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<meta name="keywords" content="C4225307, disease or syndrome, grdf, growth restriction, severe, with distinctive facies, igf2, silver-russell syndrome 3, srs3, 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-3 (SRS3) is characterized by intrauterine growth retardation with relative macrocephaly, followed by feeding difficulties and postnatal growth restriction. Dysmorphic facial features include triangular face, prominent forehead, and low-set ears. Other variable features include limb defects, genitourinary and cardiovascular anomalies, hearing impairment, and developmental delay (Begemann et al., 2015; Yamoto et al., 2017).&#13; For a discussion of genetic heterogeneity of Silver-Russell syndrome, see SRS1 (180860)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=894912
ConceptID=C4225307
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Silver-Russell syndrome 3<span class="h1sub">(SRS3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>894912</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C4225307</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>Growth restriction, severe, with distinctive facies; SRS3</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
Gene(s) directly associated with<br />
this condition or phenotype.</div></td>
<td><a target="_blank" title="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:0014663" target="_blank">MONDO:0014663</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/616489" target="_blank">616489</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Silver-Russell syndrome-3 (SRS3) is characterized by intrauterine growth retardation with relative macrocephaly, followed by feeding difficulties and postnatal growth restriction. Dysmorphic facial features include triangular face, prominent forehead, and low-set ears. Other variable features include limb defects, genitourinary and cardiovascular anomalies, hearing impairment, and developmental delay (Begemann et al., 2015; Yamoto et al., 2017).&#13; For a discussion of genetic heterogeneity of Silver-Russell syndrome, see SRS1 (180860). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</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_78596"><div><strong>Ambiguous genitalia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78596</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.">C0266362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/78596">Feature record</a> | <a href="/medgen?term=%22Ambiguous%20genitalia%22%5BClinical%20Features%5D%20OR%2078596%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_98467"><div><strong>Unilateral cryptorchidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98467</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.">C0431664</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98467">Feature record</a> | <a href="/medgen?term=%22Unilateral%20cryptorchidism%22%5BClinical%20Features%5D%20OR%2098467%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_105291"><div><strong>Penoscrotal hypospadias</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105291</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.">C0452147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/105291">Feature record</a> | <a href="/medgen?term=%22Penoscrotal%20hypospadias%22%5BClinical%20Features%5D%20OR%20105291%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_108279"><div><strong>Small hand</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108279</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.">C0575802</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Disproportionately small hand.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/108279">Feature record</a> | <a href="/medgen?term=%22Small%20hand%22%5BClinical%20Features%5D%20OR%20108279%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_4415"><div><strong>Patent ductus arteriosus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4415</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.">C0013274</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/4415">Feature record</a> | <a href="/medgen?term=%22Patent%20ductus%20arteriosus%22%5BClinical%20Features%5D%20OR%204415%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_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_395343"><div><strong>Postnatal growth retardation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395343</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.">C1859778</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Slow or limited growth after birth.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/395343">Feature record</a> | <a href="/medgen?term=%22Postnatal%20growth%20retardation%22%5BClinical%20Features%5D%20OR%20395343%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1806755"><div><strong>Decreased body weight</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1806755</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.">C5574742</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Abnormally low body weight.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1806755">Feature record</a> | <a href="/medgen?term=%22Decreased%20body%20weight%22%5BClinical%20Features%5D%20OR%201806755%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_65429"><div><strong>Feeding difficulties</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65429</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.">C0232466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/65429">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%22%5BClinical%20Features%5D%20OR%2065429%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_65980"><div><strong>Low-set ears</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65980</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0239234</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/65980">Feature record</a> | <a href="/medgen?term=%22Low-set%20ears%22%5BClinical%20Features%5D%20OR%2065980%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_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_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1854301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_19766"><div><strong>Retrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19766</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.">C0035353</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">An abnormality in which the mandible is mislocalised posteriorly.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/19766">Feature record</a> | <a href="/medgen?term=%22Retrognathia%22%5BClinical%20Features%5D%20OR%2019766%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_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_331445"><div><strong>Elbow contracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331445</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.">C1833142</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/331445">Feature record</a> | <a href="/medgen?term=%22Elbow%20contracture%22%5BClinical%20Features%5D%20OR%20331445%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_338607"><div><strong>Relative macrocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338607</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1849075</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/338607">Feature record</a> | <a href="/medgen?term=%22Relative%20macrocephaly%22%5BClinical%20Features%5D%20OR%20338607%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_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_373291"><div><strong>Prominent forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373291</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.">C1837260</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Forward prominence of the entire forehead, due to protrusion of the frontal bone.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/373291">Feature record</a> | <a href="/medgen?term=%22Prominent%20forehead%22%5BClinical%20Features%5D%20OR%20373291%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_14364"><div><strong>Melanocytic nevus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14364</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.">C0027962</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/14364">Feature record</a> | <a href="/medgen?term=%22Melanocytic%20nevus%22%5BClinical%20Features%5D%20OR%2014364%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_401231"><div><strong>Antecubital pterygium syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401231</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.">C1867439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Antecubital pterygium syndrome is an autosomal dominant disorder characterized by a fleshy web extending across the anterior aspect of the cubital fossa, absence of the long head of the triceps, limitation of full elbow extension, and missing skin creases over the terminal interphalangeal joints of the fingers (summary by Wallis et al., 1988).