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<meta name="keywords" content="C5193130, disease or syndrome, mras, noonan syndrome 11, ns11, 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="Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1681177
|
||
ConceptID=C5193130
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Noonan syndrome 11<span class="h1sub">(NS11)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1681177</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C5193130</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>NOONAN SYNDROME 11; NS11</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="MRAS - ID: 22808 - NCBI Gene" href="/gene/22808" class="medgenPMinfo">MRAS</a> (3q22.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0032786" target="_blank">MONDO:0032786</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/618499" target="_blank">618499</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
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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/NBK1124" target="_blank">Noonan Syndrome</a></div><div>Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population. [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/NBK1124#noonan.Summary" target="NBK1124">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1124#noonan.Diagnosis" target="NBK1124">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1124#noonan.Clinical_Characteristics" target="NBK1124">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1124#noonan.Genetically_Related_Allelic_Disor" target="NBK1124">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1124#noonan.Differential_Diagnosis" target="NBK1124">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1124#noonan.Management" target="NBK1124">Management</a> | <a class="medgenPMinfo" href="/books/NBK1124#noonan.Genetic_Counseling" target="NBK1124">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1124#noonan.Resources" target="NBK1124">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1124#noonan.Molecular_Genetics" target="NBK1124">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1124#noonan.Chapter_Notes" target="NBK1124">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1124#noonan.References" target="NBK1124">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Amy E Roberts <a href="/books/NBK1124" target="NBK1124" title="NCBI Bookshelf: Noonan Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Noonan syndrome-11 (NS11) is characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and a consistent cardiac phenotype of cardiac hypertrophy (Higgins et al., 2017).
|
||
For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). <a target="_blank" href="http://www.omim.org/entry/618499">http://www.omim.org/entry/618499</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_2881"><div><strong>Hypertrophic cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2881</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.">C0007194</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2881">Feature record</a> | <a href="/medgen?term=%22Hypertrophic%20cardiomyopathy%22%5BClinical%20Features%5D%20OR%202881%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6753"><div><strong>Atrial septal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6753</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.">C0018817</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6753">Feature record</a> | <a href="/medgen?term=%22Atrial%20septal%20defect%22%5BClinical%20Features%5D%20OR%206753%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_408291"><div><strong>Pulmonic stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>408291</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.">C1956257</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/408291">Feature record</a> | <a href="/medgen?term=%22Pulmonic%20stenosis%22%5BClinical%20Features%5D%20OR%20408291%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</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.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_436211"><div><strong>Feeding difficulties in infancy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436211</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.">C2674608</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/436211">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%20in%20infancy%22%5BClinical%20Features%5D%20OR%20436211%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65980"><div><strong>Low-set ears</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65980</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.">C0239234</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65980">Feature record</a> | <a href="/medgen?term=%22Low-set%20ears%22%5BClinical%20Features%5D%20OR%2065980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96566"><div><strong>Posteriorly rotated ears</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96566</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.">C0431478</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96566">Feature record</a> | <a href="/medgen?term=%22Posteriorly%20rotated%20ears%22%5BClinical%20Features%5D%20OR%2096566%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96788"><div><strong>Bilateral sensorineural hearing impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96788</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.">C0452138</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bilateral form of sensorineural hearing impairment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96788">Feature record</a> | <a href="/medgen?term=%22Bilateral%20sensorineural%20hearing%20impairment%22%5BClinical%20Features%5D%20OR%2096788%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66034"><div><strong>Delayed ability to walk</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66034</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.">C0241726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66034">Feature record</a> | <a href="/medgen?term=%22Delayed%20ability%20to%20walk%22%5BClinical%20Features%5D%20OR%2066034%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</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.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</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.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_338607"><div><strong>Relative macrocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338607</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.">C1849075</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338607">Feature record</a> | <a href="/medgen?term=%22Relative%20macrocephaly%22%5BClinical%20Features%5D%20OR%20338607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_781174"><div><strong>Pectus excavatum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>781174</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.">C2051831</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/781174">Feature record</a> | <a href="/medgen?term=%22Pectus%20excavatum%22%5BClinical%20Features%5D%20OR%20781174%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65991"><div><strong>High forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65991</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.">C0239676</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased height of the forehead.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65991">Feature record</a> | <a href="/medgen?term=%22High%20forehead%22%5BClinical%20Features%5D%20OR%2065991%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66013"><div><strong>Bulbous nose</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66013</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.">C0240543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased volume and globular shape of the anteroinferior aspect of the nose.