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<meta name="keywords" content="C5935620, disease or syndrome, el hayek-chahrour neurodevelopmental disorder, el hayek-chahrour neurodevelopmental syndrome, kdm5a, nedehc, neurodevelopmental disorder with absent speech, impaired intellectual development, and autism, 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="El Hayek-Chahrour neurodevelopmental disorder (NEDEHC) is characterized by absent speech, impaired intellectual development, and autism (El Hayek et al., 2020)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1863287
|
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ConceptID=C5935620
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">El Hayek-Chahrour neurodevelopmental disorder<span class="h1sub">(NEDEHC)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1863287</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C5935620</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME; NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH, IMPAIRED INTELLECTUAL DEVELOPMENT, AND AUTISM</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="KDM5A - ID: 5927 - NCBI Gene" href="/gene/5927" class="medgenPMinfo">KDM5A</a> (12p13.33)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0970951" target="_blank">MONDO:0970951</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620820" target="_blank">620820</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">El Hayek-Chahrour neurodevelopmental disorder (NEDEHC) is characterized by absent speech, impaired intellectual development, and autism (El Hayek et al., 2020). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
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<div class="portlet mgSection" id="ID_102">
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<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_5416"><div><strong>Hallux valgus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5416</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.">C0018536</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lateral deviation of the great toe (i.e., in the direction of the little toe).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5416">Feature record</a> | <a href="/medgen?term=%22Hallux%20valgus%22%5BClinical%20Features%5D%20OR%205416%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_1645640"><div><strong>2-3 toe syndactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645640</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.">C4551570</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Syndactyly with fusion of toes two and three.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1645640">Feature record</a> | <a href="/medgen?term=%222-3%20toe%20syndactyly%22%5BClinical%20Features%5D%20OR%201645640%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1617"><div><strong>Coarctation of aorta</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1617</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.">C0003492</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1617">Feature record</a> | <a href="/medgen?term=%22Coarctation%20of%20aorta%22%5BClinical%20Features%5D%20OR%201617%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6753"><div><strong>Atrial septal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6753</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.">C0018817</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6753">Feature record</a> | <a href="/medgen?term=%22Atrial%20septal%20defect%22%5BClinical%20Features%5D%20OR%206753%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42366"><div><strong>Ventricular septal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42366</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0018818</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42366">Feature record</a> | <a href="/medgen?term=%22Ventricular%20septal%20defect%22%5BClinical%20Features%5D%20OR%2042366%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65429"><div><strong>Feeding difficulties</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65429</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.">C0232466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65429">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%22%5BClinical%20Features%5D%20OR%2065429%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_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</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.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8532"><div><strong>Echolalia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8532</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.">C0013528</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Echolalia is the automatic imitative repetition of sounds, words, or phrases in the absence of explicit awareness. The repeated words or phrases are typically odd or used in a non-social manner. These can be words or phrases that the affected individual has heard or invented.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8532">Feature record</a> | <a href="/medgen?term=%22Echolalia%22%5BClinical%20Features%5D%20OR%208532%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6072"><div><strong>Periventricular leukomalacia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6072</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.">C0023529</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6072">Feature record</a> | <a href="/medgen?term=%22Periventricular%20leukomalacia%22%5BClinical%20Features%5D%20OR%206072%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_138005"><div><strong>Hypoplasia of the corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138005</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0344482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the corpus callosum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138005">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20corpus%20callosum%22%5BClinical%20Features%5D%20OR%20138005%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107895"><div><strong>Gait disturbance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107895</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.">C0575081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term gait disturbance can refer to any disruption of the ability to walk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107895">Feature record</a> | <a href="/medgen?term=%22Gait%20disturbance%22%5BClinical%20Features%5D%20OR%20107895%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163547"><div><strong>Autistic behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163547</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.">C0856975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163547">Feature record</a> | <a href="/medgen?term=%22Autistic%20behavior%22%5BClinical%20Features%5D%20OR%20163547%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340737"><div><strong>Absent speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340737</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.">C1854882</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complete lack of development of speech and language abilities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340737">Feature record</a> | <a href="/medgen?term=%22Absent%20speech%22%5BClinical%20Features%5D%20OR%20340737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868641"><div><strong>Parietal cortical atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868641</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.">C4023041</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy of the parietal cortex.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868641">Feature record</a> | <a href="/medgen?term=%22Parietal%20cortical%20atrophy%22%5BClinical%20Features%5D%20OR%20868641%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_939097"><div><strong>Hippocampal atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>939097</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.">C4315130</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Partial or complete wasting (loss) of hippocampus tissue that was once present.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/939097">Feature record</a> | <a href="/medgen?term=%22Hippocampal%20atrophy%22%5BClinical%20Features%5D%20OR%20939097%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_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</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.