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<meta name="keywords" content="C1563715, andersen cardiodysrhythmic periodic paralysis, andersen cardiodysrythmic periodic paralysis, andersen syndrome, andersen tawil syndrome, andersen-tawil syndrome, ats, cardiodysrhythmic potassium-sensitive periodic paralysis, disease or syndrome, kcnj2, long qt syndrome 7, long qt syndrome type 7, lqt7, periodic paralysis, potassium sensitive cardiodysrhythmic type, periodic paralysis, potassium-sensitive cardiodysrhythmic type, potassium-sensitive cardiodysrhythmic type, potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features, syndrome, andersen, syndrome, andersen tawil, 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="Andersen-Tawil syndrome (ATS) is characterized by a triad of: episodic flaccid muscle weakness (i.e., periodic paralysis); ventricular arrhythmias and prolonged QT interval; and anomalies including low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis. Affected individuals present in the first or second decade with either cardiac symptoms (palpitations and/or syncope) or weakness that occurs spontaneously following prolonged rest or following rest after exertion. Mild permanent weakness is common. Mild learning difficulties and a distinct neurocognitive phenotype (i.e., deficits in executive function and abstract reasoning) have been described." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=327586
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ConceptID=C1563715
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Andersen Tawil syndrome<span class="h1sub">(LQT7)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>327586</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.">C1563715</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>ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Andersen Syndrome; LONG QT SYNDROME 7; LQT7; PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE; Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Andersen Tawil syndrome (422348008); Andersen cardiodysrhythmic periodic paralysis (422348008); Long QT syndrome 7 (422348008)</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><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="KCNJ2 - ID: 3759 - NCBI Gene" href="/gene/3759" class="medgenPMinfo">KCNJ2</a> (17q24.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008222" target="_blank">MONDO:0008222</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/170390" target="_blank">170390</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=37553">ORPHA37553</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<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">Andersen-Tawil syndrome (ATS) is characterized by a triad of: episodic flaccid muscle weakness (i.e., periodic paralysis); ventricular arrhythmias and prolonged QT interval; and anomalies including low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis. Affected individuals present in the first or second decade with either cardiac symptoms (palpitations and/or syncope) or weakness that occurs spontaneously following prolonged rest or following rest after exertion. Mild permanent weakness is common. Mild learning difficulties and a distinct neurocognitive phenotype (i.e., deficits in executive function and abstract reasoning) have been described. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Andersen cardiodysrhythmic periodic paralysis, also known as Andersen syndrome or Andersen-Tawil syndrome, is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005). <a target="_blank" href="http://www.omim.org/entry/170390">http://www.omim.org/entry/170390</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Andersen-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. Periodic paralysis begins early in life, and episodes last from hours to days. These episodes may occur after exercise or long periods of rest, but they often have no obvious trigger. Muscle strength usually returns to normal between episodes. However, mild muscle weakness may eventually become permanent.<br /><br />In people with Andersen-Tawil syndrome, the most common changes affecting the heart are ventricular arrhythmia, which is a disruption in the rhythm of the heart's lower chambers (the ventricles), and long QT syndrome. Long QT syndrome is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. The irregular heartbeats can lead to discomfort, such as the feeling that the heart is skipping beats (palpitations). Uncommonly, the irregular heartbeats can cause fainting (syncope), and even more rarely, sudden death.<br /><br />Physical abnormalities associated with Andersen-Tawil syndrome typically affect the face, other parts of the head, and the limbs. These features often include a very small lower jaw (micrognathia), dental abnormalities (such as crowded teeth), low-set ears, widely spaced eyes, fusion (syndactyly) of the second and third toes, and unusual curving of the fingers or toes (clinodactyly). Some affected people also have short stature and an abnormal side-to-side curvature of the spine (scoliosis).<br /><br />The signs and symptoms of Andersen-Tawil syndrome vary widely, and they can be different even among affected members of the same family. About 60 percent of affected individuals have all three major features (periodic paralysis, cardiac arrhythmia, and physical abnormalities). <a target="_blank" href="https://medlineplus.gov/genetics/condition/andersen-tawil-syndrome">https://medlineplus.gov/genetics/condition/andersen-tawil-syndrome</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_67454"><div><strong>Brachydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67454</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.">C0221357</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67454">Feature record</a> | <a href="/medgen?term=%22Brachydactyly%22%5BClinical%20Features%5D%20OR%2067454%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66822"><div><strong>Scapular winging</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66822</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.">C0240953</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal protrusion of the scapula away from the surface of the back.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66822">Feature record</a> | <a href="/medgen?term=%22Scapular%20winging%22%5BClinical%20Features%5D%20OR%2066822%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75581"><div><strong>Toe syndactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75581</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.">C0265660</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75581">Feature record</a> | <a href="/medgen?term=%22Toe%20syndactyly%22%5BClinical%20Features%5D%20OR%2075581%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108279"><div><strong>Small hand</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108279</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.">C0575802</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Disproportionately small hand.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108279">Feature record</a> | <a href="/medgen?term=%22Small%20hand%22%5BClinical%20Features%5D%20OR%20108279%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_659456"><div><strong>Small finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>659456</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.">C0575827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/659456">Feature record</a> | <a href="/medgen?term=%22Small%20finger%22%5BClinical%20Features%5D%20OR%20659456%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163753"><div><strong>Short phalanx of finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163753</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.">C0877165</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Short (hypoplastic) phalanx of finger, affecting one or more phalanges.