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<meta name="keywords" content="C0004903, beckwith wiedemann syndrome, beckwith's syndrome, beckwith-wiedemann syndrome, beckwith-wiedemann syndrome chromosome region, bws, cdkn1c, disease or syndrome, emg syndrome, emg syndromes, exomphalos macroglossia gigantism syndrome, exomphalos-macroglossia-gigantism syndrome, exomphalos-macroglossia-gigantism syndromes, h19-icr, igf2, kcnq1, kcnq1ot1, syndrome, beckwith-wiedemann, syndrome, emg, syndrome, exomphalos-macroglossia-gigantism, syndrome, wiedemann, syndrome, wiedemann-beckwith, syndrome, wiedemann-beckwith (wbs), wbs, wiedemann beckwith syndrome, wiedemann beckwith syndrome (wbs), wiedemann syndrome, wiedemann syndromes, wiedemann-beckwith syndrome, wiedemann-beckwith syndrome (wbs), wiedemann-beckwith syndromes (wbs), 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="Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by macroglossia, hemihyperplasia, omphalocele, neonatal hypoglycemia, macrosomia, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, kidney abnormalities (e.g., medullary dysplasia, nephrocalcinosis, and medullary sponge kidney), and ear creases / posterior helical ear pits. BWS is considered a clinical spectrum, in which affected individuals may have many or only one or two of the characteristic clinical features. Although most individuals with BWS show rapid growth in late fetal development and early childhood, growth rate usually slows by age seven to eight years. Adult heights are typically within the normal range. Hemihyperplasia (also known as lateralized overgrowth) is often appreciated at birth and may become more or less evident over time. Hemihyperplasia may affect segmental regions of the body or selected organs and tissues. Hemihyperplasia may be limited to one side of the body (ipsilateral) or involve opposite sides of the body (contralateral). Macroglossia is generally present at birth and can obstruct breathing or interfere with feeding in infants. Neonatal hypoglycemia occurs in approximately 50% of infants with BWS; most episodes are mild and transient. However, in some cases, persistent hypoglycemia due to hyperinsulinism may require consultation with an endocrinologist for therapeutic intervention. With respect to the increased risk for embryonal tumor development, the risk for Wilms tumor appears to be concentrated in the first seven years of life, whereas the risk for developing hepatoblastoma is concentrated in the first three to four years of life. Cognitive and neurobehavioral development is usually normal. After childhood, prognosis is generally favorable, although some adults experience issues requiring medical management (e.g., for renal or skeletal concerns)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=2562
|
||
ConceptID=C0004903
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-->
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<!--imgCountBooks = 3--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (3)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1394/bin/bws-Image001.gif" src-large="/books/NBK1394/bin/bws-Image001.jpg" /></a><br /><a href="/books/NBK1394/figure/bws.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1394/bin/bws-Image002.gif" src-large="/books/NBK1394/bin/bws-Image002.jpg" /></a><br /><a href="/books/NBK1394/figure/bws.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1394/bin/bws-Image003.gif" src-large="/books/NBK1394/bin/bws-Image003.jpg" /></a><br /><a href="/books/NBK1394/figure/bws.F3/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Beckwith-Wiedemann syndrome<span class="h1sub">(BWS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2562</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0004903</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>BWS; EMG SYNDROME; Exomphalos macroglossia gigantism syndrome</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Beckwith's syndrome (81780002); Beckwith-Wiedemann syndrome (81780002); Wiedemann-Beckwith syndrome (81780002); Exomphalos-macroglossia-gigantism syndrome (81780002)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="divPopper rprt" id="moi_989040"><div><strong>Unknown inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>989040</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307042</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">Hereditary clinical entity whose mode of inheritance is unknown.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/989040">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_989040" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Unknown inheritance</a><span> (Orphanet)</span></div></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="CDKN1C - ID: 1028 - NCBI Gene" href="/gene/1028" class="medgenPMinfo">CDKN1C</a> (11p15.4); <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); <a target="_blank" title="KCNQ1 - ID: 3784 - NCBI Gene" href="/gene/3784" class="medgenPMinfo">KCNQ1</a> (11p15.5-15.4); <a target="_blank" title="KCNQ1OT1 - ID: 10984 - NCBI Gene" href="/gene/10984" class="medgenPMinfo">KCNQ1OT1</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:0007534" target="_blank">MONDO:0007534</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/130650" target="_blank">130650</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=116">ORPHA116</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>
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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">Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by macroglossia, hemihyperplasia, omphalocele, neonatal hypoglycemia, macrosomia, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, kidney abnormalities (e.g., medullary dysplasia, nephrocalcinosis, and medullary sponge kidney), and ear creases / posterior helical ear pits. BWS is considered a clinical spectrum, in which affected individuals may have many or only one or two of the characteristic clinical features. Although most individuals with BWS show rapid growth in late fetal development and early childhood, growth rate usually slows by age seven to eight years. Adult heights are typically within the normal range. Hemihyperplasia (also known as lateralized overgrowth) is often appreciated at birth and may become more or less evident over time. Hemihyperplasia may affect segmental regions of the body or selected organs and tissues. Hemihyperplasia may be limited to one side of the body (ipsilateral) or involve opposite sides of the body (contralateral). Macroglossia is generally present at birth and can obstruct breathing or interfere with feeding in infants. Neonatal hypoglycemia occurs in approximately 50% of infants with BWS; most episodes are mild and transient. However, in some cases, persistent hypoglycemia due to hyperinsulinism may require consultation with an endocrinologist for therapeutic intervention. With respect to the increased risk for embryonal tumor development, the risk for Wilms tumor appears to be concentrated in the first seven years of life, whereas the risk for developing hepatoblastoma is concentrated in the first three to four years of life. Cognitive and neurobehavioral development is usually normal. After childhood, prognosis is generally favorable, although some adults experience issues requiring medical management (e.g., for renal or skeletal concerns). [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010).
