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<meta name="keywords" content="C1275808, autonomic control, congenital failure of, cchs, cchs - congenital central hypoventilation, central hypoventilation syndrome, congenital, congenital central hypoventilation, congenital central hypoventilation syndrome, congenital failure of autonomic control, congenital ondine curse, congenital pulmonary hypoventilation, disease or syndrome, idiopathic congenital central alveolar hypoventilation, ondine curse, ondine curse, congenital, primary alveolar hypoventilation, 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="Congenital central hypoventilation syndrome (CCHS) represents the extreme manifestation of autonomic nervous system dysregulation (ANSD) with the hallmark of disordered respiratory control. The age of initial recognition of CCHS ranges from neonatal onset (i.e., in the first 30 days of life) to (less commonly) later onset (from 1 month to adulthood). Neonatal-onset CCHS is characterized by apparent hypoventilation with monotonous respiratory rates and shallow breathing either during sleep only or while awake as well as asleep; ANSD including decreased heart rate beat-to-beat variability and sinus pauses; altered temperature regulation; and altered pupillary response to light. Some children have altered development of neural crest-derived structures (i.e., Hirschsprung disease, altered esophageal motility/dysphagia, and severe constipation even in the absence of Hirschsprung disease) and/or tumors of neural crest origin (neuroblastoma, ganglioneuroma, and ganglioneuroblastoma). Neurocognitive delay is variable, and possibly influenced by cyanotic breath holding, prolonged sinus pauses, need for 24-hour/day artificial ventilation, and seizures. Later-onset CCHS is characterized by alveolar hypoventilation during sleep and attenuated manifestations of ANSD." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=220902
|
||
ConceptID=C1275808
|
||
-->
|
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<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1427/bin/ondine-Image002.gif" src-large="/books/NBK1427/bin/ondine-Image002.jpg" /></a><br /><a href="/books/NBK1427/figure/ondine.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1427/bin/ondine-Image001.gif" src-large="/books/NBK1427/bin/ondine-Image001.jpg" /></a><br /><a href="/books/NBK1427/figure/ondine.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital central hypoventilation</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220902</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:">C1275808</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Congenital Central Hypoventilation Syndrome; Congenital failure of autonomic control; Idiopathic congenital central alveolar hypoventilation; Primary alveolar hypoventilation</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>CCHS - Congenital central hypoventilation (399040002); Congenital pulmonary hypoventilation (399040002); Congenital central hypoventilation (399040002); Ondine curse (399040002)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/283446">MYO1H</a>, <a target="_blank" href="/gene/10660">LBX1</a>, <a target="_blank" href="/gene/8929">PHOX2B</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0800031" target="_blank">MONDO:0800031</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/209880" target="_blank">209880</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS209880" target="_blank">PS209880</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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||
<div class="portlet mgSection" id="ID_101">
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||
<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>
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||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1427" target="_blank">Congenital Central Hypoventilation Syndrome</a></div><div>Congenital central hypoventilation syndrome (CCHS) represents the extreme manifestation of autonomic nervous system dysregulation (ANSD) with the hallmark of disordered respiratory control. The age of initial recognition of CCHS ranges from neonatal onset (i.e., in the first 30 days of life) to (less commonly) later onset (from 1 month to adulthood). Neonatal-onset CCHS is characterized by apparent hypoventilation with monotonous respiratory rates and shallow breathing either during sleep only or while awake as well as asleep; ANSD including decreased heart rate beat-to-beat variability and sinus pauses; altered temperature regulation; and altered pupillary response to light. Some children have altered development of neural crest-derived structures (i.e., Hirschsprung disease, altered esophageal motility/dysphagia, and severe constipation even in the absence of Hirschsprung disease) and/or tumors of neural crest origin (neuroblastoma, ganglioneuroma, and ganglioneuroblastoma). Neurocognitive delay is variable, and possibly influenced by cyanotic breath holding, prolonged sinus pauses, need for 24-hour/day artificial