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<meta name="keywords" content="C1836308, finding, generalised joint laxity, generalized joint hypermobility, generalized joint laxity, hypermobility of all joints, joint hypermobility, generalized, joint laxity, generalised, joint laxity, generalized, 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="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." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=322888
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ConceptID=C1836308
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Generalized joint hypermobility</div></h1><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><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Generalized joint laxity</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002761">HP:0002761</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">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. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Generalized joint hypermobility</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/1728335" ref="tree=MeSH" title="MedGen record for Abnormal musculoskeletal physiology">Abnormal musculoskeletal physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1841757" ref="tree=MeSH" title="MedGen record for Abnormal joint physiology">Abnormal joint physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868806" ref="tree=MeSH" title="MedGen record for Abnormality of joint mobility">Abnormality of joint mobility</a></span><ul><li><span class="TLline"><a href="/medgen/336793" ref="tree=MeSH" title="MedGen record for Joint hypermobility">Joint hypermobility</a></span><ul><li><span class="matched_ds">Generalized joint hypermobility</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_1289"><div><strong>Achondroplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1289</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.">C0001080</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Achondroplasia is the most common cause of disproportionate short stature. Affected individuals have rhizomelic shortening of the limbs, macrocephaly, and characteristic facial features with frontal bossing and midface retrusion. In infancy, hypotonia is typical, and acquisition of developmental motor milestones is often both aberrant in pattern and delayed. Intelligence and life span are usually near normal, although craniocervical junction compression increases the risk of death in infancy. Additional complications include obstructive sleep apnea, middle ear dysfunction, kyphosis, and spinal stenosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1289">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120628"><div><strong>Ehlers-Danlos syndrome, classic type, 2</strong><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.">C0268336</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120628">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333031"><div><strong>CODAS syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333031</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.">C1838180</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CODAS is an acronym for cerebral, ocular, dental, auricular, and skeletal anomalies. CODAS syndrome is a rare disorder characterized by a distinctive constellation of features that includes developmental delay, craniofacial anomalies, cataracts, ptosis, median nasal groove, delayed tooth eruption, hearing loss, short stature, delayed epiphyseal ossification, metaphyseal hip dysplasia, and vertebral coronal clefts (summary by Strauss et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333031">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_325376"><div><strong>Multiple epiphyseal dysplasia type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325376</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.">C1838280</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children report fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/325376">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356497"><div><strong>Ehlers-Danlos syndrome, musculocontractural type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356497</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.">C1866294</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.\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\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\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\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\nEhlers-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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356497">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419177"><div><strong>Familial hypertryptophanemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419177</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.">C2931837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital hypertryptophanemia, which is accompanied by hyperserotonemia, does not appear to have significant clinical consequences (Ferreira et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419177">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462561"><div><strong>Osteogenesis imperfecta type 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462561</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.">C3151211</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type X is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclera (Christiansen et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462561">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1642148"><div><strong>Ehlers-Danlos syndrome, periodontal type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642148</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.">C4551499</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Periodontal Ehlers-Danlos syndrome (pEDS) is characterized by distinct oral manifestations. Periodontal tissue breakdown beginning in the teens results in premature loss of teeth. Lack of attached gingiva and thin and fragile gums lead to gingival recession. Connective tissue abnormalities of pEDS typically include easy bruising, pretibial plaques, distal joint hypermobility, hoarse voice, and less commonly manifestations such as organ or vessel rupture. Since the first descriptions of pEDS in the 1970s, 148 individuals have been reported in the literature; however, future in-depth descriptions of non-oral manifestations in newly diagnosed individuals with a molecularly confirmed diagnosis of pEDS will be important to further define the clinical features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1642148">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1632001"><div><strong>Ehlers-Danlos syndrome, classic-like, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632001</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.">C4693870</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ehlers-Danlos syndrome classic-like-2 (EDSCLL2) is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018). For a discussion of genetic heterogeneity of classic-like Ehlers-Danlos syndrome, see 606408. For a discussion of the classification of EDS, see 130000.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1632001">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794165"><div><strong>VISS syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794165</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.">C5561955</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instability), craniofacial features (hypertelorism, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794165">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1289" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Achondroplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333031" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CODAS syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120628" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, classic type, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1632001" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, classic-like, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, musculocontractural type</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (10)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1642148" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, periodontal type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419177" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial hypertryptophanemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325376" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple epiphyseal dysplasia type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462561" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta type 10</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794165" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">VISS syndrome</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35465943">Diagnosis and Treatment of Carpometacarpal Instability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Warwick D,
