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<meta name="keywords" content="C0013720, cutis elastica, cutis hyperelastica, cutis hyperelastica dermatorrhexis, danlos disease, danlos disease, ehlers, danlos ehlers syndrome, disease or syndrome, disease, ehlers danlos, disease, ehlers-danlos, dystrophia mesodermalis congenita, ed syndrome, eds, ehler danlos syndrome, ehlers danlos disease, ehlers danlos syndrome, ehlers-danlos disease, ehlers-danlos syndrome, ehlers-danlos syndromes, elastic skin, fibrodysplasia elastica generalisata, hereditary collagen dysplasia, india rubber skin, meekeren-ehlers-danlos syndrome, skin elastic, syndrome, ehlers-danlos, 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="Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.\n\nThe various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features. In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were identified more recently. The 2017 classification describes 13 types of Ehlers-Danlos syndrome.\n\nAn unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth.\n\nMany people with the Ehlers-Danlos syndromes have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by loose skin that sags and wrinkles, and extra (redundant) folds of skin may be present.\n\nOther types of Ehlers-Danlos syndrome have additional signs and symptoms. The cardiac-valvular type causes severe problems with the valves that control the movement of blood through the heart. People with the kyphoscoliotic type experience severe curvature of the spine that worsens over time and can interfere with breathing by restricting lung expansion. A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and myopathic forms of Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the teeth and gums.\n\nBleeding problems are common in the vascular type of Ehlers-Danlos syndrome and are caused by unpredictable tearing (rupture) of blood vessels and organs. These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. Additional forms of Ehlers-Danlos syndrome that involve rupture of the blood vessels include the kyphoscoliotic, classical, and classical-like types." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=41720
|
||
ConceptID=C0013720
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Ehlers-Danlos syndrome<span class="h1sub">(EDS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41720</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.">C0013720</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>ED syndrome; EDS</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Ehlers-Danlos syndrome (398114001); Cutis hyperelastica dermatorrhexis (398114001); Dystrophia mesodermalis congenita (398114001); India rubber skin (398114001); Hereditary collagen dysplasia (398114001); Meekeren-Ehlers-Danlos syndrome (398114001); Cutis elastica (398114001); Cutis hyperelastica (398114001); Danlos disease (398114001); Fibrodysplasia elastica generalisata (398114001)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/126792">B3GALT6</a>, <a target="_blank" href="/gene/91252">SLC39A13</a>, <a target="_blank" href="/gene/11285">B4GALT7</a>, <a target="_blank" href="/gene/9509">ADAMTS2</a>, <a target="_blank" href="/gene/1290">COL5A2</a>, <a target="_blank" href="/gene/1289">COL5A1</a>, <a target="_blank" href="/gene/1281">COL3A1</a>, <a target="_blank" href="/gene/1277">COL1A1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0020066" target="_blank">MONDO:0020066</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS130000" target="_blank">PS130000</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98249">ORPHA98249</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.<br /><br />The various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features. In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were identified more recently. The 2017 classification describes 13 types of Ehlers-Danlos syndrome.<br /><br />An unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth.<br /><br />Many people with the Ehlers-Danlos syndromes have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by loose skin that sags and wrinkles, and extra (redundant) folds of skin may be present.<br /><br />Other types of Ehlers-Danlos syndrome have additional signs and symptoms. The cardiac-valvular type causes severe problems with the valves that control the movement of blood through the heart. People with the kyphoscoliotic type experience severe curvature of the spine that worsens over time and can interfere with breathing by restricting lung expansion. A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and myopathic forms of Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the teeth and gums.<br /><br />Bleeding problems are common in the vascular type of Ehlers-Danlos syndrome and are caused by unpredictable tearing (rupture) of blood vessels and organs. These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. Additional forms of Ehlers-Danlos syndrome that involve rupture of the blood vessels include the kyphoscoliotic, classical, and classical-like types. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><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="matched_ds"><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">Ehlers-Danlos syndrome</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="TLclosed"><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"><a href="/medgen/120628" ref="tree=GTR&ncbi_uid=120628&link_uid=120628" title="View MedGen record for 'Ehlers-Danlos syndrome, classic type, 2'">Ehlers-Danlos syndrome, classic 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=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/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><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="matched_ds">Ehlers-Danlos syndrome</span><ul><li><span class="TLline"><a href="/medgen/78662" ref="tree=MeSH" title="MedGen record for Arthrochalasia Ehlers-Danlos syndrome">Arthrochalasia Ehlers-Danlos syndrome</a></span></li><li><span class="TLline"><a href="/medgen/907426" ref="tree=MeSH" title="MedGen record for Bethlem myopathy 2">Bethlem myopathy 2</a></span></li><li><span class="TLline"><a href="/medgen/946156" ref="tree=MeSH" title="MedGen record for Brittle cornea syndrome">Brittle cornea syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/78661" ref="tree=MeSH" title="MedGen record for Brittle cornea syndrome 1">Brittle cornea syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/481641" ref="tree=MeSH" title="MedGen record for Brittle cornea syndrome 2">Brittle cornea syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/336244" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome due to tenascin-X deficiency">Ehlers-Danlos syndrome due to tenascin-X deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1841549" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome progeroid type">Ehlers-Danlos syndrome progeroid type</a></span><ul><li><span class="TLline"><a href="/medgen/393515" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, spondylocheirodysplastic type">Ehlers-Danlos syndrome, spondylocheirodysplastic type</a></span></li><li><span class="TLline"><a href="/medgen/1646889" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, spondylodysplastic type, 1">Ehlers-Danlos syndrome, spondylodysplastic type, 1</a></span></li><li><span class="TLline"><a href="/medgen/815540" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, spondylodysplastic type, 2">Ehlers-Danlos syndrome, spondylodysplastic type, 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1645042" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, arthrochalasia type">Ehlers-Danlos syndrome, arthrochalasia type</a></span><ul><li><span class="TLline"><a href="/medgen/854083" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome type 7A">Ehlers-Danlos syndrome type 7A</a></span></li><li><span class="TLline"><a href="/medgen/342092" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome type 7B">Ehlers-Danlos syndrome type 7B</a></span></li><li><span class="TLline"><a href="/medgen/397792" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, dermatosparaxis type">Ehlers-Danlos syndrome, dermatosparaxis type</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/929458" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, cardiac valvular type">Ehlers-Danlos syndrome, cardiac valvular type</a></span></li><li><span class="TLline"><a href="/medgen/909864" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, classic type">Ehlers-Danlos syndrome, classic type</a></span><ul><li><span class="TLline"><a href="/medgen/78660" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, classic type, 1">Ehlers-Danlos syndrome, classic type, 1</a></span></li><li><span class="TLline"><a href="/medgen/120628" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, classic type, 2">Ehlers-Danlos syndrome, classic type, 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1632001" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, classic-like, 2">Ehlers-Danlos syndrome, classic-like, 2</a></span></li><li><span class="TLline"><a href="/medgen/75672" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, kyphoscoliotic type 1">Ehlers-Danlos syndrome, kyphoscoliotic type 1</a></span></li><li><span class="TLline"><a href="/medgen/356497" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, musculocontractural type">Ehlers-Danlos syndrome, musculocontractural type</a></span></li><li><span class="TLline"><a href="/medgen/82791" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, periodontitis type">Ehlers-Danlos syndrome, periodontitis type</a></span><ul><li><span class="TLline"><a href="/medgen/1642148" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, periodontal type 1">Ehlers-Danlos syndrome, periodontal type 1</a></span></li><li><span class="TLline"><a href="/medgen/934648" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, periodontal type 2">Ehlers-Danlos syndrome, periodontal type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75670" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, type 3">Ehlers-Danlos syndrome, type 3</a></span></li><li><span class="TLline"><a href="/medgen/82790" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, type 4">Ehlers-Danlos syndrome, type 4</a></span><ul><li><span class="TLline"><a href="/medgen/541287" ref="tree=MeSH" title="MedGen record for Autosomal recessive Ehlers-Danlos syndrome, vascular type">Autosomal recessive Ehlers-Danlos syndrome, vascular type</a></span></li><li><span class="TLline"><a href="/medgen/541286" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, dominant type 4">Ehlers-Danlos syndrome, dominant type 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1639430" ref="tree=MeSH" title="MedGen record for Kyphoscoliotic Ehlers-Danlos syndrome">Kyphoscoliotic Ehlers-Danlos syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/482790" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, kyphoscoliotic type, 2">Ehlers-Danlos syndrome, kyphoscoliotic type, 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1814455" ref="tree=MeSH" title="MedGen record for Spondylodysplastic Ehlers-Danlos syndrome">Spondylodysplastic Ehlers-Danlos syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75671" ref="tree=MeSH" title="MedGen record for X-linked Ehlers-Danlos syndrome">X-linked Ehlers-Danlos syndrome</a></span></li></ul></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=13266&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Ehlers-Danlos syndrome</span> in Orphanet.</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/36082197">Cervical Artery Dissections: Etiopathogenesis and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keser Z,
|
||
Chiang CC,
|
||
Benson JC,
|
||
Pezzini A,
|
||
Lanzino G</span><br />
|
||
<span class="medgenPMjournal">Vasc Health Risk Manag</span>
|
||
2022;18:685-700.
