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<meta name="keywords" content="C0265259, disease or syndrome, facio-genito-popliteal syndrome, popliteal pterygium syndrome, pps, 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="Most commonly, IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end. In rare instances, IRF6 pathogenic variants have also been reported in individuals with nonsyndromic orofacial cleft (18/3,811; 0.47%) and in individuals with spina bifida (2/192). Individuals with VWS show one or more of the following anomalies: Congenital, usually bilateral, paramedian lower-lip fistulae (pits) or sometimes small mounds with a sinus tract leading from a mucous gland of the lip. Cleft lip (CL). Cleft palate (CP). Note: Cleft lip with or without cleft palate (CL±P) is observed about twice as often as CP only. Submucous cleft palate (SMCP). The PPS phenotype includes the following: CL±P. Fistulae of the lower lip. Webbing of the skin extending from the ischial tuberosities to the heels. In males: bifid scrotum and cryptorchidism. In females: hypoplasia of the labia majora. Syndactyly of fingers and/or toes. Anomalies of the skin around the nails. A characteristic pyramidal fold of skin overlying the nail of the hallux (almost pathognomonic). In some nonclassic forms of PPS: filiform synechiae connecting the upper and lower jaws (syngnathia) or the upper and lower eyelids (ankyloblepharon). Other musculoskeletal anomalies may include spina bifida occulta, talipes equinovarus, digital reduction, bifid ribs, and short sternum. In VWS, PPS, IRF6-related neural tube defect, and IRF6-related orofacial cleft, growth and intelligence are typical." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=78543
|
||
ConceptID=C0265259
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Popliteal pterygium syndrome<span class="h1sub">(PPS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78543</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.">C0265259</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>PPS</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Popliteal pterygium syndrome (66783006)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/54101">RIPK4</a>, <a target="_blank" href="/gene/3664">IRF6</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0017435" target="_blank">MONDO:0017435</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=294963">ORPHA294963</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/NBK1407" target="_blank">IRF6-Related Disorders</a></div><div>Most commonly, IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end. In rare instances, IRF6 pathogenic variants have also been reported in individuals with nonsyndromic orofacial cleft (18/3,811; 0.47%) and in individuals with spina bifida (2/192). Individuals with VWS show one or more of the following anomalies: Congenital, usually bilateral, paramedian lower-lip fistulae (pits) or sometimes small mounds with a sinus tract leading from a mucous gland of the lip. Cleft lip (CL). Cleft palate (CP). Note: Cleft lip with or without cleft palate (CL±P) is observed about twice as often as CP only. Submucous cleft palate (SMCP). The PPS phenotype includes the following: CL±P. Fistulae of the lower lip. Webbing of the skin extending from the ischial tuberosities to the heels. In males: bifid scrotum and cryptorchidism. In females: hypoplasia of the labia majora. Syndactyly of fingers and/or toes. Anomalies of the skin around the nails. A characteristic pyramidal fold of skin overlying the nail of the hallux (almost pathognomonic). In some nonclassic forms of PPS: filiform synechiae connecting the upper and lower jaws (syngnathia) or the upper and lower eyelids (ankyloblepharon). Other musculoskeletal anomalies may include spina bifida occulta, talipes equinovarus, digital reduction, bifid ribs, and short sternum. In VWS, PPS, IRF6-related neural tube defect, and IRF6-related orofacial cleft, growth and intelligence are typical. [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/NBK1407#vws.Summary" target="NBK1407">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1407#vws.GeneReview_Scope" target="NBK1407">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1407#vws.Diagnosis" target="NBK1407">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1407#vws.Clinical_Characteristics" target="NBK1407">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1407#vws.Genetically_Related_Allelic_Disorder" target="NBK1407">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1407#vws.Differential_Diagnosis" target="NBK1407">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1407#vws.Management" target="NBK1407">Management</a> | <a class="medgenPMinfo" href="/books/NBK1407#vws.Genetic_Counseling" target="NBK1407">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1407#vws.Resources" target="NBK1407">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1407#vws.Molecular_Genetics" target="NBK1407">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1407#vws.Chapter_Notes" target="NBK1407">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1407#vws.References" target="NBK1407">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Brian C Schutte | Howard M Saal | Steven Goudy<i>, et. al.</i> <a href="/books/NBK1407" target="NBK1407" title="NCBI Bookshelf: IRF6-Related Disorders">view full author information</a></div></div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals may have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with popliteal pterygium syndrome have missing teeth.