|
||
Fetouh S</span><br />
|
||
<span class="medgenPMjournal">Hand Clin</span>
|
||
2022 May;38(2):261-268.
|
||
doi: 10.1016/j.hcl.2021.11.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35465943" target="_blank">35465943</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34226016">Editorial Commentary: Diagnosis and Treatment of Generalized Joint Hypermobility in Patients With Anterior Cruciate Ligament Injury.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sundemo D,
|
||
Senorski EH,
|
||
Samuelsson K</span><br />
|
||
<span class="medgenPMjournal">Arthroscopy</span>
|
||
2021 Jul;37(7):2348-2350.
|
||
doi: 10.1016/j.arthro.2021.03.052.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34226016" target="_blank">34226016</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25821090">Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colombi M,
|
||
Dordoni C,
|
||
Chiarelli N,
|
||
Ritelli M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2015 Mar;169C(1):6-22.
|
||
doi: 10.1002/ajmg.c.31429.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25821090" target="_blank">25821090</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22generalized%20joint%20hypermobility%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 (17)</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/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/35945775">Joint hypermobility and preschool-age flexible flatfoot.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsai CC,
|
||
Chih YC,
|
||
Shih CL,
|
||
Chen SJ,
|
||
Shen PC,
|
||
Tien YC</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2022 Aug 5;101(31):e29608.
|
||
doi: 10.1097/MD.0000000000029608.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35945775" target="_blank">35945775</a><a href="/pmc/articles/PMC9351925" target="_blank" class="PubMedFree">Free PMC Article</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/25821089">Generalized joint hypermobility, joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castori M,
|
||
Colombi M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2015 Mar;169C(1):1-5.
|
||
doi: 10.1002/ajmg.c.31432.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25821089" target="_blank">25821089</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=%22Generalized%20joint%20hypermobility%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 (139)</a></div><h3 class="subhead">Diagnosis</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/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/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/30414656">Revision of Surgical Lateral Ankle Ligament Stabilization.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Neil JT,
|
||
Guyton GP</span><br />
|
||
<span class="medgenPMjournal">Foot Ankle Clin</span>
|
||
2018 Dec;23(4):605-624.
|
||
Epub 2018 Sep 22
|
||
doi: 10.1016/j.fcl.2018.07.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30414656" target="_blank">30414656</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25821090">Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colombi M,
|
||
Dordoni C,
|
||
Chiarelli N,
|
||
Ritelli M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2015 Mar;169C(1):6-22.
|
||
doi: 10.1002/ajmg.c.31429.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25821090" target="_blank">25821090</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20joint%20hypermobility%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 (119)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38512841">Web-based survey investigating cardiovascular complications in hypermobile Ehlers-Danlos syndrome after COVID-19 infection and vaccination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerrerio AL,
|
||
Mateja A,
|
||
MacCarrick G,
|
||
Fintzi J,
|
||
Brittain E,
|
||
Frischmeyer-Guerrerio PA,
|
||
Dietz HC</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2024;19(3):e0298272.
