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<meta name="keywords" content="C5882712, brd4, cdls6, cornelia de lange syndrome 6, disease or syndrome, 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=1848930
|
||
ConceptID=C5882712
|
||
-->
|
||
<!--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">Cornelia de Lange syndrome 6<span class="h1sub">(CDLS6)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1848930</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C5882712</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>CDLS6</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="BRD4 - ID: 23476 - NCBI Gene" href="/gene/23476" class="medgenPMinfo">BRD4</a> (19p13.12)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0957921" target="_blank">MONDO:0957921</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620568" target="_blank">620568</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 />
|
||
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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Cornelia de Lange syndrome (CDLS) is a genetically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 60% of patients have mutations in the NIPBL gene (608667) (summary by Musio et al., 2006 and Hoppman-Chaney et al., 2012).
|
||
For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see CDLS1 (122470). <a target="_blank" href="http://www.omim.org/entry/620568">http://www.omim.org/entry/620568</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_2047"><div><strong>Arachnodactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2047</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.">C0003706</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally long and slender fingers (spider fingers).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2047">Feature record</a> | <a href="/medgen?term=%22Arachnodactyly%22%5BClinical%20Features%5D%20OR%202047%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334684"><div><strong>Short palm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334684</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.">C1843108</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Short palm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334684">Feature record</a> | <a href="/medgen?term=%22Short%20palm%22%5BClinical%20Features%5D%20OR%20334684%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_376561"><div><strong>Short 1st metacarpal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376561</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.">C1849311</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376561">Feature record</a> | <a href="/medgen?term=%22Short%201st%20metacarpal%22%5BClinical%20Features%5D%20OR%20376561%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340456"><div><strong>Clinodactyly of the 5th finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340456</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850049</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340456">Feature record</a> | <a href="/medgen?term=%22Clinodactyly%20of%20the%205th%20finger%22%5BClinical%20Features%5D%20OR%20340456%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42366"><div><strong>Ventricular septal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42366</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.">C0018818</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42366">Feature record</a> | <a href="/medgen?term=%22Ventricular%20septal%20defect%22%5BClinical%20Features%5D%20OR%2042366%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82723"><div><strong>Pulmonary artery atresia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82723</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.">C0265908</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82723">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20artery%20atresia%22%5BClinical%20Features%5D%20OR%2082723%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_235591"><div><strong>Atrioventricular canal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>235591</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.">C1389016</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A defect of the atrioventricular septum of the heart.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/235591">Feature record</a> | <a href="/medgen?term=%22Atrioventricular%20canal%20defect%22%5BClinical%20Features%5D%20OR%20235591%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4693"><div><strong>Fetal growth restriction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0015934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4693">Feature record</a> | <a href="/medgen?term=%22Fetal%20growth%20restriction%22%5BClinical%20Features%5D%20OR%204693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1368658"><div><strong>Gastroesophageal reflux</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1368658</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.">C4317146</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1368658">Feature record</a> | <a href="/medgen?term=%22Gastroesophageal%20reflux%22%5BClinical%20Features%5D%20OR%201368658%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488785"><div><strong>Macrotia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488785</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.">C0152421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488785">Feature record</a> | <a href="/medgen?term=%22Macrotia%22%5BClinical%20Features%5D%20OR%20488785%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65980"><div><strong>Low-set ears</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65980</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0239234</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65980">Feature record</a> | <a href="/medgen?term=%22Low-set%20ears%22%5BClinical%20Features%5D%20OR%2065980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96566"><div><strong>Posteriorly rotated ears</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96566</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.">C0431478</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96566">Feature record</a> | <a href="/medgen?term=%22Posteriorly%20rotated%20ears%22%5BClinical%20Features%5D%20OR%2096566%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19568"><div><strong>Psychotic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19568</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.">C0033975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19568">Feature record</a> | <a href="/medgen?term=%22Psychotic%20disorder%22%5BClinical%20Features%5D%20OR%2019568%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21654"><div><strong>Trichotillomania</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21654</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.">C0040953</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Trichotillomania (TTM) is a neuropsychiatric disorder characterized by chronic, repetitive, or compulsive hair pulling resulting in noticeable hair loss. The activity causes distress to the individual and often interferes with functioning. Affected individuals may develop physical complications and often have overlapping psychologic disorders, such as Tourette syndrome (GTS; 137580) or obsessive-compulsive disorder (OCD; 164230) (review by Novak et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21654">Feature record</a> | <a href="/medgen?term=%22Trichotillomania%22%5BClinical%20Features%5D%20OR%2021654%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_138005"><div><strong>Hypoplasia of the corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138005</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.">C0344482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the corpus callosum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138005">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20corpus%20callosum%22%5BClinical%20Features%5D%20OR%20138005%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</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.