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<meta name="keywords" content="C0270972, amstelodamensis, typus degenerativus, amsterdam dwarf, bdls, brachmann de lange syndrome, brachmann-de lange syndrome, brd4, bruck-de lange syndrome, cdl, cdls, cornelia de lange syndrome, de lange syndrome, de lange's syndrome, degenerative amstelodamensis typus, degenerative amsterodamensis typus, disease or syndrome, hdac8, rad21, syndrome, brachmann-de lange, typus degenerativus amstelodamensis, 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="Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=78752
|
||
ConceptID=C0270972
|
||
-->
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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/NBK1104/bin/cdls-Image002.gif" src-large="/books/NBK1104/bin/cdls-Image002.jpg" /></a><br /><a href="/books/NBK1104/figure/cdls.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1104/bin/cdls-Image001.gif" src-large="/books/NBK1104/bin/cdls-Image001.jpg" /></a><br /><a href="/books/NBK1104/figure/cdls.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1104/bin/cdls-Image003.gif" src-large="/books/NBK1104/bin/cdls-Image003.jpg" /></a><br /><a href="/books/NBK1104/figure/cdls.F3/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">De Lange syndrome<span class="h1sub">(CDLS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78752</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.">C0270972</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>CDL; CDLS; Cornelia de Lange syndrome</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Degenerative amstelodamensis typus (40354009); Degenerative amsterodamensis typus (40354009); Typus degenerativus amstelodamensis (40354009); Bruck-de Lange syndrome (40354009); De Lange syndrome (40354009); Cornelia de Lange syndrome (40354009); Brachmann-de Lange syndrome (40354009); Amsterdam dwarf (40354009)</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_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help 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="BRD4 - ID: 23476 - NCBI Gene" href="/gene/23476" class="medgenPMinfo">BRD4</a> (19p13.12); <a target="_blank" title="HDAC8 - ID: 55869 - NCBI Gene" href="/gene/55869" class="medgenPMinfo">HDAC8</a> (Xq13.1); <a target="_blank" title="RAD21 - ID: 5885 - NCBI Gene" href="/gene/5885" class="medgenPMinfo">RAD21</a> (8q24.11)</td></tr>
|
||
<tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/25836">NIPBL</a>, <a target="_blank" href="/gene/9126">SMC3</a>, <a target="_blank" href="/gene/8243">SMC1A</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0016033" target="_blank">MONDO:0016033</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/122470" target="_blank">122470</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS122470" target="_blank">PS122470</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=199">ORPHA199</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1104" target="_blank">Cornelia de Lange Syndrome</a></div><div>Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1104#cdls.Summary" target="NBK1104">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1104#cdls.Diagnosis" target="NBK1104">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1104#cdls.Clinical_Characteristics" target="NBK1104">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1104#cdls.Genetically_Related_Allelic_Disorde" target="NBK1104">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1104#cdls.Differential_Diagnosis" target="NBK1104">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1104#cdls.Management" target="NBK1104">Management</a> | <a class="medgenPMinfo" href="/books/NBK1104#cdls.Genetic_Counseling" target="NBK1104">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1104#cdls.Resources" target="NBK1104">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1104#cdls.Molecular_Genetics" target="NBK1104">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1104#cdls.Chapter_Notes" target="NBK1104">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1104#cdls.References" target="NBK1104">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
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Matthew A Deardorff | Sarah E Noon | Ian D Krantz <a href="/books/NBK1104" target="NBK1104" title="NCBI Bookshelf: Cornelia de Lange Syndrome">view full author information</a></div></div>
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</div>
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<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>
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<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, impaired intellectual development, and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).
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Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling.
