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<meta name="keywords" content="C0268336, col5a2, disease or syndrome, eds ii, eds ii, formerly, eds2, formerly, edscl2, ehlers danlos syndrome, mild classic type, ehlers danlos syndrome, mild classic type, formerly, ehlers danlos syndrome, mitis type, ehlers danlos syndrome, mitis type, formerly, ehlers-danlos syndrome classic type 2, ehlers-danlos syndrome type 2, ehlers-danlos syndrome type 2 (formerly), ehlers-danlos syndrome, classic type, 2, ehlers-danlos syndrome, mild classic type, ehlers-danlos syndrome, mitis type, ehlers-danlos syndrome, type 2, ehlers-danlos syndrome, type ii, ehlers-danlos syndrome, type ii, formerly, 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="Classic Ehlers-Danlos syndrome (cEDS) is a heritable connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and generalized joint hypermobility (GJH). The skin is soft, velvety, or doughy to the touch. In addition, the skin is hyperextensible, meaning that it extends easily and snaps back after release. The skin is fragile, as manifested by splitting of the dermis following relatively minor trauma, especially over pressure points (knees, elbows) and areas prone to trauma (shins, forehead, chin). Wound healing is poor, and stretching, thinning, and pigmentation of scars is characteristic, leading to the presence of atrophic and/or hemosiderotic scars. Easy bruising is also a hallmark of cEDS. GJH is present in most but not all affected individuals, evidenced by the presence of a Beighton score of five or greater, either on examination or historically. Joint instability complications may comprise sprains and dislocations/subluxations. Mild muscle hypotonia with delayed motor development, fatigue and muscle cramps, and some skeletal morphologic alterations (scoliosis, pectus deformities, genus/hallux valgus, pes planus) are regularly observed. While aortic root dilatation and mitral valve prolapse are seen in cEDS, they are rarely clinically significant. Arterial aneurysm and rupture have been reported in a few individuals with cEDS." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=120628
|
||
ConceptID=C0268336
|
||
-->
|
||
<!--imgCountBooks = 3--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (3)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1244/bin/eds-Image002.gif" src-large="/books/NBK1244/bin/eds-Image002.jpg" /></a><br /><a href="/books/NBK1244/figure/eds.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1244/bin/eds-Image001.gif" src-large="/books/NBK1244/bin/eds-Image001.jpg" /></a><br /><a href="/books/NBK1244/figure/eds.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1244/bin/eds-Image003.gif" src-large="/books/NBK1244/bin/eds-Image003.jpg" /></a><br /><a href="/books/NBK1244/figure/eds.F3/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Ehlers-Danlos syndrome, classic type, 2<span class="h1sub">(EDSCL2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120628</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:">C0268336</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>EDSCL2; Ehlers-Danlos syndrome type 2 (formerly); Ehlers-Danlos syndrome, type 2</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Ehlers-Danlos syndrome classic type 2 (1287094005)</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="COL5A2 - ID: 1290 - NCBI Gene" href="/gene/1290" class="medgenPMinfo">COL5A2</a> (2q32.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019568" target="_blank">MONDO:0019568</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/130010" target="_blank">130010</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">
|
||
<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/NBK1244" target="_blank">Classic Ehlers-Danlos Syndrome</a></div><div>Classic Ehlers-Danlos syndrome (cEDS) is a heritable connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and generalized joint hypermobility (GJH). The skin is soft, velvety, or doughy to the touch. In addition, the skin is hyperextensible, meaning that it extends easily and snaps back after release. The skin is fragile, as manifested by splitting of the dermis following relatively minor trauma, especially over pressure points (knees, elbows) and areas prone to trauma (shins, forehead, chin). Wound healing is poor, and stretching, thinning, and pigmentation of scars is characteristic, leading to the presence of atrophic and/or hemosiderotic scars. Easy bruising is also a hallmark of cEDS. GJH is present in most but not all affected individuals, evidenced by the presence of a Beighton score of five or greater, either on examination or historically. Joint instability complications may comprise sprains and dislocations/subluxations. Mild muscle hypotonia with delayed motor development, fatigue and muscle cramps, and some skeletal morphologic alterations (scoliosis, pectus deformities, genus/hallux valgus, pes planus) are regularly observed. While aortic root dilatation and mitral valve prolapse are seen in cEDS, they are rarely clinically significant. Arterial aneurysm and rupture have been reported in a few individuals with cEDS. [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/NBK1244#eds.Summary" target="NBK1244">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1244#eds.Diagnosis" target="NBK1244">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1244#eds.Clinical_Characteristics" target="NBK1244">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1244#eds.Genetically_Related_Allelic_Disorder" target="NBK1244">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1244#eds.Differential_Diagnosis" target="NBK1244">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1244#eds.Management" target="NBK1244">Management</a> | <a class="medgenPMinfo" href="/books/NBK1244#eds.Genetic_Counseling" target="NBK1244">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1244#eds.Resources" target="NBK1244">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1244#eds.Molecular_Genetics" target="NBK1244">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1244#eds.Chapter_Notes" target="NBK1244">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1244#eds.References" target="NBK1244">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Fransiska Malfait | Sofie Symoens | Delfien Syx <a href="/books/NBK1244" target="NBK1244" title="NCBI Bookshelf: Classic Ehlers-Danlos 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 />The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). There are both severe and mild forms of classic EDS, previously designated EDS I and EDS II, respectively.
