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<meta name="keywords" content="C5393125, chromosome 7-related russell-silver syndrome, disease or syndrome, h19-icr, igf2, silver-russell syndrome 1, srs1, 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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<!--
UID=1718472
ConceptID=C5393125
-->
<!--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">Silver-Russell syndrome 1<span class="h1sub">(SRS1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1718472</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.">C5393125</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>Chromosome 7-Related Russell-Silver Syndrome; SRS1</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">Genes (locations):<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="H19-ICR - ID: 105259599 - NCBI Gene" href="/gene/105259599" class="medgenPMinfo">H19-ICR</a> (11p15.5); <a target="_blank" title="IGF2 - ID: 3481 - NCBI Gene" href="/gene/3481" class="medgenPMinfo">IGF2</a> (11p15.5)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0020796" target="_blank">MONDO:0020796</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>
</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_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 MedlinePlus Genetics</strong><br />Many people with Silver-Russell syndrome have a small, triangular face with distinctive features, including a prominent forehead, a narrow chin, a small jaw, and downturned corners of the mouth. <br /><br />Adults with Silver-Russell syndrome are typically shorter than average and may have an increased risk of developing metabolic problems such as type 2 diabetes (the most common form of diabetes). Affected individuals often have asymmetric or uneven growth of certain parts of the body, such as the arms and legs. Additional skeletal features may include an unusual curving of the fifth finger (clinodactyly), short fingers (brachydactyly), and abnormal curvature of the spine (scoliosis). <br /><br />Affected children often have difficulty feeding. Some children develop recurrent episodes of low blood glucose (hypoglycemia). Gastrointestinal problems, such as vomiting and a backflow of stomach acid into the esophagus (called gastroesophageal reflux or GERD), are also common.<br /><br />Silver-Russell syndrome is a rare disorder that is characterized by slow growth before and after birth. Babies with this condition typically have a low birth weight and often do not grow and gain weight at the expected rate (failure to thrive). Head growth is normal, however, so the head may appear large compared to the rest of the body. In some affected individuals, one side of the body may be bigger than the other.<br /><br />Other features can include the delayed development of motor skills, speech and language problems, and learning disabilities.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/silver-russell-syndrome">https://medlineplus.gov/genetics/condition/silver-russell-syndrome</a></div></div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_41339"><div><strong>Craniopharyngioma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41339</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.">C0010276</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumors that are located within the sellar and para sellar region of the central nervous system.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/41339">Feature record</a> | <a href="/medgen?term=%22Craniopharyngioma%22%5BClinical%20Features%5D%20OR%2041339%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_10221"><div><strong>Nephroblastoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10221</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0027708</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10221">Feature record</a> | <a href="/medgen?term=%22Nephroblastoma%22%5BClinical%20Features%5D%20OR%2010221%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1790467"><div><strong>Testicular seminoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1790467</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.">C5551428</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">The presence of a seminoma, an undifferentiated germ cell tumor of the testis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1790467">Feature record</a> | <a href="/medgen?term=%22Testicular%20seminoma%22%5BClinical%20Features%5D%20OR%201790467%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_451008"><div><strong>Congenital posterior urethral valve</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>451008</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.">C0238506</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A developmental defect resulting in an obstructing membrane in the posterior male urethra.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/451008">Feature record</a> | <a href="/medgen?term=%22Congenital%20posterior%20urethral%20valve%22%5BClinical%20Features%5D%20OR%20451008%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_120573"><div><strong>Urethral valve</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120573</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.">C0266345</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">The presence of an abnormal membrane obstructing the urethra.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/120573">Feature record</a> | <a href="/medgen?term=%22Urethral%20valve%22%5BClinical%20Features%5D%20OR%20120573%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_163083"><div><strong>Hypospadias</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163083</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.">C0848558</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/163083">Feature record</a> | <a href="/medgen?term=%22Hypospadias%22%5BClinical%20Features%5D%20OR%20163083%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_374455"><div><strong>Abnormality of the ureter</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374455</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.">C1840382</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/374455">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20ureter%22%5BClinical%20Features%5D%20OR%20374455%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_52619"><div><strong>Syndactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52619</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.">C0039075</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/52619">Feature record</a> | <a href="/medgen?term=%22Syndactyly%22%5BClinical%20Features%5D%20OR%2052619%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_322335"><div><strong>Short middle phalanx of the 5th finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322335</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.">C1834060</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Hypoplastic/small middle phalanx of the fifth finger.