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_109373"><div><strong>Compulsive behaviors</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>109373</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.">C0600104</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Behavior that consists of repetitive acts, characterized by the feeling that one "has to" perform them, while being aware that these acts are not in line with one's overall goal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/109373">Feature record</a> | <a href="/medgen?term=%22Compulsive%20behaviors%22%5BClinical%20Features%5D%20OR%20109373%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6817"><div><strong>Inguinal hernia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6817</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.">C0019294</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Protrusion of the contents of the abdominal cavity through the inguinal canal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6817">Feature record</a> | <a href="/medgen?term=%22Inguinal%20hernia%22%5BClinical%20Features%5D%20OR%206817%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</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.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57643"><div><strong>Pectus carinatum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57643</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.">C0158731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57643">Feature record</a> | <a href="/medgen?term=%22Pectus%20carinatum%22%5BClinical%20Features%5D%20OR%2057643%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108148"><div><strong>Delayed skeletal maturation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108148</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0541764</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108148">Feature record</a> | <a href="/medgen?term=%22Delayed%20skeletal%20maturation%22%5BClinical%20Features%5D%20OR%20108148%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_330764"><div><strong>Posterior rib fusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330764</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.">C1842084</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complete or partial merging of the posterior part of adjacent ribs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/330764">Feature record</a> | <a href="/medgen?term=%22Posterior%20rib%20fusion%22%5BClinical%20Features%5D%20OR%20330764%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_346461"><div><strong>Down-sloping shoulders</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346461</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.">C1856872</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Low set, steeply sloping shoulders.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346461">Feature record</a> | <a href="/medgen?term=%22Down-sloping%20shoulders%22%5BClinical%20Features%5D%20OR%20346461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</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.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1640560"><div><strong>Developmental dysplasia of the hip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1640560</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.">C4551649</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital dysplasia of the hip (CDH) is an abnormality of the seating of the femoral head in the acetabulum. Its severity ranges from mild instability of the femoral head with slight capsular laxity, through moderate lateral displacement of the femoral head, without loss of contact of the head with the acetabulum, up to complete dislocation of the femoral head from the acetabulum. It is one of the most common skeletal congenital anomalies (summary by Sollazzo et al., 2000). Acetabular dysplasia is an idiopathic, localized developmental dysplasia of the hip that is characterized by a shallow hip socket and decreased coverage of the femoral head. Its radiologic criteria include the center-edge angle of Wiberg, the Sharp angle, and the acetabular roof obliquity. Most patients with acetabular dysplasia develop osteoarthritis (165720) after midlife, and even mild acetabular dysplasia can cause hip osteoarthritis (summary by Mabuchi et al., 2006). CDH occurs as an isolated anomaly or with more general disorders represented by several syndromes and with chromosomal abnormalities such as trisomy 18 (Wynne-Davies, 1970). Genetic Heterogeneity of Developmental Dysplasia of the Hip Developmental dysplasia of the hip-1 (DDH1) maps to chromosome 13q22; DDH2 (615612) maps to chromosome 3p21. DDH3 (620690) is caused by mutation in the LRP1 gene (107770) on chromosome 12q13.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1640560">Feature record</a> | <a href="/medgen?term=%22Developmental%20dysplasia%20of%20the%20hip%22%5BClinical%20Features%5D%20OR%201640560%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98391"><div><strong>Downslanted palpebral fissures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98391</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.">C0423110</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The palpebral fissure inclination is more than two standard deviations below the mean.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98391">Feature record</a> | <a href="/medgen?term=%22Downslanted%20palpebral%20fissures%22%5BClinical%20Features%5D%20OR%2098391%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140836"><div><strong>Telecanthus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140836</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.">C0423113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140836">Feature record</a> | <a href="/medgen?term=%22Telecanthus%22%5BClinical%20Features%5D%20OR%20140836%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_371332"><div><strong>Sparse eyebrow</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371332</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.">C1832446</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased density/number of eyebrow hairs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/371332">Feature record</a> | <a href="/medgen?term=%22Sparse%20eyebrow%22%5BClinical%20Features%5D%20OR%20371332%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_371973"><div><strong>Macrodontia of permanent maxillary central incisor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371973</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.">C1835095</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased size of the maxillary central secondary incisor tooth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/371973">Feature record</a> | <a href="/medgen?term=%22Macrodontia%20of%20permanent%20maxillary%20central%20incisor%22%5BClinical%20Features%5D%20OR%20371973%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326648"><div><strong>Anteverted nares</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326648</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.">C1840077</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326648">Feature record</a> | <a href="/medgen?term=%22Anteverted%20nares%22%5BClinical%20Features%5D%20OR%20326648%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343052"><div><strong>Short nose</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343052</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.">C1854114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343052">Feature