|
||
For a general phenotypic description and a discussion of genetic heterogeneity of classic EDS, see 130000. <a target="_blank" href="http://www.omim.org/entry/130010">http://www.omim.org/entry/130010</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_3130"><div><strong>Clubfoot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3130</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.">C0009081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3130">Feature record</a> | <a href="/medgen?term=%22Clubfoot%22%5BClinical%20Features%5D%20OR%203130%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6816"><div><strong>Hernia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6816</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.">C0019270</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The protrusion of part of an organ or fibroadipose tissue through an abnormal opening.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6816">Feature record</a> | <a href="/medgen?term=%22Hernia%22%5BClinical%20Features%5D%20OR%206816%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9258"><div><strong>Congenital hip dislocation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9258</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.">C0019555</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9258">Feature record</a> | <a href="/medgen?term=%22Congenital%20hip%20dislocation%22%5BClinical%20Features%5D%20OR%209258%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_102356"><div><strong>Recurrent joint dislocation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>102356</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.">C0158100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Injury or Poisoning</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dislocation of a given joint repeated times.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Recurrent%20joint%20dislocation%22%5BClinical%20Features%5D%20OR%20102356%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_322888"><div><strong>Generalized joint hypermobility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322888</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.">C1836308</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322888">Feature record</a> | <a href="/medgen?term=%22Generalized%20joint%20hypermobility%22%5BClinical%20Features%5D%20OR%20322888%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_5502"><div><strong>Hemoptysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5502</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.">C0019079</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5502">Feature record</a> | <a href="/medgen?term=%22Hemoptysis%22%5BClinical%20Features%5D%20OR%205502%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107919"><div><strong>Recurrent sinusitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107919</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.">C0581354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A recurrent form of sinusitis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107919">Feature record</a> | <a href="/medgen?term=%22Recurrent%20sinusitis%22%5BClinical%20Features%5D%20OR%20107919%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_151862"><div><strong>Epicanthus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>151862</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.">C0678230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/151862">Feature record</a> | <a href="/medgen?term=%22Epicanthus%22%5BClinical%20Features%5D%20OR%20151862%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57875"><div><strong>Atrophic scars</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57875</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.">C0162154</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57875">Feature record</a> | <a href="/medgen?term=%22Atrophic%20scars%22%5BClinical%20Features%5D%20OR%2057875%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66023"><div><strong>Hyperextensible skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66023</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.">C0241074</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which the skin can be stretched beyond normal, and then returns to its initial position.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66023">Feature record</a> | <a href="/medgen?term=%22Hyperextensible%20skin%22%5BClinical%20Features%5D%20OR%2066023%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66826"><div><strong>Fragile skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66826</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.">C0241181</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Skin that splits easily with minimal injury.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66826">Feature record</a> | <a href="/medgen?term=%22Fragile%20skin%22%5BClinical%20Features%5D%20OR%2066826%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_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_375465"><div><strong>Molluscoid pseudotumors</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375465</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.">C1844597</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375465">Feature record</a> | <a href="/medgen?term=%22Molluscoid%20pseudotumors%22%5BClinical%20Features%5D%20OR%20375465%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341366"><div><strong>Soft, doughy skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341366</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.">C1849043</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341366">Feature record</a> | <a href="/medgen?term=%22Soft%2C%20doughy%20skin%22%5BClinical%20Features%5D%20OR%20341366%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342099"><div><strong>Cigarette-paper scars</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342099</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.">C1851828</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thin (atrophic) and wide scars.