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<!--
|
||
UID=52992
|
||
ConceptID=C0042454
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Velopharyngeal insufficiency<span class="h1sub">(VPI)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52992</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.">C0042454</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Congenital velopharyngeal incompetence; Palatopharyngeal incompetence</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Velopharyngeal incompetence (232416001); VPI - Velopharyngeal incompetence (232416001)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000220">HP:0000220</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008180" target="_blank">MONDO:0008180</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/167500" target="_blank">167500</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2291">ORPHA2291</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_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_867406"><div><strong>Abnormality of the voice</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867406</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.">C4021776</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867406">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20voice%22%5BClinical%20Features%5D%20OR%20867406%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52992"><div><strong>Velopharyngeal insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52992</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.">C0042454</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52992">Feature record</a> | <a href="/medgen?term=%22Velopharyngeal%20insufficiency%22%5BClinical%20Features%5D%20OR%2052992%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_756015"><div><strong>Cleft palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>756015</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.">C2981150</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/756015">Feature record</a> | <a href="/medgen?term=%22Cleft%20palate%22%5BClinical%20Features%5D%20OR%20756015%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_756015" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleft palate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52992" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Velopharyngeal insufficiency</a></span></li></ul></li><li><span class="TLline">Abnormality of the voice</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867406" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the voice</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></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 unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=52992" target="_blank" href="/omim/167500">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=52992" ref="ncbi_uid=52992">V</a></span></span><span class="TLline">Velopharyngeal insufficiency</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/871375" ref="tree=MeSH" title="MedGen record for Abnormality of the face">Abnormality of the face</a></span><ul><li><span class="TLline"><a href="/medgen/6447" ref="tree=MeSH" title="MedGen record for Abnormality of the mouth">Abnormality of the mouth</a></span><ul><li><span class="TLline"><a href="/medgen/1645271" ref="tree=MeSH" title="MedGen record for Abnormal oral morphology">Abnormal oral morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871391" ref="tree=MeSH" title="MedGen record for Abnormal oral cavity morphology">Abnormal oral cavity morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867440" ref="tree=MeSH" title="MedGen record for Abnormal palate morphology">Abnormal palate morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867598" ref="tree=MeSH" title="MedGen record for Abnormal soft palate morphology">Abnormal soft palate morphology</a></span><ul><li><span class="matched_ds">Velopharyngeal insufficiency</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_52992"><div><strong>Velopharyngeal insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52992</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.">C0042454</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/52992">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_59797"><div><strong>Dubowitz syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>59797</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.">C0175691</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/59797">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_65085"><div><strong>Velocardiofacial syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65085</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.">C0220704</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, characteristic facial features, and learning difficulties. Hearing loss can be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/65085">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_120519"><div><strong>Nager syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120519</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.">C0265245</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Nager syndrome is the prototype for a group of disorders collectively referred to as the acrofacial dysostoses (AFDs), which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of Nager syndrome include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hypoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported. The presence of anterior upper-limb defects and the typical lack of lower-limb involvement distinguishes Nager syndrome from Miller syndrome (263750), another rare AFD; however, distinguishing Nager syndrome from other AFDs, including Miller syndrome, can be challenging (summary by Bernier et al., 2012).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/120519">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_162881"><div><strong>Smith-Magenis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162881</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.">C0795864</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly coarse facial features that progress with age), developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbance, and childhood-onset abdominal obesity. Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. The majority of individuals function in the mild-to-moderate range of intellectual disability. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood. Sensory issues are frequently noted; these may include avoidant behavior, as well as repetitive seeking of textures, sounds, and experiences. Toileting difficulties are common. Significant anxiety is common as are problems with executive functioning, including inattention, distractibility, hyperactivity, and impulsivity. Maladaptive behaviors include frequent outbursts / temper tantrums, attention-seeking behaviors, opposition, aggression, and self-injurious behaviors including self-hitting, self-biting, skin picking, inserting foreign objects into body orifices (polyembolokoilamania), and yanking fingernails and/or toenails (onychotillomania). Among the stereotypic behaviors described, the spasmodic upper-body squeeze or "self-hug" seems to be highly associated with SMS. An underlying developmental asynchrony, specifically emotional maturity delayed beyond intellectual functioning, may also contribute to maladaptive behaviors in people with SMS.