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<meta name="keywords" content="C5231432, disease or syndrome, noonan syndrome 12, ns12, rras2, 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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<title>Noonan syndrome 12 (Concept Id: C5231432)
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<!--
UID=1684730
ConceptID=C5231432
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Noonan syndrome 12<span class="h1sub">(NS12)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684730</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)&#10;Click for more information."><span class="highlight" style="background-color:">C5231432</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 12; NS12</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="RRAS2 - ID: 22800 - NCBI Gene" href="/gene/22800" class="medgenPMinfo">RRAS2</a> (11p15.2)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0032839" target="_blank">MONDO:0032839</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/618624" target="_blank">618624</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">
<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-12 (NS12) is characterized by macrocephaly and a recognizable facies, including hypertelorism, downslanting palpebral fissures, and low-set ears, as well as other features consistent with a Noonan syndrome diagnosis. Inter- and intrafamilial variability has been observed (Capri et al., 2019; Niihori et al., 2019).&#13;
For a general phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950).  <a target="_blank" href="http://www.omim.org/entry/618624">http://www.omim.org/entry/618624</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_340224"><div><strong>Glabellar hemangioma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340224</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)&#10;Click for more information.">C1854408</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/340224">Feature record</a> | <a href="/medgen?term=%22Glabellar%20hemangioma%22%5BClinical%20Features%5D%20OR%20340224%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_356033"><div><strong>Proximal placement of thumb</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356033</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)&#10;Click for more information.">C1865572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Proximal mislocalization of the thumb.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/356033">Feature record</a> | <a href="/medgen?term=%22Proximal%20placement%20of%20thumb%22%5BClinical%20Features%5D%20OR%20356033%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_2001"><div><strong>Supravalvar aortic stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2001</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)&#10;Click for more information.">C0003499</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve). Some people with SVAS also have defects in other blood vessels, most commonly stenosis of the artery from the heart to the lungs (the pulmonary artery). An abnormal heart sound during a heartbeat (heart murmur) can often be heard during a chest exam. If SVAS is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and ultimately heart failure.\n\nThe severity of SVAS varies considerably, even among family members. Some affected individuals die in infancy, while others never experience symptoms of the disorder.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2001">Feature record</a> | <a href="/medgen?term=%22Supravalvar%20aortic%20stenosis%22%5BClinical%20Features%5D%20OR%202001%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_42366"><div><strong>Ventricular septal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42366</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)&#10;Click for more information.">C0018818</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/42366">Feature record</a> | <a href="/medgen?term=%22Ventricular%20septal%20defect%22%5BClinical%20Features%5D%20OR%2042366%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_21498"><div><strong>Tetralogy of Fallot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21498</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)&#10;Click for more information.">C0039685</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">People with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.\n\nEach of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nCritical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/21498">Feature record</a> | <a href="/medgen?term=%22Tetralogy%20of%20Fallot%22%5BClinical%20Features%5D%20OR%2021498%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_333160"><div><strong>Anteriorly placed anus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333160</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)&#10;Click for more information.">C1838705</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Anterior malposition of the anus.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/333160">Feature record</a> | <a href="/medgen?term=%22Anteriorly%20placed%20anus%22%5BClinical%20Features%5D%20OR%20333160%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)&#10;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_2065"><div><strong>Chiari malformation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2065</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)&#10;Click for more information.">C0003803</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2065">Feature record</a> | <a href="/medgen?term=%22Chiari%20malformation%22%5BClinical%20Features%5D%20OR%202065%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</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)&#10;Click for more information.">C1854301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_480553"><div><strong>Ventriculomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480553</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)&#10;Click for more information.">C3278923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An increase in size of the ventricular system of the brain.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/480553">Feature record</a> | <a href="/medgen?term=%22Ventriculomegaly%22%5BClinical%20Features%5D%20OR%20480553%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_861405"><div><strong>Mild global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>861405</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)&#10;Click for more information.">C4012968</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A mild delay in the achievement of motor or mental milestones in the domains of development of a child.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/861405">Feature record</a> | <a href="/medgen?term=%22Mild%20global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20861405%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_52737"><div><strong>Thrombocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52737</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)&#10;Click for more information.">C0040034</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A reduction in the number of circulating thrombocytes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/52737">Feature record</a> | <a href="/medgen?term=%22Thrombocytopenia%22%5BClinical%20Features%5D%20OR%2052737%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)&#10;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_326950"><div><strong>11 pairs of ribs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326950</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)&#10;Click for more information.">C1839731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Presence of only 11 pairs of ribs.