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163753">Feature record</a> | <a href="/medgen?term=%22Short%20phalanx%20of%20finger%22%5BClinical%20Features%5D%20OR%20163753%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_323064"><div><strong>Short metacarpal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323064</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.">C1837084</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323064">Feature record</a> | <a href="/medgen?term=%22Short%20metacarpal%22%5BClinical%20Features%5D%20OR%20323064%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334684"><div><strong>Short palm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334684</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1843108</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Short palm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334684">Feature record</a> | <a href="/medgen?term=%22Short%20palm%22%5BClinical%20Features%5D%20OR%20334684%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_376415"><div><strong>Short foot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376415</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.">C1848673</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376415">Feature record</a> | <a href="/medgen?term=%22Short%20foot%22%5BClinical%20Features%5D%20OR%20376415%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340456"><div><strong>Clinodactyly of the 5th finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340456</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850049</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340456">Feature record</a> | <a href="/medgen?term=%22Clinodactyly%20of%20the%205th%20finger%22%5BClinical%20Features%5D%20OR%20340456%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871256"><div><strong>Clinodactyly of the 5th toe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871256</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.">C4025741</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871256">Feature record</a> | <a href="/medgen?term=%22Clinodactyly%20of%20the%205th%20toe%22%5BClinical%20Features%5D%20OR%20871256%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_14579"><div><strong>Palpitations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14579</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.">C0030252</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14579">Feature record</a> | <a href="/medgen?term=%22Palpitations%22%5BClinical%20Features%5D%20OR%2014579%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21443"><div><strong>Syncope</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21443</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.">C0039070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21443">Feature record</a> | <a href="/medgen?term=%22Syncope%22%5BClinical%20Features%5D%20OR%2021443%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57494"><div><strong>Prolonged QT interval</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57494</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.">C0151878</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57494">Feature record</a> | <a href="/medgen?term=%22Prolonged%20QT%20interval%22%5BClinical%20Features%5D%20OR%2057494%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_294666"><div><strong>Prolonged QTc interval</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>294666</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.">C1560305</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/294666">Feature record</a> | <a href="/medgen?term=%22Prolonged%20QTc%20interval%22%5BClinical%20Features%5D%20OR%20294666%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_369497"><div><strong>Prominent U wave</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>369497</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.">C1969408</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased amplitude of the U wave, defined as an amplitude greater than 1-2mm or 25 percent of the height of the T wave.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/369497">Feature record</a> | <a href="/medgen?term=%22Prominent%20U%20wave%22%5BClinical%20Features%5D%20OR%20369497%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_370007"><div><strong>Bidirectional ventricular ectopy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370007</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.">C1969410</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370007">Feature record</a> | <a href="/medgen?term=%22Bidirectional%20ventricular%20ectopy%22%5BClinical%20Features%5D%20OR%20370007%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_808205"><div><strong>Growth abnormality</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>808205</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.">C0262361</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/808205">Feature record</a> | <a href="/medgen?term=%22Growth%20abnormality%22%5BClinical%20Features%5D%20OR%20808205%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</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.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65980"><div><strong>Low-set ears</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65980</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0239234</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65980">Feature record</a> | <a href="/medgen?term=%22Low-set%20ears%22%5BClinical%20Features%5D%20OR%2065980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4229"><div><strong>Depression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4229</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.">C0011581</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4229">Feature record</a> | <a href="/medgen?term=%22Depression%22%5BClinical%20Features%5D%20OR%204229%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488958"><div><strong>Periodic paralysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488958</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.">C1279412</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Episodes of muscle weakness.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488958">Feature record</a> | <a href="/medgen?term=%22Periodic%20paralysis%22%5BClinical%20Features%5D%20OR%20488958%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867195"><div><strong>Periodic hypokalemic paresis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867195</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.">C4021553</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Episodes of muscle weakness associated with reduced levels of potassium in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867195">Feature record</a> | <a href="/medgen?term=%22Periodic%20hypokalemic%20paresis%22%5BClinical%20Features%5D%20OR%20867195%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871302"><div><strong>Specific learning disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871302</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.">C4025790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871302">Feature record</a> | <a href="/medgen?term=%22Specific%20learning%20disability%22%5BClinical%20Features%5D%20OR%20871302%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44428"><div><strong>Micrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44428</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.">C0025990</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental hypoplasia of the mandible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44428">Feature record</a> | <a href="/medgen?term=%22Micrognathia%22%5BClinical%20Features%5D%20OR%2044428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66804"><div><strong>Hypoplasia of the maxilla</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66804</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.">C0240310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66804">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20maxilla%22%5BClinical%20Features%5D%20OR%2066804%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108148"><div><strong>Delayed skeletal maturation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108148</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0541764</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108148">Feature record</a> | <a href="/medgen?term=%22Delayed%20skeletal%20maturation%22%5BClinical%20Features%5D%20OR%20108148%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_331446"><div><strong>Slender long bone</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331446</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.">C1833144</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced diameter of a long bone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331446">Feature record</a> | <a href="/medgen?term=%22Slender%20long%20bone%22%5BClinical%20Features%5D%20OR%20331446%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_331097"><div><strong>Short mandibular rami</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331097</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.">C1841648</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331097">Feature