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/322335">Feature record</a> | <a href="/medgen?term=%22Short%20middle%20phalanx%20of%20the%205th%20finger%22%5BClinical%20Features%5D%20OR%20322335%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_373146"><div><strong>Short distal phalanx of the 5th finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373146</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.">C1836674</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Hypoplastic/small distal phalanx of the fifth finger.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/373146">Feature record</a> | <a href="/medgen?term=%22Short%20distal%20phalanx%20of%20the%205th%20finger%22%5BClinical%20Features%5D%20OR%20373146%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_340456"><div><strong>Clinodactyly of the 5th finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340456</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.">C1850049</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/340456">Feature record</a> | <a href="/medgen?term=%22Clinodactyly%20of%20the%205th%20finger%22%5BClinical%20Features%5D%20OR%20340456%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_116727"><div><strong>Abnormality of the cardiovascular system</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116727</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.">C0243050</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Any abnormality of the cardiovascular system.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/116727">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20cardiovascular%20system%22%5BClinical%20Features%5D%20OR%20116727%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_4693"><div><strong>Fetal growth restriction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4693</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.">C0015934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/4693">Feature record</a> | <a href="/medgen?term=%22Fetal%20growth%20restriction%22%5BClinical%20Features%5D%20OR%204693%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_65920"><div><strong>Small for gestational age</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65920</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.">C0235991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/65920">Feature record</a> | <a href="/medgen?term=%22Small%20for%20gestational%20age%22%5BClinical%20Features%5D%20OR%2065920%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_389187"><div><strong>Hepatocellular carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>389187</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.">C2239176</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">Hepatocellular carcinoma is the major histologic type of malignant primary liver neoplasm. It is the fifth most common cancer and the third most common cause of death from cancer worldwide. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. Hepatoblastomas comprise 1 to 2% of all malignant neoplasms of childhood, most often occurring in children under 3 years of age. Hepatoblastomas are thought to be derived from undifferentiated hepatocytes (Taniguchi et al., 2002).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/389187">Feature record</a> | <a href="/medgen?term=%22Hepatocellular%20carcinoma%22%5BClinical%20Features%5D%20OR%20389187%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_44428"><div><strong>Micrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44428</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.">C0025990</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Developmental hypoplasia of the mandible.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/44428">Feature record</a> | <a href="/medgen?term=%22Micrognathia%22%5BClinical%20Features%5D%20OR%2044428%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_67453"><div><strong>Frontal bossing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67453</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.">C0221354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/67453">Feature record</a> | <a href="/medgen?term=%22Frontal%20bossing%22%5BClinical%20Features%5D%20OR%2067453%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_75805"><div><strong>Delayed cranial suture closure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75805</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.">C0277828</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/75805">Feature record</a> | <a href="/medgen?term=%22Delayed%20cranial%20suture%20closure%22%5BClinical%20Features%5D%20OR%2075805%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_108148"><div><strong>Delayed skeletal maturation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108148</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.">C0541764</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/108148">Feature record</a> | <a href="/medgen?term=%22Delayed%20skeletal%20maturation%22%5BClinical%20Features%5D%20OR%20108148%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_75765"><div><strong>Fasting hypoglycemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75765</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.">C0271708</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">HYPOGLYCEMIA expressed in the postabsorptive state, after prolonged FASTING, or an overnight fast.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/75765">Feature record</a> | <a href="/medgen?term=%22Fasting%20hypoglycemia%22%5BClinical%20Features%5D%20OR%2075765%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_324383"><div><strong>Triangular face</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324383</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.">C1835884</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/324383">Feature record</a> | <a href="/medgen?term=%22Triangular%20face%22%5BClinical%20Features%5D%20OR%20324383%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_356471"><div><strong>Downturned corners of mouth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356471</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.">C1866195</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/356471">Feature record</a> | <a href="/medgen?term=%22Downturned%20corners%20of%20mouth%22%5BClinical%20Features%5D%20OR%20356471%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_357916"><div><strong>Craniofacial disproportion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357916</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.">C1867114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/357916">Feature record</a> | <a href="/medgen?term=%22Craniofacial%20disproportion%22%5BClinical%20Features%5D%20OR%20357916%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_113157"><div><strong>Cafe-au-lait spot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113157</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.">C0221263</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/113157">Feature record</a> | <a href="/medgen?term=%22Cafe-au-lait%20spot%22%5BClinical%20Features%5D%20OR%20113157%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_154236"><div><strong>Blue sclerae</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154236</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.">C0542514</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal bluish coloration of the sclera.