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66013">Feature record</a> | <a href="/medgen?term=%22Bulbous%20nose%22%5BClinical%20Features%5D%20OR%2066013%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98391"><div><strong>Downslanted palpebral fissures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98391</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.">C0423110</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The palpebral fissure inclination is more than two standard deviations below the mean.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98391">Feature record</a> | <a href="/medgen?term=%22Downslanted%20palpebral%20fissures%22%5BClinical%20Features%5D%20OR%2098391%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324419"><div><strong>Long face</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324419</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.">C1836047</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324419">Feature record</a> | <a href="/medgen?term=%22Long%20face%22%5BClinical%20Features%5D%20OR%20324419%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373112"><div><strong>Depressed nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373112</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.">C1836542</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Posterior positioning of the nasal root in relation to the overall facial profile for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373112">Feature record</a> | <a href="/medgen?term=%22Depressed%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20373112%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332232"><div><strong>Thick vermilion border</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332232</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.">C1836543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased width of the skin of vermilion border region of upper lip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332232">Feature record</a> | <a href="/medgen?term=%22Thick%20vermilion%20border%22%5BClinical%20Features%5D%20OR%20332232%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336193"><div><strong>Pointed chin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336193</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.">C1844505</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A marked tapering of the lower face to the chin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336193">Feature record</a> | <a href="/medgen?term=%22Pointed%20chin%22%5BClinical%20Features%5D%20OR%20336193%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341602"><div><strong>Palmoplantar cutis laxa</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341602</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.">C1856714</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loose, wrinkled skin of hands and feet.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341602">Feature record</a> | <a href="/medgen?term=%22Palmoplantar%20cutis%20laxa%22%5BClinical%20Features%5D%20OR%20341602%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2287"><div><strong>Ptosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2287</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.">C0005745</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2287">Feature record</a> | <a href="/medgen?term=%22Ptosis%22%5BClinical%20Features%5D%20OR%202287%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9373"><div><strong>Hypertelorism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9373</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.">C0020534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9373">Feature record</a> | <a href="/medgen?term=%22Hypertelorism%22%5BClinical%20Features%5D%20OR%209373%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bulbous nose</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depressed nasal bridge</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98391" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Downslanted palpebral fissures</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65991" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High forehead</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324419" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long face</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336193" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pointed chin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thick vermilion border</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial septal defect</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic cardiomyopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_408291" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonic stenosis</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_436211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties in infancy</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2287" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ptosis</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_341602" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Palmoplantar cutis laxa</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_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_781174" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pectus excavatum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_338607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Relative macrocephaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed ability to walk</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96788" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral sensorineural hearing impairment</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low-set ears</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96566" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Posteriorly rotated ears</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5193130[DISCUI]&test_type=Clinical" ref="ncbi_uid=1681177">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1681177" target="_blank" href="/omim/608435">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=1681177">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1681177" ref="ncbi_uid=1681177">V</a></span></span><span class="TLline">Noonan syndrome 11</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/2848" ref="tree=MeSH" title="MedGen record for Disorder of cardiovascular system">Disorder of cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/116727" ref="tree=MeSH" title="MedGen record for Abnormality of the cardiovascular system">Abnormality of the cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/892473" ref="tree=MeSH" title="MedGen record for Abnormal cardiovascular system morphology">Abnormal cardiovascular system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/6748" ref="tree=MeSH" title="MedGen record for Abnormal heart morphology">Abnormal heart morphology</a></span><ul><li><span class="TLline"><a href="/medgen/18073" ref="tree=MeSH" title="MedGen record for Noonan syndrome">Noonan syndrome</a></span><ul><li><span class="matched_ds">Noonan syndrome 11</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></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/37525886">Noonan syndrome: rhGH treatment and PTPN11 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu X,
|
||
Wu J,
|
||
Yuan Y,
|
||
Yang L,
|
||
Yu L</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2023 Nov;11(11):e2266.
