result in vision loss.\n\nAbnormalities in other parts of the body, such as malformed bones of the spine (vertebrae), abnormally shaped kidneys, and heart defects, may also occur in people with craniofacial microsomia.\n\nMany other terms have been used for craniofacial microsomia. These other names generally refer to forms of craniofacial microsomia with specific combinations of signs and symptoms, although sometimes they are used interchangeably. Hemifacial microsomia often refers to craniofacial microsomia with maxillary or mandibular hypoplasia. People with hemifacial microsomia and noncancerous (benign) growths in the eye called epibulbar dermoids may be said to have Goldenhar syndrome or oculoauricular dysplasia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/501171">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_903483"><div><strong>Acrofacial dysostosis Cincinnati type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>903483</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.">C4225317</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015). In addition, a significant number of neurologic abnormalities have been reported, ranging from mild delays to refractory epilepsy, as well as an increased incidence of congenital heart defects, primarily septal in nature (Smallwood et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/903483">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1625659"><div><strong>Sweeney-Cox syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1625659</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.">C4540299</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sweeney-Cox syndrome (SWCOS) is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1625659">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1639061"><div><strong>Fraser syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1639061</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.">C4551480</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser Syndrome Fraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (608945) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3; 617667) is caused by mutation in the GRIP1 gene (604597) on chromosome 12q14. See Bowen syndrome (211200) for a comparable but probably distinct syndrome of multiple congenital malformations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1639061">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1809276"><div><strong>Teebi hypertelorism syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1809276</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.">C5676911</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Teebi hypertelorism syndrome-2 (TBHS2) is characterized primarily by hypertelorism, prominent forehead, thick and broad eyebrows, and short nose with depressed nasal root and broad nasal tip. Other features include thin upper lip, small chin with horizontal crease, and high or cleft palate. Developmental delay and/or impaired intellectual development have been observed in some patients (Li et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of Teebi hypertelorism syndrome, see TBHS1 (145420).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1809276">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_903483" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrofacial dysostosis Cincinnati type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501171" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniofacial microsomia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1639061" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fraser syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462056" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_358378" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nasopalpebral lipoma-coloboma syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1625659" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sweeney-Cox syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1809276" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Teebi hypertelorism syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_66078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Treacher Collins syndrome</a></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/34570047">Scleral Contact Lens as Initial Management in a Neonate With a Large Upper Eyelid Coloboma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mortensen ZQ,
|
||
Simmons BA,
|
||
Shriver EM,
|
||
Carter KD,
|
||
Downes SJ</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
|
||
2022 Jan-Feb 01;38(1):e10-e13.
|
||
doi: 10.1097/IOP.0000000000002057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34570047" target="_blank">34570047</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25419956">Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tawfik HA,
|
||
Abdulhafez MH,
|
||
Fouad YA</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
|
||
2015 Jan-Feb;31(1):1-12.
|
||
doi: 10.1097/IOP.0000000000000347.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25419956" target="_blank">25419956</a><a href="/pmc/articles/PMC4334304" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22upper%20eyelid%20coloboma%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</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/31760545">Ophthalmic features and management outcomes of 30 children having Goldenhar syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh M,
|
||
Kaur M,
|
||
Grewal AM,
|
||
Yangzes S,
|
||
Yadav D,
|
||
Zadeng Z,
|
||
Gupta P</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol</span>
|
||
2020 Mar;40(3):667-675.
|
||
Epub 2019 Nov 23
|
||
doi: 10.1007/s10792-019-01227-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31760545" target="_blank">31760545</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31722593">Clinical and histological features and outcomes of upper eyelid colobomas in the Saudi population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al Essa D,
|
||
Khandekar R,
|
||
Galindo-Ferreiro A,
|
||
Edward DP,
|
||
Maktabi A,
|
||
Al Hussein H,
|
||
Al Sheikh O,
|
||
Strianese D,
|
||
Schellini SA</span><br />
|
||
<span class="medgenPMjournal">Orbit</span>
|
||
2020 Oct;39(5):325-330.
|
||
Epub 2019 Nov 13
|
||
doi: 10.1080/01676830.2019.1690006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31722593" target="_blank">31722593</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25514664">Upper Eyelid Coloboma Repair Using Accessory Preauricular Cartilage in a Patient With Goldenhar Syndrome: Technique Revisited.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sinkin JC,