record</a> | <a href="/medgen?term=%22Short%20nose%22%5BClinical%20Features%5D%20OR%20343052%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_351278"><div><strong>Long philtrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351278</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.">C1865014</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/351278">Feature record</a> | <a href="/medgen?term=%22Long%20philtrum%22%5BClinical%20Features%5D%20OR%20351278%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_358357"><div><strong>Highly arched eyebrow</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358357</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.">C1868571</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/358357">Feature record</a> | <a href="/medgen?term=%22Highly%20arched%20eyebrow%22%5BClinical%20Features%5D%20OR%20358357%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1370297"><div><strong>Cleft lip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1370297</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.">C4321245</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A gap in the lip or lips.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1370297">Feature record</a> | <a href="/medgen?term=%22Cleft%20lip%22%5BClinical%20Features%5D%20OR%201370297%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98132"><div><strong>Synophrys</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98132</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.">C0431447</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Meeting of the medial eyebrows in the midline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98132">Feature record</a> | <a href="/medgen?term=%22Synophrys%22%5BClinical%20Features%5D%20OR%2098132%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_452910"><div><strong>Frontal upsweep of hair</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>452910</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.">C1185616</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Upward and/or sideward growth of anterior hair.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/452910">Feature record</a> | <a href="/medgen?term=%22Frontal%20upsweep%20of%20hair%22%5BClinical%20Features%5D%20OR%20452910%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9373"><div><strong>Hypertelorism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9373</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.">C0020534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9373">Feature record</a> | <a href="/medgen?term=%22Hypertelorism%22%5BClinical%20Features%5D%20OR%209373%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21337"><div><strong>Strabismus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21337</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.">C0038379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21337">Feature record</a> | <a href="/medgen?term=%22Strabismus%22%5BClinical%20Features%5D%20OR%2021337%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_326648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anteverted nares</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1370297" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleft lip</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98391" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Downslanted palpebral fissures</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_358357" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Highly arched eyebrow</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_351278" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long philtrum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_371973" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrodontia of permanent maxillary central incisor</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343052" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short nose</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_371332" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sparse eyebrow</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140836" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Telecanthus</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arachnodactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340456" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clinodactyly of the 5th finger</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_376561" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short 1st metacarpal</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334684" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short palm</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_235591" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrioventricular canal defect</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82723" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary artery atresia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular septal defect</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_1368658" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastroesophageal reflux</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_9373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Strabismus</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_452910" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontal upsweep of hair</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98132" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Synophrys</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108148" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed skeletal maturation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1640560" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental dysplasia of the hip</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Down-sloping shoulders</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6817" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inguinal hernia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57643" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pectus carinatum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_330764" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Posterior rib fusion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_109373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Compulsive behaviors</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_138005" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the corpus callosum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19568" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Psychotic disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21654" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trichotillomania</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low-set ears</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488785" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrotia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96566" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Posteriorly rotated ears</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal growth restriction</a></span></li></ul></li></ul></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/38410936">Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gallagher D,
|
||
Pérez-Palma E,
|
||
Bruenger T,
|
||
Ghanty I,
|
||
Brilstra E,
|
||
Ceulemans B,
|
||
Chemaly N,
|
||
de Lange I,
|
||
Depienne C,
|
||
Guerrini R,
|
||
Mei D,
|
||
Møller RS,
|
||
Nabbout R,
|
||
Regan BM,
|
||
Schneider AL,
|
||
Scheffer IE,
|
||
Schoonjans AS,
|
||
Symonds JD,
|
||
Weckhuysen S,
|
||
Zuberi SM,
|
||
Lal D,
|
||
Brunklaus A</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2024 Apr;65(4):1046-1059.