|
||
Epub 2023 Aug 1
|
||
doi: 10.1002/mgg3.2266.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37525886" target="_blank">37525886</a><a href="/pmc/articles/PMC10655517" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32022400">Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Linglart L,
|
||
Gelb BD</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2020 Mar;184(1):73-80.
|
||
Epub 2020 Feb 5
|
||
doi: 10.1002/ajmg.c.31765.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32022400" target="_blank">32022400</a><a href="/pmc/articles/PMC7682536" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25966637">Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santoro C,
|
||
Maietta A,
|
||
Giugliano T,
|
||
Melis D,
|
||
Perrotta S,
|
||
Nigro V,
|
||
Piluso G</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2015 Nov;23(11):1460-1.
|
||
Epub 2015 May 13
|
||
doi: 10.1038/ejhg.2015.93.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25966637" target="_blank">25966637</a><a href="/pmc/articles/PMC4613473" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(noonan%20syndrome%2011)%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 (39)</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/35979676">Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Swarts JW,
|
||
Kleimeier LER,
|
||
Leenders EKSM,
|
||
Rinne T,
|
||
Klein WM,
|
||
Draaisma JMT</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Nov;188(11):3242-3261.
|
||
Epub 2022 Aug 18
|
||
doi: 10.1002/ajmg.a.62955.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35979676" target="_blank">35979676</a><a href="/pmc/articles/PMC9804719" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33264544">Pembrolizumab in Microsatellite-Instability-High Advanced Colorectal Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">André T,
|
||
Shiu KK,
|
||
Kim TW,
|
||
Jensen BV,
|
||
Jensen LH,
|
||
Punt C,
|
||
Smith D,
|
||
Garcia-Carbonero R,
|
||
Benavides M,
|
||
Gibbs P,
|
||
de la Fouchardiere C,
|
||
Rivera F,
|
||
Elez E,
|
||
Bendell J,
|
||
Le DT,
|
||
Yoshino T,
|
||
Van Cutsem E,
|
||
Yang P,
|
||
Farooqui MZH,
|
||
Marinello P,
|
||
Diaz LA Jr;
|
||
KEYNOTE-177 Investigators</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Dec 3;383(23):2207-2218.
|
||
doi: 10.1056/NEJMoa2017699.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33264544" target="_blank">33264544</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32164556">Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Athota JP,
|
||
Bhat M,
|
||
Nampoothiri S,
|
||
Gowrishankar K,
|
||
Narayanachar SG,
|
||
Puttamallesh V,
|
||
Farooque MO,
|
||
Shetty S</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2020 Mar 12;21(1):50.
|
||
doi: 10.1186/s12881-020-0986-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32164556" target="_blank">32164556</a><a href="/pmc/articles/PMC7068896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25795793">Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamamoto GL,
|
||
Aguena M,
|
||
Gos M,
|
||
Hung C,
|
||
Pilch J,
|
||
Fahiminiya S,
|
||
Abramowicz A,
|
||
Cristian I,
|
||
Buscarilli M,
|
||
Naslavsky MS,
|
||
Malaquias AC,
|
||
Zatz M,
|
||
Bodamer O,
|
||
Majewski J,
|
||
Jorge AA,
|
||
Pereira AC,
|
||
Kim CA,
|
||
Passos-Bueno MR,
|
||
Bertola DR</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2015 Jun;52(6):413-21.
|
||
Epub 2015 Mar 20
|
||
doi: 10.1136/jmedgenet-2015-103018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25795793" target="_blank">25795793</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21771153">Noonan syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turner AM</span><br />
|
||
<span class="medgenPMjournal">J Paediatr Child Health</span>
|
||
2014 Oct;50(10):E14-20.
|
||
Epub 2011 Jul 19
|
||
doi: 10.1111/j.1440-1754.2010.01970.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21771153" target="_blank">21771153</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Noonan%20syndrome%2011%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 (239)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35699014">Plastic bronchitis and Noonan syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">López-Alba A,
|
||
Aldao-Argüelles I,
|
||
de Granda-Orive JI</span><br />
|
||
<span class="medgenPMjournal">Arch Bronconeumol</span>
|
||
2021 Nov;57(11):705.
|
||
Epub 2021 Sep 23
|
||
doi: 10.1016/j.arbr.2021.09.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35699014" target="_blank">35699014</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32022400">Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Linglart L,
|
||
Gelb BD</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2020 Mar;184(1):73-80.
