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<!--
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||
UID=98074
|
||
ConceptID=C0423848
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Distichiasis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98074</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.">C0423848</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>EYELASHES, TWO ROWS OF</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Distichiasis (95339000); Reduplication of lashes (95339000)</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:0009743">HP:0009743</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/126300" target="_blank">126300</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=99177">ORPHA99177</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">Double rows of eyelashes. [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_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_98074"><div><strong>Distichiasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98074</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.">C0423848</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Double rows of eyelashes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98074">Feature record</a> | <a href="/medgen?term=%22Distichiasis%22%5BClinical%20Features%5D%20OR%2098074%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98074" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distichiasis</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98074" target="_blank" href="/omim/126300">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Distichiasis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871273" ref="tree=MeSH" title="MedGen record for Abnormality of the integument">Abnormality of the integument</a></span><ul><li><span class="TLline"><a href="/medgen/869100" ref="tree=MeSH" title="MedGen record for Abnormal skin adnexa morphology">Abnormal skin adnexa morphology</a></span><ul><li><span class="TLline"><a href="/medgen/56381" ref="tree=MeSH" title="MedGen record for Abnormal hair morphology">Abnormal hair morphology</a></span><ul><li><span class="TLline"><a href="/medgen/382526" ref="tree=MeSH" title="MedGen record for Abnormal eyelash morphology">Abnormal eyelash morphology</a></span><ul><li><span class="TLline"><a href="/medgen/763250" ref="tree=MeSH" title="MedGen record for Multiple rows of eyelashes">Multiple rows of eyelashes</a></span><ul><li><span class="matched_ds">Distichiasis</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_75566"><div><strong>Distichiasis-lymphedema syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75566</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:">C0265345</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lymphedema-distichiasis syndrome (referred to as LDS in this GeneReview) is characterized by lower-limb lymphedema, and distichiasis (aberrant eyelashes ranging from a full set of extra eyelashes to a single hair). Lymphedema typically appears in late childhood or puberty, is confined to the lower limbs with or without involvement of the external genitalia, and is often asymmetric; severity varies within families. Males develop edema at an earlier age and have more problems with cellulitis than females. Distichiasis, which may be present at birth, is observed in 94% of affected individuals. About 75% of affected individuals have ocular findings including corneal irritation, recurrent conjunctivitis, and photophobia; other common findings include varicose veins and ptosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75566">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98074"><div><strong>Distichiasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98074</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.">C0423848</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Double rows of eyelashes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98074">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_315643"><div><strong>Focal facial dermal dysplasia type III</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>315643</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.">C1744559</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin (summary by Slavotinek et al., 2013). FFDD2 (614973) is characterized by the same facial features as FFDD3, but the inheritance is autosomal dominant. For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (136500).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/315643">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338862"><div><strong>Distichiasis with congenital anomalies of the heart and peripheral vasculature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338862</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.">C1852062</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338862">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_909661"><div><strong>Orofacial cleft 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>909661</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.">C4225209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/909661">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1623594"><div><strong>Blepharocheilodontic syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1623594</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.">C4540127</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Blepharocheilodontic (BCD) syndrome is a disorder that is present at birth. It mainly affects the eyelids (blepharo-), upper lip (-cheilo-), and teeth (-dontic).\n\nOccasionally people with BCD syndrome have additional features, including an obstruction of the anal opening (imperforate anus); malformation or absence of the butterfly-shaped gland in the lower neck called the thyroid, resulting in lack of thyroid gland function; or fused fingers or toes (syndactyly). Very rarely, affected individuals have incompletely formed arms or legs (limb reduction defects) or a spinal cord abnormality known as spina bifida.\n\nPeople with BCD syndrome have lower eyelids that turn out so that the inner surface is exposed (ectropion). The outside of the lower lid may sag away from the eye (euryblepharon), and the eyelids may not be able to close completely (lagophthalmia). There can be extra eyelashes (distichiasis) on the upper eyelids, ranging from a few extra eyelashes to a full extra set. These eyelashes do not grow along the edge of the eyelid with the normal lashes, but out of its inner lining. When the abnormal eyelashes touch the eyeball, they can cause damage to the clear covering of the eye (cornea). Affected individuals may also have widely spaced eyes (hypertelorism), a flat face, and a high forehead.