|
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Genetic Heterogeneity of Cornelia de Lange Syndrome
|
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CDLS1, caused by mutation in the NIPBL gene, accounts for about 50 to 60% of CDLS cases (Musio et al., 2006; Rohatgi et al., 2010). X-linked CDLS2 (300590), caused by mutation in the SMC1A gene (300040), accounts for about 5% of cases. CDLS3 (610759) is caused by mutation in the SMC3 gene (606062), and CDLS4 (614701) is caused by mutation in the RAD21 gene (606462). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (300882), is caused by mutation in the HDAC8 gene (300269), the vertebrate histone deacetylase of SMC3. CDLS6 (620568) is caused by mutation in the BRD4 gene (608749). <a target="_blank" href="http://www.omim.org/entry/122470">http://www.omim.org/entry/122470</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe.<br /><br />Cornelia de Lange syndrome is characterized by slow growth before and after birth leading to short stature; intellectual disability that is usually moderate to severe; and abnormalities of bones in the arms, hands, and fingers. Most people with Cornelia de Lange syndrome also have distinctive facial features, including arched eyebrows that often meet in the middle (synophrys), long eyelashes, low-set ears, small and widely spaced teeth, and a small and upturned nose. Many affected individuals also have features similar to autism spectrum disorder, a developmental condition that affects communication and social interaction.<br /><br />Additional signs and symptoms of Cornelia de Lange syndrome can include excessive body hair (hypertrichosis), an unusually small head (microcephaly), hearing loss, and problems with the digestive tract. Some people with this condition are born with an opening in the roof of the mouth called a cleft palate. Seizures, heart defects, and eye problems have also been reported in people with this condition. <a target="_blank" href="https://medlineplus.gov/genetics/condition/cornelia-de-lange-syndrome">https://medlineplus.gov/genetics/condition/cornelia-de-lange-syndrome</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0270972[DISCUI]&test_type=Clinical" ref="ncbi_uid=78752">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78752" target="_blank" href="/omim/122470">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1104/" ref="ncbi_uid=78752">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78752" ref="ncbi_uid=78752">V</a></span></span><span class="TLline">De Lange syndrome</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1802395[DISCUI]&test_type=Clinical" ref="ncbi_uid=315658">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=315658" target="_blank" href="/omim/300040">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1104/" ref="ncbi_uid=315658">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=315658" ref="ncbi_uid=315658">V</a></span></span><span class="TLline"><a href="/medgen/315658" ref="tree=GTR&ncbi_uid=315658&link_uid=315658" title="View MedGen record for 'Congenital muscular hypertrophy-cerebral syndrome'">Congenital muscular hypertrophy-cerebral syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551851[DISCUI]&test_type=Clinical" ref="ncbi_uid=1645760">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1645760" target="_blank" href="/omim/122470">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1104/" ref="ncbi_uid=1645760">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1645760" ref="ncbi_uid=1645760">V</a></span></span><span class="TLline"><a href="/medgen/1645760" ref="tree=GTR&ncbi_uid=1645760&link_uid=1645760" title="View MedGen record for 'Cornelia de Lange syndrome 1'">Cornelia de Lange syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853099[DISCUI]&test_type=Clinical" ref="ncbi_uid=339902">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339902" target="_blank" href="/omim/606062">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1104/" ref="ncbi_uid=339902">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339902" ref="ncbi_uid=339902">V</a></span></span><span class="TLline"><a href="/medgen/339902" ref="tree=GTR&ncbi_uid=339902&link_uid=339902" title="View MedGen record for 'Cornelia de Lange syndrome 3'">Cornelia de Lange syndrome 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3553517[DISCUI]&test_type=Clinical" ref="ncbi_uid=766431">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=766431" target="_blank" href="/omim/606462">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1104/" ref="ncbi_uid=766431">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=766431" ref="ncbi_uid=766431">V</a></span></span><span class="TLline"><a href="/medgen/766431" ref="tree=GTR&ncbi_uid=766431&link_uid=766431" title="View MedGen record for 'Cornelia de Lange syndrome 4'">Cornelia de Lange syndrome 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3550903[DISCUI]&test_type=Clinical" ref="ncbi_uid=763817">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=763817" target="_blank" href="/omim/300269">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1104/" ref="ncbi_uid=763817">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=763817" ref="ncbi_uid=763817">V</a></span></span><span class="TLline"><a href="/medgen/763817" ref="tree=GTR&ncbi_uid=763817&link_uid=763817" title="View MedGen record for 'Cornelia de Lange syndrome 5'">Cornelia de Lange syndrome 5</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/3441" ref="tree=MeSH" title="MedGen record for Congenital chromosomal disease">Congenital chromosomal disease</a></span><ul><li><span class="matched_ds">De Lange syndrome</span><ul><li><span class="TLline"><a href="/medgen/315658" ref="tree=MeSH" title="MedGen record for Congenital muscular hypertrophy-cerebral syndrome">Congenital muscular hypertrophy-cerebral syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1645760" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 1">Cornelia de Lange syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/339902" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 3">Cornelia de Lange syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/766431" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 4">Cornelia de Lange syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/763817" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 5">Cornelia de Lange syndrome 5</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=299&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">De Lange syndrome</span> in Orphanet.</div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/37377026">Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.</a></div>
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Pie J,
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Ramos F,
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Musio A,
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Kline AD,
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Izumi K,
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Krantz ID</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
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2023 Aug;191(8):2113-2131.