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342099">Feature record</a> | <a href="/medgen?term=%22Cigarette-paper%20scars%22%5BClinical%20Features%5D%20OR%20342099%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_927609"><div><strong>Subcutaneous spheroids</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>927609</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.">C4293700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/927609">Feature record</a> | <a href="/medgen?term=%22Subcutaneous%20spheroids%22%5BClinical%20Features%5D%20OR%20927609%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_151862" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epicanthus</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_3130" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clubfoot</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_57875" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrophic scars</a></span></li><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_342099" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cigarette-paper scars</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66826" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fragile skin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66023" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperextensible skin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_375465" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Molluscoid pseudotumors</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_341366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Soft, doughy skin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_927609" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Subcutaneous spheroids</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_9258" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital hip dislocation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322888" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized joint hypermobility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6816" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hernia</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_102356" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent joint dislocation</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_5502" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemoptysis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107919" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent sinusitis</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0013720[DISCUI]&test_type=Clinical" ref="ncbi_uid=41720">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=41720" ref="ncbi_uid=41720">V</a></span></span><span class="TLline"><a href="/medgen/41720" ref="tree=GTR&ncbi_uid=41720&link_uid=41720" title="View MedGen record for 'Ehlers-Danlos syndrome'">Ehlers-Danlos syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN030853[DISCUI]&test_type=Clinical" ref="ncbi_uid=1841549">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1841549" ref="ncbi_uid=1841549">V</a></span></span><span class="TLline"><a href="/medgen/1841549" ref="tree=GTR&ncbi_uid=1841549&link_uid=1841549" title="View MedGen record for 'Ehlers-Danlos syndrome progeroid type'">Ehlers-Danlos syndrome progeroid type</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2676510[DISCUI]&test_type=Clinical" ref="ncbi_uid=393515">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=393515" target="_blank" href="/omim/608735">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=393515" ref="ncbi_uid=393515">V</a></span></span><span class="TLline"><a href="/medgen/393515" ref="tree=GTR&ncbi_uid=393515&link_uid=393515" title="View MedGen record for 'Ehlers-Danlos syndrome, spondylocheirodysplastic type'">Ehlers-Danlos syndrome, spondylocheirodysplastic type</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4552003[DISCUI]&test_type=Clinical" ref="ncbi_uid=1646889">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1646889" target="_blank" href="/omim/130070">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1646889" ref="ncbi_uid=1646889">V</a></span></span><span class="TLline"><a href="/medgen/1646889" ref="tree=GTR&ncbi_uid=1646889&link_uid=1646889" title="View MedGen record for 'Ehlers-Danlos syndrome, spondylodysplastic type, 1'">Ehlers-Danlos syndrome, spondylodysplastic type, 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3809210[DISCUI]&test_type=Clinical" ref="ncbi_uid=815540">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815540" target="_blank" href="/omim/615291">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815540" ref="ncbi_uid=815540">V</a></span></span><span class="TLline"><a href="/medgen/815540" ref="tree=GTR&ncbi_uid=815540&link_uid=815540" title="View MedGen record for 'Ehlers-Danlos syndrome, spondylodysplastic type, 2'">Ehlers-Danlos syndrome, spondylodysplastic type, 2</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551623[DISCUI]&test_type=Clinical" ref="ncbi_uid=1645042">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1645042" target="_blank" href="/omim/120150">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1645042" ref="ncbi_uid=1645042">V</a></span></span><span class="TLline"><a href="/medgen/1645042" ref="tree=GTR&ncbi_uid=1645042&link_uid=1645042" title="View MedGen record for 'Ehlers-Danlos syndrome, arthrochalasia type'">Ehlers-Danlos syndrome, arthrochalasia type</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3508773[DISCUI]&test_type=Clinical" ref="ncbi_uid=854083">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854083" ref="ncbi_uid=854083">V</a></span></span><span