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<meta name="keywords" content="C0175693, disease or syndrome, dwarfism, silver russell, dwarfism, silver-russell, rss, russell silver syndrome, russell's syndrome, russell-silver dwarfism, russell-silver syndrome, russell-silver syndromes, silver russell dwarfism, silver russell syndrome, silver syndrome, silver-russell dwarfism, silver-russell syndrome, srs, syndrome, russell silver, syndrome, russell-silver, syndrome, silver-russell, syndromes, russell-silver, 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="Silver-Russell Syndrome (SRS) is typically characterized by gestational growth restriction resulting in affected individuals being born small for gestational age, with relative macrocephaly at birth (head circumference =1.5 standard deviations [SD] above birth weight and/or length), prominent forehead with frontal bossing, and frequently body asymmetry. This is typically followed by postnatal growth failure, and in some cases progressive limb length discrepancy and feeding difficulties. Additional clinical features include triangular facies, fifth finger clinodactyly, and micrognathia with narrow chin. Except for the limb length asymmetry, growth failure is proportionate and head growth typically normal. The average adult height in untreated individuals is ~3.1±1.4 SD below the mean. The Netchine-Harbison Clinical Scoring System (NH-CSS) is a sensitive diagnostic scoring system. Clinical diagnosis can be established in an individual who meets at least four of the NH-CSS clinical criteria – prominent forehead/frontal bossing and relative macrocephaly at birth plus two additional findings – and in whom other disorders have been ruled out." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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<!--
|
||
UID=104492
|
||
ConceptID=C0175693
|
||
-->
|
||
<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1324/bin/rss-Image001.gif" src-large="/books/NBK1324/bin/rss-Image001.jpg" /></a><br /><a href="/books/NBK1324/figure/rss.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1324/bin/rss-Image002.gif" src-large="/books/NBK1324/bin/rss-Image002.jpg" /></a><br /><a href="/books/NBK1324/figure/rss.F2/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Russell-Silver syndrome<span class="h1sub">(RSS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>104492</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:">C0175693</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>Dwarfism, Silver Russell; Dwarfism, Silver-Russell; Russell Silver Syndrome; Russell-Silver Syndrome; Russell-Silver Syndromes; Silver Russell Dwarfism; Silver Russell Syndrome; Silver-Russell Dwarfism; Silver-Russell Syndrome; Syndrome, Russell Silver; Syndrome, Russell-Silver; Syndrome, Silver-Russell; Syndromes, Russell-Silver</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Russell-Silver syndrome (15069006); Silver syndrome (15069006); Russell's syndrome (15069006)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/105259599">H19-ICR</a>, <a target="_blank" href="/gene/8091">HMGA2</a>, <a target="_blank" href="/gene/5324">PLAG1</a>, <a target="_blank" href="/gene/3481">IGF2</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008394" target="_blank">MONDO:0008394</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/180860" target="_blank">180860</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS180860" target="_blank">PS180860</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=813">ORPHA813</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/NBK1324" target="_blank">Silver-Russell Syndrome</a></div><div>Silver-Russell Syndrome (SRS) is typically characterized by gestational growth restriction resulting in affected individuals being born small for gestational age, with relative macrocephaly at birth (head circumference ≥1.5 standard deviations [SD] above birth weight and/or length), prominent forehead with frontal bossing, and frequently body asymmetry. This is typically followed by postnatal growth failure, and in some cases progressive limb length discrepancy and feeding difficulties. Additional clinical features include triangular facies, fifth finger clinodactyly, and micrognathia with narrow chin. Except for the limb length asymmetry, growth failure is proportionate and head growth typically normal. The average adult height in untreated individuals is ~3.1±1.4 SD below the mean. The Netchine-Harbison Clinical Scoring System (NH-CSS) is a sensitive diagnostic scoring system. Clinical diagnosis can be established in an individual who meets at least four of the NH-CSS clinical criteria – prominent forehead/frontal bossing and relative macrocephaly at birth plus two additional findings – and in whom other disorders have been ruled