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/162881">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_167103"><div><strong>Myhre syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167103</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.">C0796081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Myhre syndrome is a multisystem progressive connective tissue disorder that often results in significant complications. The highly distinctive (and often severe) findings of joint stiffness, restrictive lung and cardiovascular disease, progressive and proliferative fibrosis, and thickening of the skin usually occur spontaneously. Some proliferation such as abnormal scarring or adhesions may follow trauma, invasive medical procedures, or surgery. Effusions of the heart, airways, lungs, uterus, and peritoneum may occur and can progress to fibrosis. Most affected individuals have characteristic facial features (short palpebral fissures, deeply set eyes, maxillary underdevelopment, short philtrum, thin vermilion of the upper lip, narrow mouth, and prognathism) and developmental delay / cognitive disability, typically in the mild-to-moderate range. Neurobehavioral issues may include autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and/or anxiety. Although immunoglobulin (Ig) G and IgA deficiency are rare, affected individuals can experience recurrent infections (including otitis media, sinusitis, mastoiditis, or croup). Hearing loss can progress over time. Growth may be impaired in early life. Most adolescents develop obesity. Eye findings can include refractive errors, astigmatism, corectopia, and optic nerve anomalies. Gastrointestinal (GI) issues may include gastroesophageal reflux disease, constipation, and encopresis. Less commonly, stenosis of the GI tract, Hirschsprung disease, and/or metabolic dysfunction-associated liver disease may be observed.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/167103">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_230818"><div><strong>Barber-Say syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>230818</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.">C1319466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Barber-Say syndrome (BBRSAY) is a rare congenital condition characterized by severe hypertrichosis, especially of the back, skin abnormalities such as hyperlaxity and redundancy, and facial dysmorphism, including macrostomia, eyelid deformities, ocular telecanthus, abnormal and low-set ears, bulbous nasal tip with hypoplastic alae nasi, and low frontal hairline (summary by Roche et al., 2010).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/230818">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_315656"><div><strong>Rapp-Hodgkin syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>315656</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.">C1785148</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/315656">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_436417"><div><strong>Chromosome 22q11.2 microduplication syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436417</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.">C2675369</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">22q11.2 duplication is a condition caused by an extra copy of a small piece of chromosome 22. The duplication occurs near the middle of the chromosome at a location designated q11.2.\n\nThe features of this condition vary widely, even among members of the same family. Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone (hypotonia). Many people with the duplication have no apparent physical or intellectual disabilities.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/436417">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_462289"><div><strong>THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462289</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.">C3150939</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">THOC6 intellectual disability syndrome is associated with moderate-to-severe developmental delay or intellectual disability; nonspecific dysmorphic facial features (tall forehead, deep-set eyes, short and upslanted palpebral fissures, epicanthal folds, and long nose with low-hanging columella); microcephaly (typically 2-3 SD below the mean); teeth anomalies (dental caries, malocclusion, and supernumerary teeth); cardiac anomalies (most typically atrial and/or ventricular septal defects); prenatal ventriculomegaly and hydrocephalus; cryptorchidism in males; and renal malformations (most commonly unilateral renal agenesis). More rarely, affected individuals may have hypergonadotropic hypogonadism (in females), seizures, poor growth, feeding difficulties, hearing loss, refractive errors and/or other eye abnormalities, vertebral anomalies, micro/retrognathia, and imperforate / anteriorly placed anus.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/462289">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_766431"><div><strong>Cornelia de Lange syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766431</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.">C3553517</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">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.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/766431">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_924419"><div><strong>Intellectual disability, X-linked 61</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924419</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.">C4283894</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Tonne-Kalscheuer syndrome (TOKAS) is an X-linked recessive multiple congenital anomaly disorder with 2 main presentations. Most patients exhibit global developmental delay apparent from early infancy, impaired intellectual development, speech delay, behavioral abnormalities, and abnormal gait. Affected individuals also have dysmorphic facial features that evolve with age, anomalies of the hands, feet, and nails, and urogenital abnormalities with hypogenitalism. A subset of more severely affected males develop congenital diaphragmatic hernia in utero, which may result in perinatal or premature death. Carrier females may have very mild skeletal or hormonal abnormalities (summary by Frints et al., 2019). Also see Fryns syndrome (229850), an autosomal recessive disorder with overlapping features.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/924419">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_929724"><div><strong>Adducted thumbs-arthrogryposis syndrome, Christian type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>929724</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.">C4304055</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A type of arthrogryposis with characteristics of congenital cleft palate, microcephaly, craniostenosis and arthrogryposis. Additional features include facial dysmorphism. Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalised muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleroedema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/929724">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1623077"><div><strong>Facial palsy, congenital, with ptosis and velopharyngeal dysfunction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1623077</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.">C4540277</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1623077">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1625659"><div><strong>Sweeney-Cox syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1625659</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.">C4540299</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Sweeney-Cox syndrome (SWCOS) is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1625659">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1782096"><div><strong>Coffin-Siris syndrome 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1782096</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.">C5444111</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Coffin-Siris syndrome-12 (CSS12) is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity. Affected individuals may have hypotonia and poor feeding in infancy. There are variable dysmorphic facial features, although most patients do not have the classic hypoplastic fifth digit/nail abnormalities that are often observed in other forms of CSS (Barish et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1782096">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1788293"><div><strong>Buratti-Harel syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1788293</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.">C5543351</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Buratti-Harel syndrome (BURHAS) is a neurodevelopmental disorder characterized by infantile hypotonia, global developmental delay, mild motor and speech delay, and mild to moderately impaired intellectual development. Some patients are able to attend special schools and show learning difficulties, whereas others are more severely affected. Patients have prominent dysmorphic facial features, including hypertelorism, downslanting palpebral fissures, strabismus, and small low-set ears. Additional features may include laryngomalacia with feeding difficulties and distal skeletal anomalies (summary by Buratti et al., 2021).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1788293">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1800921"><div><strong>Carey-Fineman-Ziter syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1800921</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.">C5677012</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Carey-Fineman-Ziter syndrome-2 (CFZS2) is an autosomal recessive neuromuscular disorder characterized by motor developmental delay, facial weakness, hypotonia, growth restriction, feeding difficulties, and velopharyngeal insufficiency. Additional variable features include hearing loss, scoliosis, joint contractures, cleft palate, hypoglossia, and abnormalities on neuroimaging studies (summary by Rahman et al., 2024). For a discussion of genetic heterogeneity of Carey-Fineman-Ziter syndrome, see CFZS1 (254940).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1800921">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1844202"><div><strong>Spondyloepimetaphyseal dysplasia, Guo-Campeau type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1844202</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.">C5882737</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">The Guo-Campeau type of spondyloepimetaphyseal dysplasia (SEMDGC) is characterized by severe bone dysplasia resulting in significant short stature with variable anomalies of the spine, pelvis, hips, and extremities, including short, rudimentary, or absent digits. Patients also exhibit variable facial dysmorphisms (Guo et al., 2023). Biallelic null mutations in the ERI1 gene have been reported to cause a less severe disorder, Hoxha-Alia syndrome, involving digital anomalies and mild intellectual disability (HXAL; 620662).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1844202">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_929724" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adducted thumbs-arthrogryposis syndrome, Christian type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_230818" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Barber-Say syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1788293" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Buratti-Harel syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1800921" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carey-Fineman-Ziter syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436417" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 22q11.2 microduplication syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (19)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1782096" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coffin-Siris syndrome 12</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766431" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cornelia de Lange syndrome 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_59797" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dubowitz syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1623077" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Facial palsy, congenital, with ptosis and velopharyngeal dysfunction</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_924419" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, X-linked 61</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_167103" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myhre syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120519" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nager syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_315656" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rapp-Hodgkin syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Smith-Magenis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1844202" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepimetaphyseal dysplasia, Guo-Campeau type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1625659" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sweeney-Cox syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462289" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_65085" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Velocardiofacial syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_52992" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Velopharyngeal insufficiency</a></div></span></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/34329831">Adenoidectomy and persistent velopharyngeal insufficiency: Considerations, risk factors, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lambert EM,
|
||
You P,
|
||
Kacmarynski DS,
|
||
Rosenberg TL</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2021 Oct;149:110846.
|
||
Epub 2021 Jul 17
|
||
doi: 10.1016/j.ijporl.2021.110846.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34329831" target="_blank">34329831</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30730561">In-Office Injection Pharyngoplasty for Velopharyngeal Insufficiency After Oropharyngeal Cancer Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Dell K,
|
||
Hubanks J</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2019 Dec;129(12):2740-2743.