\n\nOther features of BCD syndrome usually include openings on both sides of the upper lip (bilateral cleft lip) and an opening in the roof of the mouth (cleft palate). Affected individuals may have fewer teeth than normal (oligodontia) and their teeth are often smaller than usual and cone-shaped. The dental abnormalities affect both primary teeth (sometimes called "baby teeth") and secondary (permanent) teeth. Other frequent features include sparse, fine hair and abnormal nails.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1623594">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1634824"><div><strong>Myopathy, lactic acidosis, and sideroblastic anemia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1634824</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.">C4551958</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myopathy, lactic acidosis, and sideroblastic anemia (MLASA) is a rare autosomal recessive oxidative phosphorylation disorder specific to skeletal muscle and bone marrow (Bykhovskaya et al., 2004). Genetic Heterogeneity of Myopathy, Lactic Acidosis, and Sideroblastic Anemia MLASA2 (613561) is caused by mutation in the YARS2 gene (610957) on chromosome 12p11. MLASA3 (500011) is caused by heteroplasmic mutation in the mitochondrially-encoded MTATP6 gene (516060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1634824">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1632198"><div><strong>Blepharocheilodontic syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632198</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.">C4551988</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The blepharocheilodontic syndrome is a rare autosomal dominant disorder characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. An additional rare manifestation is imperforate anus (summary by Weaver et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1632198">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1718224"><div><strong>Focal facial dermal dysplasia type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1718224</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.">C5235196</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. Cervantes-Barragan et al. (2011) proposed a classification of FFDD in which there are 4 subtypes. FFDD1 (Brauer syndrome) is characterized by temporal skin depressions that resemble 'forceps marks.' Other facial anomalies, comprising sparse lateral eyebrows, distichiasis, and a flattened nasal tip, are usually mild. Inheritance is autosomal dominant. FFFD2 (Brauer-Setleis syndrome; 614973) is characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin. Inheritance is autosomal dominant. FFDD3 (Setleis syndrome; 227260) is characterized by the same facial features as FFDD2, but the inheritance is autosomal recessive. FFDD4 (614974) is characterized by isolated, preauricular skin lesions with autosomal dominant or recessive inheritance (summary by Slavotinek et al., 2013). Genetic Heterogeneity of Focal Facial Dermal Dysplasia FFDD3 (227260) is caused by mutation in the TWIST2 gene (607556) on chromosome 2q37. FFDD4 (614974) is caused by mutation in the CYP26C1 gene on chromosome 10q23.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1718224">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1863661"><div><strong>Neuroocular syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1863661</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.">C5925133</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neuroocular syndrome-1 (NOC1) encompasses a broad spectrum of overlapping anomalies, with developmental delay or impaired intellectual development as a consistent finding. Eye abnormalities show marked variability in the type and severity of defects, and include anophthalmia, microphthalmia, and coloboma. Other common systemic features include congenital heart and kidney defects, hypotonia, failure to thrive, and microcephaly (summary by Chowdhury et al., 2021). Genetic Heterogeneity of Neuroocular Syndrome See also NOC2 (168885), caused by mutation in the DAGLA gene (614015) on chromosome 11q12.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1863661">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1632198" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blepharocheilodontic syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1623594" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blepharocheilodontic syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98074" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distichiasis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338862" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distichiasis with congenital anomalies of the heart and peripheral vasculature</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75566" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distichiasis-lymphedema syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (10)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1718224" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal facial dermal dysplasia type I</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_315643" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal facial dermal dysplasia type III</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1634824" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, lactic acidosis, and sideroblastic anemia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1863661" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuroocular syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_909661" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofacial cleft 15</a></div></span></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/37797242">Causes of Trichiasis and Distichiasis and Their Management with Carbon Dioxide Laser Ablation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang LA,
|
||
Lai CC</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
2024 Oct 1;154(4):781e-794e.
|
||
Epub 2023 Oct 3
|
||
doi: 10.1097/PRS.0000000000011107.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37797242" target="_blank">37797242</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16985417">Treatment of trichiasis and distichiasis by eyelash trephination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McCracken MS,
|
||
Kikkawa DO,
|
||
Vasani SN</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
|
||
2006 Sep-Oct;22(5):349-51.
|
||
doi: 10.1097/01.iop.0000229872.81219.9e.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16985417" target="_blank">16985417</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1554654">Argon laser treatment for trichiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huneke JW</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
|
||
1992;8(1):50-5.