ventilation, and seizures. Later-onset CCHS is characterized by alveolar hypoventilation during sleep and attenuated manifestations of ANSD. [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/NBK1427#ondine.Summary" target="NBK1427">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1427#ondine.Diagnosis" target="NBK1427">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1427#ondine.Clinical_Characteristics" target="NBK1427">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1427#ondine.Genetically_Related_Allelic_disor" target="NBK1427">Genetically Related (Allelic) disorders</a> | <a class="medgenPMinfo" href="/books/NBK1427#ondine.Differential_Diagnosis" target="NBK1427">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1427#ondine.Management" target="NBK1427">Management</a> | <a class="medgenPMinfo" href="/books/NBK1427#ondine.Genetic_Counseling" target="NBK1427">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1427#ondine.Resources" target="NBK1427">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1427#ondine.Molecular_Genetics" target="NBK1427">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1427#ondine.Chapter_Notes" target="NBK1427">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1427#ondine.References" target="NBK1427">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Debra E Weese-Mayer | Casey M Rand | Ilya Khaytin<i>, et. al.</i> <a href="/books/NBK1427" target="NBK1427" title="NCBI Bookshelf: Congenital Central Hypoventilation Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Congenital central hypoventilation syndrome (CCHS) is a disorder that affects normal breathing. People with this disorder take shallow breaths (hypoventilate), especially during sleep, resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Ordinarily, the part of the nervous system that controls involuntary body processes (autonomic nervous system) would react to such an imbalance by stimulating the individual to breathe more deeply or wake up. This nervous system reaction is impaired in people with CCHS. They must be supported with a machine to help them breathe (mechanical ventilation) or a device that stimulates a normal breathing pattern (diaphragm pacemaker). Some affected individuals need this support 24 hours a day, while others need it only at night.<br /><br />Symptoms of CCHS usually become apparent shortly after birth when affected infants hypoventilate upon falling asleep. In these infants, a lack of oxygen in the blood often causes a bluish appearance of the skin or lips (cyanosis). In some milder cases, CCHS may not become apparent until later in life.<br /><br />In addition to the breathing problem, people with CCHS may have difficulty regulating their heart rate and blood pressure, for example, in response to exercise or changes in body position. They also have decreased perception of pain, low body temperature, and occasional episodes of heavy sweating.<br /><br />People with CCHS may have additional problems affecting the nervous system. About 20 percent of people with CCHS have abnormalities in the nerves that control the digestive tract (Hirschsprung disease), resulting in severe constipation, intestinal blockage, and enlargement of the colon. (Some researchers refer to the combination of CCHS and Hirschsprung disease as Haddad syndrome.) Some affected individuals develop learning difficulties or other neurological problems. People with CCHS are also at increased risk of developing certain tumors of the nervous system called neuroblastomas, ganglioneuromas, and ganglioneuroblastomas.<br /><br />Additionally, individuals with CCHS usually have eye abnormalities, including a decreased response of the pupils to light. People with CCHS, especially children, may have a characteristic appearance with a short, wide, somewhat flattened face often described as "box-shaped."<br /><br />In CCHS, life expectancy and the extent of any intellectual disabilities depend on the severity of the disorder, timing of the diagnosis, and the success of treatment. <a target="_blank" href="https://medlineplus.gov/genetics/condition/congenital-central-hypoventilation-syndrome">https://medlineplus.gov/genetics/condition/congenital-central-hypoventilation-syndrome</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1275808[DISCUI]&test_type=Clinical" ref="ncbi_uid=220902">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1275808[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=220902">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=220902" target="_blank" href="/omim/209880">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1427/" ref="ncbi_uid=220902">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=220902" ref="ncbi_uid=220902">V</a></span></span><span class="TLline">Congenital central hypoventilation</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5561964[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1794174">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1794174" target="_blank" href="/omim/604255">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1794174" ref="ncbi_uid=1794174">V</a></span></span><span