|
||
Epub 2019 Feb 7
|
||
doi: 10.1002/lary.27853.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30730561" target="_blank">30730561</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27150305">Diagnosis and Management of Velopharyngeal Dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glade RS,
|
||
Deal R</span><br />
|
||
<span class="medgenPMjournal">Oral Maxillofac Surg Clin North Am</span>
|
||
2016 May;28(2):181-8.
|
||
doi: 10.1016/j.coms.2015.12.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27150305" target="_blank">27150305</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22velopharyngeal%20insufficiency%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 (67)</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/37981416">Primary Cleft Palate Repair.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Long BD,
|
||
Petersson RS</span><br />
|
||
<span class="medgenPMjournal">Facial Plast Surg Clin North Am</span>
|
||
2024 Feb;32(1):55-62.
|
||
Epub 2023 Aug 12
|
||
doi: 10.1016/j.fsc.2023.07.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37981416" target="_blank">37981416</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37117086">Treatment algorithm for velopharyngeal dysfunction in patients with cleft palate: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Asar A,
|
||
Gaber R,
|
||
Yehia M,
|
||
El-Kassaby MAW</span><br />
|
||
<span class="medgenPMjournal">Br J Oral Maxillofac Surg</span>
|
||
2023 May;61(4):259-266.
|
||
Epub 2023 Mar 11
|
||
doi: 10.1016/j.bjoms.2023.03.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37117086" target="_blank">37117086</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23128000">Cleft and craniofacial surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steinberg B,
|
||
Caccamese J Jr,
|
||
Padwa BL</span><br />
|
||
<span class="medgenPMjournal">J Oral Maxillofac Surg</span>
|
||
2012 Nov;70(11 Suppl 3):e137-61.
|
||
doi: 10.1016/j.joms.2012.07.034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23128000" target="_blank">23128000</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15556378">Obstructive sleep apnoea and anaesthesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hillman DR,
|
||
Loadsman JA,
|
||
Platt PR,
|
||
Eastwood PR</span><br />
|
||
<span class="medgenPMjournal">Sleep Med Rev</span>
|
||
2004 Dec;8(6):459-71.
|
||
doi: 10.1016/j.smrv.2004.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15556378" target="_blank">15556378</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3547432">Hynes pharyngoplasty revisited.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moss AL,
|
||
Pigott RW,
|
||
Albery EH</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
1987 Mar;79(3):346-55.
|
||
doi: 10.1097/00006534-198703000-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3547432" target="_blank">3547432</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Velopharyngeal%20insufficiency%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 (1135)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27712815">Velopharyngeal Dysfunction Evaluation and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meier JD,
|
||
Muntz HR</span><br />
|
||
<span class="medgenPMjournal">Facial Plast Surg Clin North Am</span>
|
||
2016 Nov;24(4):477-485.
|
||
doi: 10.1016/j.fsc.2016.06.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27712815" target="_blank">27712815</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25444731">Surgical speech disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shen T,
|
||
Sie KC</span><br />
|
||
<span class="medgenPMjournal">Facial Plast Surg Clin North Am</span>
|
||
2014 Nov;22(4):593-609.
|
||
Epub 2014 Nov 8
|
||
doi: 10.1016/j.fsc.2014.07.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25444731" target="_blank">25444731</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24607194">Surgical considerations in 22Q11.2 deletion syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kirschner RE,
|
||
Baylis AL</span><br />
|
||
<span class="medgenPMjournal">Clin Plast Surg</span>
|
||
2014 Apr;41(2):271-82.
|
||
doi: 10.1016/j.cps.2013.12.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24607194" target="_blank">24607194</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11205443">Cleft palate speech.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moerman M</span><br />
|
||
<span class="medgenPMjournal">Acta Otorhinolaryngol Belg</span>
|
||
2000;54(4):427-30.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11205443" target="_blank">11205443</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3527897">Velopharyngeal insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hirschberg J</span><br />
|
||
<span class="medgenPMjournal">Folia Phoniatr (Basel)</span>
|
||
1986;38(2-4):221-76.