|
||
Epub 2024 Mar 21
|
||
doi: 10.1371/journal.pone.0298272.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38512841" target="_blank">38512841</a><a href="/pmc/articles/PMC10956836" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37952744">Hip Arthroscopy in Patients With Generalized Joint Hypermobility Yields Successful Outcomes: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arshad Z,
|
||
Marway P,
|
||
Shoman H,
|
||
Ubong S,
|
||
Hussain A,
|
||
Khanduja V</span><br />
|
||
<span class="medgenPMjournal">Arthroscopy</span>
|
||
2024 May;40(5):1658-1669.
|
||
Epub 2023 Nov 11
|
||
doi: 10.1016/j.arthro.2023.10.047.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37952744" target="_blank">37952744</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37681763">The Impact of Podiatric Intervention on the Quality of Life and Pain in Children and Adolescents with Hypermobility.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maarj M,
|
||
Pacey V,
|
||
Tofts L,
|
||
Clapham M,
|
||
Coda A</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2023 Aug 22;20(17)
|
||
doi: 10.3390/ijerph20176623.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37681763" target="_blank">37681763</a><a href="/pmc/articles/PMC10487040" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33383536">Prevalence and dynamic characteristics of generalized joint hypermobility in college students.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhong G,
|
||
Zeng X,
|
||
Xie Y,
|
||
Lai J,
|
||
Wu J,
|
||
Xu H,
|
||
Lin C,
|
||
Li H,
|
||
Cui C,
|
||
Ma L,
|
||
Li L,
|
||
Huang W,
|
||
Zhang Y</span><br />
|
||
<span class="medgenPMjournal">Gait Posture</span>
|
||
2021 Feb;84:254-259.
|
||
Epub 2020 Dec 14
|
||
doi: 10.1016/j.gaitpost.2020.12.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33383536" target="_blank">33383536</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20601606">Generalized joint hypermobility and risk of lower limb joint injury during sport: a systematic review with meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pacey V,
|
||
Nicholson LL,
|
||
Adams RD,
|
||
Munn J,
|
||
Munns CF</span><br />
|
||
<span class="medgenPMjournal">Am J Sports Med</span>
|
||
2010 Jul;38(7):1487-97.
|
||
doi: 10.1177/0363546510364838.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20601606" target="_blank">20601606</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20joint%20hypermobility%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 (18)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39058764">Generalized Joint Hypermobility Is Associated with Type-A Hip Dysplasia in Patients Undergoing Periacetabular Osteotomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ping H,
|
||
Kong X,
|
||
Zhang H,
|
||
Luo D,
|
||
Jiang Q,
|
||
Chai W</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
2024 Oct 16;106(20):1895-1902.
|
||
Epub 2024 Jul 26
|
||
doi: 10.2106/JBJS.23.01030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39058764" target="_blank">39058764</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38475860">Echocardiographic abnormalities and joint hypermobility in Chinese patients with Osteogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mei Y,
|
||
Jiang Y,
|
||
Shen L,
|
||
Meng Z,
|
||
Zhang Z,
|
||
Zhang H</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Mar 12;19(1):116.
|
||
doi: 10.1186/s13023-024-03089-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38475860" target="_blank">38475860</a><a href="/pmc/articles/PMC10935918" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37160256">Increased Prevalence of Generalized Joint Hypermobility Observed in Patients With Recurrent Temporomandibular Joint Dislocation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen A,
|
||
Sela MC,
|
||
Ran LZ,
|
||
Rushinek H,
|
||
Talisman S,
|
||
Casap N</span><br />
|
||
<span class="medgenPMjournal">J Oral Maxillofac Surg</span>
|
||
2023 Aug;81(8):950-955.
|
||
Epub 2023 Apr 20
|
||
doi: 10.1016/j.joms.2023.04.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37160256" target="_blank">37160256</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35270355">Generalized Joint Hypermobility and Anxiety Are Serious Risk Factors for Dysfunctioning in Dance Students: A One-Year Follow-Up Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Die-de Vries J,
|
||
Verbunt J,
|
||
Ramaekers S,
|
||
Calders P,
|
||
Engelbert R</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2022 Feb 25;19(5)
|
||
doi: 10.3390/ijerph19052662.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35270355" target="_blank">35270355</a><a href="/pmc/articles/PMC8910411" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32487116">Prevalence of generalized joint hypermobility in children with anxiety disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Javadi Parvaneh V,