out. [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/NBK1324#rss.Summary" target="NBK1324">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1324#rss.Diagnosis" target="NBK1324">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1324#rss.Clinical_Characteristics" target="NBK1324">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1324#rss.Genetically_Related_Allelic_Disorder" target="NBK1324">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1324#rss.Differential_Diagnosis" target="NBK1324">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1324#rss.Management" target="NBK1324">Management</a> | <a class="medgenPMinfo" href="/books/NBK1324#rss.Genetic_Counseling" target="NBK1324">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1324#rss.Resources" target="NBK1324">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1324#rss.Molecular_Genetics" target="NBK1324">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1324#rss.Chapter_Notes" target="NBK1324">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1324#rss.References" target="NBK1324">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Howard M Saal | Madeleine D Harbison | Irene Netchine <a href="/books/NBK1324" target="NBK1324" title="NCBI Bookshelf: Silver-Russell Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Silver-Russell syndrome-1 (SRS1) is a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. Hypomethylation at distal chromosome 11p15 (ICR1) represents a major cause of the disorder. Opposite epimutations, namely hypermethylation at the same region on 11p15, are observed in about 5 to 10% of patients with Beckwith-Wiedemann syndrome (BWS; 130650), an overgrowth syndrome (Bartholdi et al., 2009).
|
||
Genetic Heterogeneity of Silver-Russell Syndrome
|
||
SRS2 (618905) is caused by maternal uniparental disomy of chromosome 7. SRS3 (616489) is caused by mutation in the IGF2 gene (147470) on chromosome 11p15. SRS4 (618907) is caused by mutation in the PLAG1 gene (603026) on chromosome 8q12. SRS5 (618908) is caused by mutation in the HMGA2 gene (600698) on chromosome 12q14. <a target="_blank" href="http://www.omim.org/entry/180860">http://www.omim.org/entry/180860</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Russell-Silver syndrome is a growth disorder characterized by slow growth before and after birth. Babies with this condition have a low birth weight and often fail to grow and gain weight at the expected rate (failure to thrive). Head growth is normal, however, so the head may appear unusually large compared to the rest of the body. Affected children are thin and have poor appetites, and some develop recurrent episodes of low blood glucose (hypoglycemia) as a result of feeding difficulties. Adults with Russell-Silver syndrome are short; the average height for affected men is about 151 centimeters (4 feet, 11 inches) and the average height for affected women is about 140 centimeters (4 feet, 7 inches).<br /><br />Many children with Russell-Silver syndrome have a small, triangular face with distinctive facial features including a prominent forehead, a narrow chin, a small jaw, and downturned corners of the mouth. Other features of this disorder can include an unusual curving of the fifth finger (clinodactyly), asymmetric or uneven growth of some parts of the body, and digestive system abnormalities. Russell-Silver syndrome is also associated with an increased risk of delayed development, speech and language problems, and learning disabilities. <a target="_blank" href="https://medlineplus.gov/genetics/condition/russell-silver-syndrome">https://medlineplus.gov/genetics/condition/russell-silver-syndrome</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0175693[DISCUI]&test_type=Clinical" ref="ncbi_uid=104492">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=104492" target="_blank" href="/omim/180860">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1324/" ref="ncbi_uid=104492">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=104492" ref="ncbi_uid=104492">V</a></span></span><span class="TLline">Russell-Silver syndrome</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5393125[DISCUI]&test_type=Clinical" ref="ncbi_uid=1718472">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1718472" target="_blank" href="/omim/180860">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1324/" ref="ncbi_uid=1718472">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1718472" ref="ncbi_uid=1718472">V</a></span></span><span class="TLline"><a href="/medgen/1718472" ref="tree=GTR&ncbi_uid=1718472&link_uid=1718472" title="View MedGen record for 'Silver-Russell syndrome 1'">Silver-Russell syndrome 1</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5680916[DISCUI]&test_type=Clinical" ref="ncbi_uid=1826102">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1826102" ref="tree=GTR&ncbi_uid=1826102&link_uid=1826102" title="View MedGen record for 'Silver-Russell syndrome due to an imprinting defect