|
||
doi: 10.1159/000265828.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3527897" target="_blank">3527897</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Velopharyngeal%20insufficiency%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 (707)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37646677">Timing of Primary Surgery for Cleft Palate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gamble C,
|
||
Persson C,
|
||
Willadsen E,
|
||
Albery L,
|
||
Soegaard Andersen H,
|
||
Zattoni Antoneli M,
|
||
Appelqvist M,
|
||
Aukner R,
|
||
Bodling P,
|
||
Bowden M,
|
||
Brunnegård K,
|
||
Cairns G,
|
||
Calladine S,
|
||
Campbell L,
|
||
Clayton-Smith J,
|
||
Cooper R,
|
||
Conroy E,
|
||
El-Angbawi A,
|
||
Kildegaard Emborg B,
|
||
Enfält Wikman J,
|
||
Fitzpatrick B,
|
||
Fukushiro AP,
|
||
Guedes de Azevedo Bento Gonçalves C,
|
||
Havstam C,
|
||
Hvistendahl AK,
|
||
Jorgensen LD,
|
||
Klinto K,
|
||
Berntsen Kvinnsland M,
|
||
Larham C,
|
||
Lemvik J,
|
||
Leturgie L,
|
||
Liljerehn E,
|
||
Lodge N,
|
||
Lohmander A,
|
||
McMahon S,
|
||
Mehendale F,
|
||
Miguel HC,
|
||
Moe M,
|
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Nielsen JB,
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Nyberg J,
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Pliskin L,
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<div class="nl"><a target="_blank" href="/pubmed/26784399">WITHDRAWN: Interventions for the management of submucous cleft palate.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nasser M,
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Fedorowicz Z,
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Newton T,
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<div class="nl"><a target="_blank" href="/pubmed/14631178">Velopharyngeal insufficiency.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Willging JP</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/3547432">Hynes pharyngoplasty revisited.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Moss AL,
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Pigott RW,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Velopharyngeal%20insufficiency%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 (330)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/24643851">Functional outcomes after TORS for oropharyngeal cancer: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hutcheson KA,
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Holsinger FC,
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Kupferman ME,
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<span class="bold">PMID: </span><a href="/pubmed/24643851" target="_blank">24643851</a><a href="/pmc/articles/PMC4169348" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21959961">Surgery for cleft palate and velopharyngeal dysfunction.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pearson GD,
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Kirschner RE</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/21959961" target="_blank">21959961</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/11205443">Cleft palate speech.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Moerman M</span><br />
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<span class="medgenPMjournal">Acta Otorhinolaryngol Belg</span>
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2000;54(4):427-30.
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<span class="bold">PMID: </span><a href="/pubmed/11205443" target="_blank">11205443</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/8045726">Hypernasality following adenoid removal.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Donnelly MJ</span><br />
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<span class="medgenPMjournal">Ir J Med Sci</span>
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1994 May;163(5):225-7.
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doi: 10.1007/BF02943255.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8045726" target="_blank">8045726</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3547432">Hynes pharyngoplasty revisited.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moss AL,
|
||
Pigott RW,
|
||
Albery EH</span><br />
|
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<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
1987 Mar;79(3):346-55.
|
||
doi: 10.1097/00006534-198703000-00004.
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||
<span class="bold">PMID: </span><a href="/pubmed/3547432" target="_blank">3547432</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Velopharyngeal%20insufficiency%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 (474)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37646677">Timing of Primary Surgery for Cleft Palate.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gamble C,
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Persson C,
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Willadsen E,
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Albery L,
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Soegaard Andersen H,
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Zattoni Antoneli M,
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Appelqvist M,
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Aukner R,
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Bodling P,
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Bowden M,
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Brunnegård K,
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Cairns G,
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Calladine S,
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Campbell L,
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Clayton-Smith J,
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Cooper R,
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Conroy E,
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El-Angbawi A,
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Enfält Wikman J,
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Fitzpatrick B,
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Fukushiro AP,
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Guedes de Azevedo Bento Gonçalves C,
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Havstam C,
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Hvistendahl AK,
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Jorgensen LD,
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Klinto K,
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Berntsen Kvinnsland M,
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Larham C,
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Lemvik J,
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Leturgie L,
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Liljerehn E,
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Lodge N,
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Lohmander A,
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McMahon S,
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Mehendale F,
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Miguel HC,
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Moe M,
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Nielsen JB,
|
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Nyberg J,
|
||
Pedersen NH,
|
||
Phippen G,
|
||
Alvarez Piazentin-Penna SH,
|
||
Patrick K,
|
||
Pliskin L,
|
||
Rigby L,
|
||
Semb G,
|
||
Southby L,
|
||
Sporre M,
|
||
Björkman Taleman AS,
|
||
Tangstad J,
|
||
Trindade IEK,
|
||
Underwood I,
|
||
van Eeden S,
|
||
Westberg LR,
|
||
Williamson PR,
|
||
Paciello Yamashita R,
|
||
Munro K,
|
||
Walsh T,
|
||
Shaw W;
|
||
TOPS Study Group</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2023 Aug 31;389(9):795-807.
|
||
doi: 10.1056/NEJMoa2215162.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37646677" target="_blank">37646677</a><a href="/pmc/articles/PMC10880183" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30208483">Acquired Velopharyngeal Dysfunction: Survey, Literature Review, and Clinical Recommendations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Guyton KB,
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Sandage MJ,
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Bailey D,
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Haak N,
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Molt L,
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Plumb A</span><br />
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<span class="medgenPMjournal">Am J Speech Lang Pathol</span>
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2018 Nov 21;27(4):1572-1597.