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Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder. <a target="_blank" href="http://www.omim.org/entry/130650">http://www.omim.org/entry/130650</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are larger than normal (macrosomia), and some may be taller than their peers during childhood. Growth begins to slow by about age 8, and adults with this condition are not unusually tall. In some children with Beckwith-Wiedemann syndrome, specific body parts may grow abnormally large on one side of the body, leading to an asymmetric or uneven appearance. This unusual growth pattern, which is known as hemihyperplasia, usually becomes less apparent over time.<br /><br />The signs and symptoms of Beckwith-Wiedemann syndrome vary among affected individuals. Some children with this condition are born with an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the belly-button. Other abdominal wall defects, such as a soft out-pouching around the belly-button (an umbilical hernia), are also common. Some infants with Beckwith-Wiedemann syndrome have an abnormally large tongue (macroglossia), which may interfere with breathing, swallowing, and speaking. Other major features of this condition include abnormally large abdominal organs (visceromegaly), creases or pits in the skin near the ears, low blood glucose (hypoglycemia) in infancy, and kidney abnormalities.<br /><br />Children with Beckwith-Wiedemann syndrome are at an increased risk of developing several types of cancerous and noncancerous tumors, particularly a form of kidney cancer called Wilms tumor and a form of liver cancer called hepatoblastoma. Tumors develop in about 10 percent of people with this condition and almost always appear in childhood.<br /><br />Most children and adults with Beckwith-Wiedemann syndrome do not have serious medical problems associated with the condition. Their life expectancy is usually normal. <a target="_blank" href="https://medlineplus.gov/genetics/condition/beckwith-wiedemann-syndrome">https://medlineplus.gov/genetics/condition/beckwith-wiedemann-syndrome</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_102">
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<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>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<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) Click for more information.">C0027708</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.</div>
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<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>
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||
<div class="divPopper rprt" id="clin_61644"><div><strong>Hepatoblastoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61644</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0206624</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/61644">Feature record</a> | <a href="/medgen?term=%22Hepatoblastoma%22%5BClinical%20Features%5D%20OR%2061644%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_104912"><div><strong>Gonadoblastoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>104912</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0206661</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/104912">Feature record</a> | <a href="/medgen?term=%22Gonadoblastoma%22%5BClinical%20Features%5D%20OR%20104912%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_104917"><div><strong>Adrenal cortex carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>104917</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0206686</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/104917">Feature record</a> | <a href="/medgen?term=%22Adrenal%20cortex%20carcinoma%22%5BClinical%20Features%5D%20OR%20104917%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_8192"><div><strong>Cryptorchidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8192</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0010417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/8192">Feature record</a> | <a href="/medgen?term=%22Cryptorchidism%22%5BClinical%20Features%5D%20OR%208192%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_10222"><div><strong>Nephrocalcinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10222</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0027709</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/10222">Feature record</a> | <a href="/medgen?term=%22Nephrocalcinosis%22%5BClinical%20Features%5D%20OR%2010222%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_21852"><div><strong>Vesicoureteral reflux</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21852</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0042580</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy (RN). Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, and renal insufficiency (summary by Lu et al., 2007). Genetic Heterogeneity of Vesicoureteral Reflux A locus designated VUR1 maps to chromosome 1p13. VUR2 (610878) is caused by mutation in the ROBO2 gene (602431) on chromosome 3p12; VUR3 (613674) is caused by mutation in the SOX17 gene (610928) on chromosome 8q11; VUR4 (614317) maps to chromosome 5; VUR5 (614318) maps to chromosome 13; VUR6 (614319) maps to chromosome 18; VUR7 (615390) maps to chromosome 12; and VUR8 (615963) is caused by mutation in the TNXB gene (600985) on chromosome 6p21. A possible X-linked form has been reported (VURX; 314550).