class="TLline"><a href="/medgen/1794174" ref="tree=GTR&ncbi_uid=1794174&link_uid=1794174" title="View MedGen record for 'Central hypoventilation syndrome, congenital, 3'">Central hypoventilation syndrome, congenital, 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5562075[DISCUI]&test_type=Clinical" ref="ncbi_uid=1794285">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1794285" target="_blank" href="/omim/209880">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1427/" ref="ncbi_uid=1794285">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1794285" ref="ncbi_uid=1794285">V</a></span></span><span class="TLline"><a href="/medgen/1794285" ref="tree=GTR&ncbi_uid=1794285&link_uid=1794285" title="View MedGen record for 'Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease'">Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5561963[DISCUI]&test_type=Clinical" ref="ncbi_uid=1794173">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1794173" target="_blank" href="/omim/614636">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1794173" ref="ncbi_uid=1794173">V</a></span></span><span class="TLline"><a href="/medgen/1794173" ref="tree=GTR&ncbi_uid=1794173&link_uid=1794173" title="View MedGen record for 'Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction'">Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/11688" ref="tree=MeSH" title="MedGen record for Syndromic disease">Syndromic disease</a></span><ul><li><span class="matched_ds">Congenital central hypoventilation</span><ul><li><span class="TLline"><a href="/medgen/1794174" ref="tree=MeSH" title="MedGen record for Central hypoventilation syndrome, congenital, 3">Central hypoventilation syndrome, congenital, 3</a></span></li><li><span class="TLline"><a href="/medgen/1794285" ref="tree=MeSH" title="MedGen record for Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease">Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease</a></span></li><li><span class="TLline"><a href="/medgen/1794173" ref="tree=MeSH" title="MedGen record for Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction">Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=2497&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Congenital central hypoventilation</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32958024">Guidelines for diagnosis and management of congenital central hypoventilation syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trang H,
|
||
Samuels M,
|
||
Ceccherini I,
|
||
Frerick M,
|
||
Garcia-Teresa MA,
|
||
Peters J,
|
||
Schoeber J,
|
||
Migdal M,
|
||
Markstrom A,
|
||
Ottonello G,
|
||
Piumelli R,
|
||
Estevao MH,
|
||
Senecic-Cala I,
|
||
Gnidovec-Strazisar B,
|
||
Pfleger A,
|
||
Porto-Abal R,
|
||
Katz-Salamon M</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 Sep 21;15(1):252.
|
||
doi: 10.1186/s13023-020-01460-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32958024" target="_blank">32958024</a><a href="/pmc/articles/PMC7503443" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29486608">Congenital central hypoventilation syndrome: diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maloney MA,
|
||
Kun SS,
|
||
Keens TG,
|
||
Perez IA</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Respir Med</span>
|
||
2018 Apr;12(4):283-292.
|
||
Epub 2018 Feb 28
|
||
doi: 10.1080/17476348.2018.1445970.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29486608" target="_blank">29486608</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10390427">Idiopathic congenital central hypoventilation syndrome: diagnosis and management. American Thoracic Society.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
1999 Jul;160(1):368-73.
|
||
doi: 10.1164/ajrccm.160.1.16010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10390427" target="_blank">10390427</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22congenital%20central%20hypoventilation%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (25)</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/38860978">Neuroblastoma Predisposition and Surveillance-An Update from the 2023 AACR Childhood Cancer Predisposition Workshop.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kamihara J,
|
||
Diller LR,
|
||
Foulkes WD,
|
||
Michaeli O,
|
||
Nakano Y,
|
||
Pajtler KW,
|
||
Perrino M,
|
||
Scollon SR,
|
||
Stewart DR,
|
||
Voss S,
|
||
Weksberg R,
|
||
Hansford JR,
|
||
Brodeur GM</span><br />
|
||
<span class="medgenPMjournal">Clin Cancer Res</span>
|
||
2024 Aug 1;30(15):3137-3143.
|
||
doi: 10.1158/1078-0432.CCR-24-0237.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38860978" target="_blank">38860978</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37014159">Decannulation in congenital central hypoventilation syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ghelab Z,
|
||
Bokov P,
|
||
Teissier N,
|
||
Micaelli D,
|
||
Patout M,
|
||
Hayotte A,
|
||
Dauger S,
|
||
Delclaux C,
|
||
Dudoignon B</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2023 Jun;58(6):1761-1767.