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_67453"><div><strong>Frontal bossing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67453</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.">C0221354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67453">Feature record</a> | <a href="/medgen?term=%22Frontal%20bossing%22%5BClinical%20Features%5D%20OR%2067453%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_781174"><div><strong>Pectus excavatum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>781174</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.">C2051831</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/781174">Feature record</a> | <a href="/medgen?term=%22Pectus%20excavatum%22%5BClinical%20Features%5D%20OR%20781174%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_8288"><div><strong>Carious teeth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8288</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.">C0011334</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8288">Feature record</a> | <a href="/medgen?term=%22Carious%20teeth%22%5BClinical%20Features%5D%20OR%208288%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98391"><div><strong>Downslanted palpebral fissures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98391</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0423110</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The palpebral fissure inclination is more than two standard deviations below the mean.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98391">Feature record</a> | <a href="/medgen?term=%22Downslanted%20palpebral%20fissures%22%5BClinical%20Features%5D%20OR%2098391%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98424"><div><strong>Broad nasal tip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98424</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.">C0426429</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increase in width of the nasal tip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98424">Feature record</a> | <a href="/medgen?term=%22Broad%20nasal%20tip%22%5BClinical%20Features%5D%20OR%2098424%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_222980"><div><strong>Smooth philtrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>222980</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.">C1142533</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/222980">Feature record</a> | <a href="/medgen?term=%22Smooth%20philtrum%22%5BClinical%20Features%5D%20OR%20222980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326648"><div><strong>Anteverted nares</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326648</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1840077</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326648">Feature record</a> | <a href="/medgen?term=%22Anteverted%20nares%22%5BClinical%20Features%5D%20OR%20326648%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41917"><div><strong>Proptosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41917</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.">C0015300</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An eye that is protruding anterior to the plane of the face to a greater extent than is typical.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41917">Feature record</a> | <a href="/medgen?term=%22Proptosis%22%5BClinical%20Features%5D%20OR%2041917%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9373"><div><strong>Hypertelorism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9373</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9373">Feature record</a> | <a href="/medgen?term=%22Hypertelorism%22%5BClinical%20Features%5D%20OR%209373%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21337"><div><strong>Strabismus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21337</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21337">Feature record</a> | <a href="/medgen?term=%22Strabismus%22%5BClinical%20Features%5D%20OR%2021337%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_154282"><div><strong>Posterior embryotoxon</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154282</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.">C0546967</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154282">Feature record</a> | <a href="/medgen?term=%22Posterior%20embryotoxon%22%5BClinical%20Features%5D%20OR%20154282%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anteverted nares</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98424" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad nasal tip</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carious teeth</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98391" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Downslanted palpebral fissures</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_222980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Smooth philtrum</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_1645640" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">2-3 toe syndactyly</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_5416" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hallux valgus</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_6753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial septal defect</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1617" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coarctation of aorta</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular septal defect</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_154282" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Posterior embryotoxon</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proptosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Strabismus</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontal bossing</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</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_781174" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pectus excavatum</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_340737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent speech</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autistic behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Echolalia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait disturbance</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_939097" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hippocampal atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_138005" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the corpus callosum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868641" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Parietal cortical atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6072" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Periventricular leukomalacia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</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></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37165955">Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Langhammer F,
|
||
Maroofian R,
|
||
Badar R,
|
||
Gregor A,
|
||
Rochman M,
|
||
Ratliff JB,
|
||
Koopmans M,
|
||
Herget T,
|
||
Hempel M,
|
||
Kortüm F,
|
||
Heron D,
|
||
Mignot C,
|
||
Keren B,
|
||
Brooks S,
|
||
Botti C,
|
||
Ben-Zeev B,
|
||
Argilli E,
|
||
Sherr EH,
|
||
Gowda VK,
|
||
Srinivasan VM,
|
||
Bakhtiari S,
|
||
Kruer MC,
|
||
Salih MA,
|
||
Kuechler A,
|
||
Muller EA,
|
||
Blocker K,
|
||
Kuismin O,
|
||
Park KL,
|
||
Kochhar A,
|
||
Brown K,
|
||
Ramanathan S,
|
||
Clark RD,
|
||
Elgizouli M,
|
||
Melikishvili G,
|
||
Tabatadze N,
|
||
Stark Z,
|
||
Mirzaa GM,
|
||
Ong J,
|
||
Grasshoff U,
|
||
Bevot A,
|
||
von Wintzingerode L,
|
||
Jamra RA,
|
||
Hennig Y,
|
||
Goldenberg P,
|
||
Al Alam C,
|
||
Charif M,
|
||
Boulouiz R,
|
||
Bellaoui M,
|
||
Amrani R,
|
||
Al Mutairi F,
|
||
Tamim AM,
|
||
Abdulwahab F,
|
||
Alkuraya FS,
|
||
Khouj EM,
|
||
Alvi JR,
|
||
Sultan T,
|
||
Hashemi N,
|
||
Karimiani EG,
|
||
Ashrafzadeh F,
|
||
Imannezhad S,
|
||
Efthymiou S,
|
||
Houlden H,
|
||
Sticht H,
|
||
Zweier C</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2023 Aug;25(8):100885.
