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<meta name="keywords" content="C5562041, disease or syndrome, lds6, loeys-dietz syndrome 6, smad2, 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="Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instability), craniofacial features (hypertelorism, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1794251
|
||
ConceptID=C5562041
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Loeys-Dietz syndrome 6<span class="h1sub">(LDS6)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794251</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:">C5562041</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>LDS6; LOEYS-DIETZ SYNDROME 6</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="SMAD2 - ID: 4087 - NCBI Gene" href="/gene/4087" class="medgenPMinfo">SMAD2</a> (18q21.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0030500" target="_blank">MONDO:0030500</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619656" target="_blank">619656</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1133" target="_blank">Loeys-Dietz Syndrome</a></div><div>Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instability), craniofacial features (hypertelorism, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1133#loeys-dietz.Summary" target="NBK1133">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1133#loeys-dietz.Diagnosis" target="NBK1133">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1133#loeys-dietz.Clinical_Characteristics" target="NBK1133">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1133#loeys-dietz.Differential_Diagnosis" target="NBK1133">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1133#loeys-dietz.Management" target="NBK1133">Management</a> | <a class="medgenPMinfo" href="/books/NBK1133#loeys-dietz.Genetic_Counseling" target="NBK1133">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1133#loeys-dietz.Resources" target="NBK1133">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1133#loeys-dietz.Molecular_Genetics" target="NBK1133">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1133#loeys-dietz.Chapter_Notes" target="NBK1133">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1133#loeys-dietz.References" target="NBK1133">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Bart L Loeys | Harry C Dietz <a href="/books/NBK1133" target="NBK1133" title="NCBI Bookshelf: Loeys-Dietz Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Loeys-Dietz syndrome-6 (LDS6) is characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings. Most patients have thoracic aortic aneurysm involving the ascending aorta and/or aortic root, but cerebral and iliac arteries can be affected, and abdominal aortic aneurysm has been observed. Arterial tortuosity involving cerebral vessels, the aorta, and/or iliac arteries has also been reported (Granadillo et al., 2018; Cannaerts et al., 2019).
|
||
For a general phenotypic description and discussion of genetic heterogeneity of LDS, see LDS1 (609192). <a target="_blank" href="http://www.omim.org/entry/619656">http://www.omim.org/entry/619656</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_13917"><div><strong>Arthralgia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13917</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.">C0003862</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Joint pain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/13917">Feature record</a> | <a href="/medgen?term=%22Arthralgia%22%5BClinical%20Features%5D%20OR%2013917%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_760077"><div><strong>Chronic fatigue</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>760077</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.">C0518656</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/760077">Feature record</a> | <a href="/medgen?term=%22Chronic%20fatigue%22%5BClinical%20Features%5D%20OR%20760077%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2047"><div><strong>Arachnodactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2047</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.">C0003706</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally long and slender fingers (spider fingers).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2047">Feature record</a> | <a href="/medgen?term=%22Arachnodactyly%22%5BClinical%20Features%5D%20OR%202047%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42034"><div><strong>Pes planus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42034</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.">C0016202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42034">Feature record</a> | <a href="/medgen?term=%22Pes%20planus%22%5BClinical%20Features%5D%20OR%2042034%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98371"><div><strong>Osteoarthritis, knee</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98371</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.">C0409959</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98371">Feature record</a> | <a href="/medgen?term=%22Osteoarthritis%2C%20knee%22%5BClinical%20Features%5D%20OR%2098371%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_853"><div><strong>Transient ischemic attack</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>853</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.">C0007787</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/853">Feature record</a> | <a href="/medgen?term=%22Transient%20ischemic%20attack%22%5BClinical%20Features%5D%20OR%20853%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21827"><div><strong>Varicose disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21827</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.">C0042345</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Enlarged and tortuous veins.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21827">Feature record</a> | <a href="/medgen?term=%22Varicose%20disease%22%5BClinical%20Features%5D%20OR%2021827%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57436"><div><strong>Bicuspid aortic valve</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57436</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.">C0149630</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta (Tan et al., 2012; Luyckx et al., 2019; Park et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57436">Feature record</a> | <a href="/medgen?term=%22Bicuspid%20aortic%20valve%22%5BClinical%20Features%5D%20OR%2057436%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56524"><div><strong>Abdominal aortic aneurysm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56524</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.">C0162871</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal localized widening (dilatation) of the abdominal aorta.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56524">Feature record</a> | <a href="/medgen?term=%22Abdominal%20aortic%20aneurysm%22%5BClinical%20Features%5D%20OR%2056524%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56525"><div><strong>Thoracic aortic aneurysm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56525</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.">C0162872</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal localized widening (dilatation) of the thoracic aorta.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56525">Feature record</a> | <a href="/medgen?term=%22Thoracic%20aortic%20aneurysm%22%5BClinical%20Features%5D%20OR%2056525%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488844"><div><strong>Carotid artery dissection</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488844</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.">C0338585</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A separation (dissection) of the layers of the carotid artery wall.