|
||
Epub 2022 Sep 2
|
||
doi: 10.2147/VHRM.S362844.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36082197" target="_blank">36082197</a><a href="/pmc/articles/PMC9447449" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34145717">Physical therapy treatment of hypermobile Ehlers-Danlos syndrome: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reychler G,
|
||
De Backer MM,
|
||
Piraux E,
|
||
Poncin W,
|
||
Caty G</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 Oct;185(10):2986-2994.
|
||
Epub 2021 Jun 19
|
||
doi: 10.1002/ajmg.a.62393.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34145717" target="_blank">34145717</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28186390">Pain management in the Ehlers-Danlos syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chopra P,
|
||
Tinkle B,
|
||
Hamonet C,
|
||
Brock I,
|
||
Gompel A,
|
||
Bulbena A,
|
||
Francomano C</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2017 Mar;175(1):212-219.
|
||
Epub 2017 Feb 10
|
||
doi: 10.1002/ajmg.c.31554.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28186390" target="_blank">28186390</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22ehlers-danlos%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (122)</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/34145717">Physical therapy treatment of hypermobile Ehlers-Danlos syndrome: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reychler G,
|
||
De Backer MM,
|
||
Piraux E,
|
||
Poncin W,
|
||
Caty G</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 Oct;185(10):2986-2994.
|
||
Epub 2021 Jun 19
|
||
doi: 10.1002/ajmg.a.62393.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34145717" target="_blank">34145717</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32629534">Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gensemer C,
|
||
Burks R,
|
||
Kautz S,
|
||
Judge DP,
|
||
Lavallee M,
|
||
Norris RA</span><br />
|
||
<span class="medgenPMjournal">Dev Dyn</span>
|
||
2021 Mar;250(3):318-344.
|
||
Epub 2020 Aug 17
|
||
doi: 10.1002/dvdy.220.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32629534" target="_blank">32629534</a><a href="/pmc/articles/PMC7785693" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33113401">Ehlers-Danlos Syndrome in Pregnancy: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kang J,
|
||
Hanif M,
|
||
Mirza E,
|
||
Jaleel S</span><br />
|
||
<span class="medgenPMjournal">Eur J Obstet Gynecol Reprod Biol</span>
|
||
2020 Dec;255:118-123.
|
||
Epub 2020 Oct 17
|
||
doi: 10.1016/j.ejogrb.2020.10.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33113401" target="_blank">33113401</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32732924">The Ehlers-Danlos syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malfait F,
|
||
Castori M,
|
||
Francomano CA,
|
||
Giunta C,
|
||
Kosho T,
|
||
Byers PH</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2020 Jul 30;6(1):64.
|
||
doi: 10.1038/s41572-020-0194-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32732924" target="_blank">32732924</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18324963">Ehlers-Danlos syndrome--a historical review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parapia LA,
|
||
Jackson C</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2008 Apr;141(1):32-5.
|
||
doi: 10.1111/j.1365-2141.2008.06994.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18324963" target="_blank">18324963</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ehlers-Danlos%20syndrome%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 (1067)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32249022">Symptomatic joint hypermobility.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tinkle BT</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Rheumatol</span>
|
||
2020 Jun;34(3):101508.
|
||
Epub 2020 Apr 3
|
||
doi: 10.1016/j.berh.2020.101508.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32249022" target="_blank">32249022</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31904772">The Many Facets of Hypermobile Ehlers-Danlos Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riley B</span><br />
|
||
<span class="medgenPMjournal">J Am Osteopath Assoc</span>
|
||
2020 Jan 1;120(1):30-32.
|
||
doi: 10.7556/jaoa.2020.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31904772" target="_blank">31904772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31533917">Ehlers-Danlos syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ghali N,
|
||
Sobey G,
|
||
Burrows N</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2019 Sep 18;366:l4966.
|
||
doi: 10.1136/bmj.l4966.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31533917" target="_blank">31533917</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28145611">Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tinkle B,
|
||
Castori M,
|
||
Berglund B,
|
||
Cohen H,
|
||
Grahame R,
|
||
Kazkaz H,
|
||
Levy H</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2017 Mar;175(1):48-69.
|
||
Epub 2017 Feb 1
|
||
doi: 10.1002/ajmg.c.31538.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28145611" target="_blank">28145611</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25459960">Ehlers-Danlos syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Christophersen C,
|
||
Adams JE</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2014 Dec;39(12):2542-4.