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/21852">Feature record</a> | <a href="/medgen?term=%22Vesicoureteral%20reflux%22%5BClinical%20Features%5D%20OR%2021852%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_98227"><div><strong>Nephrolithiasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98227</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0392525</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">The presence of calculi (stones) in the kidneys.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/98227">Feature record</a> | <a href="/medgen?term=%22Nephrolithiasis%22%5BClinical%20Features%5D%20OR%2098227%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_108156"><div><strong>Enlarged kidney</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108156</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0542518</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">An abnormal increase in the size of the kidney.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/108156">Feature record</a> | <a href="/medgen?term=%22Enlarged%20kidney%22%5BClinical%20Features%5D%20OR%20108156%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_377097"><div><strong>Overgrowth of external genitalia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377097</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1851722</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/377097">Feature record</a> | <a href="/medgen?term=%22Overgrowth%20of%20external%20genitalia%22%5BClinical%20Features%5D%20OR%20377097%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_370605"><div><strong>Renal cortical cysts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370605</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1969144</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Cysts of the cortex of the kidney.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/370605">Feature record</a> | <a href="/medgen?term=%22Renal%20cortical%20cysts%22%5BClinical%20Features%5D%20OR%20370605%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_5459"><div><strong>Cardiomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5459</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0018800</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/5459">Feature record</a> | <a href="/medgen?term=%22Cardiomegaly%22%5BClinical%20Features%5D%20OR%205459%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_209232"><div><strong>Cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>209232</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0878544</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/209232">Feature record</a> | <a href="/medgen?term=%22Cardiomyopathy%22%5BClinical%20Features%5D%20OR%20209232%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_90701"><div><strong>Hemihypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90701</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0332890</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Overgrowth of only one side of the body.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/90701">Feature record</a> | <a href="/medgen?term=%22Hemihypertrophy%22%5BClinical%20Features%5D%20OR%2090701%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_376550"><div><strong>Overgrowth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376550</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849265</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/376550">Feature record</a> | <a href="/medgen?term=%22Overgrowth%22%5BClinical%20Features%5D%20OR%20376550%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_42428"><div><strong>Hepatomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42428</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0019209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Abnormally increased size of the liver.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/42428">Feature record</a> | <a href="/medgen?term=%22Hepatomegaly%22%5BClinical%20Features%5D%20OR%2042428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_338770"><div><strong>Pancreatic hyperplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338770</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1851733</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Hyperplasia of the pancreas.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/338770">Feature record</a> | <a href="/medgen?term=%22Pancreatic%20hyperplasia%22%5BClinical%20Features%5D%20OR%20338770%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867181"><div><strong>Posterior helix pit</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867181</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4021539</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/867181">Feature record</a> | <a href="/medgen?term=%22Posterior%20helix%20pit%22%5BClinical%20Features%5D%20OR%20867181%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_113171"><div><strong>Diastasis recti</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113171</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0221766</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/113171">Feature record</a> | <a href="/medgen?term=%22Diastasis%20recti%22%5BClinical%20Features%5D%20OR%20113171%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_105329"><div><strong>Large fontanelles</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105329</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0456132</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/105329">Feature record</a> | <a href="/medgen?term=%22Large%20fontanelles%22%5BClinical%20Features%5D%20OR%20105329%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_154262"><div><strong>Accelerated skeletal maturation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154262</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0545053</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased rate of skeletal maturation. Accelerated 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/154262">Feature record</a> | <a href="/medgen?term=%22Accelerated%20skeletal%20maturation%22%5BClinical%20Features%5D%20OR%20154262%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_162756"><div><strong>Congenital omphalocele</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162756</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0795690</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis (230750), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by Bugge, 2010). On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, Yang et al. (1992) concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects. Omphalocele can be a feature of genetic disorders, such as Beckwith-Wiedemann syndrome (130650) and the Shprintzen-Goldberg syndrome (182210).