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488844">Feature record</a> | <a href="/medgen?term=%22Carotid%20artery%20dissection%22%5BClinical%20Features%5D%20OR%20488844%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87400"><div><strong>Ventricular hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87400</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.">C0340279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87400">Feature record</a> | <a href="/medgen?term=%22Ventricular%20hypertrophy%22%5BClinical%20Features%5D%20OR%2087400%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_657756"><div><strong>Vertebral artery aneurysm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>657756</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.">C0574027</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal outpouching or sac-like dilatation in the wall of the vertebral artery .</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/657756">Feature record</a> | <a href="/medgen?term=%22Vertebral%20artery%20aneurysm%22%5BClinical%20Features%5D%20OR%20657756%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_724577"><div><strong>Carotid artery tortuosity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>724577</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.">C1303076</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal tortuous (i.e., twisted) form of the carotid arteries.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/724577">Feature record</a> | <a href="/medgen?term=%22Carotid%20artery%20tortuosity%22%5BClinical%20Features%5D%20OR%20724577%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_480821"><div><strong>Arterial tortuosity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480821</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.">C3279191</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal tortuous (i.e., twisted) form of arteries.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/480821">Feature record</a> | <a href="/medgen?term=%22Arterial%20tortuosity%22%5BClinical%20Features%5D%20OR%20480821%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870555"><div><strong>Aortic tortuosity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870555</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.">C4025003</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal tortuous (i.e., twisted) form of the aorta.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870555">Feature record</a> | <a href="/medgen?term=%22Aortic%20tortuosity%22%5BClinical%20Features%5D%20OR%20870555%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1386760"><div><strong>Dilatation of the cerebral artery</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1386760</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.">C4476540</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a localized dilatation or ballooning of a cerebral artery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1386760">Feature record</a> | <a href="/medgen?term=%22Dilatation%20of%20the%20cerebral%20artery%22%5BClinical%20Features%5D%20OR%201386760%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1393749"><div><strong>Carotid artery dilatation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1393749</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.">C4476554</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A dilatation (balooning or bulging out of the vessel wall) of a carotid artery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1393749">Feature record</a> | <a href="/medgen?term=%22Carotid%20artery%20dilatation%22%5BClinical%20Features%5D%20OR%201393749%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1677223"><div><strong>Vertebral artery tortuosity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1677223</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.">C5195051</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal tortuous (i.e., twisted) form of the vertebral arteries.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1677223">Feature record</a> | <a href="/medgen?term=%22Vertebral%20artery%20tortuosity%22%5BClinical%20Features%5D%20OR%201677223%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_69137"><div><strong>Tall stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69137</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.">C0241240</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height above that which is expected according to age and gender norms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/69137">Feature record</a> | <a href="/medgen?term=%22Tall%20stature%22%5BClinical%20Features%5D%20OR%2069137%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</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.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_323048"><div><strong>Disproportionate tall stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323048</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.">C1836996</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323048">Feature record</a> | <a href="/medgen?term=%22Disproportionate%20tall%20stature%22%5BClinical%20Features%5D%20OR%20323048%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57451"><div><strong>Migraine</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57451</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.">C0149931</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57451">Feature record</a> | <a href="/medgen?term=%22Migraine%22%5BClinical%20Features%5D%20OR%2057451%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6817"><div><strong>Inguinal hernia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6817</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.">C0019294</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Protrusion of the contents of the abdominal cavity through the inguinal canal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6817">Feature record</a> | <a href="/medgen?term=%22Inguinal%20hernia%22%5BClinical%20Features%5D%20OR%206817%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9232"><div><strong>Umbilical hernia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9232</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.">C0019322</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9232">Feature record</a> | <a href="/medgen?term=%22Umbilical%20hernia%22%5BClinical%20Features%5D%20OR%209232%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45244"><div><strong>Osteoarthritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45244</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.">C0029408</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteoarthritis (OA) is a degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis (Meulenbelt et al., 2006). Clinical problems include pain and joint stiffness often leading to significant disability and joint replacement. Osteoarthritis exhibits a clear predilection for specific joints; it appears most commonly in the hip and knee joints and lumbar and cervical spine, as well as in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints of the hand; however, patients with osteoarthritis may have 1, a few, or all of these sites affected (Stefansson et al., 2003). According to a conservative estimate, greater than 70% of the population of the United States at age 65 years is affected by the disease, reflecting its age dependence. Genetic Heterogeneity of Susceptibility to Osteoarthritis Susceptibility to osteoarthritis has been associated with variation in other genes: OS2 (140600) with variation in the MATN3 gene (602109) on chromosome 2p24; OS3 (607850) with variation in the ASPN gene (608135) on chromosome 9q22; and OS5 (612400) with variation in the GDF5 gene (601146) on chromosome 20q11. Other susceptibility loci for osteoarthritis have been mapped to chromosomes 2q33 (OS4; 610839) and 3p24 (OS6; 612401).