|
||
Epub 2023 Apr 4
|
||
doi: 10.1002/ppul.26399.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37014159" target="_blank">37014159</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30987797">Question 3: What are the indications for and challenges in performing polysomnography in infants?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cielo CM</span><br />
|
||
<span class="medgenPMjournal">Paediatr Respir Rev</span>
|
||
2019 Apr;30:27-29.
|
||
Epub 2019 Feb 28
|
||
doi: 10.1016/j.prrv.2019.01.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30987797" target="_blank">30987797</a><a href="/pmc/articles/PMC6589377" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20188865">Retrotrapezoid nucleus and parafacial respiratory group.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guyenet PG,
|
||
Mulkey DK</span><br />
|
||
<span class="medgenPMjournal">Respir Physiol Neurobiol</span>
|
||
2010 Oct 31;173(3):244-55.
|
||
Epub 2010 Feb 25
|
||
doi: 10.1016/j.resp.2010.02.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20188865" target="_blank">20188865</a><a href="/pmc/articles/PMC2891992" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12571470">Treatment of neuroblastoma in patients with neurocristopathy syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nemecek ER,
|
||
Sawin RW,
|
||
Park J</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Hematol Oncol</span>
|
||
2003 Feb;25(2):159-62.
|
||
doi: 10.1097/00043426-200302000-00015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12571470" target="_blank">12571470</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20central%20hypoventilation%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 (166)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37828049">Hirschsprung disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Montalva L,
|
||
Cheng LS,
|
||
Kapur R,
|
||
Langer JC,
|
||
Berrebi D,
|
||
Kyrklund K,
|
||
Pakarinen M,
|
||
de Blaauw I,
|
||
Bonnard A,
|
||
Gosain A</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2023 Oct 12;9(1):54.
|
||
doi: 10.1038/s41572-023-00465-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37828049" target="_blank">37828049</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37599406">Congenital central hypoventilation syndrome in children: a Hong Kong perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hon KL,
|
||
Fung GPG,
|
||
Leung AKC,
|
||
Leung KKY,
|
||
Ng DKK</span><br />
|
||
<span class="medgenPMjournal">Hong Kong Med J</span>
|
||
2023 Aug;29(4):342-348.
|
||
doi: 10.12809/hkmj219260.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37599406" target="_blank">37599406</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32958024">Guidelines for diagnosis and management of congenital central hypoventilation syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trang H,
|
||
Samuels M,
|
||
Ceccherini I,
|
||
Frerick M,
|
||
Garcia-Teresa MA,
|
||
Peters J,
|
||
Schoeber J,
|
||
Migdal M,
|
||
Markstrom A,
|
||
Ottonello G,
|
||
Piumelli R,
|
||
Estevao MH,
|
||
Senecic-Cala I,
|
||
Gnidovec-Strazisar B,
|
||
Pfleger A,
|
||
Porto-Abal R,
|
||
Katz-Salamon M</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 Sep 21;15(1):252.