record</a> | <a href="/medgen?term=%22Short%20mandibular%20rami%22%5BClinical%20Features%5D%20OR%20331097%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334972"><div><strong>Antegonial notching of mandible</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334972</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.">C1844509</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334972">Feature record</a> | <a href="/medgen?term=%22Antegonial%20notching%20of%20mandible%22%5BClinical%20Features%5D%20OR%20334972%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336793"><div><strong>Joint hypermobility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336793</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.">C1844820</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336793">Feature record</a> | <a href="/medgen?term=%22Joint%20hypermobility%22%5BClinical%20Features%5D%20OR%20336793%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341358"><div><strong>Short metatarsal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341358</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.">C1849020</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341358">Feature record</a> | <a href="/medgen?term=%22Short%20metatarsal%22%5BClinical%20Features%5D%20OR%20341358%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347616"><div><strong>Malar flattening</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347616</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.">C1858085</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347616">Feature record</a> | <a href="/medgen?term=%22Malar%20flattening%22%5BClinical%20Features%5D%20OR%20347616%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_370654"><div><strong>Prominent frontal sinuses</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370654</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.">C1969404</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370654">Feature record</a> | <a href="/medgen?term=%22Prominent%20frontal%20sinuses%22%5BClinical%20Features%5D%20OR%20370654%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5712"><div><strong>Hypokalemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5712</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.">C0020621</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally decreased potassium concentration in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5712">Feature record</a> | <a href="/medgen?term=%22Hypokalemia%22%5BClinical%20Features%5D%20OR%205712%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2670"><div><strong>Blepharophimosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2670</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.">C0005744</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2670">Feature record</a> | <a href="/medgen?term=%22Blepharophimosis%22%5BClinical%20Features%5D%20OR%202670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3730"><div><strong>Enamel hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3730</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.">C0011351</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental hypoplasia of the dental enamel.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3730">Feature record</a> | <a href="/medgen?term=%22Enamel%20hypoplasia%22%5BClinical%20Features%5D%20OR%203730%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11850"><div><strong>Dental crowding</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11850</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.">C0040433</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Changes in alignment of teeth in the dental arch</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11850">Feature record</a> | <a href="/medgen?term=%22Dental%20crowding%22%5BClinical%20Features%5D%20OR%2011850%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66013"><div><strong>Bulbous nose</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66013</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.">C0240543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased volume and globular shape of the anteroinferior aspect of the nose.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66013">Feature record</a> | <a href="/medgen?term=%22Bulbous%20nose%22%5BClinical%20Features%5D%20OR%2066013%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66814"><div><strong>High palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66814</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.">C0240635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66814">Feature record</a> | <a href="/medgen?term=%22High%20palate%22%5BClinical%20Features%5D%20OR%2066814%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75597"><div><strong>Persistence of primary teeth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75597</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.">C0266050</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75597">Feature record</a> | <a href="/medgen?term=%22Persistence%20of%20primary%20teeth%22%5BClinical%20Features%5D%20OR%2075597%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98067"><div><strong>Short palpebral fissure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98067</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.">C0423112</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98067">Feature record</a> | <a href="/medgen?term=%22Short%20palpebral%20fissure%22%5BClinical%20Features%5D%20OR%2098067%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_266298"><div><strong>Facial asymmetry</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>266298</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.">C1306710</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal difference between the left and right sides of the face.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/266298">Feature record</a> | <a href="/medgen?term=%22Facial%20asymmetry%22%5BClinical%20Features%5D%20OR%20266298%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324383"><div><strong>Triangular face</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324383</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.">C1835884</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324383">Feature record</a> | <a href="/medgen?term=%22Triangular%20face%22%5BClinical%20Features%5D%20OR%20324383%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_338610"><div><strong>Broad forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338610</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.">C1849089</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338610">Feature record</a> | <a href="/medgen?term=%22Broad%20forehead%22%5BClinical%20Features%5D%20OR%20338610%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340353"><div><strong>Delayed eruption of permanent teeth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340353</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.">C1849540</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Delayed tooth eruption affecting the secondary dentition.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340353">Feature record</a> | <a href="/medgen?term=%22Delayed%20eruption%20of%20permanent%20teeth%22%5BClinical%20Features%5D%20OR%20340353%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_355352"><div><strong>Thin upper lip vermilion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355352</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.">C1865017</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355352">Feature record</a> | <a href="/medgen?term=%22Thin%20upper%20lip%20vermilion%22%5BClinical%20Features%5D%20OR%20355352%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="divPopper rprt" id="clin_904670"><div><strong>Oligodontia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>904670</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.">C4082304</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The absence of six or more teeth from the normal series by a failure to develop.