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45244">Feature record</a> | <a href="/medgen?term=%22Osteoarthritis%22%5BClinical%20Features%5D%20OR%2045244%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_14530"><div><strong>Osteoarthritis, hip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14530</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.">C0029410</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteoarthritis of the hip joint.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14530">Feature record</a> | <a href="/medgen?term=%22Osteoarthritis%2C%20hip%22%5BClinical%20Features%5D%20OR%2014530%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10494"><div><strong>Osteochondritis dissecans</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10494</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.">C0029421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10494">Feature record</a> | <a href="/medgen?term=%22Osteochondritis%20dissecans%22%5BClinical%20Features%5D%20OR%2010494%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</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.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_102357"><div><strong>Intervertebral disk degeneration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>102357</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.">C0158266</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of degenerative changes of intervertebral disk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/102357">Feature record</a> | <a href="/medgen?term=%22Intervertebral%20disk%20degeneration%22%5BClinical%20Features%5D%20OR%20102357%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65142"><div><strong>Dolichocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65142</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.">C0221358</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65142">Feature record</a> | <a href="/medgen?term=%22Dolichocephaly%22%5BClinical%20Features%5D%20OR%2065142%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_195780"><div><strong>Camptodactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195780</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.">C0685409</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195780">Feature record</a> | <a href="/medgen?term=%22Camptodactyly%22%5BClinical%20Features%5D%20OR%20195780%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336793"><div><strong>Joint hypermobility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336793</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.">C1844820</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336793">Feature record</a> | <a href="/medgen?term=%22Joint%20hypermobility%22%5BClinical%20Features%5D%20OR%20336793%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_349830"><div><strong>Abnormal sternum morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349830</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.">C1860493</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An anomaly of the sternum, also known as the breastbone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349830">Feature record</a> | <a href="/medgen?term=%22Abnormal%20sternum%20morphology%22%5BClinical%20Features%5D%20OR%20349830%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57701"><div><strong>Spontaneous pneumothorax</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57701</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.">C0149781</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pneumothorax occurring without traumatic injury to the chest or lung.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57701">Feature record</a> | <a href="/medgen?term=%22Spontaneous%20pneumothorax%22%5BClinical%20Features%5D%20OR%2057701%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2136"><div><strong>Autoimmunity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2136</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.">C0004368</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The occurrence of an immune reaction against the organism's own cells or tissues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2136">Feature record</a> | <a href="/medgen?term=%22Autoimmunity%22%5BClinical%20Features%5D%20OR%202136%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9370"><div><strong>Allergy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9370</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.">C0020517</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An allergy is an immune response or reaction to substances that are usually not harmful.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9370">Feature record</a> | <a href="/medgen?term=%22Allergy%22%5BClinical%20Features%5D%20OR%209370%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66814"><div><strong>High palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66814</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.">C0240635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66814">Feature record</a> | <a href="/medgen?term=%22High%20palate%22%5BClinical%20Features%5D%20OR%2066814%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98391"><div><strong>Downslanted palpebral fissures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98391</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.">C0423110</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The palpebral fissure inclination is more than two standard deviations below the mean.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98391">Feature record</a> | <a href="/medgen?term=%22Downslanted%20palpebral%20fissures%22%5BClinical%20Features%5D%20OR%2098391%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324419"><div><strong>Long face</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324419</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.">C1836047</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324419">Feature record</a> | <a href="/medgen?term=%22Long%20face%22%5BClinical%20Features%5D%20OR%20324419%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_339938"><div><strong>Midface retrusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339938</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.">C1853242</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339938">Feature record</a> | <a href="/medgen?term=%22Midface%20retrusion%22%5BClinical%20Features%5D%20OR%20339938%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_786050"><div><strong>Broad uvula</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>786050</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.">C3693299</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased width of the uvula (subjective finding).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/786050">Feature record</a> | <a href="/medgen?term=%22Broad%20uvula%22%5BClinical%20Features%5D%20OR%20786050%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1646931"><div><strong>Bifid uvula</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646931</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.">C4551488</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Uvula separated into two parts most easily seen at the tip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646931">Feature record</a> | <a href="/medgen?term=%22Bifid%20uvula%22%5BClinical%20Features%5D%20OR%201646931%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57541"><div><strong>Striae distensae</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57541</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.">C0152459</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Acquired Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Striae%20distensae%22%5BClinical%20Features%5D%20OR%2057541%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140849"><div><strong>Bruising susceptibility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140849</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.">C0423798</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140849">Feature record</a> | <a href="/medgen?term=%22Bruising%20susceptibility%22%5BClinical%20Features%5D%20OR%20140849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373141"><div><strong>Dermal