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/326950">Feature record</a> | <a href="/medgen?term=%2211%20pairs%20of%20ribs%22%5BClinical%20Features%5D%20OR%20326950%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_396107"><div><strong>Spinal canal stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396107</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)&#10;Click for more information.">C1861329</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal narrowing of the spinal canal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/396107">Feature record</a> | <a href="/medgen?term=%22Spinal%20canal%20stenosis%22%5BClinical%20Features%5D%20OR%20396107%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)&#10;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_41502"><div><strong>Atopic eczema</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41502</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)&#10;Click for more information.">C0011615</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Atopic dermatitis (ATOD), also known as eczema, is a common chronic pruritic inflammatory skin disease with a strong genetic component. Onset typically occurs during the first 2 years of life (review by Soderhall et al., 2007).&#13; Genetic Heterogeneity of Atopic Dermatitis&#13; Many inflammatory diseases, such as atopic eczema, are genetically complex, with multiple alleles at several loci thought to be involved in their pathogenesis. Several susceptibility loci for atopic dermatitis have been identified: ATOD1 on chromosome 3q21, ATOD2 (605803) on chromosome 1q21, ATOD3 (605804) on chromosome 20p, ATOD4 (605805) on chromosome 17q25.3, ATOD5 (603165) on chromosome 13q12-q14, ATOD6 (605845) on chromosome 5q31-q33, ATOD7 (613064) on chromosome 11q13.5, ATOD8 (613518) on chromosome 4q22.1, and ATOD9 (613519) on chromosome 3p24.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/41502">Feature record</a> | <a href="/medgen?term=%22Atopic%20eczema%22%5BClinical%20Features%5D%20OR%2041502%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_7418"><div><strong>Lymphopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7418</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)&#10;Click for more information.">C0024312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A reduced number of lymphocytes in the blood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7418">Feature record</a> | <a href="/medgen?term=%22Lymphopenia%22%5BClinical%20Features%5D%20OR%207418%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_6936"><div><strong>Polyhydramnios</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6936</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)&#10;Click for more information.">C0020224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">The presence of excess amniotic fluid in the uterus during pregnancy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6936">Feature record</a> | <a href="/medgen?term=%22Polyhydramnios%22%5BClinical%20Features%5D%20OR%206936%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1784655"><div><strong>Decreased response to growth hormone stimulation test</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1784655</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)&#10;Click for more information.">C5539399</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1784655">Feature record</a> | <a href="/medgen?term=%22Decreased%20response%20to%20growth%20hormone%20stimulation%20test%22%5BClinical%20Features%5D%20OR%201784655%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_8009"><div><strong>Amblyopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8009</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)&#10;Click for more information.">C0002418</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/8009">Feature record</a> | <a href="/medgen?term=%22Amblyopia%22%5BClinical%20Features%5D%20OR%208009%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_4550"><div><strong>Esotropia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4550</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)&#10;Click for more information.">C0014877</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/4550">Feature record</a> | <a href="/medgen?term=%22Esotropia%22%5BClinical%20Features%5D%20OR%204550%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_43780"><div><strong>Hypermetropia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43780</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)&#10;Click for more information.">C0020490</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/43780">Feature record</a> | <a href="/medgen?term=%22Hypermetropia%22%5BClinical%20Features%5D%20OR%2043780%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_21337"><div><strong>Strabismus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21337</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)&#10;Click for more information.">C0038379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/21337">Feature record</a> | <a href="/medgen?term=%22Strabismus%22%5BClinical%20Features%5D%20OR%2021337%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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_356033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proximal placement of thumb</a></span></li></ul></li><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6936" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyhydramnios</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_2001" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Supravalvar aortic stenosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21498" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tetralogy of Fallot</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular septal defect</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_333160" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anteriorly placed anus</a></span></li><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 endocrine system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1784655" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased response to growth hormone stimulation test</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_8009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amblyopia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4550" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Esotropia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43780" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypermetropia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Strabismus</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41502" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atopic eczema</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7418" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphopenia</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_326950" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">11 pairs of ribs</a></span></li><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_396107" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinal canal stenosis</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_2065" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chiari malformation</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_861405" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mild global developmental delay</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_480553" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventriculomegaly</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340224" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glabellar hemangioma</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=C5231432[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=1684730">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1684730" target="_blank" href="/omim/600098">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=1684730">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=1684730" ref="ncbi_uid=1684730">V</a></span></span><span class="TLline">Noonan syndrome 12</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 12</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/34481768">Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Porras AR,