of 11p15'">Silver-Russell syndrome due to an imprinting defect of 11p15</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1714148" target="_blank" href="/omim/618905">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1324/" ref="ncbi_uid=1714148">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1714148" ref="tree=GTR&ncbi_uid=1714148&link_uid=1714148" title="View MedGen record for 'Silver-russell syndrome 2'">Silver-russell syndrome 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4225307[DISCUI]&test_type=Clinical" ref="ncbi_uid=894912">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=894912" target="_blank" href="/omim/147470">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=894912" ref="ncbi_uid=894912">V</a></span></span><span class="TLline"><a href="/medgen/894912" ref="tree=GTR&ncbi_uid=894912&link_uid=894912" title="View MedGen record for 'Silver-Russell syndrome 3'">Silver-Russell syndrome 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1712866" target="_blank" href="/omim/603026">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1324/" ref="ncbi_uid=1712866">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1712866" ref="ncbi_uid=1712866">V</a></span></span><span class="TLline"><a href="/medgen/1712866" ref="tree=GTR&ncbi_uid=1712866&link_uid=1712866" title="View MedGen record for 'Silver-russell syndrome 4'">Silver-russell syndrome 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1713787" target="_blank" href="/omim/600698">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1324/" ref="ncbi_uid=1713787">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1713787" ref="ncbi_uid=1713787">V</a></span></span><span class="TLline"><a href="/medgen/1713787" ref="tree=GTR&ncbi_uid=1713787&link_uid=1713787" title="View MedGen record for 'Silver-Russell syndrome 5'">Silver-Russell syndrome 5</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/3441" ref="tree=MeSH" title="MedGen record for Congenital chromosomal disease">Congenital chromosomal disease</a></span><ul><li><span class="matched_ds">Russell-Silver syndrome</span><ul><li><span class="TLline"><a href="/medgen/1718472" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome 1">Silver-Russell syndrome 1</a></span><ul><li><span class="TLline"><a href="/medgen/1826102" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to an imprinting defect of 11p15">Silver-Russell syndrome due to an imprinting defect of 11p15</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1714148" ref="tree=MeSH" title="MedGen record for Silver-russell syndrome 2">Silver-russell syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/894912" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome 3">Silver-Russell syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/1712866" ref="tree=MeSH" title="MedGen record for Silver-russell syndrome 4">Silver-russell syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/1713787" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome 5">Silver-Russell syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/1826103" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to 11p15 microduplication">Silver-Russell syndrome due to 11p15 microduplication</a></span></li><li><span class="TLline"><a href="/medgen/1826059" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to 7p11.2p13 microduplication">Silver-Russell syndrome due to 7p11.2p13 microduplication</a></span></li><li><span class="TLline"><a href="/medgen/1843388" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to a point mutation">Silver-Russell syndrome due to a point mutation</a></span></li><li><span class="TLline"><a href="/medgen/1826074" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7">Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7</a></span></li><li><span class="TLline"><a href="/medgen/1843295" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11">Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=584&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Russell-Silver syndrome</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27585961">Diagnosis and management of Silver-Russell syndrome: first international consensus statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wakeling EL,
|
||
Brioude F,
|
||
Lokulo-Sodipe O,
|
||
O'Connell SM,
|
||
Salem J,
|
||
Bliek J,
|
||
Canton AP,
|
||
Chrzanowska KH,
|
||
Davies JH,
|
||
Dias RP,
|
||
Dubern B,
|
||
Elbracht M,
|
||
Giabicani E,
|
||
Grimberg A,
|
||
Grønskov K,
|
||
Hokken-Koelega AC,
|
||
Jorge AA,
|
||
Kagami M,
|
||
Linglart A,
|
||
Maghnie M,
|
||
Mohnike K,
|
||
Monk D,
|
||
Moore GE,
|
||
Murray PG,
|
||
Ogata T,
|
||
Petit IO,
|
||
Russo S,
|
||
Said E,
|
||
Toumba M,
|
||
Tümer Z,
|
||
Binder G,
|
||
Eggermann T,
|
||
Harbison MD,
|
||
Temple IK,
|
||
Mackay DJ,
|
||
Netchine I</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2017 Feb;13(2):105-124.