class="TLline"><a href="/medgen/854083" ref="tree=GTR&ncbi_uid=854083&link_uid=854083" title="View MedGen record for 'Ehlers-Danlos syndrome type 7A'">Ehlers-Danlos syndrome type 7A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1851801[DISCUI]&test_type=Clinical" ref="ncbi_uid=342092">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=342092" target="_blank" href="/omim/120160">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/342092" ref="tree=GTR&ncbi_uid=342092&link_uid=342092" title="View MedGen record for 'Ehlers-Danlos syndrome type 7B'">Ehlers-Danlos syndrome type 7B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2700425[DISCUI]&test_type=Clinical" ref="ncbi_uid=397792">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=397792" target="_blank" href="/omim/225410">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=397792" ref="ncbi_uid=397792">V</a></span></span><span class="TLline"><a href="/medgen/397792" ref="tree=GTR&ncbi_uid=397792&link_uid=397792" title="View MedGen record for 'Ehlers-Danlos syndrome, dermatosparaxis type'">Ehlers-Danlos syndrome, dermatosparaxis type</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4225429[DISCUI]&test_type=Clinical" ref="ncbi_uid=909864">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=909864" target="_blank" href="/omim/120150">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1244/" ref="ncbi_uid=909864">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=909864" ref="ncbi_uid=909864">V</a></span></span><span class="TLline"><a href="/medgen/909864" ref="tree=GTR&ncbi_uid=909864&link_uid=909864" title="View MedGen record for 'Ehlers-Danlos syndrome, classic type'">Ehlers-Danlos syndrome, classic type</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268335[DISCUI]&test_type=Clinical" ref="ncbi_uid=78660">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78660" target="_blank" href="/omim/120215">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1244/" ref="ncbi_uid=78660">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78660" ref="ncbi_uid=78660">V</a></span></span><span class="TLline"><a href="/medgen/78660" ref="tree=GTR&ncbi_uid=78660&link_uid=78660" title="View MedGen record for 'Ehlers-Danlos syndrome, classic type, 1'">Ehlers-Danlos syndrome, classic type, 1</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268336[DISCUI]&test_type=Clinical" ref="ncbi_uid=120628">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=120628" target="_blank" href="/omim/120190">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1244/" ref="ncbi_uid=120628">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=120628" ref="ncbi_uid=120628">V</a></span></span><span class="TLline">Ehlers-Danlos syndrome, classic type, 2</span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268337[DISCUI]&test_type=Clinical" ref="ncbi_uid=75670">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75670" target="_blank" href="/omim/130020">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1279/" ref="ncbi_uid=75670">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75670" ref="ncbi_uid=75670">V</a></span></span><span class="TLline"><a href="/medgen/75670" ref="tree=GTR&ncbi_uid=75670&link_uid=75670" title="View MedGen record for 'Ehlers-Danlos syndrome, type 3'">Ehlers-Danlos syndrome, type 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268338[DISCUI]&test_type=Clinical" ref="ncbi_uid=82790">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82790" target="_blank" href="/omim/120180">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1494/" ref="ncbi_uid=82790">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=82790" ref="ncbi_uid=82790">V</a></span></span><span class="TLline"><a href="/medgen/82790" ref="tree=GTR&ncbi_uid=82790&link_uid=82790" title="View MedGen record for 'Ehlers-Danlos syndrome, type 4'">Ehlers-Danlos syndrome, type 4</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/541287" ref="tree=GTR&ncbi_uid=541287&link_uid=541287" title="View MedGen record for 'Autosomal recessive Ehlers-Danlos syndrome, vascular type'">Autosomal recessive Ehlers-Danlos syndrome, vascular type</a></span></li><li class="TLclosed"><span class="TLline"><a href="/medgen/541286" ref="tree=GTR&ncbi_uid=541286&link_uid=541286" title="View MedGen record for 'Ehlers-Danlos syndrome, dominant type 4'">Ehlers-Danlos syndrome, dominant type 4</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/272508" ref="tree=MeSH" title="MedGen record for Connective and Soft Tissue Disorder">Connective and Soft Tissue Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/1098" ref="tree=MeSH" title="MedGen record for Connective tissue disorder">Connective tissue disorder</a></span><ul><li><span class="TLline"><a href="/medgen/473110" ref="tree=MeSH" title="MedGen record for Hereditary disorder of connective tissue">Hereditary disorder of connective tissue</a></span><ul><li><span class="TLline"><a href="/medgen/396965" ref="tree=MeSH" title="MedGen record for COL1A1 Associated Connective Tissue Disorder">COL1A1 Associated Connective Tissue Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/41720" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome">Ehlers-Danlos syndrome</a></span><ul><li><span class="matched_ds">Ehlers-Danlos syndrome, classic type, 2</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=12007&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Ehlers-Danlos syndrome, classic type, 2</span> in Orphanet.</div></div></div>
|
||
</div>
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|
||
<div class="portlet mgSection" id="ID_105">
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<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/29121166">Characteristics, Diagnosis, and Management of Ehlers-Danlos Syndromes: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Joseph AW,