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/154236">Feature record</a> | <a href="/medgen?term=%22Blue%20sclerae%22%5BClinical%20Features%5D%20OR%20154236%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 head or neck</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_357916" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniofacial disproportion</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_356471" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Downturned corners of mouth</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324383" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Triangular face</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_340456" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clinodactyly of the 5th finger</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373146" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short distal phalanx of the 5th finger</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322335" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short middle phalanx of the 5th finger</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52619" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndactyly</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75765" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fasting hypoglycemia</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_116727" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the cardiovascular system</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_389187" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatocellular carcinoma</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_154236" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blue sclerae</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_374455" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the ureter</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_451008" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital posterior urethral valve</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypospadias</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120573" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Urethral valve</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cafe-au-lait spot</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_75805" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed cranial suture closure</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108148" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed skeletal maturation</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontal bossing</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micrognathia</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_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal growth restriction</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65920" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Small for gestational age</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_41339" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniopharyngioma</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10221" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephroblastoma</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1790467" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Testicular seminoma</a></span></li></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0175693[DISCUI]&amp;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&amp;from_uid=104492" ref="ncbi_uid=104492">V</a></span></span><span class="TLline"><a href="/medgen/104492" ref="tree=GTR&amp;ncbi_uid=104492&amp;link_uid=104492" title="View MedGen record for 'Russell-Silver syndrome'">Russell-Silver syndrome</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5393125[DISCUI]&amp;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&amp;from_uid=1718472" ref="ncbi_uid=1718472">V</a></span></span><span class="TLline">Silver-Russell syndrome 1</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]&amp;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&amp;ncbi_uid=1826102&amp;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&amp;ncbi_uid=1714148&amp;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]&amp;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&amp;from_uid=894912" ref="ncbi_uid=894912">V</a></span></span><span class="TLline"><a href="/medgen/894912" ref="tree=GTR&amp;ncbi_uid=894912&amp;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&amp;from_uid=1712866" ref="ncbi_uid=1712866">V</a></span></span><span class="TLline"><a href="/medgen/1712866" ref="tree=GTR&amp;ncbi_uid=1712866&amp;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&amp;from_uid=1713787" ref="ncbi_uid=1713787">V</a></span></span><span class="TLline"><a href="/medgen/1713787" ref="tree=GTR&amp;ncbi_uid=1713787&amp;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="TLline"><a href="/medgen/104492" ref="tree=MeSH" title="MedGen record for Russell-Silver syndrome">Russell-Silver syndrome</a></span><ul><li><span class="matched_ds">Silver-Russell syndrome 1</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></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/39586716">Rare Causes and Differential Diagnosis in Patients With Silver-Russell Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Braga BL,
da Cunha Scalco R,
Homma TK,
Freire BL,
Cellin LP,
Canton APM,
Lerario AM,
de Assis Funari MF,
de Souza V,
Bertola DR,
Malaquias AC,
Mendonca BB,
de Lima Jorge AA</span><br />
<span class="medgenPMjournal">Clin Genet</span>
2025 Apr;107(4):441-445.
Epub 2024 Nov 25
doi: 10.1111/cge.14659.
<span class="bold">PMID: </span><a href="/pubmed/39586716" target="_blank">39586716</a></div>
<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/20573229">Silver-Russell syndrome: genetic basis and molecular genetic testing.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Eggermann T,
Begemann M,
Binder G,
Spengler S</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2010 Jun 23;5:19.
doi: 10.1186/1750-1172-5-19.
