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<meta name="keywords" content="C4310681, c1s, disease or syndrome, edspd2, ehlers-danlos syndrome, periodontal type 2, ehlers-danlos syndrome, periodontal type, 2, 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="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." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=934648
|
||
ConceptID=C4310681
|
||
-->
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<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK572429/bin/eds-pd-Image002.gif" src-large="/books/NBK572429/bin/eds-pd-Image002.jpg" /></a><br /><a href="/books/NBK572429/figure/eds-pd.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK572429/bin/eds-pd-Image001.gif" src-large="/books/NBK572429/bin/eds-pd-Image001.jpg" /></a><br /><a href="/books/NBK572429/figure/eds-pd.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Ehlers-Danlos syndrome, periodontal type 2<span class="h1sub">(EDSPD2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934648</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.">C4310681</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>EDSPD2; EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="C1S - ID: 716 - NCBI Gene" href="/gene/716" class="medgenPMinfo">C1S</a> (12p13.31)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014954" target="_blank">MONDO:0014954</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617174" target="_blank">617174</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_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK572429" target="_blank">Periodontal Ehlers-Danlos Syndrome</a></div><div>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. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK572429#eds-pd.Summary" target="NBK572429">Summary</a> | <a class="medgenPMinfo" href="/books/NBK572429#eds-pd.Diagnosis" target="NBK572429">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK572429#eds-pd.Clinical_Characteristics" target="NBK572429">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK572429#eds-pd.Genetically_Related_Allelic_Disor" target="NBK572429">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK572429#eds-pd.Differential_Diagnosis" target="NBK572429">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK572429#eds-pd.Management" target="NBK572429">Management</a> | <a class="medgenPMinfo" href="/books/NBK572429#eds-pd.Genetic_Counseling" target="NBK572429">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK572429#eds-pd.Resources" target="NBK572429">Resources</a> | <a class="medgenPMinfo" href="/books/NBK572429#eds-pd.Molecular_Genetics" target="NBK572429">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK572429#eds-pd.Chapter_Notes" target="NBK572429">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK572429#eds-pd.References" target="NBK572429">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Ines Kapferer-Seebacher | Fleur S van Dijk | Johannes Zschocke <a href="/books/NBK572429" target="NBK572429" title="NCBI Bookshelf: Periodontal Ehlers-Danlos Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Periodontal Ehlers-Danlos syndrome type 2 (EDSPD2) is an autosomal dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings (Kapferer-Seebacher et al., 2016).
|
||
For a general phenotypic description and discussion of genetic heterogeneity of EDSPD, see EDSPD1 (130080). <a target="_blank" href="http://www.omim.org/entry/617174">http://www.omim.org/entry/617174</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><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.<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 />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 />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 />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 />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. <a target="_blank" href="https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome">https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_13917"><div><strong>Arthralgia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13917</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0003862</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Joint pain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/13917">Feature record</a> | <a href="/medgen?term=%22Arthralgia%22%5BClinical%20Features%5D%20OR%2013917%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10221"><div><strong>Nephroblastoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10221</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.">C0027708</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10221">Feature record</a> | <a href="/medgen?term=%22Nephroblastoma%22%5BClinical%20Features%5D%20OR%2010221%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2839"><div><strong>Colon cancer</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2839</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.">C0007102</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2839">Feature record</a> | <a href="/medgen?term=%22Colon%20cancer%22%5BClinical%20Features%5D%20OR%202839%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42218"><div><strong>Gingival bleeding</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42218</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.">C0017565</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hemorrhage affecting the gingiva.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42218">Feature record</a> | <a href="/medgen?term=%22Gingival%20bleeding%22%5BClinical%20Features%5D%20OR%2042218%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41614"><div><strong>Joint dislocation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41614</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.">C0012691</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Injury or Poisoning</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Displacement or malalignment of joints.