translucency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373141</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.">C1836646</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373141">Feature record</a> | <a href="/medgen?term=%22Dermal%20translucency%22%5BClinical%20Features%5D%20OR%20373141%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336730"><div><strong>Soft skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336730</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.">C1844592</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Subjective impression of increased softness upon palpation of the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336730">Feature record</a> | <a href="/medgen?term=%22Soft%20skin%22%5BClinical%20Features%5D%20OR%20336730%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9373"><div><strong>Hypertelorism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9373</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.">C0020534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9373">Feature record</a> | <a href="/medgen?term=%22Hypertelorism%22%5BClinical%20Features%5D%20OR%209373%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_1646931" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bifid uvula</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_786050" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad uvula</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98391" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Downslanted palpebral fissures</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High palate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324419" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long face</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_339938" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Midface retrusion</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arachnodactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98371" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteoarthritis, knee</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pes planus</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_56524" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abdominal aortic aneurysm</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870555" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aortic tortuosity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_480821" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arterial tortuosity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57436" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bicuspid aortic valve</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1393749" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carotid artery dilatation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488844" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carotid artery dissection</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_724577" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carotid artery tortuosity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1386760" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dilatation of the cerebral artery</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56525" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thoracic aortic aneurysm</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_853" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Transient ischemic attack</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21827" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Varicose disease</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87400" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular hypertrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_657756" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertebral artery aneurysm</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1677223" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertebral artery tortuosity</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_9373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9370" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Allergy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2136" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmunity</a></span></li></ul></li><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_140849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bruising susceptibility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373141" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dermal translucency</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336730" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Soft skin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57541" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Striae distensae</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_349830" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal sternum morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195780" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Camptodactyly</a></span></li><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_65142" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dolichocephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6817" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inguinal hernia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_102357" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intervertebral disk degeneration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint hypermobility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45244" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteoarthritis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14530" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteoarthritis, hip</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10494" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteochondritis dissecans</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Umbilical hernia</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_57451" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Migraine</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_57701" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spontaneous pneumothorax</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_13917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthralgia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_760077" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic fatigue</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_323048" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Disproportionate tall stature</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_69137" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tall stature</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/35058154">Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meester JAN,
|
||
Peeters S,
|
||
Van Den Heuvel L,
|
||
Vandeweyer G,
|
||
Fransen E,
|
||
Cappella E,
|
||
Dietz HC,
|
||
Forbus G,
|
||
Gelb BD,
|
||
Goldmuntz E,
|
||
Hoskoppal A,
|
||
Landstrom AP,
|
||
Lee T,
|
||
Mital S,
|
||
Morris S,
|
||
Olson AK,
|
||
Renard M,
|
||
Roden DM,
|
||
Singh MN,
|
||
Selamet Tierney ES,
|
||
Tretter JT,
|
||
Van Driest SL,
|
||
Willing M,
|
||
Verstraeten A,
|
||
Van Laer L,
|
||
Lacro RV,
|
||
Loeys BL</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2022 May;24(5):1045-1053.
|
||
Epub 2022 Jan 17
|
||
doi: 10.1016/j.gim.2021.12.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35058154" target="_blank">35058154</a><a href="/pmc/articles/PMC9680912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25821090">Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colombi M,
|
||
Dordoni C,
|
||
Chiarelli N,
|
||
Ritelli M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2015 Mar;169C(1):6-22.