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/904670">Feature record</a> | <a href="/medgen?term=%22Oligodontia%22%5BClinical%20Features%5D%20OR%20904670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120587"><div><strong>Preauricular pit</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120587</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.">C0266610</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Small indentation anterior to the insertion of the ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120587">Feature record</a> | <a href="/medgen?term=%22Preauricular%20pit%22%5BClinical%20Features%5D%20OR%20120587%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6972"><div><strong>Hyperthyroidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6972</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.">C0020550</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6972">Feature record</a> | <a href="/medgen?term=%22Hyperthyroidism%22%5BClinical%20Features%5D%20OR%206972%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9373"><div><strong>Hypertelorism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9373</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9373">Feature record</a> | <a href="/medgen?term=%22Hypertelorism%22%5BClinical%20Features%5D%20OR%209373%5Buid%5D">Search on this feature</a></div></div><div class="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_2670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blepharophimosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_338610" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad forehead</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bulbous nose</a></span></li><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_340353" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed eruption of permanent teeth</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11850" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dental crowding</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3730" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Enamel hypoplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_266298" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Facial asymmetry</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High palate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_904670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oligodontia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75597" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Persistence of primary teeth</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98067" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short palpebral fissure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_355352" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin upper lip vermilion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324383" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Triangular face</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachydactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340456" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clinodactyly of the 5th finger</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871256" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clinodactyly of the 5th toe</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66822" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scapular winging</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_376415" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short foot</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_323064" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short metacarpal</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334684" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short palm</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short phalanx of finger</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_659456" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Small finger</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108279" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Small hand</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75581" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Toe syndactyly</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5712" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypokalemia</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_370007" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bidirectional ventricular ectopy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Palpitations</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57494" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prolonged QT interval</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_294666" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prolonged QTc interval</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_369497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prominent U wave</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21443" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syncope</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6972" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperthyroidism</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120587" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Preauricular pit</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334972" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Antegonial notching of mandible</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108148" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed skeletal maturation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66804" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the maxilla</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint hypermobility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347616" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malar flattening</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micrognathia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_370654" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prominent frontal sinuses</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_331097" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short mandibular rami</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341358" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short metatarsal</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_331446" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Slender long bone</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867195" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Periodic hypokalemic paresis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488958" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Periodic paralysis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871302" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Specific learning disability</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low-set ears</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_808205" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth abnormality</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1563715[DISCUI]&test_type=Clinical" ref="ncbi_uid=327586">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=327586" target="_blank" href="/omim/170390">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1129%20OR%20NBK1264)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=327586">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=327586" ref="ncbi_uid=327586">V</a></span></span><span class="TLline">Andersen Tawil syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/14319" ref="tree=MeSH" title="MedGen record for Congenital, Hereditary, and Neonatal Diseases and Abnormalities">Congenital, Hereditary, and Neonatal Diseases and Abnormalities</a></span><ul><li><span class="TLline"><a href="/medgen/181981" ref="tree=MeSH" title="MedGen record for Inborn genetic diseases">Inborn genetic diseases</a></span><ul><li><span class="TLline"><a href="/medgen/6323" ref="tree=MeSH" title="MedGen record for Inborn errors of metabolism">Inborn errors of metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/6325" ref="tree=MeSH" title="MedGen record for Inborn metal metabolism disorder">Inborn metal metabolism disorder</a></span><ul><li><span class="TLline"><a href="/medgen/18291" ref="tree=MeSH" title="MedGen record for Familial periodic paralysis">Familial periodic paralysis</a></span><ul><li><span class="matched_ds">Andersen Tawil syndrome</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=10442&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Andersen Tawil syndrome</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29125635">Review of the Diagnosis and Treatment of Periodic Paralysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Statland JM,
|
||
Fontaine B,
|
||
Hanna MG,
|
||
Johnson NE,
|
||
Kissel JT,
|
||
Sansone VA,
|
||
Shieh PB,
|
||
Tawil RN,
|
||
Trivedi J,
|
||
Cannon SC,
|
||
Griggs RC</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2018 Apr;57(4):522-530.