|
||
Epub 2023 May 8
|
||
doi: 10.1016/j.gim.2023.100885.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37165955" target="_blank">37165955</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34171106">Clinical practice guideline on pharmacological and psychological management of adult patients with attention deficit and hyperactivity disorder and comorbid substance use.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cunill R,
|
||
Castells X,
|
||
González-Pinto A,
|
||
Arrojo M,
|
||
Bernardo M,
|
||
Sáiz PA,
|
||
Flórez G,
|
||
Torrens M,
|
||
Tirado-Muñoz J,
|
||
Fonseca F,
|
||
Arranz B,
|
||
Garriga M,
|
||
Goikolea JM,
|
||
Zorrilla I,
|
||
Becoña E,
|
||
López A,
|
||
San L</span><br />
|
||
<span class="medgenPMjournal">Adicciones</span>
|
||
2022 Apr 1;34(2):168-178.
|
||
doi: 10.20882/adicciones.1569.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34171106" target="_blank">34171106</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31413171">Practice guideline update summary: Acute treatment of migraine in children and adolescents: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Headache Society.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oskoui M,
|
||
Pringsheim T,
|
||
Holler-Managan Y,
|
||
Potrebic S,
|
||
Billinghurst L,
|
||
Gloss D,
|
||
Hershey AD,
|
||
Licking N,
|
||
Sowell M,
|
||
Victorio MC,
|
||
Gersz EM,
|
||
Leininger E,
|
||
Zanitsch H,
|
||
Yonker M,
|
||
Mack K</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2019 Sep 10;93(11):487-499.
|
||
Epub 2019 Aug 14
|
||
doi: 10.1212/WNL.0000000000008095.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31413171" target="_blank">31413171</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(el%20hayek-chahrour%20neurodevelopmental%20disorder)%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 (21)</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/38117302">Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmetz A,
|
||
Lüdecke HJ,
|
||
Surowy H,
|
||
Sivalingam S,
|
||
Bruel AL,
|
||
Caumes R,
|
||
Charles P,
|
||
Chatron N,
|
||
Chrzanowska K,
|
||
Codina-Solà M,
|
||
Colson C,
|
||
Cuscó I,
|
||
Denommé-Pichon AS,
|
||
Edery P,
|
||
Faivre L,
|
||
Green A,
|
||
Heide S,
|
||
Hsieh TC,
|
||
Hustinx A,
|
||
Kleinendorst L,
|
||
Knopp C,
|
||
Kraft F,
|
||
Krawitz PM,
|
||
Lasa-Aranzasti A,
|
||
Lesca G,
|
||
López-González V,
|
||
Maraval J,
|
||
Mignot C,
|
||
Neuhann T,
|
||
Netzer C,
|
||
Oehl-Jaschkowitz B,
|
||
Petit F,
|
||
Philippe C,
|
||
Posmyk R,
|
||
Putoux A,
|
||
Reis A,
|
||
Sánchez-Soler MJ,
|
||
Suh J,
|
||
Tkemaladze T,
|
||
Tran Mau Them F,
|
||
Travessa A,
|
||
Trujillano L,
|
||
Valenzuela I,
|
||
van Haelst MM,
|
||
Vasileiou G,
|
||
Vincent-Delorme C,
|
||
Walther M,
|
||
Verde P,
|
||
Bramswig NC,
|
||
Wieczorek D</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2024 Jan;143(1):71-84.