|
||
doi: 10.1097/00002341-199203000-00009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1554654" target="_blank">1554654</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22distichiasis%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 (3)</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/38309663">Ophtalmologic diagnosis of lymphedema-distichiasis syndrome through the FOXC2 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Calleja Casado F,
|
||
Ortega Prades G,
|
||
Lanuza García A,
|
||
Duch Samper A</span><br />
|
||
<span class="medgenPMjournal">Arch Soc Esp Oftalmol (Engl Ed)</span>
|
||
2024 Apr;99(4):177-180.
|
||
Epub 2024 Feb 1
|
||
doi: 10.1016/j.oftale.2024.01.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38309663" target="_blank">38309663</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37797242">Causes of Trichiasis and Distichiasis and Their Management with Carbon Dioxide Laser Ablation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang LA,
|
||
Lai CC</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
2024 Oct 1;154(4):781e-794e.
|
||
Epub 2023 Oct 3
|
||
doi: 10.1097/PRS.0000000000011107.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37797242" target="_blank">37797242</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31994743">The utility of exome sequencing for fetal pleural effusions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jelin AC,
|
||
Sobreira N,
|
||
Wohler E,
|
||
Solomon B,
|
||
Sparks T,
|
||
Sagaser KG,
|
||
Forster KR,
|
||
Miller J,
|
||
Witmer PD,
|
||
Hamosh A,
|
||
Valle D,
|
||
Blakemore K</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2020 Apr;40(5):590-595.
|
||
Epub 2020 Feb 17
|
||
doi: 10.1002/pd.5650.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31994743" target="_blank">31994743</a><a href="/pmc/articles/PMC7383284" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15906099">Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sholto-Douglas-Vernon C,
|
||
Bell R,
|
||
Brice G,
|
||
Mansour S,
|
||
Sarfarazi M,
|
||
Child AH,
|
||
Smith A,
|
||
Mellor R,
|
||
Burnand K,
|
||
Mortimer P,
|
||
Jeffery S</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2005 Jul;117(2-3):238-42.
|
||
Epub 2005 May 20
|
||
doi: 10.1007/s00439-005-1275-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15906099" target="_blank">15906099</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8305373">Treatment of localized trichiasis with radiosurgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kezirian GM</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
|
||
1993 Dec;9(4):260-6.
|
||
doi: 10.1097/00002341-199312000-00006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8305373" target="_blank">8305373</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Distichiasis%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (32)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37931963">Lipoid proteinosis; a rare pathology, requiring multidisciplinary input.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fenech MT,
|
||
Yeo D</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2023 Nov 6;16(11)
|
||
doi: 10.1136/bcr-2023-257108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37931963" target="_blank">37931963</a><a href="/pmc/articles/PMC10632804" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34288765">Refractive Amblyopia Secondary to Astigmatism in Pediatric Patients With Distichiasis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ackerman IM,
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Kodsi SR</span><br />
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Epub 2021 Jul 1
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<span class="bold">PMID: </span><a href="/pubmed/34288765" target="_blank">34288765</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26759405">Lymphoedema-distichiasis syndrome.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Marques NS,
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Miranda A,
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Barros S,
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Parreira S</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/26124227">Lymphedema-distichiasis syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">McDermott S,
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<span class="medgenPMjournal">CMAJ</span>
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2016 Feb 2;188(2):E44.
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Epub 2015 Jun 29
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<span class="bold">PMID: </span><a href="/pubmed/26124227" target="_blank">26124227</a><a href="/pmc/articles/PMC4732980" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/22753792">Index of suspicion.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Stewart E,
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Piteau S,
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Storr M,
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Mackenzie J,
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Hartsell A,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Distichiasis%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 (51)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37797242">Causes of Trichiasis and Distichiasis and Their Management with Carbon Dioxide Laser Ablation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wang LA,
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Lai CC</span><br />
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<span class="medgenPMjournal">Plast Reconstr Surg</span>
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2024 Oct 1;154(4):781e-794e.
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doi: 10.1097/PRS.0000000000011107.
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<span class="bold">PMID: </span><a href="/pubmed/37797242" target="_blank">37797242</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33905746">Comparison of the Effect of Tea Tree Oil Shampoo With Regular Eyelid Shampoo in Meibomian Gland Dysfunction Treatment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zarei-Ghanavati S,
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Nooghabi MJ,
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Zamani G</span><br />
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<span class="medgenPMjournal">Am J Ophthalmol</span>
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2021 Sep;229:45-51.