|
||
Epub 2017 Nov 29
|
||
doi: 10.1002/mus.26009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29125635" target="_blank">29125635</a><a href="/pmc/articles/PMC5867231" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24827800">Electrocardiogram in Andersen-Tawil syndrome. New electrocardiographic criteria for diagnosis of type-1 Andersen-Tawil syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kukla P,
|
||
Biernacka EK,
|
||
Baranchuk A,
|
||
Jastrzebski M,
|
||
Jagodzinska M</span><br />
|
||
<span class="medgenPMjournal">Curr Cardiol Rev</span>
|
||
2014 Aug;10(3):222-8.
|
||
doi: 10.2174/1573403x10666140514102528.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24827800" target="_blank">24827800</a><a href="/pmc/articles/PMC4040873" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17395133">Management and treatment of Andersen-Tawil syndrome (ATS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sansone V,
|
||
Tawil R</span><br />
|
||
<span class="medgenPMjournal">Neurotherapeutics</span>
|
||
2007 Apr;4(2):233-7.
|
||
doi: 10.1016/j.nurt.2007.01.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17395133" target="_blank">17395133</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22andersen%20tawil%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (11)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39174243">Pediatric neuromuscular channelopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vivekanandam V,
|
||
Munot P,
|
||
Jayaseelan DL</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2024;203:111-122.
|
||
doi: 10.1016/B978-0-323-90820-7.00011-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39174243" target="_blank">39174243</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34919635">Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vivekanandam V,
|
||
Männikkö R,
|
||
Skorupinska I,
|
||
Germain L,
|
||
Gray B,
|
||
Wedderburn S,
|
||
Kozyra D,
|
||
Sud R,
|
||
James N,
|
||
Holmes S,
|
||
Savvatis K,
|
||
Fialho D,
|
||
Merve A,
|
||
Pattni J,
|
||
Farrugia M,
|
||
Behr ER,
|
||
Marini-Bettolo C,
|
||
Hanna MG,
|
||
Matthews E</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2022 Jun 30;145(6):2108-2120.
|
||
doi: 10.1093/brain/awab445.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34919635" target="_blank">34919635</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33369085">Distinctive facial features in Andersen-Tawil syndrome: A three-dimensional stereophotogrammetric analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dolci C,
|
||
Sansone VA,
|
||
Gibelli D,
|
||
Cappella A,
|
||
Sforza C</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 Mar;185(3):781-789.
|
||
Epub 2020 Dec 24
|
||
doi: 10.1002/ajmg.a.62040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33369085" target="_blank">33369085</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30672637">Coincidence of Andersen-Tawil syndrome and Marfan syndrome: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krych M,
|
||
Ponińska J,
|
||
Bilińska ZT,
|
||
Płoski R,
|
||
Biernacka EK</span><br />
|
||
<span class="medgenPMjournal">Ann Noninvasive Electrocardiol</span>
|
||
2019 May;24(3):e12624.
|
||
Epub 2019 Jan 23
|
||
doi: 10.1111/anec.12624.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30672637" target="_blank">30672637</a><a href="/pmc/articles/PMC6931863" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29478596">Periodic paralysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fialho D,
|
||
Griggs RC,
|
||
Matthews E</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2018;148:505-520.
|
||
doi: 10.1016/B978-0-444-64076-5.00032-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29478596" target="_blank">29478596</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Andersen%20Tawil%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (35)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39174254">Andersen-Tawil syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goslinga JA,
|
||
PtáČek LJ,
|
||
Tawil R,
|
||
Fay A</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2024;203:59-67.