|
||
Epub 2014 Nov 21
|
||
doi: 10.1016/j.jhsa.2014.08.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25459960" target="_blank">25459960</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ehlers-Danlos%20syndrome%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 (1615)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34145717">Physical therapy treatment of hypermobile Ehlers-Danlos syndrome: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reychler G,
|
||
De Backer MM,
|
||
Piraux E,
|
||
Poncin W,
|
||
Caty G</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 Oct;185(10):2986-2994.
|
||
Epub 2021 Jun 19
|
||
doi: 10.1002/ajmg.a.62393.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34145717" target="_blank">34145717</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28757265">Pathophysiology of Eosinophilic Esophagitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Shea KM,
|
||
Aceves SS,
|
||
Dellon ES,
|
||
Gupta SK,
|
||
Spergel JM,
|
||
Furuta GT,
|
||
Rothenberg ME</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2018 Jan;154(2):333-345.
|
||
Epub 2017 Jul 27
|
||
doi: 10.1053/j.gastro.2017.06.065.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28757265" target="_blank">28757265</a><a href="/pmc/articles/PMC5787048" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28306230">The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Engelbert RH,
|
||
Juul-Kristensen B,
|
||
Pacey V,
|
||
de Wandele I,
|
||
Smeenk S,
|
||
Woinarosky N,
|
||
Sabo S,
|
||
Scheper MC,
|
||
Russek L,
|
||
Simmonds JV</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2017 Mar;175(1):158-167.
|
||
doi: 10.1002/ajmg.c.31545.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28306230" target="_blank">28306230</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24443023">Loeys-Dietz syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van Laer L,
|
||
Dietz H,
|
||
Loeys B</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2014;802:95-105.
|
||
doi: 10.1007/978-94-007-7893-1_7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24443023" target="_blank">24443023</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,
|
||
Wilkins RM,
|
||
Preedy V</span><br />
|
||
<span class="medgenPMjournal">Med Hypotheses</span>
|
||
2005;64(2):279-83.
|
||
doi: 10.1016/j.mehy.2004.07.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15607555" target="_blank">15607555</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ehlers-Danlos%20syndrome%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 (311)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37108184">The Role of Mast Cells in the Induction and Maintenance of Inflammation in Selected Skin Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Woźniak E,
|
||
Owczarczyk-Saczonek A,
|
||
Lange M,
|
||
Czarny J,
|
||
Wygonowska E,
|
||
Placek W,
|
||
Nedoszytko B</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Apr 10;24(8)
|
||
doi: 10.3390/ijms24087021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37108184" target="_blank">37108184</a><a href="/pmc/articles/PMC10139379" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34686263">Thoracic Aortic Aneurysm: A Clinical Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Senser EM,
|
||
Misra S,
|
||
Henkin S</span><br />
|
||
<span class="medgenPMjournal">Cardiol Clin</span>
|
||
2021 Nov;39(4):505-515.
|
||
doi: 10.1016/j.ccl.2021.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34686263" target="_blank">34686263</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34503384">Sensing hand position in Ehlers-Danlos syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clayton HA,
|
||
't Hart BM,
|
||
Henriques DYP</span><br />
|
||
<span class="medgenPMjournal">Somatosens Mot Res</span>
|
||
2021 Dec;38(4):303-314.
|
||
Epub 2021 Sep 9
|
||
doi: 10.1080/08990220.2021.1973403.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34503384" target="_blank">34503384</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33228937">Pulmonary Manifestations of Skin Disorders in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen BA,
|
||
Turcios NL</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2021 Feb;68(1):261-276.
|
||
doi: 10.1016/j.pcl.2020.09.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33228937" target="_blank">33228937</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10706896">Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pepin M,
|
||
Schwarze U,
|
||
Superti-Furga A,
|
||
Byers PH</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2000 Mar 9;342(10):673-80.
|
||
doi: 10.1056/NEJM200003093421001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10706896" target="_blank">10706896</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ehlers-Danlos%20syndrome%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 (406)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37143135">Pediatric joint hypermobility: a diagnostic framework and narrative review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tofts LJ,
|
||
Simmonds J,
|
||
Schwartz SB,
|
||
Richheimer RM,
|
||
O'Connor C,
|
||
Elias E,
|
||
Engelbert R,
|
||
Cleary K,
|
||
Tinkle BT,
|
||
Kline AD,
|
||
Hakim AJ,
|
||
van Rossum MAJ,
|
||
Pacey V</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 May 4;18(1):104.
|
||
doi: 10.1186/s13023-023-02717-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37143135" target="_blank">37143135</a><a href="/pmc/articles/PMC10157984" 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/34145717">Physical therapy treatment of hypermobile Ehlers-Danlos syndrome: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reychler G,
|
||
De Backer MM,
|
||
Piraux E,
|
||
Poncin W,
|
||
Caty G</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 Oct;185(10):2986-2994.