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162756">Feature record</a> | <a href="/medgen?term=%22Congenital%20omphalocele%22%5BClinical%20Features%5D%20OR%20162756%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_381255"><div><strong>Prominent occiput</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381255</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1853737</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased convexity of the occiput (posterior part of the skull).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381255">Feature record</a> | <a href="/medgen?term=%22Prominent%20occiput%22%5BClinical%20Features%5D%20OR%20381255%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_387953"><div><strong>Prominent metopic ridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>387953</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1857949</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Vertical bony ridge positioned in the midline of the forehead.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/387953">Feature record</a> | <a href="/medgen?term=%22Prominent%20metopic%20ridge%22%5BClinical%20Features%5D%20OR%20387953%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_419183"><div><strong>Dandy-Walker malformation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419183</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2931867</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419183">Feature record</a> | <a href="/medgen?term=%22Dandy-Walker%20malformation%22%5BClinical%20Features%5D%20OR%20419183%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57646"><div><strong>Neonatal hypoglycemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57646</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0158986</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Blood glucose concentration below the lower limit of established reference ranges in a newborn.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57646">Feature record</a> | <a href="/medgen?term=%22Neonatal%20hypoglycemia%22%5BClinical%20Features%5D%20OR%2057646%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44236"><div><strong>Macroglossia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44236</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0024421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased length and width of the tongue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44236">Feature record</a> | <a href="/medgen?term=%22Macroglossia%22%5BClinical%20Features%5D%20OR%2044236%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_335284"><div><strong>Coarse facial features</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335284</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1845847</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335284">Feature record</a> | <a href="/medgen?term=%22Coarse%20facial%20features%22%5BClinical%20Features%5D%20OR%20335284%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_339938"><div><strong>Midface retrusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339938</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1853242</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339938">Feature record</a> | <a href="/medgen?term=%22Midface%20retrusion%22%5BClinical%20Features%5D%20OR%20339938%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65911"><div><strong>Nevus flammeus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65911</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0235752</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65911">Feature record</a> | <a href="/medgen?term=%22Nevus%20flammeus%22%5BClinical%20Features%5D%20OR%2065911%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_853130"><div><strong>Placental mesenchymal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>853130</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1096298</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Placental mesenchymal dysplasia is a rare anomaly characterized by placentomegaly, dilatation of chorionic vessels and hydropic stem villi with cistern-like formation. It is often clinically mistaken for a partial hydatidiform mole but there is no trophoblastic proliferation. P57 immunohistochemical expression is discordant, showing a normal positive expression in the cytotrophoblastic cells, and loss of expression in the stromal cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/853130">Feature record</a> | <a href="/medgen?term=%22Placental%20mesenchymal%20dysplasia%22%5BClinical%20Features%5D%20OR%20853130%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342072"><div><strong>Adrenocortical cytomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342072</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1851720</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342072">Feature record</a> | <a href="/medgen?term=%22Adrenocortical%20cytomegaly%22%5BClinical%20Features%5D%20OR%20342072%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41917"><div><strong>Proptosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41917</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0015300</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An eye that is protruding anterior to the plane of the face to a greater extent than is typical.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41917">Feature record</a> | <a href="/medgen?term=%22Proptosis%22%5BClinical%20Features%5D%20OR%2041917%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335284" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coarse facial features</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44236" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macroglossia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_339938" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Midface retrusion</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_57646" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal hypoglycemia</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_853130" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Placental mesenchymal dysplasia</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_5459" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomegaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_209232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomyopathy</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_42428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatomegaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_338770" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pancreatic