|
||
doi: 10.1186/s13023-020-01460-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32958024" target="_blank">32958024</a><a href="/pmc/articles/PMC7503443" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31582675">An unusual pacing artifact.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abualsuod A,
|
||
Paydak H,
|
||
Pothineni NV</span><br />
|
||
<span class="medgenPMjournal">Turk Kardiyol Dern Ars</span>
|
||
2019 Oct;47(7):616-618.
|
||
doi: 10.5543/tkda.2018.52386.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31582675" target="_blank">31582675</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23572305">Haddad syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ławicka M,
|
||
Sawicka J,
|
||
Bąkowska G</span><br />
|
||
<span class="medgenPMjournal">Anaesthesiol Intensive Ther</span>
|
||
2013 Jan-Mar;45(1):30-2.
|
||
doi: 10.5603/AIT.2013.0006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23572305" target="_blank">23572305</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20central%20hypoventilation%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 (235)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27918326">Anesthetic Considerations for Patients With Congenital Central Hypoventilation Syndrome: A Systematic Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Basu SM,
|
||
Chung FF,
|
||
AbdelHakim SF,
|
||
Wong J</span><br />
|
||
<span class="medgenPMjournal">Anesth Analg</span>
|
||
2017 Jan;124(1):169-178.
|
||
doi: 10.1213/ANE.0000000000001470.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27918326" target="_blank">27918326</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23231723">Autonomic dysfunction of glucose homoeostasis in congenital central hypoventilation syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marics G,
|
||
Amiel J,
|
||
Vatai B,
|
||
Lódi C,
|
||
Mikos B,
|
||
Tóth-Heyn P</span><br />
|
||
<span class="medgenPMjournal">Acta Paediatr</span>
|
||
2013 Apr;102(4):e178-80.
|
||
Epub 2012 Dec 29
|
||
doi: 10.1111/apa.12125.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23231723" target="_blank">23231723</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21801857">Congenital central hypoventilation syndrome and desogestrel: a call for caution: addendum to "C. Straus, H. Trang, M.H. Becquemin, P. Touraine, T. Similowski, Chemosensitivity recovery in Ondine's curse syndrome under treatment with desogestrel" [Respir. Physiol. Neurobiol. 171 (2010) 171-174].</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Straus C,
|
||
Similowski T</span><br />
|
||
<span class="medgenPMjournal">Respir Physiol Neurobiol</span>
|
||
2011 Sep 15;178(2):357-8.
|
||
Epub 2011 Jul 23
|
||
doi: 10.1016/j.resp.2011.07.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21801857" target="_blank">21801857</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18676411">Mask ventilation in the early management of congenital central hypoventilation syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramesh P,
|
||
Boit P,
|
||
Samuels M</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child Fetal Neonatal Ed</span>
|
||
2008 Nov;93(6):F400-3.
|
||
Epub 2008 Aug 1
|
||
doi: 10.1136/adc.2008.139931.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18676411" target="_blank">18676411</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8647794">Panic disorder and agoraphobia: hypothesis hothouse.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klein DF</span><br />
|
||
<span class="medgenPMjournal">J Clin Psychiatry</span>
|
||
1996;57 Suppl 6:21-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8647794" target="_blank">8647794</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20central%20hypoventilation%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 (40)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37204326">Clinical Features of COVID-19 in Patients with Congenital Central Hypoventilation Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kasi AS,
|
||
Riccitelli M,
|
||
Kun SS,
|
||
Westbrook AL,
|
||
Silva GL,
|
||
Keens TG,
|
||
Guglani L</span><br />
|
||
<span class="medgenPMjournal">Pediatr Allergy Immunol Pulmonol</span>
|
||
2023 Jun;36(2):52-56.
|
||
Epub 2023 May 18
|
||
doi: 10.1089/ped.2023.0004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37204326" target="_blank">37204326</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35554785">Perioperative outcomes and the effects of anesthesia in congenital central hypoventilation patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chang GY,