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Epub 2023 Jun 28
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<span class="bold">PMID: </span><a href="/pubmed/37377026" target="_blank">37377026</a><a href="/pmc/articles/PMC10524367" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30793794">Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sabus A,
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<span class="medgenPMjournal">Pharmacotherapy</span>
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2019 Jun;39(6):645-664.
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<span class="bold">PMID: </span><a href="/pubmed/30793794" target="_blank">30793794</a><a href="/pmc/articles/PMC6555654" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29995837">Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kline AD,
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<span class="medgenPMjournal">Nat Rev Genet</span>
|
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2018 Oct;19(10):649-666.
|
||
doi: 10.1038/s41576-018-0031-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29995837" target="_blank">29995837</a><a href="/pmc/articles/PMC7136165" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22de%20lange%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 (32)</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/34358384">Clinical experience with non-invasive prenatal screening for single-gene disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohan P,
|
||
Lemoine J,
|
||
Trotter C,
|
||
Rakova I,
|
||
Billings P,
|
||
Peacock S,
|
||
Kao CY,
|
||
Wang Y,
|
||
Xia F,
|
||
Eng CM,
|
||
Benn P</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2022 Jan;59(1):33-39.
|
||
doi: 10.1002/uog.23756.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34358384" target="_blank">34358384</a><a href="/pmc/articles/PMC9302116" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30793794">Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sabus A,
|
||
Feinstein J,
|
||
Romani P,
|
||
Goldson E,
|
||
Blackmer A</span><br />
|
||
<span class="medgenPMjournal">Pharmacotherapy</span>
|
||
2019 Jun;39(6):645-664.
|
||
Epub 2019 Mar 27
|
||
doi: 10.1002/phar.2238.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30793794" target="_blank">30793794</a><a href="/pmc/articles/PMC6555654" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29995837">Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kline AD,
|
||
Moss JF,
|
||
Selicorni A,
|
||
Bisgaard AM,
|
||
Deardorff MA,
|
||
Gillett PM,
|
||
Ishman SL,
|
||
Kerr LM,
|
||
Levin AV,
|
||
Mulder PA,
|
||
Ramos FJ,
|
||
Wierzba J,
|
||
Ajmone PF,
|
||
Axtell D,
|
||
Blagowidow N,
|
||
Cereda A,
|
||
Costantino A,
|
||
Cormier-Daire V,
|
||
FitzPatrick D,
|
||
Grados M,
|
||
Groves L,
|
||
Guthrie W,
|
||
Huisman S,
|
||
Kaiser FJ,
|
||
Koekkoek G,
|
||
Levis M,
|
||
Mariani M,
|
||
McCleery JP,
|
||
Menke LA,
|
||
Metrena A,
|
||
O'Connor J,
|
||
Oliver C,
|
||
Pie J,
|
||
Piening S,
|
||
Potter CJ,
|
||
Quaglio AL,
|
||
Redeker E,
|
||
Richman D,
|
||
Rigamonti C,
|
||
Shi A,
|
||
Tümer Z,
|
||
Van Balkom IDC,
|
||
Hennekam RC</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Genet</span>
|
||
2018 Oct;19(10):649-666.
|
||
doi: 10.1038/s41576-018-0031-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29995837" target="_blank">29995837</a><a href="/pmc/articles/PMC7136165" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25847322">Etiology and pathogenesis of the cohesinopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zakari M,
|
||
Yuen K,
|
||
Gerton JL</span><br />
|
||
<span class="medgenPMjournal">Wiley Interdiscip Rev Dev Biol</span>
|
||
2015 Sep-Oct;4(5):489-504.
|
||
Epub 2015 Apr 7
|
||
doi: 10.1002/wdev.190.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25847322" target="_blank">25847322</a><a href="/pmc/articles/PMC6680315" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15591270">NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Borck G,
|
||
Redon R,
|
||
Sanlaville D,
|
||
Rio M,
|
||
Prieur M,
|
||
Lyonnet S,
|
||
Vekemans M,
|
||
Carter NP,
|
||
Munnich A,
|
||
Colleaux L,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2004 Dec;41(12):e128.