Rosenbaum K,
Tor-Diez C,
Summar M,
Linguraru MG</span><br />
<span class="medgenPMjournal">Lancet Digit Health</span>
2021 Oct;3(10):e635-e643.
Epub 2021 Sep 1
doi: 10.1016/S2589-7500(21)00137-0.
<span class="bold">PMID: </span><a href="/pubmed/34481768" target="_blank">34481768</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22noonan%20syndrome%2012%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 (1)</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/37045714">Pectus Arcuatum: A Pectus Unlike Any Other.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Abdellaoui S,
Scalabre A,
Piolat C,
Lavrand F,
Lachkar AA,
Lehn A,
Klipfel C,
Henry B,
Soldea V,
Hameury F,
Becmeur F</span><br />
<span class="medgenPMjournal">J Pediatr Surg</span>
2023 Sep;58(9):1679-1685.
Epub 2023 Mar 23
doi: 10.1016/j.jpedsurg.2023.03.013.
<span class="bold">PMID: </span><a href="/pubmed/37045714" target="_blank">37045714</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35034678">Noonan syndrome and pregnancy outcomes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chow CA,
Campbell KH,
Chou JC,
Elder RW</span><br />
<span class="medgenPMjournal">Cardiol Young</span>
2022 Dec;32(12):1925-1929.
Epub 2022 Jan 17
doi: 10.1017/S104795112100514X.
<span class="bold">PMID: </span><a href="/pubmed/35034678" target="_blank">35034678</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34358384">Clinical experience with non-invasive prenatal screening for single-gene disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mohan P,
Lemoine J,
Trotter C,
Rakova I,
Billings P,
Peacock S,
Kao CY,
Wang Y,
Xia F,
Eng CM,
Benn P</span><br />
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
2022 Jan;59(1):33-39.
doi: 10.1002/uog.23756.
<span class="bold">PMID: </span><a href="/pubmed/34358384" target="_blank">34358384</a><a href="/pmc/articles/PMC9302116" 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/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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Noonan%20syndrome%2012%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 (162)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38136934">The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Scorrano G,
David E,
Calì E,
Chimenz R,
La Bella S,
Di Ludovico A,
Di Rosa G,
Gitto E,
Mankad K,
Nardello R,
Mangano GD,
Leoni C,
Ceravolo G</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2023 Nov 22;14(12)
doi: 10.3390/genes14122111.
<span class="bold">PMID: </span><a href="/pubmed/38136934" target="_blank">38136934</a><a href="/pmc/articles/PMC10742720" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35246453">Noonan syndrome: improving recognition and diagnosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zenker M,
Edouard T,
Blair JC,
Cappa M</span><br />
<span class="medgenPMjournal">Arch Dis Child</span>
2022 Dec;107(12):1073-1078.
Epub 2022 Mar 4
doi: 10.1136/archdischild-2021-322858.
<span class="bold">PMID: </span><a href="/pubmed/35246453" target="_blank">35246453</a><a href="/pmc/articles/PMC9685729" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34358384">Clinical experience with non-invasive prenatal screening for single-gene disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mohan P,
Lemoine J,
Trotter C,
Rakova I,
Billings P,
Peacock S,
Kao CY,
Wang Y,
Xia F,
Eng CM,
Benn P</span><br />
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
2022 Jan;59(1):33-39.
doi: 10.1002/uog.23756.