|
||
Yi S,
|
||
Wood BC,
|
||
Kwon S,
|
||
Gavaris LZ,
|
||
Gavaris PT,
|
||
Rogers GF,
|
||
Sauerhammer TM</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
|
||
2017 Jan/Feb;33(1):e4-e7.
|
||
doi: 10.1097/IOP.0000000000000360.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25514664" target="_blank">25514664</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21747265">Two-stage reconstruction for eyelid deformities in partial cryptophthalmos.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lessa S,
|
||
Nanci M,
|
||
Sebastiá R,
|
||
Flores E</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
|
||
2011 Jul-Aug;27(4):282-6.
|
||
doi: 10.1097/IOP.0b013e318201d627.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21747265" target="_blank">21747265</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19496496">Congenital eyelid colobomas in 51 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grover AK,
|
||
Chaudhuri Z,
|
||
Malik S,
|
||
Bageja S,
|
||
Menon V</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
2009 May-Jun;46(3):151-9.
|
||
doi: 10.3928/01913913-20090505-06.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19496496" target="_blank">19496496</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Upper%20eyelid%20coloboma%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 (6)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34570047">Scleral Contact Lens as Initial Management in a Neonate With a Large Upper Eyelid Coloboma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mortensen ZQ,
|
||
Simmons BA,
|
||
Shriver EM,
|
||
Carter KD,
|
||
Downes SJ</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
|
||
2022 Jan-Feb 01;38(1):e10-e13.
|
||
doi: 10.1097/IOP.0000000000002057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34570047" target="_blank">34570047</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29162995">A 5-day-old-newborn with a large right upper eyelid coloboma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang DV,
|
||
Chundury RV,
|
||
Blandford AD,
|
||
Perry JD</span><br />
|
||
<span class="medgenPMjournal">Digit J Ophthalmol</span>
|
||
2017;23(3):88-91.
|
||
Epub 2017 Sep 28
|
||
doi: 10.5693/djo.03.2017.08.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29162995" target="_blank">29162995</a><a href="/pmc/articles/PMC5683440" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25419956">Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tawfik HA,
|
||
Abdulhafez MH,
|
||
Fouad YA</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
|
||
2015 Jan-Feb;31(1):1-12.
|
||
doi: 10.1097/IOP.0000000000000347.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25419956" target="_blank">25419956</a><a href="/pmc/articles/PMC4334304" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24000518">Congenital left upper eyelid coloboma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baruah P,
|
||
Choudhury PR,
|
||
Talukdar K</span><br />
|
||
<span class="medgenPMjournal">J Indian Med Assoc</span>
|
||
2013 Jan;111(1):69.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24000518" target="_blank">24000518</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/626178">Goldenhar's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feingold M,
|
||
Baum J</span><br />
|
||
<span class="medgenPMjournal">Am J Dis Child</span>
|
||
1978 Feb;132(2):136-8.
|
||
doi: 10.1001/archpedi.1978.02120270034006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/626178" target="_blank">626178</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Upper%20eyelid%20coloboma%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 (14)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/11297501">Rhabdomyomatous mesenchymal hamartoma of the eyelid: report of a case and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Read RW,
|
||
Burnstine M,
|
||
Rowland JM,
|
||
Zamir E,
|
||
Rao NA</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2001 Apr;108(4):798-804.
|
||
doi: 10.1016/s0161-6420(00)00638-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11297501" target="_blank">11297501</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Upper%20eyelid%20coloboma%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 (1)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/19783022">Epicorneal polypoidal lipodermoid: lack of association of central corneal lesions with goldenhar syndrome verified with a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jakobiec FA,
|
||
Pineda R,
|
||
Rivera R,
|
||
Hsu-Winges C,
|
||
Cherwek D</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
2010 Jan-Feb;55(1):78-84.
|
||
doi: 10.1016/j.survophthal.2009.05.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19783022" target="_blank">19783022</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19496496">Congenital eyelid colobomas in 51 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grover AK,
|
||
Chaudhuri Z,
|
||
Malik S,
|
||
Bageja S,
|
||
Menon V</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
2009 May-Jun;46(3):151-9.
|
||
doi: 10.3928/01913913-20090505-06.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19496496" target="_blank">19496496</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12352825">Congenital upper eyelid coloboma and cryptophthalmos.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nouby G</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
|
||
2002 Sep;18(5):373-7.
|
||
doi: 10.1097/00002341-200209000-00010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12352825" target="_blank">12352825</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Upper%20eyelid%20coloboma%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 (3)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=155884" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Upper%20eyelid%20coloboma" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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