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doi: 10.1044/2018_AJSLP-17-0222.
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<span class="bold">PMID: </span><a href="/pubmed/30208483" target="_blank">30208483</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24643851">Functional outcomes after TORS for oropharyngeal cancer: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hutcheson KA,
|
||
Holsinger FC,
|
||
Kupferman ME,
|
||
Lewin JS</span><br />
|
||
<span class="medgenPMjournal">Eur Arch Otorhinolaryngol</span>
|
||
2015 Feb;272(2):463-71.
|
||
Epub 2014 Mar 19
|
||
doi: 10.1007/s00405-014-2985-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24643851" target="_blank">24643851</a><a href="/pmc/articles/PMC4169348" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9328883">Estimating phonation threshold pressure.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fisher KV,
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Swank PR</span><br />
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<span class="medgenPMjournal">J Speech Lang Hear Res</span>
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<span class="bold">PMID: </span><a href="/pubmed/9328883" target="_blank">9328883</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/4016418">Levator palati and palatal dimples: their anatomy, relationship and clinical significance.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Boorman JG,
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<span class="medgenPMjournal">Br J Plast Surg</span>
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<span class="bold">PMID: </span><a href="/pubmed/4016418" target="_blank">4016418</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Velopharyngeal%20insufficiency%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 (606)</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/38050953">Preoperative Imaging in Patients with 22q11 Deletion Syndrome Undergoing Velopharyngeal Surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duckett KA,
|
||
Poupore NS,
|
||
Carroll WW,
|
||
Pecha PP</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2024 Jun;134(6):2551-2561.
|
||
Epub 2023 Dec 5
|
||
doi: 10.1002/lary.31181.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38050953" target="_blank">38050953</a><a href="/pmc/articles/PMC11078621" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37646567">Systematic Review of Postoperative Velopharyngeal Insufficiency: Incidence and Association With Palatoplasty Timing and Technique.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xepoleas MD,
|
||
Naidu P,
|
||
Nagengast E,
|
||
Collier Z,
|
||
Islip D,
|
||
Khatra J,
|
||
Auslander A,
|
||
Yao CA,
|
||
Chong D,
|
||
Magee WP 3rd</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2023 Sep 1;34(6):1644-1649.
|
||
Epub 2023 Aug 30
|
||
doi: 10.1097/SCS.0000000000009555.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37646567" target="_blank">37646567</a><a href="/pmc/articles/PMC10445635" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37431935">Pharyngeal Flap Versus Sphincter Pharyngoplasty for the Treatment of Velopharyngeal Insufficiency in 22q11.2 Deletion Syndrome: Preliminary Findings From a Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Camargo Y,
|
||
Kellogg B,
|
||
Kollara L</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2023 Oct 1;34(7):1994-1998.
|
||
Epub 2023 Jul 11
|
||
doi: 10.1097/SCS.0000000000009531.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37431935" target="_blank">37431935</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28116979">Long-Term Incidence of Velopharyngeal Insufficiency and Other Sequelae following Uvulopalatopharyngoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tang JA,
|
||
Salapatas AM,
|
||
Bonzelaar LB,
|
||
Friedman M</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
2017 Apr;156(4):606-610.
|
||
Epub 2017 Jan 24
|
||
doi: 10.1177/0194599816688646.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28116979" target="_blank">28116979</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26784399">WITHDRAWN: Interventions for the management of submucous cleft palate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nasser M,
|
||
Fedorowicz Z,
|
||
Newton T,
|
||
Nouri M</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2016 Jan 19;2016(1):CD006703.
|
||
doi: 10.1002/14651858.CD006703.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26784399" target="_blank">26784399</a><a href="/pmc/articles/PMC10641637" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Velopharyngeal%20insufficiency%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 (37)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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|
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|
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|
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|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_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="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=(%22velopharyngeal%20insufficiency%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(%22Velopharyngeal%20insufficiency%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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