|
||
Salazar T,
|
||
Karnwal A,
|
||
Kun SS,
|
||
Ellashek J,
|
||
Shin CE,
|
||
McComb JG,
|
||
Keens TG,
|
||
Perez IA</span><br />
|
||
<span class="medgenPMjournal">Sleep Breath</span>
|
||
2023 May;27(2):505-510.
|
||
Epub 2022 May 13
|
||
doi: 10.1007/s11325-022-02632-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35554785" target="_blank">35554785</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29486608">Congenital central hypoventilation syndrome: diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maloney MA,
|
||
Kun SS,
|
||
Keens TG,
|
||
Perez IA</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Respir Med</span>
|
||
2018 Apr;12(4):283-292.
|
||
Epub 2018 Feb 28
|
||
doi: 10.1080/17476348.2018.1445970.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29486608" target="_blank">29486608</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22102181">Late-onset, insidious course and invasive treatment of congenital central hypoventilation syndrome in a case with the Phox2B mutation: case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bittencourt LR,
|
||
Pedrazzoli M,
|
||
Yagihara F,
|
||
Luz GP,
|
||
Garbuio S,
|
||
Moreira GA,
|
||
Perfeito JA,
|
||
Tufik S</span><br />
|
||
<span class="medgenPMjournal">Sleep Breath</span>
|
||
2012 Dec;16(4):951-5.
|
||
Epub 2011 Nov 19
|
||
doi: 10.1007/s11325-011-0614-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22102181" target="_blank">22102181</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10390427">Idiopathic congenital central hypoventilation syndrome: diagnosis and management. American Thoracic Society.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
1999 Jul;160(1):368-73.
|
||
doi: 10.1164/ajrccm.160.1.16010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10390427" target="_blank">10390427</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20central%20hypoventilation%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/38177505">Disease-associated polyalanine expansion mutations impair UBA6-dependent ubiquitination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amer-Sarsour F,
|
||
Falik D,
|
||
Berdichevsky Y,
|
||
Kordonsky A,
|
||
Eid S,
|
||
Rabinski T,
|
||
Ishtayeh H,
|
||
Cohen-Adiv S,
|
||
Braverman I,
|
||
Blumen SC,
|
||
Laviv T,
|
||
Prag G,
|
||
Vatine GD,
|
||
Ashkenazi A</span><br />
|
||
<span class="medgenPMjournal">EMBO J</span>
|
||
2024 Jan;43(2):250-276.
|
||
Epub 2024 Jan 2
|
||
doi: 10.1038/s44318-023-00018-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38177505" target="_blank">38177505</a><a href="/pmc/articles/PMC10897158" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37014159">Decannulation in congenital central hypoventilation syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ghelab Z,
|
||
Bokov P,
|
||
Teissier N,
|
||
Micaelli D,
|
||
Patout M,
|
||
Hayotte A,
|
||
Dauger S,
|
||
Delclaux C,
|
||
Dudoignon B</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2023 Jun;58(6):1761-1767.
|
||
Epub 2023 Apr 4
|
||
doi: 10.1002/ppul.26399.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37014159" target="_blank">37014159</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35574731">Neurocognitive monitoring in congenital central hypoventilation syndrome with the NIH Toolbox®.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Welbel RZ,
|
||
Rand CM,
|
||
Zhou A,
|
||
Fadl-Alla A,
|
||
Chen ML,
|
||
Weese-Mayer DE,
|
||
Zelko FA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2022 Sep;57(9):2040-2047.
|
||
Epub 2022 May 27
|
||
doi: 10.1002/ppul.25973.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35574731" target="_blank">35574731</a><a href="/pmc/articles/PMC9541049" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27918326">Anesthetic Considerations for Patients With Congenital Central Hypoventilation Syndrome: A Systematic Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Basu SM,