|
||
Joseph SS,
|
||
Francomano CA,
|
||
Kontis TC</span><br />
|
||
<span class="medgenPMjournal">JAMA Facial Plast Surg</span>
|
||
2018 Jan 1;20(1):70-75.
|
||
doi: 10.1001/jamafacial.2017.0793.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29121166" target="_blank">29121166</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(ehlers-danlos%20syndrome%2C%20classic%20type%2C%202)%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 (1)</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>
|
||
<div class="nl"><a target="_blank" href="/pubmed/20145674">Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mayer K,
|
||
Kennerknecht I,
|
||
Steinmann B</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2010 Sep;18(9)
|
||
Epub 2010 Feb 10
|
||
doi: 10.1038/ejhg.2009.227.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20145674" target="_blank">20145674</a><a href="/pmc/articles/PMC2987428" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32162201">Bone Disease in Patients with Ehlers-Danlos Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Basalom S,
|
||
Rauch F</span><br />
|
||
<span class="medgenPMjournal">Curr Osteoporos Rep</span>
|
||
2020 Apr;18(2):95-102.
|
||
doi: 10.1007/s11914-020-00568-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32162201" target="_blank">32162201</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31531849">Classical Ehlers-Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adham S,
|
||
Dupuis-Girod S,
|
||
Charpentier E,
|
||
Mazzella JM,
|
||
Jeunemaitre X,
|
||
Legrand A</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2020 Feb;97(2):357-361.
|
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Epub 2019 Oct 1
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doi: 10.1111/cge.13643.
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<span class="bold">PMID: </span><a href="/pubmed/31531849" target="_blank">31531849</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/29709596">Vascular aspects of the Ehlers-Danlos Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malfait F</span><br />
|
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<span class="medgenPMjournal">Matrix Biol</span>
|
||
2018 Oct;71-72:380-395.
|
||
Epub 2018 Apr 27
|
||
doi: 10.1016/j.matbio.2018.04.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29709596" target="_blank">29709596</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29121166">Characteristics, Diagnosis, and Management of Ehlers-Danlos Syndromes: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Joseph AW,
|
||
Joseph SS,
|
||
Francomano CA,
|
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Kontis TC</span><br />
|
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<span class="medgenPMjournal">JAMA Facial Plast Surg</span>
|
||
2018 Jan 1;20(1):70-75.
|
||
doi: 10.1001/jamafacial.2017.0793.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29121166" target="_blank">29121166</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15607555">A novel therapeutic strategy for Ehlers-Danlos syndrome based on nutritional supplements.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mantle D,
|
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Wilkins RM,
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Preedy V</span><br />
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<span class="medgenPMjournal">Med Hypotheses</span>
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2005;64(2):279-83.
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doi: 10.1016/j.mehy.2004.07.023.
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<span class="bold">PMID: </span><a href="/pubmed/15607555" target="_blank">15607555</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ehlers-Danlos%20syndrome%2C%20classic%20type%2C%202%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (32)</a></div><h3 class="subhead">Diagnosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/36896471">COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and COL1-related overlap disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Venable E,
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Knight DRT,
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Thoreson EK,
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Baudhuin LM</span><br />
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<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
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2023 Jun;193(2):147-159.
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Epub 2023 Mar 9
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doi: 10.1002/ajmg.c.32038.
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<span class="bold">PMID: </span><a href="/pubmed/36896471" target="_blank">36896471</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36241846">Retinal arterial tortuosity in Ehlers-Danlos syndromes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ghoraba HH,
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<span class="medgenPMjournal">Eye (Lond)</span>
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2023 Jun;37(9):1936-1941.
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Epub 2022 Oct 14
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doi: 10.1038/s41433-022-02278-x.
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<div class="nl"><a target="_blank" href="/pubmed/35964930">Phenotype of COL3A1/COL5A2 deletion patients.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kempers MJ,
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Wessels M,
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Van Berendoncks A,
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van de Laar IM,
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de Leeuw N,
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Loeys B</span><br />
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<span class="medgenPMjournal">Eur J Med Genet</span>
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2022 Oct;65(10):104593.