|
||
Modaress S,
|
||
Zahed G,
|
||
Rahmani K,
|
||
Shiari R</span><br />
|
||
<span class="medgenPMjournal">BMC Musculoskelet Disord</span>
|
||
2020 Jun 2;21(1):337.
|
||
doi: 10.1186/s12891-020-03377-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32487116" target="_blank">32487116</a><a href="/pmc/articles/PMC7265217" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20joint%20hypermobility%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 (35)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39058764">Generalized Joint Hypermobility Is Associated with Type-A Hip Dysplasia in Patients Undergoing Periacetabular Osteotomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ping H,
|
||
Kong X,
|
||
Zhang H,
|
||
Luo D,
|
||
Jiang Q,
|
||
Chai W</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
2024 Oct 16;106(20):1895-1902.
|
||
Epub 2024 Jul 26
|
||
doi: 10.2106/JBJS.23.01030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39058764" target="_blank">39058764</a></div>
|
||
|
||
<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/35945775">Joint hypermobility and preschool-age flexible flatfoot.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsai CC,
|
||
Chih YC,
|
||
Shih CL,
|
||
Chen SJ,
|
||
Shen PC,
|
||
Tien YC</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2022 Aug 5;101(31):e29608.
|
||
doi: 10.1097/MD.0000000000029608.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35945775" target="_blank">35945775</a><a href="/pmc/articles/PMC9351925" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31329366">An update on the new classification of Ehlers-Danlos syndrome and review of the causes of bleeding in this population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jesudas R,
|
||
Chaudhury A,
|
||
Laukaitis CM</span><br />
|
||
<span class="medgenPMjournal">Haemophilia</span>
|
||
2019 Jul;25(4):558-566.
|
||
Epub 2019 Jun 10
|
||
doi: 10.1111/hae.13800.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31329366" target="_blank">31329366</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=%22Generalized%20joint%20hypermobility%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 (133)</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/37952744">Hip Arthroscopy in Patients With Generalized Joint Hypermobility Yields Successful Outcomes: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arshad Z,
|
||
Marway P,
|
||
Shoman H,
|
||
Ubong S,
|
||
Hussain A,
|
||
Khanduja V</span><br />
|
||
<span class="medgenPMjournal">Arthroscopy</span>
|
||
2024 May;40(5):1658-1669.
|
||
Epub 2023 Nov 11
|
||
doi: 10.1016/j.arthro.2023.10.047.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37952744" target="_blank">37952744</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36462303">The concomitant diagnosis of fibromyalgia and connective tissue disorders: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alsiri N,
|
||
Alhadhoud M,
|
||
Alkatefi T,
|
||
Palmer S</span><br />
|
||
<span class="medgenPMjournal">Semin Arthritis Rheum</span>
|
||
2023 Feb;58:152127.
|
||
Epub 2022 Nov 17
|
||
doi: 10.1016/j.semarthrit.2022.152127.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36462303" target="_blank">36462303</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/28306223">Measurement properties of clinical assessment methods for classifying generalized joint hypermobility-A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Juul-Kristensen B,
|
||
Schmedling K,
|
||
Rombaut L,
|
||
Lund H,
|
||
Engelbert RH</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2017 Mar;175(1):116-147.
|
||
doi: 10.1002/ajmg.c.31540.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28306223" target="_blank">28306223</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20601606">Generalized joint hypermobility and risk of lower limb joint injury during sport: a systematic review with meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pacey V,
|
||
Nicholson LL,
|
||
Adams RD,
|
||
Munn J,
|
||
Munns CF</span><br />
|
||
<span class="medgenPMjournal">Am J Sports Med</span>
|
||
2010 Jul;38(7):1487-97.
|
||
doi: 10.1177/0363546510364838.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20601606" target="_blank">20601606</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20joint%20hypermobility%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 (6)</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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|
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|
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|
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|
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|
||
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|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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