|
||
doi: 10.1136/jmg.2004.026666.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15591270" target="_blank">15591270</a><a href="/pmc/articles/PMC1735640" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22De%20Lange%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 (188)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35328068">KMT2A: Umbrella Gene for Multiple Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castiglioni S,
|
||
Di Fede E,
|
||
Bernardelli C,
|
||
Lettieri A,
|
||
Parodi C,
|
||
Grazioli P,
|
||
Colombo EA,
|
||
Ancona S,
|
||
Milani D,
|
||
Ottaviano E,
|
||
Borghi E,
|
||
Massa V,
|
||
Ghelma F,
|
||
Vignoli A,
|
||
Lesma E,
|
||
Gervasini C</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2022 Mar 15;13(3)
|
||
doi: 10.3390/genes13030514.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35328068" target="_blank">35328068</a><a href="/pmc/articles/PMC8949091" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31704779">Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarogni P,
|
||
Pallotta MM,
|
||
Musio A</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2020 May;57(5):289-295.
|
||
Epub 2019 Nov 8
|
||
doi: 10.1136/jmedgenet-2019-106277.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31704779" target="_blank">31704779</a><a href="/pmc/articles/PMC7231464" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29995837">Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kline AD,
|
||
Moss JF,
|
||
Selicorni A,
|
||
Bisgaard AM,
|
||
Deardorff MA,
|
||
Gillett PM,
|
||
Ishman SL,
|
||
Kerr LM,
|
||
Levin AV,
|
||
Mulder PA,
|
||
Ramos FJ,
|
||
Wierzba J,
|
||
Ajmone PF,
|
||
Axtell D,
|
||
Blagowidow N,
|
||
Cereda A,
|
||
Costantino A,
|
||
Cormier-Daire V,
|
||
FitzPatrick D,
|
||
Grados M,
|
||
Groves L,
|
||
Guthrie W,
|
||
Huisman S,
|
||
Kaiser FJ,
|
||
Koekkoek G,
|
||
Levis M,
|
||
Mariani M,
|
||
McCleery JP,
|
||
Menke LA,
|
||
Metrena A,
|
||
O'Connor J,
|
||
Oliver C,
|
||
Pie J,
|
||
Piening S,
|
||
Potter CJ,
|
||
Quaglio AL,
|
||
Redeker E,
|
||
Richman D,
|
||
Rigamonti C,
|
||
Shi A,
|
||
Tümer Z,
|
||
Van Balkom IDC,
|
||
Hennekam RC</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Genet</span>
|
||
2018 Oct;19(10):649-666.
|
||
doi: 10.1038/s41576-018-0031-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29995837" target="_blank">29995837</a><a href="/pmc/articles/PMC7136165" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25209348">Cornelia de Lange syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boyle MI,
|
||
Jespersgaard C,
|
||
Brøndum-Nielsen K,
|
||
Bisgaard AM,
|
||
Tümer Z</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2015 Jul;88(1):1-12.
|
||
Epub 2014 Oct 28
|
||
doi: 10.1111/cge.12499.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25209348" target="_blank">25209348</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14201663">BRACHMANN/DE LANGE SYNDROME.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">OPITZ JM,
|
||
SEGAL AT,
|
||
LEHRKE R,
|
||
NADLER H</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
1964 Nov 7;2(7367):1019.
|
||
doi: 10.1016/s0140-6736(64)90980-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14201663" target="_blank">14201663</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22De%20Lange%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (408)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38567724">BRD2 promotes antibody class switch recombination by facilitating DNA repair in collaboration with NIPBL.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gothwal SK,
|
||
Refaat AM,
|
||
Nakata M,
|
||
Stanlie A,
|
||
Honjo T,
|
||
Begum NA</span><br />
|
||
<span class="medgenPMjournal">Nucleic Acids Res</span>
|
||
2024 May 8;52(8):4422-4439.
|
||
doi: 10.1093/nar/gkae204.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38567724" target="_blank">38567724</a><a href="/pmc/articles/PMC11077081" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33285362">Severe cortical damage associated with COVID-19 case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zombori L,
|
||
Bacon M,
|
||
Wood H,
|
||
Chatterjee F,
|
||
Venkateswaran R,
|
||
Lampariello S,
|
||
Yoong M</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2021 Jan;84:66-68.