<span class="bold">PMID: </span><a href="/pubmed/20573229" target="_blank">20573229</a><a href="/pmc/articles/PMC2907323" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(silver-russell%20syndrome%201)%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 (24)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></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/33378609">Efficacy and Safety of the mRNA-1273 SARS-CoV-2 Vaccine.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baden LR,
El Sahly HM,
Essink B,
Kotloff K,
Frey S,
Novak R,
Diemert D,
Spector SA,
Rouphael N,
Creech CB,
McGettigan J,
Khetan S,
Segall N,
Solis J,
Brosz A,
Fierro C,
Schwartz H,
Neuzil K,
Corey L,
Gilbert P,
Janes H,
Follmann D,
Marovich M,
Mascola J,
Polakowski L,
Ledgerwood J,
Graham BS,
Bennett H,
Pajon R,
Knightly C,
Leav B,
Deng W,
Zhou H,
Han S,
Ivarsson M,
Miller J,
Zaks T;
COVE Study Group</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2021 Feb 4;384(5):403-416.
Epub 2020 Dec 30
doi: 10.1056/NEJMoa2035389.
<span class="bold">PMID: </span><a href="/pubmed/33378609" target="_blank">33378609</a><a href="/pmc/articles/PMC7787219" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<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/26039521">Ezetimibe Added to Statin Therapy after Acute Coronary Syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cannon CP,
Blazing MA,
Giugliano RP,
McCagg A,
White JA,
Theroux P,
Darius H,
Lewis BS,
Ophuis TO,
Jukema JW,
De Ferrari GM,
Ruzyllo W,
De Lucca P,
Im K,
Bohula EA,
Reist C,
Wiviott SD,
Tershakovec AM,
Musliner TA,
Braunwald E,
Califf RM;
IMPROVE-IT Investigators</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2015 Jun 18;372(25):2387-97.
Epub 2015 Jun 3
doi: 10.1056/NEJMoa1410489.
<span class="bold">PMID: </span><a href="/pubmed/26039521" target="_blank">26039521</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/19717846">Ticagrelor versus clopidogrel in patients with acute coronary syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wallentin L,
Becker RC,
Budaj A,
Cannon CP,
Emanuelsson H,
Held C,
Horrow J,
Husted S,
James S,
Katus H,
Mahaffey KW,
Scirica BM,
Skene A,
Steg PG,
Storey RF,
Harrington RA;
PLATO Investigators,
Freij A,
Thorsén M</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2009 Sep 10;361(11):1045-57.
Epub 2009 Aug 30
doi: 10.1056/NEJMoa0904327.
<span class="bold">PMID: </span><a href="/pubmed/19717846" target="_blank">19717846</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Silver-Russell%20syndrome%201%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 (123)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/33378609">Efficacy and Safety of the mRNA-1273 SARS-CoV-2 Vaccine.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baden LR,
El Sahly HM,
Essink B,
Kotloff K,
Frey S,
Novak R,
Diemert D,
Spector SA,
Rouphael N,
Creech CB,
McGettigan J,
Khetan S,
Segall N,
Solis J,
Brosz A,
Fierro C,
Schwartz H,
Neuzil K,
Corey L,
Gilbert P,
Janes H,
Follmann D,
Marovich M,
Mascola J,
Polakowski L,
Ledgerwood J,
Graham BS,
Bennett H,
Pajon R,
Knightly C,
Leav B,
Deng W,
Zhou H,
Han S,
Ivarsson M,
Miller J,
Zaks T;
COVE Study Group</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2021 Feb 4;384(5):403-416.
Epub 2020 Dec 30
doi: 10.1056/NEJMoa2035389.
<span class="bold">PMID: </span><a href="/pubmed/33378609" target="_blank">33378609</a><a href="/pmc/articles/PMC7787219" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<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/21396582">Silver-Russell syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Binder G,
Begemann M,
Eggermann T,
Kannenberg K</span><br />
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
2011 Feb;25(1):153-60.
doi: 10.1016/j.beem.2010.06.005.
<span class="bold">PMID: </span><a href="/pubmed/21396582" target="_blank">21396582</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21349887">Silver-Russell syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wakeling EL</span><br />
<span class="medgenPMjournal">Arch Dis Child</span>
2011 Dec;96(12):1156-61.
Epub 2011 Feb 24
doi: 10.1136/adc.2010.190165.