|
||
Epub 2024 Feb 27
|
||
doi: 10.1111/epi.17882.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38410936" target="_blank">38410936</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37372421">Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barili V,
|
||
Ambrosini E,
|
||
Uliana V,
|
||
Bellini M,
|
||
Vitetta G,
|
||
Martorana D,
|
||
Cannizzaro IR,
|
||
Taiani A,
|
||
De Sensi E,
|
||
Caggiati P,
|
||
Hilton S,
|
||
Banka S,
|
||
Percesepe A</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Jun 10;14(6)
|
||
doi: 10.3390/genes14061241.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37372421" target="_blank">37372421</a><a href="/pmc/articles/PMC10297877" 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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(cornelia%20de%20lange%20syndrome%206)%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 (11)</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/38039993">Lenvatinib plus pembrolizumab versus lenvatinib plus placebo for advanced hepatocellular carcinoma (LEAP-002): a randomised, double-blind, phase 3 trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Llovet JM,
|
||
Kudo M,
|
||
Merle P,
|
||
Meyer T,
|
||
Qin S,
|
||
Ikeda M,
|
||
Xu R,
|
||
Edeline J,
|
||
Ryoo BY,
|
||
Ren Z,
|
||
Masi G,
|
||
Kwiatkowski M,
|
||
Lim HY,
|
||
Kim JH,
|
||
Breder V,
|
||
Kumada H,
|
||
Cheng AL,
|
||
Galle PR,
|
||
Kaneko S,
|
||
Wang A,
|
||
Mody K,
|
||
Dutcus C,
|
||
Dubrovsky L,
|
||
Siegel AB,
|
||
Finn RS;
|
||
LEAP-002 Investigators</span><br />
|
||
<span class="medgenPMjournal">Lancet Oncol</span>
|
||
2023 Dec;24(12):1399-1410.
|
||
doi: 10.1016/S1470-2045(23)00469-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38039993" target="_blank">38039993</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35074891">Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brunklaus A,
|
||
Pérez-Palma E,
|
||
Ghanty I,
|
||
Xinge J,
|
||
Brilstra E,
|
||
Ceulemans B,
|
||
Chemaly N,
|
||
de Lange I,
|
||
Depienne C,
|
||
Guerrini R,
|
||
Mei D,
|
||
Møller RS,
|
||
Nabbout R,
|
||
Regan BM,
|
||
Schneider AL,
|
||
Scheffer IE,
|
||
Schoonjans AS,
|
||
Symonds JD,
|
||
Weckhuysen S,
|
||
Kattan MW,
|
||
Zuberi SM,
|
||
Lal D</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2022 Mar 15;98(11):e1163-e1174.
|
||
Epub 2022 Jan 24
|
||
doi: 10.1212/WNL.0000000000200028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35074891" target="_blank">35074891</a><a href="/pmc/articles/PMC8935441" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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/31157366">Effect of Intraoperative High Positive End-Expiratory Pressure (PEEP) With Recruitment Maneuvers vs Low PEEP on Postoperative Pulmonary Complications in Obese Patients: A Randomized Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Writing Committee for the PROBESE Collaborative Group of the PROtective VEntilation Network (PROVEnet) for the Clinical Trial Network of the European Society of Anaesthesiology,
|
||
Bluth T,
|
||
Serpa Neto A,
|
||
Schultz MJ,
|
||
Pelosi P,
|
||
Gama de Abreu M;
|
||
PROBESE Collaborative Group,
|
||
Bluth T,
|
||
Bobek I,
|
||
Canet JC,
|
||
Cinnella G,
|
||
de Baerdemaeker L,
|
||
Gama de Abreu M,
|
||
Gregoretti C,
|
||
Hedenstierna G,
|
||
Hemmes SNT,
|
||
Hiesmayr M,
|
||
Hollmann MW,
|
||
Jaber S,
|
||
Laffey J,
|
||
Licker MJ,
|
||
Markstaller K,
|
||
Matot I,
|
||
Mills GH,
|
||
Mulier JP,
|
||
Pelosi P,
|
||
Putensen C,
|
||
Rossaint R,
|
||
Schmitt J,
|
||
Schultz MJ,
|
||
Senturk M,
|
||
Serpa Neto A,
|
||
Severgnini P,
|
||
Sprung J,
|
||
Vidal Melo MF,
|
||
Wrigge H</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2019 Jun 18;321(23):2292-2305.