|
||
doi: 10.1016/B978-0-323-90820-7.00001-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39174254" target="_blank">39174254</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37562884">Muscle channelopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vivekanandam V,
|
||
Jayaseelan D,
|
||
Hanna MG</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2023;195:521-532.
|
||
doi: 10.1016/B978-0-323-98818-6.00006-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37562884" target="_blank">37562884</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36857319">Successful cardiac sympathetic denervation for Andersen-Tawil syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krych M,
|
||
Janisz K,
|
||
Kuriata J,
|
||
Kuśmierczyk M,
|
||
Hoffman P,
|
||
Biernacka EK</span><br />
|
||
<span class="medgenPMjournal">Europace</span>
|
||
2023 Apr 15;25(4):1511.
|
||
doi: 10.1093/europace/euac247.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36857319" target="_blank">36857319</a><a href="/pmc/articles/PMC10105849" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32947483">Andersen-Tawil Syndrome: A Comprehensive Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pérez-Riera AR,
|
||
Barbosa-Barros R,
|
||
Samesina N,
|
||
Pastore CA,
|
||
Scanavacca M,
|
||
Daminello-Raimundo R,
|
||
de Abreu LC,
|
||
Nikus K,
|
||
Brugada P</span><br />
|
||
<span class="medgenPMjournal">Cardiol Rev</span>
|
||
2021 Jul-Aug 01;29(4):165-177.
|
||
doi: 10.1097/CRD.0000000000000326.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32947483" target="_blank">32947483</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29125635">Review of the Diagnosis and Treatment of Periodic Paralysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Statland JM,
|
||
Fontaine B,
|
||
Hanna MG,
|
||
Johnson NE,
|
||
Kissel JT,
|
||
Sansone VA,
|
||
Shieh PB,
|
||
Tawil RN,
|
||
Trivedi J,
|
||
Cannon SC,
|
||
Griggs RC</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2018 Apr;57(4):522-530.
|
||
Epub 2017 Nov 29
|
||
doi: 10.1002/mus.26009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29125635" target="_blank">29125635</a><a href="/pmc/articles/PMC5867231" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Andersen%20Tawil%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (86)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35698640">Bidirectional Ventricular Tachycardia: Challenges and Solutions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Almarzuqi A,
|
||
Kimber S,
|
||
Quadros K,
|
||
Senaratne J</span><br />
|
||
<span class="medgenPMjournal">Vasc Health Risk Manag</span>
|
||
2022;18:397-406.
|
||
Epub 2022 Jun 7
|
||
doi: 10.2147/VHRM.S274857.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35698640" target="_blank">35698640</a><a href="/pmc/articles/PMC9188370" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31710873">Therapeutic management of ventricular arrhythmias in Andersen-Tawil syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maffè S,
|
||
Paffoni P,
|
||
Bergamasco L,
|
||
Dellavesa P,
|
||
Zenone F,
|
||
Baduena L,
|
||
Franchetti Pardo N,
|
||
Careri G,
|
||
Facchini E,
|
||
Sansone V,
|
||
Parravicini U</span><br />
|
||
<span class="medgenPMjournal">J Electrocardiol</span>
|
||
2020 Jan-Feb;58:37-42.
|
||
Epub 2019 Nov 1
|
||
doi: 10.1016/j.jelectrocard.2019.10.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31710873" target="_blank">31710873</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29125635">Review of the Diagnosis and Treatment of Periodic Paralysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Statland JM,
|
||
Fontaine B,
|
||
Hanna MG,
|
||
Johnson NE,
|
||
Kissel JT,
|
||
Sansone VA,
|
||
Shieh PB,
|
||
Tawil RN,
|
||
Trivedi J,
|
||
Cannon SC,
|
||
Griggs RC</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2018 Apr;57(4):522-530.
|
||
Epub 2017 Nov 29
|
||
doi: 10.1002/mus.26009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29125635" target="_blank">29125635</a><a href="/pmc/articles/PMC5867231" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29023786">Response to flecainide test in Andersen-Tawil syndrome with incessant ventricular tachycardia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fernández M,