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Joint%20dislocation%22%5BClinical%20Features%5D%20OR%2041614%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6817"><div><strong>Inguinal hernia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6817</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0019294</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Protrusion of the contents of the abdominal cavity through the inguinal canal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6817">Feature record</a> | <a href="/medgen?term=%22Inguinal%20hernia%22%5BClinical%20Features%5D%20OR%206817%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9232"><div><strong>Umbilical hernia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9232</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0019322</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9232">Feature record</a> | <a href="/medgen?term=%22Umbilical%20hernia%22%5BClinical%20Features%5D%20OR%209232%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336793"><div><strong>Joint hypermobility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336793</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1844820</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336793">Feature record</a> | <a href="/medgen?term=%22Joint%20hypermobility%22%5BClinical%20Features%5D%20OR%20336793%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867415"><div><strong>Atypical scarring of skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867415</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.">C4021786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atypically scarred skin .</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867415">Feature record</a> | <a href="/medgen?term=%22Atypical%20scarring%20of%20skin%22%5BClinical%20Features%5D%20OR%20867415%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45815"><div><strong>Periodontitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45815</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.">C0031099</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of the periodontium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45815">Feature record</a> | <a href="/medgen?term=%22Periodontitis%22%5BClinical%20Features%5D%20OR%2045815%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6607"><div><strong>Gingival recession</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6607</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.">C0017572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6607">Feature record</a> | <a href="/medgen?term=%22Gingival%20recession%22%5BClinical%20Features%5D%20OR%206607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_939933"><div><strong>Gingival fragility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>939933</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.">C4315966</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gums that are easily damaged.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/939933">Feature record</a> | <a href="/medgen?term=%22Gingival%20fragility%22%5BClinical%20Features%5D%20OR%20939933%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66023"><div><strong>Hyperextensible skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66023</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0241074</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which the skin can be stretched beyond normal, and then returns to its initial position.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66023">Feature record</a> | <a href="/medgen?term=%22Hyperextensible%20skin%22%5BClinical%20Features%5D%20OR%2066023%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66826"><div><strong>Fragile skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66826</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0241181</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Skin that splits easily with minimal injury.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66826">Feature record</a> | <a href="/medgen?term=%22Fragile%20skin%22%5BClinical%20Features%5D%20OR%2066826%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140849"><div><strong>Bruising susceptibility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140849</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0423798</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140849">Feature record</a> | <a href="/medgen?term=%22Bruising%20susceptibility%22%5BClinical%20Features%5D%20OR%20140849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324870"><div><strong>Prominent superficial veins</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324870</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.">C1837785</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticeable than normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324870">Feature record</a> | <a href="/medgen?term=%22Prominent%20superficial%20veins%22%5BClinical%20Features%5D%20OR%20324870%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_939948"><div><strong>Pretibial hyperpigmentation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>939948</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.">C4315981</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Darkening of the area of skin that overlies the shin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/939948">Feature record</a> | <a href="/medgen?term=%22Pretibial%20hyperpigmentation%22%5BClinical%20Features%5D%20OR%20939948%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42218" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gingival bleeding</a></span></li></ul></li><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_939933" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gingival fragility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gingival recession</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2839" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Colon cancer</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45815" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Periodontitis</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bruising susceptibility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66826" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fragile skin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66023" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperextensible skin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_939948" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pretibial hyperpigmentation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324870" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prominent superficial veins</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867415" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atypical scarring of skin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6817" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inguinal hernia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41614" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint dislocation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint hypermobility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Umbilical hernia</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_13917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthralgia</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10221" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephroblastoma</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268347[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=82791">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82791" target="_blank" href="/omim/130080">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/82791" ref="tree=GTR&ncbi_uid=82791&link_uid=82791" title="View MedGen record for 'Ehlers-Danlos syndrome, periodontitis type'">Ehlers-Danlos syndrome, periodontitis 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=C4551499[DISCUI]&test_type=Clinical" ref="ncbi_uid=1642148">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1642148" target="_blank" href="/omim/130080">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK572429/" ref="ncbi_uid=1642148">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1642148" ref="ncbi_uid=1642148">V</a></span></span><span class="TLline"><a href="/medgen/1642148" ref="tree=GTR&ncbi_uid=1642148&link_uid=1642148" title="View MedGen record for 'Ehlers-Danlos syndrome, periodontal type 1'">Ehlers-Danlos syndrome, periodontal type 1</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4310681[DISCUI]&test_type=Clinical" ref="ncbi_uid=934648">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934648" target="_blank" href="/omim/120580">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK572429/" ref="ncbi_uid=934648">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=934648" ref="ncbi_uid=934648">V</a></span></span><span class="TLline">Ehlers-Danlos syndrome, periodontal type 2</span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/272508" ref="tree=MeSH" title="MedGen record for Connective and Soft Tissue Disorder">Connective and Soft Tissue Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/1098" ref="tree=MeSH" title="MedGen record for Connective tissue disorder">Connective tissue disorder</a></span><ul><li><span class="TLline"><a href="/medgen/473110" ref="tree=MeSH" title="MedGen record for Hereditary disorder of connective tissue">Hereditary disorder of connective tissue</a></span><ul><li><span class="TLline"><a href="/medgen/396965" ref="tree=MeSH" title="MedGen record for COL1A1 Associated Connective Tissue Disorder">COL1A1 Associated Connective Tissue Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/41720" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome">Ehlers-Danlos syndrome</a></span><ul><li><span class="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="matched_ds">Ehlers-Danlos syndrome, periodontal type 2</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></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/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 class="nl"><a target="_blank" href="/pubmed/15633333">Use of anti-inflammatory medications in managing atypical gingivitis associated with hypermobile Ehlers-Danlos syndrome: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khocht A,
|
||
Calem B,
|
||
Deasy M</span><br />
|
||
<span class="medgenPMjournal">J Periodontol</span>
|
||
2004 Nov;75(11):1547-52.
|
||
doi: 10.1902/jop.2004.75.11.1547.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15633333" target="_blank">15633333</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ehlers-Danlos%20syndrome%2C%20periodontal%20type%202%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33890303">Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El Chehadeh S,
|
||
Legrand A,
|
||
Stoetzel C,
|
||
Geoffroy V,
|
||
Billon C,
|
||
Adham S,
|
||
Jeunemaître X,
|
||
Jaussaud R,
|
||
Muller J,
|
||
Schaefer E,
|
||
Benistan K,
|
||
Gaertner S,
|
||
Bloch-Zupan A,
|
||
Courval A,
|
||
Manière MC,
|
||
Petit C,
|
||
Bursztejn AC,
|
||
Bal L,
|
||
Reyre A,
|
||
Chammas A,
|
||
Busa T,
|
||
Dollfus H,
|
||
Lipsker D</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2021 Aug;100(2):206-212.
|
||
Epub 2021 Apr 29
|
||
doi: 10.1111/cge.13972.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33890303" target="_blank">33890303</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33498938">Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers-Danlos Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stock F,
|
||
Hanisch M,
|
||
Lechner S,
|
||
Biskup S,
|
||
Bohring A,
|
||
Zschocke J,
|
||
Kapferer-Seebacher I</span><br />
|
||
<span class="medgenPMjournal">Biomolecules</span>
|
||
2021 Jan 24;11(2)
|
||
doi: 10.3390/biom11020149.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33498938" target="_blank">33498938</a><a href="/pmc/articles/PMC7912441" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22739343">Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reinstein E,
|
||
DeLozier CD,
|
||
Simon Z,
|
||
Bannykh S,
|
||
Rimoin DL,
|
||
Curry CJ</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2013 Feb;21(2):233-6.
|
||
Epub 2012 Jun 27
|
||
doi: 10.1038/ejhg.2012.132.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22739343" target="_blank">22739343</a><a href="/pmc/articles/PMC3548259" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11218502">Ehlers-Danlos type VIII. Review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karrer S,
|
||
Landthaler M,
|
||
Schmalz G</span><br />
|
||
<span class="medgenPMjournal">Clin Oral Investig</span>
|
||
2000 Jun;4(2):66-9.
|
||
doi: 10.1007/s007840050117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11218502" target="_blank">11218502</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7606321">Ehlers-Danlos syndrome, type VIII presenting with periodontitis and prolonged bleeding time.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cunniff C,
|
||
Williamson-Kruse L</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
1995 Apr;4(2):145-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7606321" target="_blank">7606321</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ehlers-Danlos%20syndrome%2C%20periodontal%20type%202%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Therapy</h3>
|
||
<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 class="nl"><a target="_blank" href="/pubmed/15633333">Use of anti-inflammatory medications in managing atypical gingivitis associated with hypermobile Ehlers-Danlos syndrome: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khocht A,