|
||
Epub 2023 Dec 20
|
||
doi: 10.1007/s00439-023-02622-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38117302" target="_blank">38117302</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36498313">A Randomized Trial of a Swimming-Based Alternative Treatment for Children with Attention Deficit Hyperactivity Disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hattabi S,
|
||
Forte P,
|
||
Kukic F,
|
||
Bouden A,
|
||
Have M,
|
||
Chtourou H,
|
||
Sortwell A</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2022 Dec 4;19(23)
|
||
doi: 10.3390/ijerph192316238.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36498313" target="_blank">36498313</a><a href="/pmc/articles/PMC9739874" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35396579">Rare coding variants in ten genes confer substantial risk for schizophrenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh T,
|
||
Poterba T,
|
||
Curtis D,
|
||
Akil H,
|
||
Al Eissa M,
|
||
Barchas JD,
|
||
Bass N,
|
||
Bigdeli TB,
|
||
Breen G,
|
||
Bromet EJ,
|
||
Buckley PF,
|
||
Bunney WE,
|
||
Bybjerg-Grauholm J,
|
||
Byerley WF,
|
||
Chapman SB,
|
||
Chen WJ,
|
||
Churchhouse C,
|
||
Craddock N,
|
||
Cusick CM,
|
||
DeLisi L,
|
||
Dodge S,
|
||
Escamilla MA,
|
||
Eskelinen S,
|
||
Fanous AH,
|
||
Faraone SV,
|
||
Fiorentino A,
|
||
Francioli L,
|
||
Gabriel SB,
|
||
Gage D,
|
||
Gagliano Taliun SA,
|
||
Ganna A,
|
||
Genovese G,
|
||
Glahn DC,
|
||
Grove J,
|
||
Hall MH,
|
||
Hämäläinen E,
|
||
Heyne HO,
|
||
Holi M,
|
||
Hougaard DM,
|
||
Howrigan DP,
|
||
Huang H,
|
||
Hwu HG,
|
||
Kahn RS,
|
||
Kang HM,
|
||
Karczewski KJ,
|
||
Kirov G,
|
||
Knowles JA,
|
||
Lee FS,
|
||
Lehrer DS,
|
||
Lescai F,
|
||
Malaspina D,
|
||
Marder SR,
|
||
McCarroll SA,
|
||
McIntosh AM,
|
||
Medeiros H,
|
||
Milani L,
|
||
Morley CP,
|
||
Morris DW,
|
||
Mortensen PB,
|
||
Myers RM,
|
||
Nordentoft M,
|
||
O'Brien NL,
|
||
Olivares AM,
|
||
Ongur D,
|
||
Ouwehand WH,
|
||
Palmer DS,
|
||
Paunio T,
|
||
Quested D,
|
||
Rapaport MH,
|
||
Rees E,
|
||
Rollins B,
|
||
Satterstrom FK,
|
||
Schatzberg A,
|
||
Scolnick E,
|
||
Scott LJ,
|
||
Sharp SI,
|
||
Sklar P,
|
||
Smoller JW,
|
||
Sobell JL,
|
||
Solomonson M,
|
||
Stahl EA,
|
||
Stevens CR,
|
||
Suvisaari J,
|
||
Tiao G,
|
||
Watson SJ,
|
||
Watts NA,
|
||
Blackwood DH,
|
||
Børglum AD,
|
||
Cohen BM,
|
||
Corvin AP,
|
||
Esko T,
|
||
Freimer NB,
|
||
Glatt SJ,
|
||
Hultman CM,
|
||
McQuillin A,
|
||
Palotie A,
|
||
Pato CN,
|
||
Pato MT,
|
||
Pulver AE,
|
||
St Clair D,
|
||
Tsuang MT,
|
||
Vawter MP,
|
||
Walters JT,
|
||
Werge TM,
|
||
Ophoff RA,
|
||
Sullivan PF,
|
||
Owen MJ,
|
||
Boehnke M,
|
||
O'Donovan MC,
|
||
Neale BM,
|
||
Daly MJ</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2022 Apr;604(7906):509-516.
|
||
Epub 2022 Apr 8
|
||
doi: 10.1038/s41586-022-04556-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35396579" target="_blank">35396579</a><a href="/pmc/articles/PMC9805802" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31413171">Practice guideline update summary: Acute treatment of migraine in children and adolescents: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Headache Society.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oskoui M,
|
||
Pringsheim T,
|
||
Holler-Managan Y,
|
||
Potrebic S,
|
||
Billinghurst L,
|
||
Gloss D,
|
||
Hershey AD,
|
||
Licking N,
|
||
Sowell M,
|
||
Victorio MC,
|
||
Gersz EM,
|
||
Leininger E,
|
||
Zanitsch H,
|
||
Yonker M,
|
||
Mack K</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2019 Sep 10;93(11):487-499.