|
||
Epub 2016 Sep 2
|
||
doi: 10.1038/nrendo.2016.138.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27585961" target="_blank">27585961</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21150879">Clinical utility gene card for: Silver-Russell syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eggermann T,
|
||
Buiting K,
|
||
Temple IK</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2011 Mar;19(3)
|
||
Epub 2010 Dec 8
|
||
doi: 10.1038/ejhg.2010.202.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21150879" target="_blank">21150879</a><a href="/pmc/articles/PMC3061987" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16128241">Managing children with Russell-Silver syndrome: more than just growth hormone treatment?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Christoforidis A,
|
||
Maniadaki I,
|
||
Stanhope R</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2005 Jul;18(7):651-2.
|
||
doi: 10.1515/jpem.2005.18.7.651.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16128241" target="_blank">16128241</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22russell-silver%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (33)</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/24322424">Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Azzi S,
|
||
Abi Habib W,
|
||
Netchine I</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
|
||
2014 Feb;21(1):30-8.
|
||
doi: 10.1097/MED.0000000000000037.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24322424" target="_blank">24322424</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22329413">Generalized lichen nitidus in Russell-Silver syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kanai C,
|
||
Terao M,
|
||
Tanemura A,
|
||
Miyoshi Y,
|
||
Ozono K,
|
||
Katayama I</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2013 Jan-Feb;30(1):150-1.
|
||
Epub 2012 Feb 14
|
||
doi: 10.1111/j.1525-1470.2011.01613.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22329413" target="_blank">22329413</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20803658">Russell-Silver syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eggermann T</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2010 Aug 15;154C(3):355-64.
|
||
doi: 10.1002/ajmg.c.30274.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20803658" target="_blank">20803658</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2414426">Reevaluation of Russell-Silver syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saal HM,
|
||
Pagon RA,
|
||
Pepin MG</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1985 Nov;107(5):733-7.
|
||
doi: 10.1016/s0022-3476(85)80402-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2414426" target="_blank">2414426</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4357210">The Russell-Silver syndrome: a nine-year follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McDowell RV,
|
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Sproles ET 3rd</span><br />
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1973 Dec;126(6):794-6.
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<span class="bold">PMID: </span><a href="/pubmed/4357210" target="_blank">4357210</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Russell-Silver%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (35)</a></div><h3 class="subhead">Diagnosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/34215464">Russell-Silver Syndrome and Associated Feeding Challenges.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Anderson S,
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Brill J,
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<span class="bold">PMID: </span><a href="/pubmed/34215464" target="_blank">34215464</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33766302">50 Years Ago in TheJournalofPediatrics: Familial Russell-Silver Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Giampietro PF</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/20803658">Russell-Silver syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Eggermann T</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/20803658" target="_blank">20803658</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/3050100">Russell-Silver syndrome.</a></div>
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|
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|
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<div class="nl"><a target="_blank" href="/pubmed/5116714">Russell-Silver syndrome in siblings.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Haicken BN</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Russell-Silver%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (58)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/22329413">Generalized lichen nitidus in Russell-Silver syndrome.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Kanai C,
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Terao M,
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Tanemura A,
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Miyoshi Y,
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Ozono K,
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Katayama I</span><br />
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<span class="medgenPMjournal">Pediatr Dermatol</span>
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Epub 2012 Feb 14
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doi: 10.1111/j.1525-1470.2011.01613.x.
|
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<span class="bold">PMID: </span><a href="/pubmed/22329413" target="_blank">22329413</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16128241">Managing children with Russell-Silver syndrome: more than just growth hormone treatment?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Christoforidis A,
|
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Maniadaki I,
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Stanhope R</span><br />
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<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
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2005 Jul;18(7):651-2.
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doi: 10.1515/jpem.2005.18.7.651.