|
||
doi: 10.1002/ajmg.c.31429.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25821090" target="_blank">25821090</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24882528">Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boodhwani M,
|
||
Andelfinger G,
|
||
Leipsic J,
|
||
Lindsay T,
|
||
McMurtry MS,
|
||
Therrien J,
|
||
Siu SC;
|
||
Canadian Cardiovascular Society</span><br />
|
||
<span class="medgenPMjournal">Can J Cardiol</span>
|
||
2014 Jun;30(6):577-89.
|
||
Epub 2014 Feb 28
|
||
doi: 10.1016/j.cjca.2014.02.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24882528" target="_blank">24882528</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(loeys-dietz%20syndrome%206)%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 (19)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.nice.org.uk/guidance/ng156" target="_blank">UK NICE Guideline NG156, Abdominal aortic aneurysm: diagnosis and management, 2020</a></h3>
|
||
</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/33476431">Thoracic aortic aneurysms in patients with heritable connective tissue disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Odofin X,
|
||
Houbby N,
|
||
Hagana A,
|
||
Nasser I,
|
||
Ahmed A,
|
||
Harky A</span><br />
|
||
<span class="medgenPMjournal">J Card Surg</span>
|
||
2021 Mar;36(3):1083-1090.
|
||
Epub 2021 Jan 21
|
||
doi: 10.1111/jocs.15340.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33476431" target="_blank">33476431</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33052376">Clinical Features and Outcomes of Pregnancy-Related Acute Aortic Dissection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Braverman AC,
|
||
Mittauer E,
|
||
Harris KM,
|
||
Evangelista A,
|
||
Pyeritz RE,
|
||
Brinster D,
|
||
Conklin L,
|
||
Suzuki T,
|
||
Fanola C,
|
||
Ouzounian M,
|
||
Chen E,
|
||
Myrmel T,
|
||
Bekeredjian R,
|
||
Hutchison S,
|
||
Coselli J,
|
||
Gilon D,
|
||
O'Gara P,
|
||
Davis M,
|
||
Isselbacher E,
|
||
Eagle K</span><br />
|
||
<span class="medgenPMjournal">JAMA Cardiol</span>
|
||
2021 Jan 1;6(1):58-66.
|
||
doi: 10.1001/jamacardio.2020.4876.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33052376" target="_blank">33052376</a><a href="/pmc/articles/PMC7557715" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32053563">Cardiovascular Risks in Patients with Loeys-Dietz Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fideler F,
|
||
Magunia H,
|
||
Grasshoff C</span><br />
|
||
<span class="medgenPMjournal">Anesthesiology</span>
|
||
2020 Jun;132(6):1554.
|
||
doi: 10.1097/ALN.0000000000003190.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32053563" target="_blank">32053563</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27652809">Aortic disease and pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bons LR,
|
||
Roos-Hesselink JW</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Cardiol</span>
|
||
2016 Nov;31(6):611-617.
|
||
doi: 10.1097/HCO.0000000000000336.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27652809" target="_blank">27652809</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23800581">Aortopathies: etiologies, genetics, differential diagnosis, prognosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paterick TE,
|
||
Humphries JA,
|
||
Ammar KA,
|
||
Jan MF,
|
||
Loberg R,
|
||
Bush M,
|
||
Khandheria BK,
|
||
Tajik AJ</span><br />
|
||
<span class="medgenPMjournal">Am J Med</span>
|
||
2013 Aug;126(8):670-8.
|
||
Epub 2013 Jun 22
|
||
doi: 10.1016/j.amjmed.2013.01.029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23800581" target="_blank">23800581</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Loeys-Dietz%20syndrome%206%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 (111)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37870406">Spondyloptosis in Loeys-Dietz syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lynch ME,
|
||
Brandenburg JE,
|
||
Pepperday CA,
|
||
White MJ</span><br />
|
||
<span class="medgenPMjournal">PM R</span>
|
||
2024 Jun;16(6):644-646.
|
||
Epub 2023 Nov 11
|
||
doi: 10.1002/pmrj.13090.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37870406" target="_blank">37870406</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32081706">Loeys-Dietz Syndrome Presenting with Giant Bullae and Asthma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mori R,
|
||
Matsumoto H,
|
||
Muro S,
|
||
Morisaki H,
|
||
Otsuki R</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
|
||
2020 Jun;8(6):2058-2059.
|
||
Epub 2020 Feb 18
|
||
doi: 10.1016/j.jaip.2020.01.046.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32081706" target="_blank">32081706</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31171121">Vascular Involvement in Loeys-Dietz Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jud P,
|
||
Hafner F</span><br />
|
||
<span class="medgenPMjournal">Mayo Clin Proc</span>
|
||
2019 Jun;94(6):1117-1119.
|
||
doi: 10.1016/j.mayocp.2018.12.030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31171121" target="_blank">31171121</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30681372">The Genetics of Pneumothorax.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boone PM,
|
||
Scott RM,
|
||
Marciniak SJ,
|
||
Henske EP,
|
||
Raby BA</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2019 Jun 1;199(11):1344-1357.