hyperplasia</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_342072" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adrenocortical cytomegaly</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_41917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proptosis</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_8192" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cryptorchidism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108156" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Enlarged kidney</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrocalcinosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98227" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrolithiasis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_377097" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Overgrowth of external genitalia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_370605" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal cortical cysts</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21852" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vesicoureteral reflux</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_65911" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nevus flammeus</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_154262" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Accelerated skeletal maturation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_162756" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital omphalocele</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_419183" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dandy-Walker malformation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113171" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diastasis recti</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105329" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Large fontanelles</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_387953" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prominent metopic ridge</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381255" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prominent occiput</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_867181" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Posterior helix pit</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_90701" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemihypertrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_376550" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Overgrowth</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_104917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adrenal cortex carcinoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_104912" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gonadoblastoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_61644" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatoblastoma</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></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><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0004903[DISCUI]&test_type=Clinical" ref="ncbi_uid=2562">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=2562" target="_blank" href="/omim/130650">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1294%20OR%20NBK1394)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=2562">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=2562" ref="ncbi_uid=2562">V</a></span></span><span class="TLline">Beckwith-Wiedemann syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/3441" ref="tree=MeSH" title="MedGen record for Congenital chromosomal disease">Congenital chromosomal disease</a></span><ul><li><span class="matched_ds">Beckwith-Wiedemann syndrome</span><ul><li><span class="TLline"><a href="/medgen/1826104" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to 11p15 microdeletion">Beckwith-Wiedemann syndrome due to 11p15 microdeletion</a></span></li><li><span class="TLline"><a href="/medgen/1826126" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to 11p15 microduplication">Beckwith-Wiedemann syndrome due to 11p15 microduplication</a></span></li><li><span class="TLline"><a href="/medgen/1826105" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion">Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion</a></span></li><li><span class="TLline"><a href="/medgen/1826157" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to CDKN1C mutation">Beckwith-Wiedemann syndrome due to CDKN1C mutation</a></span></li><li><span class="TLline"><a href="/medgen/1842606" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to imprinting defect of 11p15">Beckwith-Wiedemann syndrome due to imprinting defect of 11p15</a></span></li><li><span class="TLline"><a href="/medgen/1825953" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to NSD1 mutation">Beckwith-Wiedemann syndrome due to NSD1 mutation</a></span></li><li><span class="TLline"><a href="/medgen/1843183" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11">Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=260&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Beckwith-Wiedemann syndrome</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34008861">Improving the prenatal diagnosis of Beckwith-Wiedemann syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van den Veyver IB</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2021 Jun;41(7):795-797.
|
||
Epub 2021 May 25
|
||
doi: 10.1002/pd.5971.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34008861" target="_blank">34008861</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29377879">Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brioude F,
|
||
Kalish JM,
|
||
Mussa A,
|
||
Foster AC,
|
||
Bliek J,
|
||
Ferrero GB,
|
||
Boonen SE,
|
||
Cole T,
|
||
Baker R,
|
||
Bertoletti M,
|
||
Cocchi G,
|
||
Coze C,
|
||
De Pellegrin M,
|
||
Hussain K,
|
||
Ibrahim A,
|
||
Kilby MD,
|
||
Krajewska-Walasek M,
|
||
Kratz CP,
|
||
Ladusans EJ,
|
||
Lapunzina P,
|
||
Le Bouc Y,
|
||
Maas SM,
|
||
Macdonald F,
|
||
Õunap K,
|
||
Peruzzi L,
|
||
Rossignol S,
|
||
Russo S,
|
||
Shipster C,
|
||
Skórka A,
|
||
Tatton-Brown K,
|
||
Tenorio J,
|
||
Tortora C,
|
||
Grønskov K,
|
||
Netchine I,
|
||
Hennekam RC,
|
||
Prawitt D,
|
||
Tümer Z,
|
||
Eggermann T,
|
||
Mackay DJG,
|
||
Riccio A,
|
||
Maher ER</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2018 Apr;14(4):229-249.