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<div class="nl"><a target="_blank" href="/pubmed/8305373">Treatment of localized trichiasis with radiosurgery.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kezirian GM</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/3940101">The use of tarsus as a free autogenous graft in eyelid surgery.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Stephenson CM,
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<div class="nl"><a target="_blank" href="/pubmed/662482">Hereditary late-onset lymphedema.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Holmes LB,
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<div class="nl"><a target="_blank" href="/pubmed/38309663">Ophtalmologic diagnosis of lymphedema-distichiasis syndrome through the FOXC2 mutation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Calleja Casado F,
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Ortega Prades G,
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Lanuza García A,
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Duch Samper A</span><br />
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<span class="medgenPMjournal">Arch Soc Esp Oftalmol (Engl Ed)</span>
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doi: 10.1016/j.oftale.2024.01.012.
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<span class="bold">PMID: </span><a href="/pubmed/38309663" target="_blank">38309663</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35325995">Distichiasis: An update on etiology, treatment and outcomes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Singh S</span><br />
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|
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<div class="nl"><a target="_blank" href="/pubmed/22753792">Index of suspicion.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Stewart E,
|
||
Piteau S,
|
||
Storr M,
|
||
Mackenzie J,
|
||
Hartsell A,
|
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Nagappan S</span><br />
|
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<span class="medgenPMjournal">Pediatr Rev</span>
|
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2012 Jul;33(7):327-31.
|
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doi: 10.1542/pir.33-7-327.
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<span class="bold">PMID: </span><a href="/pubmed/22753792" target="_blank">22753792</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11371511">Truncating mutations in FOXC2 cause multiple lymphedema syndromes.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Finegold DN,
|
||
Kimak MA,
|
||
Lawrence EC,
|
||
Levinson KL,
|
||
Cherniske EM,
|
||
Pober BR,
|
||
Dunlap JW,
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||
Ferrell RE</span><br />
|
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<span class="medgenPMjournal">Hum Mol Genet</span>
|
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2001 May 15;10(11):1185-9.
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doi: 10.1093/hmg/10.11.1185.
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<span class="bold">PMID: </span><a href="/pubmed/11371511" target="_blank">11371511</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1554654">Argon laser treatment for trichiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huneke JW</span><br />
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<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
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1992;8(1):50-5.
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doi: 10.1097/00002341-199203000-00009.
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<span class="bold">PMID: </span><a href="/pubmed/1554654" target="_blank">1554654</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Distichiasis%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (22)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37797242">Causes of Trichiasis and Distichiasis and Their Management with Carbon Dioxide Laser Ablation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang LA,
|
||
Lai CC</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
2024 Oct 1;154(4):781e-794e.
|
||
Epub 2023 Oct 3
|
||
doi: 10.1097/PRS.0000000000011107.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37797242" target="_blank">37797242</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33925370">Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Missaglia S,
|
||
Tavian D,
|
||
Michelini S,
|
||
Maltese PE,
|
||
Bonanomi A,
|
||
Bertelli M</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Apr 27;12(5)
|
||
doi: 10.3390/genes12050650.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33925370" target="_blank">33925370</a><a href="/pmc/articles/PMC8146868" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12543715">Research perspectives in inherited lymphatic disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferrell RE</span><br />
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<span class="medgenPMjournal">Ann N Y Acad Sci</span>
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2002 Dec;979:39-51; discussion 76-9.
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||
doi: 10.1111/j.1749-6632.2002.tb04866.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12543715" target="_blank">12543715</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11371511">Truncating mutations in FOXC2 cause multiple lymphedema syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finegold DN,
|
||
Kimak MA,
|
||
Lawrence EC,
|
||
Levinson KL,
|
||
Cherniske EM,
|
||
Pober BR,
|
||
Dunlap JW,
|
||
Ferrell RE</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2001 May 15;10(11):1185-9.
|
||
doi: 10.1093/hmg/10.11.1185.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11371511" target="_blank">11371511</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/924438">Lymphedema--distichiasis. A rare hereditary syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jester HG</span><br />
|
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<span class="medgenPMjournal">Hum Genet</span>
|
||
1977 Nov 2;39(1):113-6.
|
||
doi: 10.1007/BF00273160.
|
||
<span class="bold">PMID: </span><a href="/pubmed/924438" target="_blank">924438</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Distichiasis%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 (30)</a></div></div>
|
||
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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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