|
||
doi: 10.1164/rccm.201807-1212CI.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30681372" target="_blank">30681372</a><a href="/pmc/articles/PMC6543724" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25821090">Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colombi M,
|
||
Dordoni C,
|
||
Chiarelli N,
|
||
Ritelli M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2015 Mar;169C(1):6-22.
|
||
doi: 10.1002/ajmg.c.31429.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25821090" target="_blank">25821090</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Loeys-Dietz%20syndrome%206%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 (102)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38458387">Diameter and dissection of the abdominal aorta and the risk of distal aortic reoperation after surgery for type A aortic dissection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biancari F,
|
||
Perrotti A,
|
||
Juvonen T,
|
||
Mariscalco G,
|
||
Pettinari M,
|
||
Lega JR,
|
||
Di Perna D,
|
||
Mäkikallio T,
|
||
Onorati F,
|
||
Wisniewki K,
|
||
Demal T,
|
||
Pol M,
|
||
Gatti G,
|
||
Vendramin I,
|
||
Rinaldi M,
|
||
Quintana E,
|
||
Peterss S,
|
||
Field M,
|
||
Fiore A</span><br />
|
||
<span class="medgenPMjournal">Int J Cardiol</span>
|
||
2024 Jun 1;404:131938.
|
||
Epub 2024 Mar 7
|
||
doi: 10.1016/j.ijcard.2024.131938.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38458387" target="_blank">38458387</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33283255">Transforming Growth Factor-β and the Renin-Angiotensin System in Syndromic Thoracic Aortic Aneurysms: Implications for Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Dorst DCH,
|
||
de Wagenaar NP,
|
||
van der Pluijm I,
|
||
Roos-Hesselink JW,
|
||
Essers J,
|
||
Danser AHJ</span><br />
|
||
<span class="medgenPMjournal">Cardiovasc Drugs Ther</span>
|
||
2021 Dec;35(6):1233-1252.
|
||
Epub 2020 Dec 7
|
||
doi: 10.1007/s10557-020-07116-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33283255" target="_blank">33283255</a><a href="/pmc/articles/PMC8578102" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31200053">Nonatherosclerotic Abdominal Vasculopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Skeik N,
|
||
Hyde JR,
|
||
Olson SL,
|
||
Thaler CM,
|
||
Abuatiyeh W,
|
||
Ahmed AK,
|
||
Lyon DR,
|
||
Witt DR,
|
||
Garberich R,
|
||
Sullivan T</span><br />
|
||
<span class="medgenPMjournal">Ann Vasc Surg</span>
|
||
2019 Oct;60:128-146.
|
||
Epub 2019 Jun 12
|
||
doi: 10.1016/j.avsg.2019.04.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31200053" target="_blank">31200053</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27521820">Surgical Management of Peripheral Vascular Manifestations of Loeys-Dietz Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beaulieu RJ,
|
||
Lue J,
|
||
Ehlert BA,
|
||
Grimm JC,
|
||
Hicks CW,
|
||
Black JH 3rd</span><br />
|
||
<span class="medgenPMjournal">Ann Vasc Surg</span>
|
||
2017 Jan;38:10-16.
|
||
Epub 2016 Aug 10
|
||
doi: 10.1016/j.avsg.2016.06.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27521820" target="_blank">27521820</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26919284">Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verstraeten A,
|
||
Alaerts M,
|
||
Van Laer L,
|
||
Loeys B</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2016 Jun;37(6):524-31.
|
||
Epub 2016 Mar 14
|
||
doi: 10.1002/humu.22977.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26919284" target="_blank">26919284</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Loeys-Dietz%20syndrome%206%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 (36)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38182694">Diagnosis and treatment of cardiovascular disease in patients with heritable connective tissue disorders or heritable thoracic aortic diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yagyu T,