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||
<span class="bold">PMID: </span><a href="/pubmed/16128241" target="_blank">16128241</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11847473">Growth hormone treatment does not alter lower limb asymmetry in children with Russell-Silver syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rizzo V,
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Traggiai C,
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Stanhope R</span><br />
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<span class="medgenPMjournal">Horm Res</span>
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2001;56(3-4):114-6.
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doi: 10.1159/000048102.
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<span class="bold">PMID: </span><a href="/pubmed/11847473" target="_blank">11847473</a></div>
|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/9730671">Growth hormone treatment of Russell-Silver syndrome.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Stanhope R,
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Albanese A,
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Azcona C</span><br />
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<span class="medgenPMjournal">Horm Res</span>
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doi: 10.1159/000053086.
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<span class="bold">PMID: </span><a href="/pubmed/9730671" target="_blank">9730671</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/8406345">Growth and metabolic data following growth hormone treatment of children with intrauterine growth retardation.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Albanese A,
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Stanhope R</span><br />
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<span class="medgenPMjournal">Horm Res</span>
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1993;39(1-2):8-12.
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doi: 10.1159/000182687.
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<span class="bold">PMID: </span><a href="/pubmed/8406345" target="_blank">8406345</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Russell-Silver%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (20)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26358311">Paternal duplication of the 11p15 centromeric imprinting control region is associated with increased expression of CDKN1C in a child with Russell-Silver syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xue Y,
|
||
Shankar S,
|
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Cornell K,
|
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Dai Z,
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Wang CE,
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Rudd MK,
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Coffee B</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
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2015 Dec;167A(12):3229-33.
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Epub 2015 Sep 11
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doi: 10.1002/ajmg.a.37371.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26358311" target="_blank">26358311</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24322424">Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Azzi S,
|
||
Abi Habib W,
|
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Netchine I</span><br />
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<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
|
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2014 Feb;21(1):30-8.
|
||
doi: 10.1097/MED.0000000000000037.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24322424" target="_blank">24322424</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22329413">Generalized lichen nitidus in Russell-Silver syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kanai C,
|
||
Terao M,
|
||
Tanemura A,
|
||
Miyoshi Y,
|
||
Ozono K,
|
||
Katayama I</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2013 Jan-Feb;30(1):150-1.
|
||
Epub 2012 Feb 14
|
||
doi: 10.1111/j.1525-1470.2011.01613.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22329413" target="_blank">22329413</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16128243">Hypoglycaemia and Russell-Silver syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Azcona C,
|
||
Stanhope R</span><br />
|
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<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
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||
2005 Jul;18(7):663-70.
|
||
doi: 10.1515/jpem.2005.18.7.663.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16128243" target="_blank">16128243</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4357210">The Russell-Silver syndrome: a nine-year follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McDowell RV,
|
||
Sproles ET 3rd</span><br />
|
||
<span class="medgenPMjournal">Am J Dis Child</span>
|
||
1973 Dec;126(6):794-6.
|
||
doi: 10.1001/archpedi.1973.02110190640011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4357210" target="_blank">4357210</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Russell-Silver%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (24)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38347515">A supervised learning method for classifying methylation disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Walsh JR,
|
||
Sun G,
|
||
Balan J,
|
||
Hardcastle J,
|
||
Vollenweider J,
|
||
Jerde C,
|
||
Rumilla K,
|
||
Koellner C,
|
||
Koleilat A,
|
||
Hasadsri L,
|
||
Kipp B,
|
||
Jenkinson G,
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Klee E</span><br />
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<span class="medgenPMjournal">BMC Bioinformatics</span>
|
||
2024 Feb 12;25(1):66.
|
||
doi: 10.1186/s12859-024-05673-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38347515" target="_blank">38347515</a><a href="/pmc/articles/PMC10863277" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24322424">Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Azzi S,
|
||
Abi Habib W,
|
||
Netchine I</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
|
||
2014 Feb;21(1):30-8.
|
||
doi: 10.1097/MED.0000000000000037.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24322424" target="_blank">24322424</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20803658">Russell-Silver syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eggermann T</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2010 Aug 15;154C(3):355-64.