|
||
doi: 10.1001/jama.2019.7505.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31157366" target="_blank">31157366</a><a href="/pmc/articles/PMC6582260" 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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cornelia%20de%20Lange%20syndrome%206%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 (120)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38410936">Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gallagher D,
|
||
Pérez-Palma E,
|
||
Bruenger T,
|
||
Ghanty I,
|
||
Brilstra E,
|
||
Ceulemans B,
|
||
Chemaly N,
|
||
de Lange I,
|
||
Depienne C,
|
||
Guerrini R,
|
||
Mei D,
|
||
Møller RS,
|
||
Nabbout R,
|
||
Regan BM,
|
||
Schneider AL,
|
||
Scheffer IE,
|
||
Schoonjans AS,
|
||
Symonds JD,
|
||
Weckhuysen S,
|
||
Zuberi SM,
|
||
Lal D,
|
||
Brunklaus A</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2024 Apr;65(4):1046-1059.
|
||
Epub 2024 Feb 27
|
||
doi: 10.1111/epi.17882.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38410936" target="_blank">38410936</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35074891">Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brunklaus A,
|
||
Pérez-Palma E,
|
||
Ghanty I,
|
||
Xinge J,
|
||
Brilstra E,
|
||
Ceulemans B,
|
||
Chemaly N,
|
||
de Lange I,
|
||
Depienne C,
|
||
Guerrini R,
|
||
Mei D,
|
||
Møller RS,
|
||
Nabbout R,
|
||
Regan BM,
|
||
Schneider AL,
|
||
Scheffer IE,
|
||
Schoonjans AS,
|
||
Symonds JD,
|
||
Weckhuysen S,
|
||
Kattan MW,
|
||
Zuberi SM,
|
||
Lal D</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2022 Mar 15;98(11):e1163-e1174.
|
||
Epub 2022 Jan 24
|
||
doi: 10.1212/WNL.0000000000200028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35074891" target="_blank">35074891</a><a href="/pmc/articles/PMC8935441" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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/2246693">Endocrinopathies in Cornelia de Lange syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwartz ID,
|
||
Schwartz KJ,
|
||
Kousseff BG,
|
||
Bercu BB,
|
||
Root AW</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1990 Dec;117(6):920-3.
|
||
doi: 10.1016/s0022-3476(05)80137-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2246693" target="_blank">2246693</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7287172">Cornelia-de-Lange syndrome.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Kumta NB,
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Mhaiskar U</span><br />
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<span class="medgenPMjournal">Indian Pediatr</span>
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1981 Jun;18(6):412-3.
|
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<span class="bold">PMID: </span><a href="/pubmed/7287172" target="_blank">7287172</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cornelia%20de%20Lange%20syndrome%206%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 (119)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38039993">Lenvatinib plus pembrolizumab versus lenvatinib plus placebo for advanced hepatocellular carcinoma (LEAP-002): a randomised, double-blind, phase 3 trial.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Llovet JM,
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Kudo M,
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Merle P,
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Meyer T,
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Qin S,
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Ikeda M,
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Xu R,
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Edeline J,
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Ryoo BY,
|
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Ren Z,
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Masi G,
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Kwiatkowski M,
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Lim HY,
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Kim JH,
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Breder V,
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Kumada H,
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Cheng AL,
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Galle PR,
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Kaneko S,
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Wang A,
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Mody K,
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Dutcus C,
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Dubrovsky L,
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Siegel AB,
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Finn RS;
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LEAP-002 Investigators</span><br />
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<span class="medgenPMjournal">Lancet Oncol</span>
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2023 Dec;24(12):1399-1410.
|
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doi: 10.1016/S1470-2045(23)00469-2.
|
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<span class="bold">PMID: </span><a href="/pubmed/38039993" target="_blank">38039993</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/31157366">Effect of Intraoperative High Positive End-Expiratory Pressure (PEEP) With Recruitment Maneuvers vs Low PEEP on Postoperative Pulmonary Complications in Obese Patients: A Randomized Clinical Trial.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Writing Committee for the PROBESE Collaborative Group of the PROtective VEntilation Network (PROVEnet) for the Clinical Trial Network of the European Society of Anaesthesiology,
|
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Bluth T,
|
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Serpa Neto A,
|
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Schultz MJ,
|
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Pelosi P,
|
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Gama de Abreu M;
|
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PROBESE Collaborative Group,
|
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Bluth T,
|
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Bobek I,
|
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Canet JC,
|
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Cinnella G,
|
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de Baerdemaeker L,
|
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Gama de Abreu M,
|
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Gregoretti C,
|
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Hedenstierna G,
|
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Hemmes SNT,
|
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Hiesmayr M,
|
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Hollmann MW,
|
||
Jaber S,
|
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Laffey J,
|
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Licker MJ,
|
||
Markstaller K,
|
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Matot I,
|
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Mills GH,
|
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Mulier JP,
|
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Pelosi P,
|
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Putensen C,
|
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Rossaint R,
|
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Schmitt J,
|
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Schultz MJ,
|
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Senturk M,
|
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Serpa Neto A,
|
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Severgnini P,
|
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Sprung J,
|
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Vidal Melo MF,
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Wrigge H</span><br />
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<span class="medgenPMjournal">JAMA</span>
|
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2019 Jun 18;321(23):2292-2305.