|
||
Noguchi T</span><br />
|
||
<span class="medgenPMjournal">Cardiovasc Interv Ther</span>
|
||
2024 Apr;39(2):126-136.
|
||
Epub 2024 Jan 5
|
||
doi: 10.1007/s12928-023-00977-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38182694" target="_blank">38182694</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33052376">Clinical Features and Outcomes of Pregnancy-Related Acute Aortic Dissection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Braverman AC,
|
||
Mittauer E,
|
||
Harris KM,
|
||
Evangelista A,
|
||
Pyeritz RE,
|
||
Brinster D,
|
||
Conklin L,
|
||
Suzuki T,
|
||
Fanola C,
|
||
Ouzounian M,
|
||
Chen E,
|
||
Myrmel T,
|
||
Bekeredjian R,
|
||
Hutchison S,
|
||
Coselli J,
|
||
Gilon D,
|
||
O'Gara P,
|
||
Davis M,
|
||
Isselbacher E,
|
||
Eagle K</span><br />
|
||
<span class="medgenPMjournal">JAMA Cardiol</span>
|
||
2021 Jan 1;6(1):58-66.
|
||
doi: 10.1001/jamacardio.2020.4876.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33052376" target="_blank">33052376</a><a href="/pmc/articles/PMC7557715" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31200053">Nonatherosclerotic Abdominal Vasculopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Skeik N,
|
||
Hyde JR,
|
||
Olson SL,
|
||
Thaler CM,
|
||
Abuatiyeh W,
|
||
Ahmed AK,
|
||
Lyon DR,
|
||
Witt DR,
|
||
Garberich R,
|
||
Sullivan T</span><br />
|
||
<span class="medgenPMjournal">Ann Vasc Surg</span>
|
||
2019 Oct;60:128-146.
|
||
Epub 2019 Jun 12
|
||
doi: 10.1016/j.avsg.2019.04.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31200053" target="_blank">31200053</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23800581">Aortopathies: etiologies, genetics, differential diagnosis, prognosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paterick TE,
|
||
Humphries JA,
|
||
Ammar KA,
|
||
Jan MF,
|
||
Loberg R,
|
||
Bush M,
|
||
Khandheria BK,
|
||
Tajik AJ</span><br />
|
||
<span class="medgenPMjournal">Am J Med</span>
|
||
2013 Aug;126(8):670-8.
|
||
Epub 2013 Jun 22
|
||
doi: 10.1016/j.amjmed.2013.01.029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23800581" target="_blank">23800581</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16928994">Aneurysm syndromes caused by mutations in the TGF-beta receptor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Loeys BL,
|
||
Schwarze U,
|
||
Holm T,
|
||
Callewaert BL,
|
||
Thomas GH,
|
||
Pannu H,
|
||
De Backer JF,
|
||
Oswald GL,
|
||
Symoens S,
|
||
Manouvrier S,
|
||
Roberts AE,
|
||
Faravelli F,
|
||
Greco MA,
|
||
Pyeritz RE,
|
||
Milewicz DM,
|
||
Coucke PJ,
|
||
Cameron DE,
|
||
Braverman AC,
|
||
Byers PH,
|
||
De Paepe AM,
|
||
Dietz HC</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2006 Aug 24;355(8):788-98.
|
||
doi: 10.1056/NEJMoa055695.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16928994" target="_blank">16928994</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Loeys-Dietz%20syndrome%206%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 (55)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35058154">Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meester JAN,
|
||
Peeters S,
|
||
Van Den Heuvel L,
|
||
Vandeweyer G,
|
||
Fransen E,
|
||
Cappella E,
|
||
Dietz HC,
|
||
Forbus G,
|
||
Gelb BD,
|
||
Goldmuntz E,
|
||
Hoskoppal A,
|
||
Landstrom AP,
|
||
Lee T,
|
||
Mital S,
|
||
Morris S,
|
||
Olson AK,
|
||
Renard M,
|
||
Roden DM,
|
||
Singh MN,
|
||
Selamet Tierney ES,
|
||
Tretter JT,
|
||
Van Driest SL,
|
||
Willing M,
|
||
Verstraeten A,
|
||
Van Laer L,
|
||
Lacro RV,
|
||
Loeys BL</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2022 May;24(5):1045-1053.
|
||
Epub 2022 Jan 17
|
||
doi: 10.1016/j.gim.2021.12.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35058154" target="_blank">35058154</a><a href="/pmc/articles/PMC9680912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27511817">Neurovascular manifestations of connective-tissue diseases: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim ST,
|
||
Brinjikji W,
|
||
Lanzino G,
|
||
Kallmes DF</span><br />
|
||
<span class="medgenPMjournal">Interv Neuroradiol</span>
|
||
2016 Dec;22(6):624-637.
|
||
Epub 2016 Aug 10
|
||
doi: 10.1177/1591019916659262.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27511817" target="_blank">27511817</a><a href="/pmc/articles/PMC5564353" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26398550">Arterial tortuosity in genetic arteriopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morris SA</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Cardiol</span>
|
||
2015 Nov;30(6):587-93.
|
||
doi: 10.1097/HCO.0000000000000218.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26398550" target="_blank">26398550</a><a href="/pmc/articles/PMC4624847" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24199744">Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pees C,
|
||
Michel-Behnke I,
|
||
Hagl M,
|
||
Laccone F</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2014 Dec;86(6):552-7.