|
||
Epub 2020 Nov 23
|
||
doi: 10.1016/j.seizure.2020.11.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33285362" target="_blank">33285362</a><a href="/pmc/articles/PMC7682480" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30793794">Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sabus A,
|
||
Feinstein J,
|
||
Romani P,
|
||
Goldson E,
|
||
Blackmer A</span><br />
|
||
<span class="medgenPMjournal">Pharmacotherapy</span>
|
||
2019 Jun;39(6):645-664.
|
||
Epub 2019 Mar 27
|
||
doi: 10.1002/phar.2238.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30793794" target="_blank">30793794</a><a href="/pmc/articles/PMC6555654" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27445573">An Adverse Reaction in the Pediatric Sleep Laboratory.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reppucci D,
|
||
Medin D,
|
||
Al-Saleh S,
|
||
Smith MJ,
|
||
Barter J,
|
||
Amin R</span><br />
|
||
<span class="medgenPMjournal">Can Respir J</span>
|
||
2016;2016:9712579.
|
||
Epub 2016 Mar 29
|
||
doi: 10.1155/2016/9712579.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27445573" target="_blank">27445573</a><a href="/pmc/articles/PMC4904602" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26013035">HDAC8: a multifaceted target for therapeutic interventions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chakrabarti A,
|
||
Oehme I,
|
||
Witt O,
|
||
Oliveira G,
|
||
Sippl W,
|
||
Romier C,
|
||
Pierce RJ,
|
||
Jung M</span><br />
|
||
<span class="medgenPMjournal">Trends Pharmacol Sci</span>
|
||
2015 Jul;36(7):481-92.
|
||
Epub 2015 May 23
|
||
doi: 10.1016/j.tips.2015.04.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26013035" target="_blank">26013035</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22De%20Lange%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 (38)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32762940">Cornelia de Lange syndrome and congenital diaphragmatic hernia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta VS,
|
||
Khan AM,
|
||
Ebanks AH,
|
||
Lally PA,
|
||
Lally KP,
|
||
Harting MT;
|
||
Congenital Diaphragmatic Hernia Study Group</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2021 Apr;56(4):697-699.
|
||
Epub 2020 Jun 11
|
||
doi: 10.1016/j.jpedsurg.2020.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32762940" target="_blank">32762940</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30692697">Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang J,
|
||
Li J,
|
||
Saucier JB,
|
||
Feng Y,
|
||
Jiang Y,
|
||
Sinson J,
|
||
McCombs AK,
|
||
Schmitt ES,
|
||
Peacock S,
|
||
Chen S,
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Dai H,
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Ge X,
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Wang G,
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Shaw CA,
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Mei H,
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Breman A,
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Xia F,
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Yang Y,
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Purgason A,
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Pourpak A,
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Chen Z,
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Wang X,
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Wang Y,
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Kulkarni S,
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<div class="nl"><a target="_blank" href="/pubmed/10928594">Probable Cornelia de Lange syndrome with progressive parkinsonism and dystonia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fernandez HH,
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<span class="bold">PMID: </span><a href="/pubmed/10928594" target="_blank">10928594</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22De%20Lange%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 (123)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38884729">Human Genetics of Ventricular Septal Defect.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Perrot A,
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<div class="nl"><a target="_blank" href="/pubmed/34358384">Clinical experience with non-invasive prenatal screening for single-gene disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mohan P,
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Lemoine J,
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Trotter C,
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Rakova I,
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Billings P,
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Peacock S,
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Kao CY,
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Wang Y,
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<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
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2022 Jan;59(1):33-39.
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<span class="bold">PMID: </span><a href="/pubmed/34358384" target="_blank">34358384</a><a href="/pmc/articles/PMC9302116" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31516082">The expanding phenotypes of cohesinopathies: one ring to rule them all!</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Piché J,
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Van Vliet PP,
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Pucéat M,
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2019 Nov;18(21):2828-2848.
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Epub 2019 Sep 13
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doi: 10.1080/15384101.2019.1658476.