|
||
Marín MDR,
|
||
Fernández-Armenta J,
|
||
Mora-López F,
|
||
Fernández Rivero R,
|
||
Berruezo A,
|
||
Cano Calabria L,
|
||
Vázquez García R</span><br />
|
||
<span class="medgenPMjournal">Pacing Clin Electrophysiol</span>
|
||
2018 Apr;41(4):429-432.
|
||
Epub 2017 Nov 15
|
||
doi: 10.1111/pace.13204.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29023786" target="_blank">29023786</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19693314">The Twiddling Andersen.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jefferies JL,
|
||
Kim JJ,
|
||
Belmont JW,
|
||
Friedman RA</span><br />
|
||
<span class="medgenPMjournal">Tex Heart Inst J</span>
|
||
2009;36(4):349-51.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19693314" target="_blank">19693314</a><a href="/pmc/articles/PMC2720289" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Andersen%20Tawil%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (40)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38497220">Extracellular Kir2.1(C122Y) Mutant Upsets Kir2.1-PIP(2) Bonds and Is Arrhythmogenic in Andersen-Tawil Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cruz FM,
|
||
Macías Á,
|
||
Moreno-Manuel AI,
|
||
Gutiérrez LK,
|
||
Vera-Pedrosa ML,
|
||
Martínez-Carrascoso I,
|
||
Sánchez Pérez P,
|
||
Ruiz Robles JM,
|
||
Bermúdez-Jiménez FJ,
|
||
Díaz-Agustín A,
|
||
Martínez de Benito F,
|
||
Arias-Santiago S,
|
||
Braza-Boils A,
|
||
Martín-Martínez M,
|
||
Gutierrez-Rodríguez M,
|
||
Bernal JA,
|
||
Zorio E,
|
||
Jiménez-Jaimez J,
|
||
Jalife J</span><br />
|
||
<span class="medgenPMjournal">Circ Res</span>
|
||
2024 Apr 12;134(8):e52-e71.
|
||
Epub 2024 Mar 18
|
||
doi: 10.1161/CIRCRESAHA.123.323895.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38497220" target="_blank">38497220</a><a href="/pmc/articles/PMC11009053" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34919635">Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vivekanandam V,
|
||
Männikkö R,
|
||
Skorupinska I,
|
||
Germain L,
|
||
Gray B,
|
||
Wedderburn S,
|
||
Kozyra D,
|
||
Sud R,
|
||
James N,
|
||
Holmes S,
|
||
Savvatis K,
|
||
Fialho D,
|
||
Merve A,
|
||
Pattni J,
|
||
Farrugia M,
|
||
Behr ER,
|
||
Marini-Bettolo C,
|
||
Hanna MG,
|
||
Matthews E</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2022 Jun 30;145(6):2108-2120.
|
||
doi: 10.1093/brain/awab445.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34919635" target="_blank">34919635</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33369085">Distinctive facial features in Andersen-Tawil syndrome: A three-dimensional stereophotogrammetric analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dolci C,
|
||
Sansone VA,
|
||
Gibelli D,
|
||
Cappella A,
|
||
Sforza C</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 Mar;185(3):781-789.
|
||
Epub 2020 Dec 24
|
||
doi: 10.1002/ajmg.a.62040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33369085" target="_blank">33369085</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32947483">Andersen-Tawil Syndrome: A Comprehensive Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pérez-Riera AR,
|
||
Barbosa-Barros R,
|
||
Samesina N,
|
||
Pastore CA,
|
||
Scanavacca M,
|
||
Daminello-Raimundo R,
|
||
de Abreu LC,
|
||
Nikus K,
|
||
Brugada P</span><br />
|
||
<span class="medgenPMjournal">Cardiol Rev</span>
|
||
2021 Jul-Aug 01;29(4):165-177.
|
||
doi: 10.1097/CRD.0000000000000326.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32947483" target="_blank">32947483</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32843460">Compound heterozygous mutations in KCNJ2 and KCNH2 in a patient with severe Andersen-Tawil syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Polyak ME,
|
||
Shestak A,
|
||
Podolyak D,
|
||
Zaklyazminskaya E</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2020 Aug 25;13(8)
|
||
doi: 10.1136/bcr-2020-235703.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32843460" target="_blank">32843460</a><a href="/pmc/articles/PMC7449271" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Andersen%20Tawil%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (23)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38497220">Extracellular Kir2.1(C122Y) Mutant Upsets Kir2.1-PIP(2) Bonds and Is Arrhythmogenic in Andersen-Tawil Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cruz FM,