|
||
doi: 10.1002/ajmg.c.30274.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20803658" target="_blank">20803658</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20385510">Russell-Silver syndrome due to paternal H19/IGF2 hypomethylation in a patient conceived using intracytoplasmic sperm injection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chopra M,
|
||
Amor DJ,
|
||
Sutton L,
|
||
Algar E,
|
||
Mowat D</span><br />
|
||
<span class="medgenPMjournal">Reprod Biomed Online</span>
|
||
2010 Jun;20(6):843-7.
|
||
Epub 2010 Mar 4
|
||
doi: 10.1016/j.rbmo.2010.02.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20385510" target="_blank">20385510</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9378463">GH treatment induces sustained catch-up growth in children with intrauterine growth retardation: 7-year results.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Albanese A,
|
||
Stanhope R</span><br />
|
||
<span class="medgenPMjournal">Horm Res</span>
|
||
1997;48(4):173-7.
|
||
doi: 10.1159/000185509.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9378463" target="_blank">9378463</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Russell-Silver%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (28)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/14993082">Short stature and functional impairment: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wheeler PG,
|
||
Bresnahan K,
|
||
Shephard BA,
|
||
Lau J,
|
||
Balk EM</span><br />
|
||
<span class="medgenPMjournal">Arch Pediatr Adolesc Med</span>
|
||
2004 Mar;158(3):236-43.
|
||
doi: 10.1001/archpedi.158.3.236.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14993082" target="_blank">14993082</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Russell-Silver%20syndrome%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 (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
|
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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>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
|
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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=C0175693%5bDISCUI%5d&filter=method%3A2%5F15" target="_blank">Methylation analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0175693%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0175693%5bDISCUI%5d&filter=method%3A2%5F20" target="_blank">Uniparental disomy study (UPD) (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0175693%5bDISCUI%5d" target="_blank">See all (6)</a></total></li>
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</ul></div>
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</div>
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS180860" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=813" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Russell-Silver%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
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|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22russell-silver%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Russell-Silver%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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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|
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<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Silver-Russell+syndrome/6606" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/silver_russell_syndrome_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Russell-Silver%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/russell-silver-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/4870/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
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<div class="portlet brieflink">
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<h3>Reviews</h3>
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<div class="portlet_content">
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<ul>
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||
<li>
|
||
<a href="/pubmed/20301499" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Russell-Silver%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
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|
||
<li>
|
||
<a href="/pubmed?term=Russell-Silver%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
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|
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=104492" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0175693[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=104492" ref="log$=recordlinks">MeSH</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=104492" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=104492" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=104492" ref="log$=recordlinks">PubMed (OMIM)</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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Clear
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Turn Off
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Turn On
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ceccd5f4a390645e027751">Russell-Silver syndrome</a>
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<div class="ralinkpop offscreen_noflow">Russell-Silver syndrome<div class="brieflinkpopdesc"></div></div>
|
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67ceccd3a68b6b5afc30e05c">C0175693[conceptid] <span class="number">(1)</span></a>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67ceccd284f3725e59f7be08">C3150941[trait identifier] AND "Institute of Medical Genetics and... <span class="number">(3)</span></a>
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<div class="ralinkpop offscreen_noflow">C3150941[trait identifier] AND "Institute of Medical Genetics and Applied Genomics, University Hospital Tubingen"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67ceccd1f4a390645e025f49">C4551859[trait identifier] AND "Institute of Medical Genetics and... <span class="number">(6)</span></a>
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<div class="ralinkpop offscreen_noflow">C4551859[trait identifier] AND "Institute of Medical Genetics and Applied Genomics, University Hospital Tubingen"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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<li class="ra_qry ralinkpopper two_line">
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67ceccd084f3725e59f7af8c">C0035934[trait identifier] AND "Institute of Medical Genetics and... <span class="number">(2)</span></a>
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<div class="ralinkpop offscreen_noflow">C0035934[trait identifier] AND "Institute of Medical Genetics and Applied Genomics, University Hospital Tubingen"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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