<span class="bold">PMID: </span><a href="/pubmed/21349887" target="_blank">21349887</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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Silver-Russell%20syndrome%201%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 (163)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/33378609">Efficacy and Safety of the mRNA-1273 SARS-CoV-2 Vaccine.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baden LR,
El Sahly HM,
Essink B,
Kotloff K,
Frey S,
Novak R,
Diemert D,
Spector SA,
Rouphael N,
Creech CB,
McGettigan J,
Khetan S,
Segall N,
Solis J,
Brosz A,
Fierro C,
Schwartz H,
Neuzil K,
Corey L,
Gilbert P,
Janes H,
Follmann D,
Marovich M,
Mascola J,
Polakowski L,
Ledgerwood J,
Graham BS,
Bennett H,
Pajon R,
Knightly C,
Leav B,
Deng W,
Zhou H,
Han S,
Ivarsson M,
Miller J,
Zaks T;
COVE Study Group</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2021 Feb 4;384(5):403-416.
Epub 2020 Dec 30
doi: 10.1056/NEJMoa2035389.
<span class="bold">PMID: </span><a href="/pubmed/33378609" target="_blank">33378609</a><a href="/pmc/articles/PMC7787219" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<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/26192873">Initiation of Antiretroviral Therapy in Early Asymptomatic HIV Infection.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">INSIGHT START Study Group,
Lundgren JD,
Babiker AG,
Gordin F,
Emery S,
Grund B,
Sharma S,
Avihingsanon A,
Cooper DA,
Fätkenheuer G,
Llibre JM,
Molina JM,
Munderi P,
Schechter M,
Wood R,
Klingman KL,
Collins S,
Lane HC,
Phillips AN,
Neaton JD</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2015 Aug 27;373(9):795-807.
Epub 2015 Jul 20
doi: 10.1056/NEJMoa1506816.
<span class="bold">PMID: </span><a href="/pubmed/26192873" target="_blank">26192873</a><a href="/pmc/articles/PMC4569751" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26039521">Ezetimibe Added to Statin Therapy after Acute Coronary Syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cannon CP,
Blazing MA,
Giugliano RP,
McCagg A,
White JA,
Theroux P,
Darius H,
Lewis BS,
Ophuis TO,
Jukema JW,
De Ferrari GM,
Ruzyllo W,
De Lucca P,
Im K,
Bohula EA,
Reist C,
Wiviott SD,
Tershakovec AM,
Musliner TA,
Braunwald E,
Califf RM;
IMPROVE-IT Investigators</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2015 Jun 18;372(25):2387-97.
Epub 2015 Jun 3
doi: 10.1056/NEJMoa1410489.
<span class="bold">PMID: </span><a href="/pubmed/26039521" target="_blank">26039521</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19717846">Ticagrelor versus clopidogrel in patients with acute coronary syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wallentin L,
Becker RC,
Budaj A,
Cannon CP,
Emanuelsson H,
Held C,
Horrow J,
Husted S,
James S,
Katus H,
Mahaffey KW,
Scirica BM,
Skene A,
Steg PG,
Storey RF,
Harrington RA;
PLATO Investigators,
Freij A,
Thorsén M</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2009 Sep 10;361(11):1045-57.
Epub 2009 Aug 30
doi: 10.1056/NEJMoa0904327.
<span class="bold">PMID: </span><a href="/pubmed/19717846" target="_blank">19717846</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Silver-Russell%20syndrome%201%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 (62)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/34551225">Efficacy of the mRNA-1273 SARS-CoV-2 Vaccine at Completion of Blinded Phase.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">El Sahly HM,
Baden LR,
Essink B,
Doblecki-Lewis S,
Martin JM,
Anderson EJ,
Campbell TB,
Clark J,
Jackson LA,
Fichtenbaum CJ,
Zervos M,
Rankin B,
Eder F,
Feldman G,
Kennelly C,
Han-Conrad L,
Levin M,
Neuzil KM,
Corey L,
Gilbert P,
Janes H,
Follmann D,
Marovich M,
Polakowski L,
Mascola JR,
Ledgerwood JE,
Graham BS,
August A,
Clouting H,
Deng W,
Han S,
Leav B,
Manzo D,
Pajon R,
Schödel F,
Tomassini JE,
Zhou H,
Miller J;
COVE Study Group</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2021 Nov 4;385(19):1774-1785.