|
||
Epub 2018 Jan 29
|
||
doi: 10.1038/nrendo.2017.166.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29377879" target="_blank">29377879</a><a href="/pmc/articles/PMC6022848" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23820480">Clinical utility gene card for: Beckwith-Wiedemann Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eggermann T,
|
||
Algar E,
|
||
Lapunzina P,
|
||
Mackay D,
|
||
Maher ER,
|
||
Mannens M,
|
||
Netchine I,
|
||
Prawitt D,
|
||
Riccio A,
|
||
Temple IK,
|
||
Weksberg R</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2014 Mar;22(3)
|
||
Epub 2013 Jul 3
|
||
doi: 10.1038/ejhg.2013.132.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23820480" target="_blank">23820480</a><a href="/pmc/articles/PMC3925261" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22beckwith-wiedemann%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (54)</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/29406007">Hyperinsulinism in the Neonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lord K,
|
||
De León DD</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2018 Mar;45(1):61-74.
|
||
Epub 2017 Dec 6
|
||
doi: 10.1016/j.clp.2017.10.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29406007" target="_blank">29406007</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29377879">Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brioude F,
|
||
Kalish JM,
|
||
Mussa A,
|
||
Foster AC,
|
||
Bliek J,
|
||
Ferrero GB,
|
||
Boonen SE,
|
||
Cole T,
|
||
Baker R,
|
||
Bertoletti M,
|
||
Cocchi G,
|
||
Coze C,
|
||
De Pellegrin M,
|
||
Hussain K,
|
||
Ibrahim A,
|
||
Kilby MD,
|
||
Krajewska-Walasek M,
|
||
Kratz CP,
|
||
Ladusans EJ,
|
||
Lapunzina P,
|
||
Le Bouc Y,
|
||
Maas SM,
|
||
Macdonald F,
|
||
Õunap K,
|
||
Peruzzi L,
|
||
Rossignol S,
|
||
Russo S,
|
||
Shipster C,
|
||
Skórka A,
|
||
Tatton-Brown K,
|
||
Tenorio J,
|
||
Tortora C,
|
||
Grønskov K,
|
||
Netchine I,
|
||
Hennekam RC,
|
||
Prawitt D,
|
||
Tümer Z,
|
||
Eggermann T,
|
||
Mackay DJG,
|
||
Riccio A,
|
||
Maher ER</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2018 Apr;14(4):229-249.
|
||
Epub 2018 Jan 29
|
||
doi: 10.1038/nrendo.2017.166.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29377879" target="_blank">29377879</a><a href="/pmc/articles/PMC6022848" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22692949">The epidemiology of hepatoblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spector LG,
|
||
Birch J</span><br />
|
||
<span class="medgenPMjournal">Pediatr Blood Cancer</span>
|
||
2012 Nov;59(5):776-9.
|
||
Epub 2012 Jun 12
|
||
doi: 10.1002/pbc.24215.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22692949" target="_blank">22692949</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16882496">Adrenocortical carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodgers SE,
|
||
Evans DB,
|
||
Lee JE,
|
||
Perrier ND</span><br />
|
||
<span class="medgenPMjournal">Surg Oncol Clin N Am</span>
|
||
2006 Jul;15(3):535-53.
|
||
doi: 10.1016/j.soc.2006.05.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16882496" target="_blank">16882496</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16010676">Beckwith-Wiedemann syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weksberg R,
|
||
Shuman C,
|
||
Smith AC</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2005 Aug 15;137C(1):12-23.
|
||
doi: 10.1002/ajmg.c.30058.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16010676" target="_blank">16010676</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Beckwith-Wiedemann%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (471)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37426460">Beckwith-Wiedemann syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mishra D,
|
||
Chakole V</span><br />
|
||
<span class="medgenPMjournal">Pan Afr Med J</span>
|
||
2023;45:17.
|
||
Epub 2023 May 5
|
||
doi: 10.11604/pamj.2023.45.17.38741.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37426460" target="_blank">37426460</a><a href="/pmc/articles/PMC10323809" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33540475">Omphalocele-What should we tell the prospective parents?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adams AD,
|
||
Stover S,
|
||
Rac MW</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2021 Mar;41(4):486-496.