|
||
Epub 2021 Jun 19
|
||
doi: 10.1002/ajmg.a.62393.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34145717" target="_blank">34145717</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33738549">The Beighton Score as a measure of generalised joint hypermobility.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malek S,
|
||
Reinhold EJ,
|
||
Pearce GS</span><br />
|
||
<span class="medgenPMjournal">Rheumatol Int</span>
|
||
2021 Oct;41(10):1707-1716.
|
||
Epub 2021 Mar 18
|
||
doi: 10.1007/s00296-021-04832-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33738549" target="_blank">33738549</a><a href="/pmc/articles/PMC8390395" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20847697">Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malfait F,
|
||
Wenstrup RJ,
|
||
De Paepe A</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2010 Oct;12(10):597-605.
|
||
doi: 10.1097/GIM.0b013e3181eed412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20847697" target="_blank">20847697</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ehlers-Danlos%20syndrome%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 (601)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38926786">Vascular Ehlers-Danlos syndrome and pregnancy: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haem T,
|
||
Benson B,
|
||
Dernoncourt A,
|
||
Gondry J,
|
||
Schmidt J,
|
||
Foulon A</span><br />
|
||
<span class="medgenPMjournal">BJOG</span>
|
||
2024 Nov;131(12):1620-1629.
|
||
Epub 2024 Jun 26
|
||
doi: 10.1111/1471-0528.17893.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38926786" target="_blank">38926786</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35750466">Hypermobile Ehlers-Danlos syndrome and disorders of the gastrointestinal tract: What the gastroenterologist needs to know.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thwaites PA,
|
||
Gibson PR,
|
||
Burgell RE</span><br />
|
||
<span class="medgenPMjournal">J Gastroenterol Hepatol</span>
|
||
2022 Sep;37(9):1693-1709.
|
||
Epub 2022 Jul 20
|
||
doi: 10.1111/jgh.15927.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35750466" target="_blank">35750466</a><a href="/pmc/articles/PMC9544979" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35162892">Ehlers-Danlos Syndrome Type Arthrochalasia: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martín-Martín M,
|
||
Cortés-Martín J,
|
||
Tovar-Gálvez MI,
|
||
Sánchez-García JC,
|
||
Díaz-Rodríguez L,
|
||
Rodríguez-Blanque R</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2022 Feb 7;19(3)
|
||
doi: 10.3390/ijerph19031870.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35162892" target="_blank">35162892</a><a href="/pmc/articles/PMC8835098" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34145717">Physical therapy treatment of hypermobile Ehlers-Danlos syndrome: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reychler G,
|
||
De Backer MM,
|
||
Piraux E,
|
||
Poncin W,
|
||
Caty G</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 Oct;185(10):2986-2994.
|
||
Epub 2021 Jun 19
|
||
doi: 10.1002/ajmg.a.62393.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34145717" target="_blank">34145717</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32826308">The management of adult patients with severe chronic small intestinal dysmotility.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nightingale JMD,
|
||
Paine P,
|
||
McLaughlin J,
|
||
Emmanuel A,
|
||
Martin JE,
|
||
Lal S;
|
||
Small Bowel and Nutrition Committee and the Neurogastroenterology and Motility Committee of the British Society of Gastroenterology</span><br />
|
||
<span class="medgenPMjournal">Gut</span>
|
||
2020 Dec;69(12):2074-2092.
|
||
Epub 2020 Aug 21
|
||
doi: 10.1136/gutjnl-2020-321631.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32826308" target="_blank">32826308</a><a href="/pmc/articles/PMC7677490" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ehlers-Danlos%20syndrome%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 (38)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
||
|
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|
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<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0013720%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (49)</a></li>
|
||
<li><a href="/gtr/tests?term=C0013720%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0013720%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (72)</a></li>
|
||
<li><a href="/gtr/tests?term=C0013720%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (33)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0013720%5bDISCUI%5d" target="_blank">See all (77)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS130000" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=98249" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Ehlers-Danlos%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</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=(%22ehlers-danlos%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Ehlers-Danlos%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Ehlers-Danlos%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/6322/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/clinical?term=Ehlers-Danlos%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Ehlers-Danlos%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0013720[DISCUI]" ref="log$=recordlinks">GTR</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0013720[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
|
||
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<div class="row">
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<div class="col-lg-12 centered-lg">
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<nav class="bottom-links">
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<ul class="mt-3">
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||
<li>
|
||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
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<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
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<li>
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<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
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