<span class="bold">PMID: </span><a href="/pubmed/34358384" target="_blank">34358384</a><a href="/pmc/articles/PMC9302116" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<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/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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Noonan%20syndrome%2012%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 (175)</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/37099341">Randomized Trial of BCG Vaccine to Protect against Covid-19 in Health Care Workers.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pittet LF,
Messina NL,
Orsini F,
Moore CL,
Abruzzo V,
Barry S,
Bonnici R,
Bonten M,
Campbell J,
Croda J,
Dalcolmo M,
Gardiner K,
Gell G,
Germano S,
Gomes-Silva A,
Goodall C,
Gwee A,
Jamieson T,
Jardim B,
Kollmann TR,
Lacerda MVG,
Lee KJ,
Lucas M,
Lynn DJ,
Manning L,
Marshall HS,
McDonald E,
Munns CF,
Nicholson S,
O'Connell A,
de Oliveira RD,
Perlen S,
Perrett KP,
Prat-Aymerich C,
Richmond PC,
Rodriguez-Baño J,
Dos Santos G,
da Silva PV,
Teo JW,
Villanueva P,
Warris A,
Wood NJ,
Davidson A,
Curtis N;
BRACE Trial Consortium Group</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2023 Apr 27;388(17):1582-1596.
doi: 10.1056/NEJMoa2212616.
<span class="bold">PMID: </span><a href="/pubmed/37099341" target="_blank">37099341</a><a href="/pmc/articles/PMC10497190" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34149626">Etiology and Treatment of Growth Delay in Noonan Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rodríguez F,
Gaete X,
Cassorla F</span><br />
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
2021;12:691240.
Epub 2021 Jun 4
doi: 10.3389/fendo.2021.691240.
<span class="bold">PMID: </span><a href="/pubmed/34149626" target="_blank">34149626</a><a href="/pmc/articles/PMC8212989" 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/12807497">Growth hormone therapy for syndromic disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kelnar CJ</span><br />
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
2003 Jul;59(1):12-21.
doi: 10.1046/j.1365-2265.2003.01756.x.
<span class="bold">PMID: </span><a href="/pubmed/12807497" target="_blank">12807497</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Noonan%20syndrome%2012%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 (84)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38217456">Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Boleti O,
Norrish G,
Field E,
Dady K,
Summers K,
Nepali G,
Bhole V,
Uzun O,
Wong A,
Daubeney PEF,
Stuart G,
Fernandes P,
McLeod K,
Ilina M,
Ali MNL,
Bharucha T,
Donne GD,
Brown E,
Linter K,
Jones CB,
Searle J,
Regan W,
Mathur S,
Boyd N,
Reinhardt Z,
Duignan S,
Prendiville T,
Adwani S,
Kaski JP</span><br />
<span class="medgenPMjournal">ESC Heart Fail</span>
2024 Apr;11(2):923-936.
Epub 2024 Jan 13
doi: 10.1002/ehf2.14637.
<span class="bold">PMID: </span><a href="/pubmed/38217456" target="_blank">38217456</a><a href="/pmc/articles/PMC10966228" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38136934">The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Scorrano G,
David E,
Calì E,
Chimenz R,
La Bella S,
Di Ludovico A,
Di Rosa G,
Gitto E,
Mankad K,
Nardello R,
Mangano GD,
Leoni C,
Ceravolo G</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2023 Nov 22;14(12)
doi: 10.3390/genes14122111.
<span class="bold">PMID: </span><a href="/pubmed/38136934" target="_blank">38136934</a><a href="/pmc/articles/PMC10742720" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35575813">Epilepsy in a cohort of children with Noonan syndrome and related disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Davico C,
D'Alessandro R,
Borgogno M,
Campagna F,
Torta F,
Ricci F,
Amianto F,
Vittorini R,
Carli D,
Mussa A,
Vitiello B,
Ferrero GB</span><br />
<span class="medgenPMjournal">Eur J Pediatr</span>
2022 Aug;181(8):2919-2926.
Epub 2022 May 16
doi: 10.1007/s00431-022-04497-6.
<span class="bold">PMID: </span><a href="/pubmed/35575813" target="_blank">35575813</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%2012%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 (74)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38217456">Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Boleti O,
Norrish G,
Field E,
Dady K,
Summers K,
Nepali G,
Bhole V,
Uzun O,
Wong A,
Daubeney PEF,
Stuart G,
Fernandes P,
McLeod K,
Ilina M,
Ali MNL,
Bharucha T,
Donne GD,
Brown E,
Linter K,
Jones CB,
Searle J,
Regan W,
Mathur S,
Boyd N,
Reinhardt Z,
Duignan S,
Prendiville T,
Adwani S,
Kaski JP</span><br />
<span class="medgenPMjournal">ESC Heart Fail</span>
2024 Apr;11(2):923-936.
Epub 2024 Jan 13
doi: 10.1002/ehf2.14637.