<br /><br />Individuals with popliteal pterygium syndrome may be born with webs of skin on the backs of the legs across the knee joint, which may impair mobility unless surgically removed. Affected individuals may also have webbing or fusion of the fingers or toes (syndactyly), characteristic triangular folds of skin over the nails of the large toes, or tissue connecting the upper and lower eyelids or the upper and lower jaws. They may have abnormal genitals, including unusually small external genital folds (hypoplasia of the labia majora) in females. Affected males may have undescended testes (cryptorchidism) or a scrotum divided into two lobes (bifid scrotum).<br /><br />People with popliteal pterygium syndrome who have cleft lip and/or palate, like other individuals with these facial conditions, may have an increased risk of delayed language development, learning disabilities, or other mild cognitive problems. The average IQ of individuals with popliteal pterygium syndrome is not significantly different from that of the general population. <a target="_blank" href="https://medlineplus.gov/genetics/condition/popliteal-pterygium-syndrome">https://medlineplus.gov/genetics/condition/popliteal-pterygium-syndrome</a></div></div>
|
||
</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>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0265259[DISCUI]&test_type=Clinical" ref="ncbi_uid=78543">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1407/" ref="ncbi_uid=78543">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78543" ref="ncbi_uid=78543">V</a></span></span><span class="TLline">Popliteal pterygium syndrome</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5848052[DISCUI]&test_type=Clinical" ref="ncbi_uid=1844082">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1844082" target="_blank" href="/omim/119500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1407/" ref="ncbi_uid=1844082">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1844082" ref="ncbi_uid=1844082">V</a></span></span><span class="TLline"><a href="/medgen/1844082" ref="tree=GTR&ncbi_uid=1844082&link_uid=1844082" title="View MedGen record for 'Autosomal dominant popliteal pterygium syndrome'">Autosomal dominant popliteal pterygium syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1849718[DISCUI]&test_type=Clinical" ref="ncbi_uid=337894">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=337894" target="_blank" href="/omim/263650">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=337894" ref="ncbi_uid=337894">V</a></span></span><span class="TLline"><a href="/medgen/337894" ref="tree=GTR&ncbi_uid=337894&link_uid=337894" title="View MedGen record for 'Bartsocas-Papas syndrome 1'">Bartsocas-Papas syndrome 1</a></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/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/311052" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder">Non-Neoplastic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/317955" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder by Special Category">Non-Neoplastic Disorder by Special Category</a></span><ul><li><span class="TLline"><a href="/medgen/354119" ref="tree=MeSH" title="MedGen record for Rare Non-Neoplastic Disorder">Rare Non-Neoplastic Disorder</a></span><ul><li><span class="matched_ds">Popliteal pterygium syndrome</span><ul><li><span class="TLline"><a href="/medgen/1844082" ref="tree=MeSH" title="MedGen record for Autosomal dominant popliteal pterygium syndrome">Autosomal dominant popliteal pterygium syndrome</a></span></li><li><span class="TLline"><a href="/medgen/337894" ref="tree=MeSH" title="MedGen record for Bartsocas-Papas syndrome 1">Bartsocas-Papas syndrome 1</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=20931&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Popliteal pterygium syndrome</span> in Orphanet.</div></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/19410531">Popliteal pterygium knee contracture: treatment with the Ilizarov technique.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Solignac N,
|
||
Vialle R,
|
||
Thévenin-Lemoine C,
|
||
Damsin JP</span><br />
|
||
<span class="medgenPMjournal">Orthop Traumatol Surg Res</span>
|
||
2009 May;95(3):196-201.
|
||
Epub 2009 May 1
|
||
doi: 10.1016/j.otsr.2009.01.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19410531" target="_blank">19410531</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10756431">On the nosology of van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fryns JP,
|
||
Devriendt K</span><br />
|
||
<span class="medgenPMjournal">Genet Couns</span>
|
||
2000;11(1):59-60.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10756431" target="_blank">10756431</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22popliteal%20pterygium%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</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/30807513">Management of severe congenital flexion deformity of the knee using Ilizarov method.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leonchuk SS,
|
||
Novikov KI,
|
||
Subramanyam KN,
|
||
Shikhaleva NG,
|
||
Pliev MK,
|
||
Mundargi AV</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop B</span>
|
||
2020 Jan;29(1):47-52.
|
||
doi: 10.1097/BPB.0000000000000601.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30807513" target="_blank">30807513</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29913133">IRF6 and AP2A Interaction Regulates Epidermal Development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kousa YA,