|
||
Epub 2019 Aug 14
|
||
doi: 10.1212/WNL.0000000000008095.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31413171" target="_blank">31413171</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28576350">Cannabinoids in attention-deficit/hyperactivity disorder: A randomised-controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cooper RE,
|
||
Williams E,
|
||
Seegobin S,
|
||
Tye C,
|
||
Kuntsi J,
|
||
Asherson P</span><br />
|
||
<span class="medgenPMjournal">Eur Neuropsychopharmacol</span>
|
||
2017 Aug;27(8):795-808.
|
||
Epub 2017 May 30
|
||
doi: 10.1016/j.euroneuro.2017.05.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28576350" target="_blank">28576350</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22El%20Hayek-Chahrour%20neurodevelopmental%20disorder%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 (225)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36498313">A Randomized Trial of a Swimming-Based Alternative Treatment for Children with Attention Deficit Hyperactivity Disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hattabi S,
|
||
Forte P,
|
||
Kukic F,
|
||
Bouden A,
|
||
Have M,
|
||
Chtourou H,
|
||
Sortwell A</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2022 Dec 4;19(23)
|
||
doi: 10.3390/ijerph192316238.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36498313" target="_blank">36498313</a><a href="/pmc/articles/PMC9739874" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31413171">Practice guideline update summary: Acute treatment of migraine in children and adolescents: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Headache Society.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oskoui M,
|
||
Pringsheim T,
|
||
Holler-Managan Y,
|
||
Potrebic S,
|
||
Billinghurst L,
|
||
Gloss D,
|
||
Hershey AD,
|
||
Licking N,
|
||
Sowell M,
|
||
Victorio MC,
|
||
Gersz EM,
|
||
Leininger E,
|
||
Zanitsch H,
|
||
Yonker M,
|
||
Mack K</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2019 Sep 10;93(11):487-499.
|
||
Epub 2019 Aug 14
|
||
doi: 10.1212/WNL.0000000000008095.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31413171" target="_blank">31413171</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30651174">Depression in Pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martínez-Paredes JF,
|
||
Jácome-Pérez N</span><br />
|
||
<span class="medgenPMjournal">Rev Colomb Psiquiatr (Engl Ed)</span>
|
||
2019 Jan-Mar;48(1):58-65.
|
||
Epub 2017 Sep 3
|
||
doi: 10.1016/j.rcp.2017.07.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30651174" target="_blank">30651174</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27859581">The risk of eating disorders comorbid with attention-deficit/hyperactivity disorder: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nazar BP,
|
||
Bernardes C,
|
||
Peachey G,
|
||
Sergeant J,
|
||
Mattos P,
|
||
Treasure J</span><br />
|
||
<span class="medgenPMjournal">Int J Eat Disord</span>
|
||
2016 Dec;49(12):1045-1057.
|
||
Epub 2016 Nov 15
|
||
doi: 10.1002/eat.22643.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27859581" target="_blank">27859581</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9197628">Attention deficit/hyperactivity disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castiglia PT</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Health Care</span>
|
||
1997 May-Jun;11(3):130-3.
|
||
doi: 10.1016/s0891-5245(97)90065-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9197628" target="_blank">9197628</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22El%20Hayek-Chahrour%20neurodevelopmental%20disorder%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 (193)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36498313">A Randomized Trial of a Swimming-Based Alternative Treatment for Children with Attention Deficit Hyperactivity Disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hattabi S,
|
||
Forte P,
|
||
Kukic F,
|
||
Bouden A,
|
||
Have M,
|
||
Chtourou H,
|
||
Sortwell A</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2022 Dec 4;19(23)
|
||
doi: 10.3390/ijerph192316238.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36498313" target="_blank">36498313</a><a href="/pmc/articles/PMC9739874" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36169325">The role of cannabinoids in neurodevelopmental disorders of children and adolescents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dias-de Freitas F,