<span class="bold">PMID: </span><a href="/pubmed/38217456" target="_blank">38217456</a><a href="/pmc/articles/PMC10966228" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34358384">Clinical experience with non-invasive prenatal screening for single-gene disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mohan P,
Lemoine J,
Trotter C,
Rakova I,
Billings P,
Peacock S,
Kao CY,
Wang Y,
Xia F,
Eng CM,
Benn P</span><br />
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
2022 Jan;59(1):33-39.
doi: 10.1002/uog.23756.
<span class="bold">PMID: </span><a href="/pubmed/34358384" target="_blank">34358384</a><a href="/pmc/articles/PMC9302116" 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/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%2012%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 (103)</a></div></div>
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<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/38581124">Autism spectrum disorder profiles in RASopathies: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Debbaut E,
Steyaert J,
El Bakkali M</span><br />
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
2024 Apr;12(4):e2428.
doi: 10.1002/mgg3.2428.
<span class="bold">PMID: </span><a href="/pubmed/38581124" target="_blank">38581124</a><a href="/pmc/articles/PMC10997847" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37075730">Effect of Growth Hormone Therapy on Pubertal Timing: Systematic Review and Meta-Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Olwi D,
Day F,
Ong K</span><br />
<span class="medgenPMjournal">Horm Res Paediatr</span>
2024;97(1):1-10.
Epub 2023 Apr 19
doi: 10.1159/000530578.
<span class="bold">PMID: </span><a href="/pubmed/37075730" target="_blank">37075730</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35561969">Systematic literature review of lymphatic imaging-guided procedural management of Noonan syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cox TP,
Vance CJ,
Daley SK,
Papendieck C,
McGregor H,
Kuo P,
Witte MH</span><br />
<span class="medgenPMjournal">J Vasc Surg Venous Lymphat Disord</span>
2022 Sep;10(5):1192-1196.e3.
Epub 2022 May 10
doi: 10.1016/j.jvsv.2022.03.017.
<span class="bold">PMID: </span><a href="/pubmed/35561969" target="_blank">35561969</a><a href="/pmc/articles/PMC9378476" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34309942">Diagnostic yield of next-generation sequencing in fetuses with isolated increased nuchal translucency: systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pauta M,
Martinez-Portilla RJ,
Borrell A</span><br />
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
2022 Jan;59(1):26-32.
doi: 10.1002/uog.23746.
<span class="bold">PMID: </span><a href="/pubmed/34309942" target="_blank">34309942</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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Noonan%20syndrome%2012%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 (5)</a></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5231432%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
<li><a href="/gtr/tests?term=C5231432%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (6)</a></li>
<li><a href="/gtr/tests?term=C5231432%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5231432%5bDISCUI%5d" target="_blank">See all (7)</a></total></li>
</ul></div>
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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>
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=618624" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Noonan%20syndrome%2012" 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>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22noonan%20syndrome%2012%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_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=600098" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=22800[geneid]" target="_blank">View RRAS2 variations in ClinVar</a></li><li><a href="/nuccore/294489301" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=618624" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/noonan_syndrome_12" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Noonan%20syndrome%2012" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16369/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<h3>Reviews</h3>
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<li>
<a href="/pubmed/clinical?term=Noonan%20syndrome%2012" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=2&amp;linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Noonan%20syndrome%2012%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=3&amp;linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=1684730" ref="log$=recordlinks">ClinVar</a>
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&amp;from_uid=1684730" ref="log$=recordlinks">Gene</a>
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C5231432[DISCUI]" ref="log$=recordlinks">GTR</a>
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C5231432[DISCUI]&amp;test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&amp;from_uid=1684730" ref="log$=recordlinks">OMIM</a>
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&amp;from_uid=1684730" ref="log$=recordlinks">OMIM(Genes)</a>
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&amp;from_uid=1684730" ref="log$=recordlinks">PMC Articles</a>
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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