|
||
Epub 2020 Feb 5
|
||
doi: 10.1002/ajmg.c.31765.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32022400" target="_blank">32022400</a><a href="/pmc/articles/PMC7682536" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25795793">Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamamoto GL,
|
||
Aguena M,
|
||
Gos M,
|
||
Hung C,
|
||
Pilch J,
|
||
Fahiminiya S,
|
||
Abramowicz A,
|
||
Cristian I,
|
||
Buscarilli M,
|
||
Naslavsky MS,
|
||
Malaquias AC,
|
||
Zatz M,
|
||
Bodamer O,
|
||
Majewski J,
|
||
Jorge AA,
|
||
Pereira AC,
|
||
Kim CA,
|
||
Passos-Bueno MR,
|
||
Bertola DR</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2015 Jun;52(6):413-21.
|
||
Epub 2015 Mar 20
|
||
doi: 10.1136/jmedgenet-2015-103018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25795793" target="_blank">25795793</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21771153">Noonan syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turner AM</span><br />
|
||
<span class="medgenPMjournal">J Paediatr Child Health</span>
|
||
2014 Oct;50(10):E14-20.
|
||
Epub 2011 Jul 19
|
||
doi: 10.1111/j.1440-1754.2010.01970.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21771153" target="_blank">21771153</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21396583">Noonan syndrome and clinically related disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tartaglia M,
|
||
Gelb BD,
|
||
Zenker M</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2011 Feb;25(1):161-79.
|
||
doi: 10.1016/j.beem.2010.09.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21396583" target="_blank">21396583</a><a href="/pmc/articles/PMC3058199" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Noonan%20syndrome%2011%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 (294)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37525886">Noonan syndrome: rhGH treatment and PTPN11 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu X,
|
||
Wu J,
|
||
Yuan Y,
|
||
Yang L,
|
||
Yu L</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2023 Nov;11(11):e2266.
|
||
Epub 2023 Aug 1
|
||
doi: 10.1002/mgg3.2266.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37525886" target="_blank">37525886</a><a href="/pmc/articles/PMC10655517" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33264544">Pembrolizumab in Microsatellite-Instability-High Advanced Colorectal Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">André T,
|
||
Shiu KK,
|
||
Kim TW,
|
||
Jensen BV,
|
||
Jensen LH,
|
||
Punt C,
|
||
Smith D,
|
||
Garcia-Carbonero R,
|
||
Benavides M,
|
||
Gibbs P,
|
||
de la Fouchardiere C,
|
||
Rivera F,
|
||
Elez E,
|
||
Bendell J,
|
||
Le DT,
|
||
Yoshino T,
|
||
Van Cutsem E,
|
||
Yang P,
|
||
Farooqui MZH,
|
||
Marinello P,
|
||
Diaz LA Jr;
|
||
KEYNOTE-177 Investigators</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Dec 3;383(23):2207-2218.
|
||
doi: 10.1056/NEJMoa2017699.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33264544" target="_blank">33264544</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32061959">Therapeutic potential of targeting SHP2 in human developmental disorders and cancers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shen D,
|
||
Chen W,
|
||
Zhu J,
|
||
Wu G,
|
||
Shen R,
|
||
Xi M,
|
||
Sun H</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Chem</span>
|
||
2020 Mar 15;190:112117.
|
||
Epub 2020 Feb 6
|
||
doi: 10.1016/j.ejmech.2020.112117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32061959" target="_blank">32061959</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27362227">Allosteric inhibition of SHP2 phosphatase inhibits cancers driven by receptor tyrosine kinases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen YN,
|
||
LaMarche MJ,
|
||
Chan HM,
|
||
Fekkes P,
|
||
Garcia-Fortanet J,
|
||
Acker MG,
|
||
Antonakos B,
|
||
Chen CH,
|
||
Chen Z,
|
||
Cooke VG,
|
||
Dobson JR,
|
||
Deng Z,
|
||
Fei F,
|
||
Firestone B,
|
||
Fodor M,
|
||
Fridrich C,
|
||
Gao H,
|
||
Grunenfelder D,
|
||
Hao HX,
|
||
Jacob J,
|
||
Ho S,
|
||
Hsiao K,
|
||
Kang ZB,
|
||
Karki R,
|
||
Kato M,
|
||
Larrow J,
|
||
La Bonte LR,
|
||
Lenoir F,
|
||
Liu G,
|
||
Liu S,
|
||
Majumdar D,
|
||
Meyer MJ,
|
||
Palermo M,
|
||
Perez L,
|
||
Pu M,
|
||
Price E,
|
||
Quinn C,
|
||
Shakya S,
|
||
Shultz MD,
|
||
Slisz J,
|
||
Venkatesan K,
|
||
Wang P,
|
||
Warmuth M,
|
||
Williams S,
|
||
Yang G,
|
||
Yuan J,
|
||
Zhang JH,
|
||
Zhu P,
|
||
Ramsey T,
|
||
Keen NJ,
|
||
Sellers WR,
|
||
Stams T,
|
||
Fortin PD</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2016 Jul 7;535(7610):148-52.