|
||
Epub 2013 Dec 4
|
||
doi: 10.1111/cge.12314.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24199744" target="_blank">24199744</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16928994">Aneurysm syndromes caused by mutations in the TGF-beta receptor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Loeys BL,
|
||
Schwarze U,
|
||
Holm T,
|
||
Callewaert BL,
|
||
Thomas GH,
|
||
Pannu H,
|
||
De Backer JF,
|
||
Oswald GL,
|
||
Symoens S,
|
||
Manouvrier S,
|
||
Roberts AE,
|
||
Faravelli F,
|
||
Greco MA,
|
||
Pyeritz RE,
|
||
Milewicz DM,
|
||
Coucke PJ,
|
||
Cameron DE,
|
||
Braverman AC,
|
||
Byers PH,
|
||
De Paepe AM,
|
||
Dietz HC</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2006 Aug 24;355(8):788-98.
|
||
doi: 10.1056/NEJMoa055695.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16928994" target="_blank">16928994</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Loeys-Dietz%20syndrome%206%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 (60)</a></div></div>
|
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</div>
|
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|
||
<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/36804968">Bone Fragility in Hereditary Connective Tissue Disorders: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Charoenngam N,
|
||
Rittiphairoj T,
|
||
Ponvilawan B,
|
||
Jaroenlapnopparat A,
|
||
Waitayangkoon P,
|
||
Suppakitjanusant P,
|
||
Prasitsumrit V,
|
||
Pongchaiyakul C,
|
||
Holick MF</span><br />
|
||
<span class="medgenPMjournal">Endocr Pract</span>
|
||
2023 Jul;29(7):589-600.
|
||
Epub 2023 Feb 17
|
||
doi: 10.1016/j.eprac.2023.02.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36804968" target="_blank">36804968</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30788842">Systematic review of quality of life in persons with hereditary thoracic aortic aneurysm and dissection diagnoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Velvin G,
|
||
Wilhelmsen JE,
|
||
Johansen H,
|
||
Bathen T,
|
||
Geirdal AØ</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2019 Jun;95(6):661-676.
|
||
Epub 2019 Apr 2
|
||
doi: 10.1111/cge.13522.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30788842" target="_blank">30788842</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Loeys-Dietz%20syndrome%206%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 (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
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||
|
||
</div>
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||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
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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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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|
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|
||
<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5562041%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C5562041%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C5562041%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5562041%5bDISCUI%5d" target="_blank">See all (2)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=619656" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Loeys-Dietz%20syndrome%206" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(loeys-dietz%20syndrome%206)%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><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.nice.org.uk/guidance/ng156">NICE, 2020</a><div>UK NICE Guideline NG156, Abdominal aortic aneurysm: diagnosis and management, 2020</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=601366" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=4087[geneid]" target="_blank">View SMAD2 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=619656" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/loeys_dietz_syndrome_6" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Loeys-Dietz%20syndrome%206" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
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</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301312" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Loeys-Dietz%20syndrome%206" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Loeys-Dietz%20syndrome%206%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1794251" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1794251" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C5562041[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C5562041[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1794251" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=1794251" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1794251" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1794251" ref="log$=recordlinks">PubMed</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=1794251" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=1794251" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=1794251" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
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|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
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|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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Clear
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|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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||
Turn Off
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|
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||
Turn On
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|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb56dc84f3725e594fecf3">Loeys-Dietz syndrome 6</a>
|
||
<div class="ralinkpop offscreen_noflow">Loeys-Dietz syndrome 6<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cb56da84f3725e594fe68c">C5562041[conceptid] <span class="number">(1)</span></a>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
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||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cb56d984f3725e594fe03a">C3553762[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(117)</span></a>
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||
<div class="ralinkpop offscreen_noflow">C3553762[trait identifier] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cb56d884f3725e594fd6cc">C2674574[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(72)</span></a>
|
||
<div class="ralinkpop offscreen_noflow">C2674574[trait identifier] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cb56d784f3725e594fd1c8">C4551955[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(153)</span></a>
|
||
<div class="ralinkpop offscreen_noflow">C4551955[trait identifier] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
</ul>
|
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