|
||
Epub 2021 Feb 4
|
||
doi: 10.1002/pd.5886.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33540475" target="_blank">33540475</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29377879">Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brioude F,
|
||
Kalish JM,
|
||
Mussa A,
|
||
Foster AC,
|
||
Bliek J,
|
||
Ferrero GB,
|
||
Boonen SE,
|
||
Cole T,
|
||
Baker R,
|
||
Bertoletti M,
|
||
Cocchi G,
|
||
Coze C,
|
||
De Pellegrin M,
|
||
Hussain K,
|
||
Ibrahim A,
|
||
Kilby MD,
|
||
Krajewska-Walasek M,
|
||
Kratz CP,
|
||
Ladusans EJ,
|
||
Lapunzina P,
|
||
Le Bouc Y,
|
||
Maas SM,
|
||
Macdonald F,
|
||
Õunap K,
|
||
Peruzzi L,
|
||
Rossignol S,
|
||
Russo S,
|
||
Shipster C,
|
||
Skórka A,
|
||
Tatton-Brown K,
|
||
Tenorio J,
|
||
Tortora C,
|
||
Grønskov K,
|
||
Netchine I,
|
||
Hennekam RC,
|
||
Prawitt D,
|
||
Tümer Z,
|
||
Eggermann T,
|
||
Mackay DJG,
|
||
Riccio A,
|
||
Maher ER</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2018 Apr;14(4):229-249.
|
||
Epub 2018 Jan 29
|
||
doi: 10.1038/nrendo.2017.166.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29377879" target="_blank">29377879</a><a href="/pmc/articles/PMC6022848" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19550435">Beckwith-Wiedemann syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weksberg R,
|
||
Shuman C,
|
||
Beckwith JB</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2010 Jan;18(1):8-14.
|
||
doi: 10.1038/ejhg.2009.106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19550435" target="_blank">19550435</a><a href="/pmc/articles/PMC2987155" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7966193">Beckwith-Wiedemann syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elliott M,
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Goldman M,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Beckwith-Wiedemann%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (137)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/34970667">Follow-up for a Preterm Infant with Beckwith-Wiedemann Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Urakami T</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/32748612" target="_blank">32748612</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29377879">Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Brioude F,
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De Pellegrin M,
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Kilby MD,
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Krajewska-Walasek M,
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Kratz CP,
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Ladusans EJ,
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Lapunzina P,
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<div class="nl"><a target="_blank" href="/pubmed/16882496">Adrenocortical carcinoma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rodgers SE,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Beckwith-Wiedemann%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (224)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/32748612">Tall stature in children and adolescents.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Urakami T</span><br />
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<span class="medgenPMjournal">Minerva Pediatr</span>
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doi: 10.23736/S0026-4946.20.05971-X.
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<span class="bold">PMID: </span><a href="/pubmed/32748612" target="_blank">32748612</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31103180">Overgrowth Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Li Y,
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Donnelly CG,
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Rivera RM</span><br />
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doi: 10.1016/j.cvfa.2019.02.007.
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<span class="bold">PMID: </span><a href="/pubmed/31103180" target="_blank">31103180</a><a href="/pmc/articles/PMC6527122" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29377879">Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Brioude F,
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Kalish JM,
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Mussa A,
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Foster AC,
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Bliek J,
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Ferrero GB,
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Boonen SE,
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Cole T,
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Baker R,
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Bertoletti M,
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Cocchi G,
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Coze C,
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De Pellegrin M,
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Hussain K,
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Ibrahim A,
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Kilby MD,
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Krajewska-Walasek M,
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Kratz CP,
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Ladusans EJ,
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Lapunzina P,
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Le Bouc Y,
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Maas SM,
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Macdonald F,
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Õunap K,
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Peruzzi L,
|
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Rossignol S,
|
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Russo S,
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Shipster C,
|
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Skórka A,
|
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Tatton-Brown K,
|
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Tenorio J,
|
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Tortora C,
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Grønskov K,
|
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Netchine I,
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Hennekam RC,
|
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Prawitt D,
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Tümer Z,
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Eggermann T,
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Mackay DJG,
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Riccio A,
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Maher ER</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/19550435">Beckwith-Wiedemann syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Weksberg R,
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<div class="nl"><a target="_blank" href="/pubmed/17223397">Posterior helical pits.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Prescott TE,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Beckwith-Wiedemann%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (271)</a></div></div>
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||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/38041843">Comprehensive review of the timing of surgical management of macroglossia in Beckwith-Wiedemann syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kizek P,
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Glinska KK,
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Riznic M,
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Borza B,
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Schwartzova V,
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Kotulicova Z</span><br />
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<span class="medgenPMjournal">Bratisl Lek Listy</span>
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2024;125(1):33-37.