|
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doi: 10.1001/jama.2019.7505.
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<span class="bold">PMID: </span><a href="/pubmed/31157366" target="_blank">31157366</a><a href="/pmc/articles/PMC6582260" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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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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Feinstein J,
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Romani P,
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Goldson E,
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Blackmer A</span><br />
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<span class="medgenPMjournal">Pharmacotherapy</span>
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2019 Jun;39(6):645-664.
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Epub 2019 Mar 27
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doi: 10.1002/phar.2238.
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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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|
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<div class="nl"><a target="_blank" href="/pubmed/28670758">Congenital Long QT syndrome and torsade de pointes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">El-Sherif N,
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Turitto G,
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Boutjdir M</span><br />
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<span class="medgenPMjournal">Ann Noninvasive Electrocardiol</span>
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2017 Nov;22(6)
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Epub 2017 Jul 2
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<span class="bold">PMID: </span><a href="/pubmed/28670758" target="_blank">28670758</a><a href="/pmc/articles/PMC6931590" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/11309227">Current aspects of colchicine therapy -- classical indications and new therapeutic uses.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lange U,
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Schumann C,
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Schmidt KL</span><br />
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<span class="medgenPMjournal">Eur J Med Res</span>
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2001 Apr 20;6(4):150-60.
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<span class="bold">PMID: </span><a href="/pubmed/11309227" target="_blank">11309227</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cornelia%20de%20Lange%20syndrome%206%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 (57)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38410936">Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gallagher D,
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Pérez-Palma E,
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Bruenger T,
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Ghanty I,
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Brilstra E,
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Ceulemans B,
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Chemaly N,
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de Lange I,
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Depienne C,
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Guerrini R,
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Mei D,
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Møller RS,
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Nabbout R,
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Regan BM,
|
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Schneider AL,
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Scheffer IE,
|
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Schoonjans AS,
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Symonds JD,
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Weckhuysen S,
|
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Zuberi SM,
|
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Lal D,
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Brunklaus A</span><br />
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<span class="medgenPMjournal">Epilepsia</span>
|
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2024 Apr;65(4):1046-1059.
|
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Epub 2024 Feb 27
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doi: 10.1111/epi.17882.
|
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<span class="bold">PMID: </span><a href="/pubmed/38410936" target="_blank">38410936</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/35074891">Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Brunklaus A,
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Pérez-Palma E,
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Ghanty I,
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Xinge J,
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Brilstra E,
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Ceulemans B,
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Chemaly N,
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de Lange I,
|
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Depienne C,
|
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Guerrini R,
|
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Mei D,
|
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Møller RS,
|
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Nabbout R,
|
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Regan BM,
|
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Schneider AL,
|
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Scheffer IE,
|
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Schoonjans AS,
|
||
Symonds JD,
|
||
Weckhuysen S,
|
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Kattan MW,
|
||
Zuberi SM,
|
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Lal D</span><br />
|
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<span class="medgenPMjournal">Neurology</span>
|
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2022 Mar 15;98(11):e1163-e1174.
|
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Epub 2022 Jan 24
|
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doi: 10.1212/WNL.0000000000200028.
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<span class="bold">PMID: </span><a href="/pubmed/35074891" target="_blank">35074891</a><a href="/pmc/articles/PMC8935441" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32762940">Cornelia de Lange syndrome and congenital diaphragmatic hernia.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Gupta VS,
|
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Khan AM,
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Ebanks AH,
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Lally PA,
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Lally KP,
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Harting MT;
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Congenital Diaphragmatic Hernia Study Group</span><br />
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<span class="medgenPMjournal">J Pediatr Surg</span>
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2021 Apr;56(4):697-699.