|
||
Fuller E,
|
||
Schutte BC</span><br />
|
||
<span class="medgenPMjournal">J Invest Dermatol</span>
|
||
2018 Dec;138(12):2578-2588.
|
||
Epub 2018 Jun 18
|
||
doi: 10.1016/j.jid.2018.05.030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29913133" target="_blank">29913133</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27933721">Shared molecular networks in orofacial and neural tube development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kousa YA,
|
||
Mansour TA,
|
||
Seada H,
|
||
Matoo S,
|
||
Schutte BC</span><br />
|
||
<span class="medgenPMjournal">Birth Defects Res</span>
|
||
2017 Jan 30;109(2):169-179.
|
||
doi: 10.1002/bdra.23598.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27933721" target="_blank">27933721</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26332872">Toward an orofacial gene regulatory network.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kousa YA,
|
||
Schutte BC</span><br />
|
||
<span class="medgenPMjournal">Dev Dyn</span>
|
||
2016 Mar;245(3):220-32.
|
||
Epub 2015 Sep 17
|
||
doi: 10.1002/dvdy.24341.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26332872" target="_blank">26332872</a><a href="/pmc/articles/PMC4755791" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4203060">Phenotypic variation in the popliteal pterygium syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bixler D,
|
||
Poland C,
|
||
Nance WE</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
1973;4(3):220-8.
|
||
doi: 10.1111/j.1399-0004.1973.tb01146.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4203060" target="_blank">4203060</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Popliteal%20pterygium%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (14)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32725677">Popliteal pterygium syndrome and surgical approach in a preterm neonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pelizzo G,
|
||
Milazzo M,
|
||
Colombo LF,
|
||
Di Mitri M,
|
||
Calcaterra V</span><br />
|
||
<span class="medgenPMjournal">Congenit Anom (Kyoto)</span>
|
||
2020 Nov;60(6):203-204.
|
||
Epub 2020 Aug 17
|
||
doi: 10.1111/cga.12387.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32725677" target="_blank">32725677</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28468208">Popliteal Pterygium Syndrome With Syngnathia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sisti A,
|
||
Freda N,
|
||
Giacomina A,
|
||
Gatti GL</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2017 May;28(3):e250-e251.
|
||
doi: 10.1097/SCS.0000000000003473.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28468208" target="_blank">28468208</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2352260">Popliteal pterygium syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Froster-Iskenius UG</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1990 May;27(5):320-6.
|
||
doi: 10.1136/jmg.27.5.320.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2352260" target="_blank">2352260</a><a href="/pmc/articles/PMC1017084" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3372139">Popliteal pterygium syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deskin RW,
|
||
Sawyer DG</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
1988 Feb;15(1):17-22.
|
||
doi: 10.1016/0165-5876(88)90046-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3372139" target="_blank">3372139</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4469996">P--popliteal pterygium syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pashayan H,
|
||
Bahle CU,
|
||
Pruzansky S</span><br />
|
||
<span class="medgenPMjournal">Birth Defects Orig Artic Ser</span>
|
||
1974;10(5):252-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4469996" target="_blank">4469996</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Popliteal%20pterygium%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (31)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32558391">Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alade AA,
|
||
Buxo-Martinez CJ,
|
||
Mossey PA,
|
||
Gowans LJJ,
|
||
Eshete MA,
|
||
Adeyemo WL,
|
||
Naicker T,
|
||
Awotoye WA,
|
||
Adeleke C,
|
||
Busch T,
|
||
Toraño AM,
|
||
Bello CA,
|
||
Soto M,
|
||
Soto M,
|
||
Ledesma R,
|
||
Marquez M,
|
||
Cordero JF,
|
||
Lopez-Del Valle LM,
|
||
Salcedo MI,
|
||
Debs N,
|
||
Li M,
|
||
Petrin A,
|
||
Olotu J,
|
||
Aldous C,
|
||
Olutayo J,
|
||
Ogunlewe MO,
|
||
Abate F,
|
||
Hailu T,
|
||
Muhammed I,
|
||
Gravem P,
|
||
Deribew M,
|
||
Gesses M,
|
||
Hassan M,
|
||
Pape J,
|
||
Adeniyan OA,
|
||
Obiri-Yeboah S,
|
||
Arthur FKN,
|
||
Oti AA,
|
||
Olatosi O,
|
||
Miller SE,
|
||
Donkor P,
|
||
Dunnwald MM,
|
||
Marazita ML,
|
||
Adeyemo AA,
|
||
Murray JC,
|
||
Butali A</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2020 Aug;8(8):e1355.