|
||
Epub 2016 Jun 29
|
||
doi: 10.1038/nature18621.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27362227" target="_blank">27362227</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20029236">Growth hormone therapy in Noonan syndrome: growth response and characteristics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Westphal O</span><br />
|
||
<span class="medgenPMjournal">Horm Res</span>
|
||
2009 Dec;72 Suppl 2:41-5.
|
||
Epub 2009 Dec 22
|
||
doi: 10.1159/000243778.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20029236" target="_blank">20029236</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Noonan%20syndrome%2011%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 (74)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32022400">Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Linglart L,
|
||
Gelb BD</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2020 Mar;184(1):73-80.
|
||
Epub 2020 Feb 5
|
||
doi: 10.1002/ajmg.c.31765.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32022400" target="_blank">32022400</a><a href="/pmc/articles/PMC7682536" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30368668">Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Umeki I,
|
||
Niihori T,
|
||
Abe T,
|
||
Kanno SI,
|
||
Okamoto N,
|
||
Mizuno S,
|
||
Kurosawa K,
|
||
Nagasaki K,
|
||
Yoshida M,
|
||
Ohashi H,
|
||
Inoue SI,
|
||
Matsubara Y,
|
||
Fujiwara I,
|
||
Kure S,
|
||
Aoki Y</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2019 Jan;138(1):21-35.
|
||
Epub 2018 Oct 27
|
||
doi: 10.1007/s00439-018-1951-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30368668" target="_blank">30368668</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21771153">Noonan syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turner AM</span><br />
|
||
<span class="medgenPMjournal">J Paediatr Child Health</span>
|
||
2014 Oct;50(10):E14-20.
|
||
Epub 2011 Jul 19
|
||
doi: 10.1111/j.1440-1754.2010.01970.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21771153" target="_blank">21771153</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18505544">Leopard syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarkozy A,
|
||
Digilio MC,
|
||
Dallapiccola B</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2008 May 27;3:13.
|
||
doi: 10.1186/1750-1172-3-13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18505544" target="_blank">18505544</a><a href="/pmc/articles/PMC2467408" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17222357">Noonan syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Burgt I</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2007 Jan 14;2:4.
|
||
doi: 10.1186/1750-1172-2-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17222357" target="_blank">17222357</a><a href="/pmc/articles/PMC1781428" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Noonan%20syndrome%2011%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 (123)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38226429">Language profiles in Noonan Syndrome - A multiple case study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Selås M</span><br />
|
||
<span class="medgenPMjournal">Clin Linguist Phon</span>
|
||
2024 Nov;38(11):1025-1039.
|
||
Epub 2024 Jan 16
|
||
doi: 10.1080/02699206.2023.2298976.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38226429" target="_blank">38226429</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33264544">Pembrolizumab in Microsatellite-Instability-High Advanced Colorectal Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">André T,
|
||
Shiu KK,
|
||
Kim TW,
|
||
Jensen BV,
|
||
Jensen LH,
|
||
Punt C,
|
||
Smith D,
|
||
Garcia-Carbonero R,
|
||
Benavides M,
|
||
Gibbs P,
|
||
de la Fouchardiere C,
|
||
Rivera F,
|
||
Elez E,
|
||
Bendell J,
|
||
Le DT,
|
||
Yoshino T,
|
||
Van Cutsem E,
|
||
Yang P,
|
||
Farooqui MZH,
|
||
Marinello P,
|
||
Diaz LA Jr;
|
||
KEYNOTE-177 Investigators</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Dec 3;383(23):2207-2218.