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Epub 2020 Jun 11
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<span class="bold">PMID: </span><a href="/pubmed/32762940" target="_blank">32762940</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31157366">Effect of Intraoperative High Positive End-Expiratory Pressure (PEEP) With Recruitment Maneuvers vs Low PEEP on Postoperative Pulmonary Complications in Obese Patients: A Randomized Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Writing Committee for the PROBESE Collaborative Group of the PROtective VEntilation Network (PROVEnet) for the Clinical Trial Network of the European Society of Anaesthesiology,
|
||
Bluth T,
|
||
Serpa Neto A,
|
||
Schultz MJ,
|
||
Pelosi P,
|
||
Gama de Abreu M;
|
||
PROBESE Collaborative Group,
|
||
Bluth T,
|
||
Bobek I,
|
||
Canet JC,
|
||
Cinnella G,
|
||
de Baerdemaeker L,
|
||
Gama de Abreu M,
|
||
Gregoretti C,
|
||
Hedenstierna G,
|
||
Hemmes SNT,
|
||
Hiesmayr M,
|
||
Hollmann MW,
|
||
Jaber S,
|
||
Laffey J,
|
||
Licker MJ,
|
||
Markstaller K,
|
||
Matot I,
|
||
Mills GH,
|
||
Mulier JP,
|
||
Pelosi P,
|
||
Putensen C,
|
||
Rossaint R,
|
||
Schmitt J,
|
||
Schultz MJ,
|
||
Senturk M,
|
||
Serpa Neto A,
|
||
Severgnini P,
|
||
Sprung J,
|
||
Vidal Melo MF,
|
||
Wrigge H</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2019 Jun 18;321(23):2292-2305.
|
||
doi: 10.1001/jama.2019.7505.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31157366" target="_blank">31157366</a><a href="/pmc/articles/PMC6582260" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28629661">Cornelia de Lange syndrome: Congenital heart disease in 149 patients.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Ayerza Casas A,
|
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Puisac Uriol B,
|
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Teresa Rodrigo ME,
|
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Hernández Marcos M,
|
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Ramos Fuentes FJ,
|
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Pie Juste J</span><br />
|
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<span class="medgenPMjournal">Med Clin (Barc)</span>
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2017 Oct 11;149(7):300-302.
|
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Epub 2017 Jun 16
|
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doi: 10.1016/j.medcli.2017.03.051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28629661" target="_blank">28629661</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cornelia%20de%20Lange%20syndrome%206%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 (74)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<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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Rickert-Sperling S</span><br />
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<span class="medgenPMjournal">Adv Exp Med Biol</span>
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|
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doi: 10.1007/978-3-031-44087-8_27.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38884729" target="_blank">38884729</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38410936">Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gallagher D,
|
||
Pérez-Palma E,
|
||
Bruenger T,
|
||
Ghanty I,
|
||
Brilstra E,
|
||
Ceulemans B,
|
||
Chemaly N,
|
||
de Lange I,
|
||
Depienne C,
|
||
Guerrini R,
|
||
Mei D,
|
||
Møller RS,
|
||
Nabbout R,
|
||
Regan BM,
|
||
Schneider AL,
|
||
Scheffer IE,
|
||
Schoonjans AS,
|
||
Symonds JD,
|
||
Weckhuysen S,
|
||
Zuberi SM,
|
||
Lal D,
|
||
Brunklaus A</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2024 Apr;65(4):1046-1059.
|
||
Epub 2024 Feb 27
|
||
doi: 10.1111/epi.17882.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38410936" target="_blank">38410936</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35074891">Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brunklaus A,
|
||
Pérez-Palma E,
|
||
Ghanty I,
|
||
Xinge J,
|
||
Brilstra E,
|
||
Ceulemans B,
|
||
Chemaly N,
|
||
de Lange I,
|
||
Depienne C,
|
||
Guerrini R,
|
||
Mei D,
|
||
Møller RS,
|
||
Nabbout R,
|
||
Regan BM,
|
||
Schneider AL,
|
||
Scheffer IE,
|
||
Schoonjans AS,
|
||
Symonds JD,
|
||
Weckhuysen S,
|
||
Kattan MW,
|
||
Zuberi SM,
|
||
Lal D</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2022 Mar 15;98(11):e1163-e1174.