|
||
Epub 2020 Jun 17
|
||
doi: 10.1002/mgg3.1355.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32558391" target="_blank">32558391</a><a href="/pmc/articles/PMC7434609" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24683134">Secondary nerve lengthening to obtain full knee extension in popliteal pterygium syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boeckx W,
|
||
Misani M,
|
||
Vandermeeren L,
|
||
Franck D,
|
||
Zirak C,
|
||
Demey A</span><br />
|
||
<span class="medgenPMjournal">J Reconstr Microsurg</span>
|
||
2014 May;30(4):235-40.
|
||
Epub 2014 Mar 28
|
||
doi: 10.1055/s-0033-1354735.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24683134" target="_blank">24683134</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19410531">Popliteal pterygium knee contracture: treatment with the Ilizarov technique.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Solignac N,
|
||
Vialle R,
|
||
Thévenin-Lemoine C,
|
||
Damsin JP</span><br />
|
||
<span class="medgenPMjournal">Orthop Traumatol Surg Res</span>
|
||
2009 May;95(3):196-201.
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<span class="bold">PMID: </span><a href="/pubmed/19410531" target="_blank">19410531</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/19282774">Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">de Lima RL,
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Hoper SA,
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Ghassibe M,
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Cooper ME,
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Dixon MJ,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Popliteal%20pterygium%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div><h3 class="subhead">Prognosis</h3>
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<span class="bold">PMID: </span><a href="/pubmed/30807513" target="_blank">30807513</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/22875688">Management of knee deformities in children with arthrogryposis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lampasi M,
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Mercanti M,
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2008 Jun;57(6):309-22.
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<span class="bold">PMID: </span><a href="/pubmed/18617879" target="_blank">18617879</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/2352260">Popliteal pterygium syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Froster-Iskenius UG</span><br />
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|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Popliteal%20pterygium%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (14)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/33713555">A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/33713555" target="_blank">33713555</a></div>
|
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||
<div class="nl"><a target="_blank" href="/pubmed/32558391">Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Alade AA,
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Buxo-Martinez CJ,
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Mossey PA,
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Lopez-Del Valle LM,
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Salcedo MI,
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Debs N,
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Li M,
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Petrin A,
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Olotu J,
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Aldous C,
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Olutayo J,
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Ogunlewe MO,
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Abate F,
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Hailu T,
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Muhammed I,
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Gravem P,
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Deribew M,
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Gesses M,
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Hassan M,
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Pape J,
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Adeniyan OA,
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Obiri-Yeboah S,
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Arthur FKN,
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Oti AA,
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Olatosi O,
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Miller SE,
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Donkor P,
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Dunnwald MM,
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Marazita ML,
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Murray JC,
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<span class="medgenPMjournal">Mol Genet Genomic Med</span>
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||
2020 Aug;8(8):e1355.
|
||
Epub 2020 Jun 17
|
||
doi: 10.1002/mgg3.1355.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32558391" target="_blank">32558391</a><a href="/pmc/articles/PMC7434609" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28803895">Periderm: Life-cycle and function during orofacial and epidermal development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hammond NL,
|
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Dixon J,
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Dixon MJ</span><br />
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<span class="medgenPMjournal">Semin Cell Dev Biol</span>
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2019 Jul;91:75-83.
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Epub 2017 Aug 10
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doi: 10.1016/j.semcdb.2017.08.021.
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||
<span class="bold">PMID: </span><a href="/pubmed/28803895" target="_blank">28803895</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23394314">Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pegelow M,
|
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Koillinen H,
|
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Magnusson M,
|
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Fransson I,
|
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Unneberg P,
|
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Kere J,
|
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Karsten A,
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<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
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2014 Jan;51(1):49-55.
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Epub 2013 Feb 8
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|
||
<span class="bold">PMID: </span><a href="/pubmed/23394314" target="_blank">23394314</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20803643">Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matsuzawa N,
|
||
Kondo S,
|
||
Shimozato K,
|
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Nagao T,
|
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Nakano M,
|
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Tsuda M,
|
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Hirano A,
|
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Niikawa N,
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Yoshiura K</span><br />
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|
||
<span class="bold">PMID: </span><a href="/pubmed/20803643" target="_blank">20803643</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Popliteal%20pterygium%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (19)</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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|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
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||
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0265259%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (20)</a></li>
|
||
<li><a href="/gtr/tests?term=C0265259%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (24)</a></li>
|
||
<li><a href="/gtr/tests?term=C0265259%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (10)</a></li>
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||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0265259%5bDISCUI%5d" target="_blank">See all (27)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=294963" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Popliteal%20pterygium%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22popliteal%20pterygium%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Popliteal+pterygium+syndrome/5870" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/popliteal_pterygium_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Popliteal%20pterygium%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/popliteal-pterygium-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/21189/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/20301581" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
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<a href="/pubmed/clinical?term=Popliteal%20pterygium%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<li>
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||
<a href="/pubmed?term=Popliteal%20pterygium%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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