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Epub 2022 Aug 11
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<span class="bold">PMID: </span><a href="/pubmed/35964930" target="_blank">35964930</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32162201">Bone Disease in Patients with Ehlers-Danlos Syndromes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Basalom S,
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Rauch F</span><br />
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<span class="medgenPMjournal">Curr Osteoporos Rep</span>
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2020 Apr;18(2):95-102.
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doi: 10.1007/s11914-020-00568-5.
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<span class="bold">PMID: </span><a href="/pubmed/32162201" target="_blank">32162201</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29121166">Characteristics, Diagnosis, and Management of Ehlers-Danlos Syndromes: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Joseph AW,
|
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Joseph SS,
|
||
Francomano CA,
|
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Kontis TC</span><br />
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<span class="medgenPMjournal">JAMA Facial Plast Surg</span>
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2018 Jan 1;20(1):70-75.
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doi: 10.1001/jamafacial.2017.0793.
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<span class="bold">PMID: </span><a href="/pubmed/29121166" target="_blank">29121166</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ehlers-Danlos%20syndrome%2C%20classic%20type%2C%202%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 (45)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28073822">Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gaisl T,
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Giunta C,
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Bratton DJ,
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Sutherland K,
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Schlatzer C,
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Sievi N,
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Franzen D,
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Cistulli PA,
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Rohrbach M,
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Kohler M</span><br />
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<span class="medgenPMjournal">Thorax</span>
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2017 Aug;72(8):729-735.
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Epub 2017 Jan 10
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doi: 10.1136/thoraxjnl-2016-209560.
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<span class="bold">PMID: </span><a href="/pubmed/28073822" target="_blank">28073822</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/27297501">Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chen W,
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Perritt AF,
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Morissette R,
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Dreiling JL,
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Bohn MF,
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Mallappa A,
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Xu Z,
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2016 Sep;37(9):893-7.
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<span class="bold">PMID: </span><a href="/pubmed/27297501" target="_blank">27297501</a><a href="/pmc/articles/PMC4983206" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/20684735">Skin signs in Ehlers-Danlos syndrome: clinical tests and para-clinical methods.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Remvig L,
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Duhn P,
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Ullman S,
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Arokoski J,
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Jurvelin J,
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Safi A,
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Jensen F,
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<span class="bold">PMID: </span><a href="/pubmed/20684735" target="_blank">20684735</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/20579833">Pain in ehlers-danlos syndrome is common, severe, and associated with functional impairment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Voermans NC,
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Knoop H,
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Bleijenberg G,
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2010 Sep;40(3):370-8.
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<span class="bold">PMID: </span><a href="/pubmed/20579833" target="_blank">20579833</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/15607555">A novel therapeutic strategy for Ehlers-Danlos syndrome based on nutritional supplements.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mantle D,
|
||
Wilkins RM,
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Preedy V</span><br />
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<span class="medgenPMjournal">Med Hypotheses</span>
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2005;64(2):279-83.
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doi: 10.1016/j.mehy.2004.07.023.
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<span class="bold">PMID: </span><a href="/pubmed/15607555" target="_blank">15607555</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ehlers-Danlos%20syndrome%2C%20classic%20type%2C%202%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 (7)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/30856599">Fracture incidence in Ehlers-Danlos syndrome - A population-based case-control study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rolfes MC,
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Deyle DR,
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King KS,
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Hand JL,
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Graff AH,
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Derauf C</span><br />
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<span class="medgenPMjournal">Child Abuse Negl</span>
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2019 May;91:95-101.
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Epub 2019 Mar 8
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doi: 10.1016/j.chiabu.2019.03.008.
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<span class="bold">PMID: </span><a href="/pubmed/30856599" target="_blank">30856599</a><a href="/pmc/articles/PMC7064152" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29121166">Characteristics, Diagnosis, and Management of Ehlers-Danlos Syndromes: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Joseph AW,
|
||
Joseph SS,
|
||
Francomano CA,
|
||
Kontis TC</span><br />
|
||
<span class="medgenPMjournal">JAMA Facial Plast Surg</span>
|
||
2018 Jan 1;20(1):70-75.
|
||
doi: 10.1001/jamafacial.2017.0793.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29121166" target="_blank">29121166</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28073822">Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gaisl T,
|
||
Giunta C,
|
||
Bratton DJ,
|
||
Sutherland K,
|
||
Schlatzer C,
|
||
Sievi N,
|
||
Franzen D,
|
||
Cistulli PA,
|
||
Rohrbach M,
|
||
Kohler M</span><br />
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<span class="medgenPMjournal">Thorax</span>