|
||
doi: 10.1056/NEJMoa2017699.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33264544" target="_blank">33264544</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32164556">Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Athota JP,
|
||
Bhat M,
|
||
Nampoothiri S,
|
||
Gowrishankar K,
|
||
Narayanachar SG,
|
||
Puttamallesh V,
|
||
Farooque MO,
|
||
Shetty S</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2020 Mar 12;21(1):50.
|
||
doi: 10.1186/s12881-020-0986-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32164556" target="_blank">32164556</a><a href="/pmc/articles/PMC7068896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29907801">Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leach NT,
|
||
Wilson Mathews DR,
|
||
Rosenblum LS,
|
||
Zhou Z,
|
||
Zhu H,
|
||
Heim RA</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2019 Feb;21(2):417-425.
|
||
Epub 2018 Jun 15
|
||
doi: 10.1038/s41436-018-0062-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29907801" target="_blank">29907801</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29469822">Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnston JJ,
|
||
van der Smagt JJ,
|
||
Rosenfeld JA,
|
||
Pagnamenta AT,
|
||
Alswaid A,
|
||
Baker EH,
|
||
Blair E,
|
||
Borck G,
|
||
Brinkmann J,
|
||
Craigen W,
|
||
Dung VC,
|
||
Emrick L,
|
||
Everman DB,
|
||
van Gassen KL,
|
||
Gulsuner S,
|
||
Harr MH,
|
||
Jain M,
|
||
Kuechler A,
|
||
Leppig KA,
|
||
McDonald-McGinn DM,
|
||
Can NTB,
|
||
Peleg A,
|
||
Roeder ER,
|
||
Rogers RC,
|
||
Sagi-Dain L,
|
||
Sapp JC,
|
||
Schäffer AA,
|
||
Schanze D,
|
||
Stewart H,
|
||
Taylor JC,
|
||
Verbeek NE,
|
||
Walkiewicz MA,
|
||
Zackai EH,
|
||
Zweier C;
|
||
Members of the Undiagnosed Diseases Network,
|
||
Zenker M,
|
||
Lee B,
|
||
Biesecker LG</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2018 Oct;20(10):1175-1185.
|
||
Epub 2018 Feb 22
|
||
doi: 10.1038/gim.2017.249.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29469822" target="_blank">29469822</a><a href="/pmc/articles/PMC6105555" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Noonan%20syndrome%2011%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 (168)</a></div></div>
|
||
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|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37289939">Prenatal diagnosis and postnatal outcome of fetal congenital knee dislocation: systematic review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cavoretto PI,
|
||
Castoldi M,
|
||
Corbella G,
|
||
Forte A,
|
||
Moharamzadeh D,
|
||
Emedoli D,
|
||
Candiani M,
|
||
De Pellegrin M</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2023 Dec;62(6):778-787.
|
||
doi: 10.1002/uog.26283.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37289939" target="_blank">37289939</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26341300">Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Richards C,
|
||
Jones C,
|
||
Groves L,
|
||
Moss J,
|
||
Oliver C</span><br />
|
||
<span class="medgenPMjournal">Lancet Psychiatry</span>
|
||
2015 Oct;2(10):909-16.
|
||
Epub 2015 Sep 1
|
||
doi: 10.1016/S2215-0366(15)00376-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26341300" target="_blank">26341300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23786871">Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bader-Meunier B,
|
||
Cavé H,
|
||
Jeremiah N,
|
||
Magerus A,
|
||
Lanzarotti N,
|
||
Rieux-Laucat F,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Semin Arthritis Rheum</span>
|
||
2013 Oct;43(2):217-9.
|
||
Epub 2013 Jun 17
|
||
doi: 10.1016/j.semarthrit.2013.04.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23786871" target="_blank">23786871</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Noonan%20syndrome%2011%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
|
||
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|
||
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|
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<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5193130%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C5193130%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C5193130%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5193130%5bDISCUI%5d" target="_blank">See all (14)</a></total></li>
|
||
</ul></div>
|
||
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|
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=618499" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Noonan%20syndrome%2011" target="_blank">ClinicalTrials.gov</a></li></ul></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=(noonan%20syndrome%2011)%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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