Epub 2021 Sep 22
doi: 10.1056/NEJMoa2113017.
<span class="bold">PMID: </span><a href="/pubmed/34551225" target="_blank">34551225</a><a href="/pmc/articles/PMC8482810" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33378609">Efficacy and Safety of the mRNA-1273 SARS-CoV-2 Vaccine.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baden LR,
El Sahly HM,
Essink B,
Kotloff K,
Frey S,
Novak R,
Diemert D,
Spector SA,
Rouphael N,
Creech CB,
McGettigan J,
Khetan S,
Segall N,
Solis J,
Brosz A,
Fierro C,
Schwartz H,
Neuzil K,
Corey L,
Gilbert P,
Janes H,
Follmann D,
Marovich M,
Mascola J,
Polakowski L,
Ledgerwood J,
Graham BS,
Bennett H,
Pajon R,
Knightly C,
Leav B,
Deng W,
Zhou H,
Han S,
Ivarsson M,
Miller J,
Zaks T;
COVE Study Group</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2021 Feb 4;384(5):403-416.
Epub 2020 Dec 30
doi: 10.1056/NEJMoa2035389.
<span class="bold">PMID: </span><a href="/pubmed/33378609" target="_blank">33378609</a><a href="/pmc/articles/PMC7787219" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31544945">IGF2 Mutations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Masunaga Y,
Inoue T,
Yamoto K,
Fujisawa Y,
Sato Y,
Kawashima-Sonoyama Y,
Morisada N,
Iijima K,
Ohata Y,
Namba N,
Suzumura H,
Kuribayashi R,
Yamaguchi Y,
Yoshihashi H,
Fukami M,
Saitsu H,
Kagami M,
Ogata T</span><br />
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
2020 Jan 1;105(1)
doi: 10.1210/clinem/dgz034.
<span class="bold">PMID: </span><a href="/pubmed/31544945" target="_blank">31544945</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26192873">Initiation of Antiretroviral Therapy in Early Asymptomatic HIV Infection.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">INSIGHT START Study Group,
Lundgren JD,
Babiker AG,
Gordin F,
Emery S,
Grund B,
Sharma S,
Avihingsanon A,
Cooper DA,
Fätkenheuer G,
Llibre JM,
Molina JM,
Munderi P,
Schechter M,
Wood R,
Klingman KL,
Collins S,
Lane HC,
Phillips AN,
Neaton JD</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2015 Aug 27;373(9):795-807.
Epub 2015 Jul 20
doi: 10.1056/NEJMoa1506816.
<span class="bold">PMID: </span><a href="/pubmed/26192873" target="_blank">26192873</a><a href="/pmc/articles/PMC4569751" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21349887">Silver-Russell syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wakeling EL</span><br />
<span class="medgenPMjournal">Arch Dis Child</span>
2011 Dec;96(12):1156-61.
Epub 2011 Feb 24
doi: 10.1136/adc.2010.190165.
<span class="bold">PMID: </span><a href="/pubmed/21349887" target="_blank">21349887</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Silver-Russell%20syndrome%201%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 (53)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/34910859">Efficacy and Safety of NVX-CoV2373 in Adults in the United States and Mexico.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dunkle LM,
Kotloff KL,
Gay CL,
Áñez G,
Adelglass JM,
Barrat Hernández AQ,
Harper WL,
Duncanson DM,
McArthur MA,
Florescu DF,
McClelland RS,
Garcia-Fragoso V,
Riesenberg RA,
Musante DB,
Fried DL,
Safirstein BE,
McKenzie M,
Jeanfreau RJ,
Kingsley JK,
Henderson JA,
Lane DC,
Ruíz-Palacios GM,
Corey L,
Neuzil KM,
Coombs RW,
Greninger AL,
Hutter J,
Ake JA,
Smith K,
Woo W,
Cho I,
Glenn GM,
Dubovsky F;
2019nCoV-301 Study Group</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2022 Feb 10;386(6):531-543.
Epub 2021 Dec 15
doi: 10.1056/NEJMoa2116185.