|
||
Chung FF,
|
||
AbdelHakim SF,
|
||
Wong J</span><br />
|
||
<span class="medgenPMjournal">Anesth Analg</span>
|
||
2017 Jan;124(1):169-178.
|
||
doi: 10.1213/ANE.0000000000001470.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27918326" target="_blank">27918326</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21801857">Congenital central hypoventilation syndrome and desogestrel: a call for caution: addendum to "C. Straus, H. Trang, M.H. Becquemin, P. Touraine, T. Similowski, Chemosensitivity recovery in Ondine's curse syndrome under treatment with desogestrel" [Respir. Physiol. Neurobiol. 171 (2010) 171-174].</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Straus C,
|
||
Similowski T</span><br />
|
||
<span class="medgenPMjournal">Respir Physiol Neurobiol</span>
|
||
2011 Sep 15;178(2):357-8.
|
||
Epub 2011 Jul 23
|
||
doi: 10.1016/j.resp.2011.07.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21801857" target="_blank">21801857</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20central%20hypoventilation%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 (96)</a></div></div>
|
||
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|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36403185">Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Slattery SM,
|
||
Perez IA,
|
||
Ceccherini I,
|
||
Chen ML,
|
||
Kurek KC,
|
||
Yap KL,
|
||
Keens TG,
|
||
Khaytin I,
|
||
Ballard HA,
|
||
Sokol EA,
|
||
Mittal A,
|
||
Rand CM,
|
||
Weese-Mayer DE</span><br />
|
||
<span class="medgenPMjournal">Clin Auton Res</span>
|
||
2023 Jun;33(3):231-249.
|
||
Epub 2022 Nov 20
|
||
doi: 10.1007/s10286-022-00908-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36403185" target="_blank">36403185</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27918326">Anesthetic Considerations for Patients With Congenital Central Hypoventilation Syndrome: A Systematic Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Basu SM,
|
||
Chung FF,
|
||
AbdelHakim SF,
|
||
Wong J</span><br />
|
||
<span class="medgenPMjournal">Anesth Analg</span>
|
||
2017 Jan;124(1):169-178.
|
||
doi: 10.1213/ANE.0000000000001470.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27918326" target="_blank">27918326</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20central%20hypoventilation%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
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<div>
|
||
|
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||
<div class="rightCol mgCol">
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1275808%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (62)</a></li>
|
||
<li><a href="/gtr/tests?term=C1275808%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1275808%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1275808%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C1275808%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (78)</a></li>
|
||
<li><a href="/gtr/tests?term=C1275808%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (16)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1275808%5bDISCUI%5d" target="_blank">See all (97)</a></total></li>
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||
</ul></div>
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS209880" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Congenital%20central%20hypoventilation" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</div>
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22congenital%20central%20hypoventilation%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Congenital%20central%20hypoventilation%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/central_hypoventilation_syndrome_congenital_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Congenital%20central%20hypoventilation" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/congenital-central-hypoventilation-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/8535/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<h3>Reviews</h3>
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<a href="/pubmed/20301600" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
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|
||
<a href="/pubmed/clinical?term=Congenital%20central%20hypoventilation" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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|
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<li>
|
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<a href="/pubmed?term=Congenital%20central%20hypoventilation%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=220902" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=220902" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=220902" ref="log$=recordlinks">PubMed (OMIM)</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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Clear
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca6ebda68b6b5afc7bb21e">Congenital central hypoventilation</a>
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<div class="ralinkpop offscreen_noflow">Congenital central hypoventilation<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67ca6ebca68b6b5afc7bad65">C1275808[conceptid] <span class="number">(1)</span></a>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67ca6ebbf4a390645e48dc13">C1864910[trait identifier] AND "Labcorp Genetics (formerly Invita... <span class="number">(86)</span></a>
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<div class="ralinkpop offscreen_noflow">C1864910[trait identifier] AND "Labcorp Genetics (formerly Invitae), Labcorp"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67ca6eba84f3725e593e57cc">Congenital brain dysgenesis due to glutamine synthetase deficiency</a>
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<div class="ralinkpop offscreen_noflow">Congenital brain dysgenesis due to glutamine synthetase deficiency<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67ca6eb8b15b832ebc10f4fe">C1864910[conceptid] <span class="number">(1)</span></a>
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<div class="tertiary">MedGen</div>
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