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<span class="bold">PMID: </span><a href="/pubmed/31516082" target="_blank">31516082</a><a href="/pmc/articles/PMC6791706" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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||
<div class="nl"><a target="_blank" href="/pubmed/30692697">Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhang J,
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Li J,
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Saucier JB,
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Feng Y,
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Jiang Y,
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Sinson J,
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McCombs AK,
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Schmitt ES,
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Peacock S,
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Chen S,
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Dai H,
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Ge X,
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Wang G,
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Shaw CA,
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Mei H,
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Breman A,
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Xia F,
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Yang Y,
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Purgason A,
|
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Pourpak A,
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Chen Z,
|
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Wang X,
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Wang Y,
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Kulkarni S,
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Choy KW,
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Wapner RJ,
|
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Van den Veyver IB,
|
||
Beaudet A,
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||
Parmar S,
|
||
Wong LJ,
|
||
Eng CM</span><br />
|
||
<span class="medgenPMjournal">Nat Med</span>
|
||
2019 Mar;25(3):439-447.
|
||
Epub 2019 Jan 28
|
||
doi: 10.1038/s41591-018-0334-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30692697" target="_blank">30692697</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27091086">Genome stability: What we have learned from cohesinopathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cucco F,
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Musio A</span><br />
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<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
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2016 Jun;172(2):171-8.
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Epub 2016 Apr 19
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<span class="bold">PMID: </span><a href="/pubmed/27091086" target="_blank">27091086</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22De%20Lange%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 (174)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/34953928">Behavioral markers of social anxiety in Cornelia de Lange Syndrome: A brief systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giani L,
|
||
Michelini G,
|
||
Nobile M,
|
||
Ajmone PF,
|
||
Vizziello PG,
|
||
Scaini S</span><br />
|
||
<span class="medgenPMjournal">J Affect Disord</span>
|
||
2022 Feb 15;299:636-643.
|
||
Epub 2021 Dec 23
|
||
doi: 10.1016/j.jad.2021.12.099.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34953928" target="_blank">34953928</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34919300">Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hutchison DM,
|
||
Duffens A,
|
||
Yale K,
|
||
Park A,
|
||
Cardenas K,
|
||
Mesinkovska NA</span><br />
|
||
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
|
||
2022 Apr;36(4):536-546.
|
||
Epub 2021 Dec 31
|
||
doi: 10.1111/jdv.17877.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34919300" target="_blank">34919300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31301187">Cornelia de lange manifestations in otolaryngology: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bergeron M,
|
||
Chang K,
|
||
Ishman SL</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2020 Apr;130(4):E122-E133.
|
||
Epub 2019 Jul 13
|
||
doi: 10.1002/lary.28169.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31301187" target="_blank">31301187</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29949184">A systematic review of the management and outcomes of cecal and appendiceal volvulus in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miura da Costa K,
|
||
Saxena AK</span><br />
|
||
<span class="medgenPMjournal">Acta Paediatr</span>
|
||
2018 Dec;107(12):2054-2058.
|
||
Epub 2018 Jul 20
|
||
doi: 10.1111/apa.14476.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29949184" target="_blank">29949184</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27988966">Behaviour in Cornelia de Lange syndrome: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mulder PA,
|
||
Huisman SA,
|
||
Hennekam RC,
|
||
Oliver C,
|
||
van Balkom ID,
|
||
Piening S</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2017 Apr;59(4):361-366.
|
||
Epub 2016 Dec 18
|
||
doi: 10.1111/dmcn.13361.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27988966" target="_blank">27988966</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22De%20Lange%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 (6)</a></div></div>
|
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|
||
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|
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|
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|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0270972%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C0270972%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0270972%5bDISCUI%5d&filter=method%3A2%5F15" target="_blank">Methylation analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0270972%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (17)</a></li>
|
||
<li><a href="/gtr/tests?term=C0270972%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0270972%5bDISCUI%5d" target="_blank">See all (21)</a></total></li>
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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=(%22de%20lange%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(%22De%20Lange%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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<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=300269%20606462%20608749" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=5885[geneid]" target="_blank">View RAD21 variations in ClinVar</a></li><li><a href="/clinvar/?term=23476[geneid]" target="_blank">View BRD4 variations in ClinVar</a></li><li><a href="/clinvar/?term=55869[geneid]" target="_blank">View HDAC8 variations in ClinVar</a></li><li><a href="/nuccore/268828735" target="_blank">RefSeqGene</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/cornelia_de_lange_syndrome_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=De%20Lange%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/cornelia-de-lange-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/10109/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<h3>Reviews</h3>
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<li>
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<a href="/pubmed/20301283" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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|
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<li>
|
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<a href="/pubmed/clinical?term=De%20Lange%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<li>
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<a href="/pubmed?term=De%20Lange%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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