|
||
2017 Aug;72(8):729-735.
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Epub 2017 Jan 10
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||
doi: 10.1136/thoraxjnl-2016-209560.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28073822" target="_blank">28073822</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24967021">Vascular type Ehlers-Danlos Syndrome with fatal spontaneous rupture of a right common iliac artery dissection: case report and review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abayazeed A,
|
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Hayman E,
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Moghadamfalahi M,
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Cain D</span><br />
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<span class="medgenPMjournal">J Radiol Case Rep</span>
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2014 Feb;8(2):63-9.
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Epub 2014 Feb 1
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doi: 10.3941/jrcr.v8i2.1568.
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<span class="bold">PMID: </span><a href="/pubmed/24967021" target="_blank">24967021</a><a href="/pmc/articles/PMC4037255" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21945330">Endovascular procedures in patients with Ehlers-Danlos syndrome: a review of clinical outcomes and iatrogenic complications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lum YW,
|
||
Brooke BS,
|
||
Arnaoutakis GJ,
|
||
Williams TK,
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Black JH 3rd</span><br />
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<span class="medgenPMjournal">Ann Vasc Surg</span>
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2012 Jan;26(1):25-33.
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Epub 2011 Sep 23
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doi: 10.1016/j.avsg.2011.05.028.
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||
<span class="bold">PMID: </span><a href="/pubmed/21945330" target="_blank">21945330</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ehlers-Danlos%20syndrome%2C%20classic%20type%2C%202%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 (12)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39172992">Investigation of dermal collagen nanostructures in Ehlers-Danlos Syndrome (EDS) patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neshatian M,
|
||
Mittal N,
|
||
Huang S,
|
||
Ali A,
|
||
Khattignavong E,
|
||
Bozec L</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2024;19(8):e0307442.
|
||
Epub 2024 Aug 22
|
||
doi: 10.1371/journal.pone.0307442.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39172992" target="_blank">39172992</a><a href="/pmc/articles/PMC11341037" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36896471">COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and COL1-related overlap disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Venable E,
|
||
Knight DRT,
|
||
Thoreson EK,
|
||
Baudhuin LM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2023 Jun;193(2):147-159.
|
||
Epub 2023 Mar 9
|
||
doi: 10.1002/ajmg.c.32038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36896471" target="_blank">36896471</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32162201">Bone Disease in Patients with Ehlers-Danlos Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Basalom S,
|
||
Rauch F</span><br />
|
||
<span class="medgenPMjournal">Curr Osteoporos Rep</span>
|
||
2020 Apr;18(2):95-102.
|
||
doi: 10.1007/s11914-020-00568-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32162201" target="_blank">32162201</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29709596">Vascular aspects of the Ehlers-Danlos Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malfait F</span><br />
|
||
<span class="medgenPMjournal">Matrix Biol</span>
|
||
2018 Oct;71-72:380-395.
|
||
Epub 2018 Apr 27
|
||
doi: 10.1016/j.matbio.2018.04.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29709596" target="_blank">29709596</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29121166">Characteristics, Diagnosis, and Management of Ehlers-Danlos Syndromes: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Joseph AW,
|
||
Joseph SS,
|
||
Francomano CA,
|
||
Kontis TC</span><br />
|
||
<span class="medgenPMjournal">JAMA Facial Plast Surg</span>
|
||
2018 Jan 1;20(1):70-75.
|
||
doi: 10.1001/jamafacial.2017.0793.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29121166" target="_blank">29121166</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ehlers-Danlos%20syndrome%2C%20classic%20type%2C%202%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 (28)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<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>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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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=C0268336%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (14)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268336%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (21)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268336%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0268336%5bDISCUI%5d" target="_blank">See all (23)</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=130010" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Ehlers-Danlos%20syndrome,%20classic%20type,%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
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|
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<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>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(ehlers-danlos%20syndrome%2C%20classic%20type%2C%202)%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="/pmc/articles/PMC2987428/">EuroGenetest, 2010</a><div>Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII</div></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d372abcde49f3df79231a7">Ehlers-Danlos syndrome, classic type, 2</a>
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