|
||
Epub 2022 Jan 24
|
||
doi: 10.1212/WNL.0000000000200028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35074891" target="_blank">35074891</a><a href="/pmc/articles/PMC8935441" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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 />
|
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<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/31157366">Effect of Intraoperative High Positive End-Expiratory Pressure (PEEP) With Recruitment Maneuvers vs Low PEEP on Postoperative Pulmonary Complications in Obese Patients: A Randomized Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Writing Committee for the PROBESE Collaborative Group of the PROtective VEntilation Network (PROVEnet) for the Clinical Trial Network of the European Society of Anaesthesiology,
|
||
Bluth T,
|
||
Serpa Neto A,
|
||
Schultz MJ,
|
||
Pelosi P,
|
||
Gama de Abreu M;
|
||
PROBESE Collaborative Group,
|
||
Bluth T,
|
||
Bobek I,
|
||
Canet JC,
|
||
Cinnella G,
|
||
de Baerdemaeker L,
|
||
Gama de Abreu M,
|
||
Gregoretti C,
|
||
Hedenstierna G,
|
||
Hemmes SNT,
|
||
Hiesmayr M,
|
||
Hollmann MW,
|
||
Jaber S,
|
||
Laffey J,
|
||
Licker MJ,
|
||
Markstaller K,
|
||
Matot I,
|
||
Mills GH,
|
||
Mulier JP,
|
||
Pelosi P,
|
||
Putensen C,
|
||
Rossaint R,
|
||
Schmitt J,
|
||
Schultz MJ,
|
||
Senturk M,
|
||
Serpa Neto A,
|
||
Severgnini P,
|
||
Sprung J,
|
||
Vidal Melo MF,
|
||
Wrigge H</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2019 Jun 18;321(23):2292-2305.
|
||
doi: 10.1001/jama.2019.7505.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31157366" target="_blank">31157366</a><a href="/pmc/articles/PMC6582260" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cornelia%20de%20Lange%20syndrome%206%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 (77)</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/39665337">Unintended consequences of measures implemented in the school setting to contain the COVID-19 pandemic: a scoping review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Littlecott H,
|
||
Krishnaratne S,
|
||
Hummel J,
|
||
Orban E,
|
||
Heinsohn T,
|
||
Noel-Storr AH,
|
||
Strahwald B,
|
||
Jung-Sievers C,
|
||
Ravens-Sieberer U,
|
||
Rehfuess E</span><br />
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||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2024 Dec 12;12(12):CD015397.
|
||
doi: 10.1002/14651858.CD015397.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39665337" target="_blank">39665337</a><a href="/pmc/articles/PMC11635916" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34588486">Prospective postmortem evaluation of 735 consecutive SARS-CoV-2-associated death cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fitzek A,
|
||
Schädler J,
|
||
Dietz E,
|
||
Ron A,
|
||
Gerling M,
|
||
Kammal AL,
|
||
Lohner L,
|
||
Falck C,
|
||
Möbius D,
|
||
Goebels H,
|
||
Gerberding AL,
|
||
Schröder AS,
|
||
Sperhake JP,
|
||
Klein A,
|
||
Fröb D,
|
||
Mushumba H,
|
||
Wilmes S,
|
||
Anders S,
|
||
Kniep I,
|
||
Heinrich F,
|
||
Langenwalder F,
|
||
Meißner K,
|
||
Lange P,
|
||
Zapf A,
|
||
Püschel K,
|
||
Heinemann A,
|
||
Glatzel M,
|
||
Matschke J,
|
||
Aepfelbacher M,
|
||
Lütgehetmann M,
|
||
Steurer S,
|
||
Thorns C,
|
||
Edler C,
|
||
Ondruschka B</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2021 Sep 29;11(1):19342.
|
||
doi: 10.1038/s41598-021-98499-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34588486" target="_blank">34588486</a><a href="/pmc/articles/PMC8481286" target="_blank" class="PubMedFree">Free PMC Article</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/21883855">Systematic review of surgical treatments for benign prostatic hyperplasia and presentation of an approach to investigate therapeutic equivalence (non-inferiority).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biester K,
|
||
Skipka G,
|
||
Jahn R,
|
||
Buchberger B,
|
||
Rohde V,
|
||
Lange S</span><br />
|
||
<span class="medgenPMjournal">BJU Int</span>
|
||
2012 Mar;109(5):722-30.
|
||
Epub 2011 Aug 22
|
||
doi: 10.1111/j.1464-410X.2011.10512.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21883855" target="_blank">21883855</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cornelia%20de%20Lange%20syndrome%206%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 (4)</a></div></div>
|
||
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|
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|
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|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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