<span class="bold">PMID: </span><a href="/pubmed/34910859" target="_blank">34910859</a><a href="/pmc/articles/PMC8693692" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33378609">Efficacy and Safety of the mRNA-1273 SARS-CoV-2 Vaccine.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baden LR,
El Sahly HM,
Essink B,
Kotloff K,
Frey S,
Novak R,
Diemert D,
Spector SA,
Rouphael N,
Creech CB,
McGettigan J,
Khetan S,
Segall N,
Solis J,
Brosz A,
Fierro C,
Schwartz H,
Neuzil K,
Corey L,
Gilbert P,
Janes H,
Follmann D,
Marovich M,
Mascola J,
Polakowski L,
Ledgerwood J,
Graham BS,
Bennett H,
Pajon R,
Knightly C,
Leav B,
Deng W,
Zhou H,
Han S,
Ivarsson M,
Miller J,
Zaks T;
COVE Study Group</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2021 Feb 4;384(5):403-416.
Epub 2020 Dec 30
doi: 10.1056/NEJMoa2035389.
<span class="bold">PMID: </span><a href="/pubmed/33378609" target="_blank">33378609</a><a href="/pmc/articles/PMC7787219" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31544945">IGF2 Mutations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Masunaga Y,
Inoue T,
Yamoto K,
Fujisawa Y,
Sato Y,
Kawashima-Sonoyama Y,
Morisada N,
Iijima K,
Ohata Y,
Namba N,
Suzumura H,
Kuribayashi R,
Yamaguchi Y,
Yoshihashi H,
Fukami M,
Saitsu H,
Kagami M,
Ogata T</span><br />
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
2020 Jan 1;105(1)
doi: 10.1210/clinem/dgz034.
<span class="bold">PMID: </span><a href="/pubmed/31544945" target="_blank">31544945</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21396582">Silver-Russell syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Binder G,
Begemann M,
Eggermann T,
Kannenberg K</span><br />
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
2011 Feb;25(1):153-60.
doi: 10.1016/j.beem.2010.06.005.
<span class="bold">PMID: </span><a href="/pubmed/21396582" target="_blank">21396582</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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Silver-Russell%20syndrome%201%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 (110)</a></div></div>
</div>
<div class="portlet mgSection" id="ID_104">
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<div class="nl"><a target="_blank" href="/pubmed/35293298">Clinical and Molecular Heterogeneity of Silver-Russell Syndrome and Therapeutic Challenges: A Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Singh A,
Pajni K,
Panigrahi I,
Khetarpal P</span><br />
<span class="medgenPMjournal">Curr Pediatr Rev</span>
2023;19(2):157-168.
doi: 10.2174/1573396318666220315142542.
<span class="bold">PMID: </span><a href="/pubmed/35293298" target="_blank">35293298</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29696471">Comprehensive meta-analysis reveals association between multiple imprinting disorders and conception by assisted reproductive technology.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cortessis VK,
Azadian M,
Buxbaum J,
Sanogo F,
Song AY,
Sriprasert I,
Wei PC,
Yu J,
Chung K,
Siegmund KD</span><br />
<span class="medgenPMjournal">J Assist Reprod Genet</span>
2018 Jun;35(6):943-952.
Epub 2018 Apr 25
doi: 10.1007/s10815-018-1173-x.
<span class="bold">PMID: </span><a href="/pubmed/29696471" target="_blank">29696471</a><a href="/pmc/articles/PMC6030010" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Silver-Russell%20syndrome%201%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 (2)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5393125%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (10)</a></li>
<li><a href="/gtr/tests?term=C5393125%5bDISCUI%5d&amp;filter=method%3A2%5F13" target="_blank">Linkage analysis (1)</a></li>
<li><a href="/gtr/tests?term=C5393125%5bDISCUI%5d&amp;filter=method%3A2%5F15" target="_blank">Methylation analysis (16)</a></li>
<li><a href="/gtr/tests?term=C5393125%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
<li><a href="/gtr/tests?term=C5393125%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
<li><a href="/gtr/tests?term=C5393125%5bDISCUI%5d&amp;filter=method%3A2%5F20" target="_blank">Uniparental disomy study (UPD) (7)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5393125%5bDISCUI%5d" target="_blank">See all (30)</a></total></li>
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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=(silver-russell%20syndrome%201)%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><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="/pmc/articles/PMC3061987/">EuroGenetest, 2011</a><div>Clinical utility gene card for: Silver-Russell syndrome</div></li></ul></div>
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