|
||
Macías Á,
|
||
Moreno-Manuel AI,
|
||
Gutiérrez LK,
|
||
Vera-Pedrosa ML,
|
||
Martínez-Carrascoso I,
|
||
Sánchez Pérez P,
|
||
Ruiz Robles JM,
|
||
Bermúdez-Jiménez FJ,
|
||
Díaz-Agustín A,
|
||
Martínez de Benito F,
|
||
Arias-Santiago S,
|
||
Braza-Boils A,
|
||
Martín-Martínez M,
|
||
Gutierrez-Rodríguez M,
|
||
Bernal JA,
|
||
Zorio E,
|
||
Jiménez-Jaimez J,
|
||
Jalife J</span><br />
|
||
<span class="medgenPMjournal">Circ Res</span>
|
||
2024 Apr 12;134(8):e52-e71.
|
||
Epub 2024 Mar 18
|
||
doi: 10.1161/CIRCRESAHA.123.323895.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38497220" target="_blank">38497220</a><a href="/pmc/articles/PMC11009053" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35460302">Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Villar-Quiles RN,
|
||
Sternberg D,
|
||
Tredez G,
|
||
Beatriz Romero N,
|
||
Evangelista T,
|
||
Lafôret P,
|
||
Cintas P,
|
||
Sole G,
|
||
Sacconi S,
|
||
Bendahhou S,
|
||
Franques J,
|
||
Cances C,
|
||
Noury JB,
|
||
Delmont E,
|
||
Blondy P,
|
||
Perrin L,
|
||
Hezode M,
|
||
Fournier E,
|
||
Fontaine B,
|
||
Stojkovic T,
|
||
Vicart S</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2022 Aug;29(8):2398-2411.
|
||
Epub 2022 May 4
|
||
doi: 10.1111/ene.15369.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35460302" target="_blank">35460302</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34919635">Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vivekanandam V,
|
||
Männikkö R,
|
||
Skorupinska I,
|
||
Germain L,
|
||
Gray B,
|
||
Wedderburn S,
|
||
Kozyra D,
|
||
Sud R,
|
||
James N,
|
||
Holmes S,
|
||
Savvatis K,
|
||
Fialho D,
|
||
Merve A,
|
||
Pattni J,
|
||
Farrugia M,
|
||
Behr ER,
|
||
Marini-Bettolo C,
|
||
Hanna MG,
|
||
Matthews E</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2022 Jun 30;145(6):2108-2120.
|
||
doi: 10.1093/brain/awab445.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34919635" target="_blank">34919635</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33369085">Distinctive facial features in Andersen-Tawil syndrome: A three-dimensional stereophotogrammetric analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dolci C,
|
||
Sansone VA,
|
||
Gibelli D,
|
||
Cappella A,
|
||
Sforza C</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 Mar;185(3):781-789.
|
||
Epub 2020 Dec 24
|
||
doi: 10.1002/ajmg.a.62040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33369085" target="_blank">33369085</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32947483">Andersen-Tawil Syndrome: A Comprehensive Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pérez-Riera AR,
|
||
Barbosa-Barros R,
|
||
Samesina N,
|
||
Pastore CA,
|
||
Scanavacca M,
|
||
Daminello-Raimundo R,
|
||
de Abreu LC,
|
||
Nikus K,
|
||
Brugada P</span><br />
|
||
<span class="medgenPMjournal">Cardiol Rev</span>
|
||
2021 Jul-Aug 01;29(4):165-177.
|
||
doi: 10.1097/CRD.0000000000000326.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32947483" target="_blank">32947483</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Andersen%20Tawil%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (40)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1563715%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (56)</a></li>
|
||
<li><a href="/gtr/tests?term=C1563715%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1563715%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1563715%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C1563715%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (80)</a></li>
|
||
<li><a href="/gtr/tests?term=C1563715%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (16)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1563715%5bDISCUI%5d" target="_blank">See all (91)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=170390" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=37553" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Andersen%20Tawil%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<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>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22andersen%20tawil%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Andersen%20Tawil%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=600681" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3759[geneid]" target="_blank">View KCNJ2 variations in ClinVar</a></li><li><a href="/nuccore/209969779" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=170390" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Andersen+Tawil+Syndrome/431" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/andersen_cardiodysrhythmic_periodic_paralysis" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Andersen%20Tawil%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/andersen-tawil-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/9453/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301308" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/20301441" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Andersen%20Tawil%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=4" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Andersen%20Tawil%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=4&linkpostotal=4" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=327586" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=327586" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1563715[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1563715[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=327586" ref="log$=recordlinks">MeSH</a>
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<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=327586" ref="log$=recordlinks">NCBI Bookshelf</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=327586" ref="log$=recordlinks">PubMed (OMIM)</a>
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<div class="ralinkpop offscreen_noflow">SNTA1 syntrophin alpha 1 [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:6640</div></div>
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<div class="ralinkpop offscreen_noflow">ALG10B ALG10 alpha-1,2-glucosyltransferase B [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:144245</div></div>
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<div class="tertiary">Gene</div>
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|
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<div class="ralinkpop offscreen_noflow">SMAD3 SMAD family member 3 [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:4088</div></div>
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<div class="tertiary">Gene</div>
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
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<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
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<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
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<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
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<a class="text-white" href="https://www.nih.gov/">NIH</a>
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
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<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
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