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/401231">Feature record</a> | <a href="/medgen?term=%22Antecubital%20pterygium%20syndrome%22%5BClinical%20Features%5D%20OR%20401231%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_86974"><div><strong>Oligohydramnios</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>86974</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.">C0079924</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">Diminished amniotic fluid volume in pregnancy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/86974">Feature record</a> | <a href="/medgen?term=%22Oligohydramnios%22%5BClinical%20Features%5D%20OR%2086974%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_373291" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prominent forehead</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_108279" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Small hand</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 prenatal development or birth</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_86974" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oligohydramnios</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_4415" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Patent ductus arteriosus</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_65429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties</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_78596" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ambiguous genitalia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105291" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Penoscrotal hypospadias</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98467" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Unilateral cryptorchidism</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_401231" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Antecubital pterygium syndrome</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14364" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Melanocytic nevus</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_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_331445" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elbow contracture</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_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_338607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Relative macrocephaly</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retrognathia</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><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low-set ears</a></span></li></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_1806755" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased body weight</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_395343" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Postnatal growth retardation</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li><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></ul></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></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="TLclosed"><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"><a href="/medgen/1718472" ref="tree=GTR&amp;ncbi_uid=1718472&amp;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]&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="matched_ds"><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">Silver-Russell syndrome 3</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 3</span></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/25700540">Prevalence and management of gastrointestinal manifestations in Silver-Russell syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Marsaud C,
Rossignol S,
Tounian P,
Netchine I,
Dubern B</span><br />
<span class="medgenPMjournal">Arch Dis Child</span>
2015 Apr;100(4):353-8.
Epub 2014 Nov 18
doi: 10.1136/archdischild-2013-305864.
<span class="bold">PMID: </span><a href="/pubmed/25700540" target="_blank">25700540</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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(silver-russell%20syndrome%203)%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 (20)</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/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/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%203%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 (92)</a></div><h3 class="subhead">Diagnosis</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/27275769">Zespół Silvera-Rusella. Część II.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kalina MA,
Tańska A,
Marczak-Hałupka A,
Chrzanowska KH</span><br />
<span class="medgenPMjournal">Pediatr Endocrinol Diabetes Metab</span>
2016 Jun 8;21(3):132-42.
doi: 10.18544/PEDM-21.03.0035.
<span class="bold">PMID: </span><a href="/pubmed/27275769" target="_blank">27275769</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/20305090">Epigenetic signatures of Silver-Russell syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Abu-Amero S,
Wakeling EL,
Preece M,
Whittaker J,
Stanier P,
Moore GE</span><br />
<span class="medgenPMjournal">J Med Genet</span>
2010 Mar;47(3):150-4.
doi: 10.1136/jmg.2009.071316.
<span class="bold">PMID: </span><a href="/pubmed/20305090" target="_blank">20305090</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Silver-Russell%20syndrome%203%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 (110)</a></div><h3 class="subhead">Therapy</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/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%203%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 (56)</a></div><h3 class="subhead">Prognosis</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/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/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/26101195">Pure Choriocarcinoma of the Ovary in Silver-Russell Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Haruma T,
Ogawa C,
Nishida T,
Kusumoto T,
Nakamura K,
Seki N,
Katayama T,
Hiramatsu Y</span><br />
<span class="medgenPMjournal">Acta Med Okayama</span>
2015;69(3):183-8.
doi: 10.18926/AMO/53526.
<span class="bold">PMID: </span><a href="/pubmed/26101195" target="_blank">26101195</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Silver-Russell%20syndrome%203%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 (46)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38888172">Approach to the Patient With Suspected Silver-Russell Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kurup U,
Lim DBN,
Palau H,
Maharaj AV,
Ishida M,
Davies JH,
Storr HL</span><br />
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
2024 Sep 16;109(10):e1889-e1901.
doi: 10.1210/clinem/dgae423.
<span class="bold">PMID: </span><a href="/pubmed/38888172" target="_blank">38888172</a><a href="/pmc/articles/PMC11403326" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<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/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/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%203%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 (85)</a></div></div>
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<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/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 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=%22Silver-Russell%20syndrome%203%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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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet mgSection" id="ID_113">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
<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=C4225307%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
<li><a href="/gtr/tests?term=C4225307%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4225307%5bDISCUI%5d" target="_blank">See all (6)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=616489" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Silver-Russell%20syndrome%203" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(silver-russell%20syndrome%203)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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