|
||
Calem B,
|
||
Deasy M</span><br />
|
||
<span class="medgenPMjournal">J Periodontol</span>
|
||
2004 Nov;75(11):1547-52.
|
||
doi: 10.1902/jop.2004.75.11.1547.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15633333" target="_blank">15633333</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11218502">Ehlers-Danlos type VIII. Review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karrer S,
|
||
Landthaler M,
|
||
Schmalz G</span><br />
|
||
<span class="medgenPMjournal">Clin Oral Investig</span>
|
||
2000 Jun;4(2):66-9.
|
||
doi: 10.1007/s007840050117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11218502" target="_blank">11218502</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7606321">Ehlers-Danlos syndrome, type VIII presenting with periodontitis and prolonged bleeding time.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cunniff C,
|
||
Williamson-Kruse L</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
1995 Apr;4(2):145-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7606321" target="_blank">7606321</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ehlers-Danlos%20syndrome%2C%20periodontal%20type%202%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/15633333">Use of anti-inflammatory medications in managing atypical gingivitis associated with hypermobile Ehlers-Danlos syndrome: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khocht A,
|
||
Calem B,
|
||
Deasy M</span><br />
|
||
<span class="medgenPMjournal">J Periodontol</span>
|
||
2004 Nov;75(11):1547-52.
|
||
doi: 10.1902/jop.2004.75.11.1547.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15633333" target="_blank">15633333</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11218502">Ehlers-Danlos type VIII. Review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karrer S,
|
||
Landthaler M,
|
||
Schmalz G</span><br />
|
||
<span class="medgenPMjournal">Clin Oral Investig</span>
|
||
2000 Jun;4(2):66-9.
|
||
doi: 10.1007/s007840050117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11218502" target="_blank">11218502</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ehlers-Danlos%20syndrome%2C%20periodontal%20type%202%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33890303">Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El Chehadeh S,
|
||
Legrand A,
|
||
Stoetzel C,
|
||
Geoffroy V,
|
||
Billon C,
|
||
Adham S,
|
||
Jeunemaître X,
|
||
Jaussaud R,
|
||
Muller J,
|
||
Schaefer E,
|
||
Benistan K,
|
||
Gaertner S,
|
||
Bloch-Zupan A,
|
||
Courval A,
|
||
Manière MC,
|
||
Petit C,
|
||
Bursztejn AC,
|
||
Bal L,
|
||
Reyre A,
|
||
Chammas A,
|
||
Busa T,
|
||
Dollfus H,
|
||
Lipsker D</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2021 Aug;100(2):206-212.
|
||
Epub 2021 Apr 29
|
||
doi: 10.1111/cge.13972.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33890303" target="_blank">33890303</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22739343">Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reinstein E,
|
||
DeLozier CD,
|
||
Simon Z,
|
||
Bannykh S,
|
||
Rimoin DL,
|
||
Curry CJ</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2013 Feb;21(2):233-6.
|
||
Epub 2012 Jun 27
|
||
doi: 10.1038/ejhg.2012.132.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22739343" target="_blank">22739343</a><a href="/pmc/articles/PMC3548259" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11218502">Ehlers-Danlos type VIII. Review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karrer S,
|
||
Landthaler M,
|
||
Schmalz G</span><br />
|
||
<span class="medgenPMjournal">Clin Oral Investig</span>
|
||
2000 Jun;4(2):66-9.
|
||
doi: 10.1007/s007840050117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11218502" target="_blank">11218502</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ehlers-Danlos%20syndrome%2C%20periodontal%20type%202%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4310681%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (25)</a></li>
|
||
<li><a href="/gtr/tests?term=C4310681%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (33)</a></li>
|
||
<li><a href="/gtr/tests?term=C4310681%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (16)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4310681%5bDISCUI%5d" target="_blank">See all (37)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=617174" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Ehlers-Danlos%20syndrome,%20periodontal%20type%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=120580" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=716[geneid]" target="_blank">View C1S variations in ClinVar</a></li><li><a href="/nuccore/225637526" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=617174" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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