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doi: 10.4149/BLL_2024_006.
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<span class="bold">PMID: </span><a href="/pubmed/38041843" target="_blank">38041843</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36229262">Etiological diagnosis of macroglossia: Systematic review and diagnostic algorithm.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dietrich E,
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Grimaux X,
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Martin L,
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Samimi M</span><br />
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<span class="medgenPMjournal">Ann Dermatol Venereol</span>
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2022 Dec;149(4):228-237.
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Epub 2022 Oct 11
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doi: 10.1016/j.annder.2022.03.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36229262" target="_blank">36229262</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34311970">Exomphalos with intestinal fistulation: Case series and systematic review for clinical characterization, management and embryopathogenesis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">McNickle L,
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Visa A,
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Clarke S,
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Yardley I,
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Tan YW</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/34311970" target="_blank">34311970</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33345357">Syndromic Forms of Hyperinsulinaemic Hypoglycaemia-A 15-year follow-up Study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kostopoulou E,
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Dastamani A,
|
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Güemes M,
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Clement E,
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Caiulo S,
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Shanmugananda P,
|
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Dattani M,
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Gilbert C,
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Hurst JA,
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Shah P</span><br />
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<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
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2021 Mar;94(3):399-412.
|
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Epub 2021 Jan 31
|
||
doi: 10.1111/cen.14393.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33345357" target="_blank">33345357</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30274708">Clinical features, treatment, and outcomes of bilateral Wilms' tumor: A systematic review and meta-analysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Han Q,
|
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Li K,
|
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Dong K,
|
||
Xiao X,
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Yao W,
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Liu G</span><br />
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<span class="medgenPMjournal">J Pediatr Surg</span>
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2018 Dec;53(12):2465-2469.
|
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Epub 2018 Sep 1
|
||
doi: 10.1016/j.jpedsurg.2018.08.022.
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||
<span class="bold">PMID: </span><a href="/pubmed/30274708" target="_blank">30274708</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Beckwith-Wiedemann%20syndrome%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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|
||
<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0004903%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (93)</a></li>
|
||
<li><a href="/gtr/tests?term=C0004903%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0004903%5bDISCUI%5d&filter=method%3A2%5F15" target="_blank">Methylation analysis (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C0004903%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0004903%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C0004903%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (103)</a></li>
|
||
<li><a href="/gtr/tests?term=C0004903%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (18)</a></li>
|
||
<li><a href="/gtr/tests?term=C0004903%5bDISCUI%5d&filter=method%3A2%5F20" target="_blank">Uniparental disomy study (UPD) (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0004903%5bDISCUI%5d" target="_blank">See all (143)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=130650" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=116" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Beckwith-Wiedemann%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22beckwith-wiedemann%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Beckwith-Wiedemann%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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|
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=147470%20600856%20604115%20607542%20616186" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1028[geneid]" target="_blank">View CDKN1C variations in ClinVar</a></li><li><a href="/clinvar/?term=3481[geneid]" target="_blank">View IGF2 variations in ClinVar</a></li><li><a href="/clinvar/?term=3784[geneid]" target="_blank">View KCNQ1 variations in ClinVar</a></li><li><a href="/clinvar/?term=10984[geneid]" target="_blank">View KCNQ1OT1 variations in ClinVar</a></li><li><a href="/clinvar/?term=105259599[geneid]" target="_blank">View H19-ICR variations in ClinVar</a></li><li><a href="/nuccore/190341108,209977069,211904133,270341354" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=130650" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Beckwith-Wiedemann+Syndrome/774" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/beckwith_wiedemann_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Beckwith-Wiedemann%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/beckwith-wiedemann-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/3343/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/20301568" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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<h3>Related information</h3>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=2562" ref="log$=recordlinks">PubMed (OMIM)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d69615cde49f3df782a265">Beckwith-Wiedemann syndrome</a>
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