|
||
Pimenta S,
|
||
Soares S,
|
||
Gonzaga D,
|
||
Vaz-Matos I,
|
||
Prior C</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol</span>
|
||
2022 Oct 1;75(7):189-197.
|
||
doi: 10.33588/rn.7507.2022123.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36169325" target="_blank">36169325</a><a href="/pmc/articles/PMC10280762" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34171106">Clinical practice guideline on pharmacological and psychological management of adult patients with attention deficit and hyperactivity disorder and comorbid substance use.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cunill R,
|
||
Castells X,
|
||
González-Pinto A,
|
||
Arrojo M,
|
||
Bernardo M,
|
||
Sáiz PA,
|
||
Flórez G,
|
||
Torrens M,
|
||
Tirado-Muñoz J,
|
||
Fonseca F,
|
||
Arranz B,
|
||
Garriga M,
|
||
Goikolea JM,
|
||
Zorrilla I,
|
||
Becoña E,
|
||
López A,
|
||
San L</span><br />
|
||
<span class="medgenPMjournal">Adicciones</span>
|
||
2022 Apr 1;34(2):168-178.
|
||
doi: 10.20882/adicciones.1569.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34171106" target="_blank">34171106</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31413171">Practice guideline update summary: Acute treatment of migraine in children and adolescents: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Headache Society.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oskoui M,
|
||
Pringsheim T,
|
||
Holler-Managan Y,
|
||
Potrebic S,
|
||
Billinghurst L,
|
||
Gloss D,
|
||
Hershey AD,
|
||
Licking N,
|
||
Sowell M,
|
||
Victorio MC,
|
||
Gersz EM,
|
||
Leininger E,
|
||
Zanitsch H,
|
||
Yonker M,
|
||
Mack K</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2019 Sep 10;93(11):487-499.
|
||
Epub 2019 Aug 14
|
||
doi: 10.1212/WNL.0000000000008095.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31413171" target="_blank">31413171</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28576350">Cannabinoids in attention-deficit/hyperactivity disorder: A randomised-controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cooper RE,
|
||
Williams E,
|
||
Seegobin S,
|
||
Tye C,
|
||
Kuntsi J,
|
||
Asherson P</span><br />
|
||
<span class="medgenPMjournal">Eur Neuropsychopharmacol</span>
|
||
2017 Aug;27(8):795-808.
|
||
Epub 2017 May 30
|
||
doi: 10.1016/j.euroneuro.2017.05.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28576350" target="_blank">28576350</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22El%20Hayek-Chahrour%20neurodevelopmental%20disorder%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 (90)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38565186">Injury Risk Analysis among Judo Athletes with Intellectual Disabilities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morales J,
|
||
Iteya M,
|
||
Mulroy J,
|
||
Kons R,
|
||
Simenko J,
|
||
Fukuda DH,
|
||
Escobar-Molina R,
|
||
Guerra-Balic M,
|
||
Pierantozzi E,
|
||
Moragas M</span><br />
|
||
<span class="medgenPMjournal">Int J Sports Med</span>
|
||
2024 Jun;45(7):511-518.
|
||
Epub 2024 Apr 2
|
||
doi: 10.1055/a-2280-4963.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38565186" target="_blank">38565186</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28576350">Cannabinoids in attention-deficit/hyperactivity disorder: A randomised-controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cooper RE,
|
||
Williams E,
|
||
Seegobin S,
|
||
Tye C,
|
||
Kuntsi J,
|
||
Asherson P</span><br />
|
||
<span class="medgenPMjournal">Eur Neuropsychopharmacol</span>
|
||
2017 Aug;27(8):795-808.
|
||
Epub 2017 May 30
|
||
doi: 10.1016/j.euroneuro.2017.05.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28576350" target="_blank">28576350</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27859581">The risk of eating disorders comorbid with attention-deficit/hyperactivity disorder: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nazar BP,
|
||
Bernardes C,
|
||
Peachey G,
|
||
Sergeant J,
|
||
Mattos P,
|
||
Treasure J</span><br />
|
||
<span class="medgenPMjournal">Int J Eat Disord</span>
|
||
2016 Dec;49(12):1045-1057.
|
||
Epub 2016 Nov 15
|
||
doi: 10.1002/eat.22643.
|
||
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<div class="nl"><a target="_blank" href="/pubmed/28576350">Cannabinoids in attention-deficit/hyperactivity disorder: A randomised-controlled trial.</a></div>
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Williams E,
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<div class="nl"><a target="_blank" href="/pubmed/25181843">Adaptive maternal immune deviations as a ground for autism spectrum disorders development in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poletaev AB,
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Poletaeva AA,
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Pukhalenko AI,
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Zamaleeva RS,
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Cherepanova NA,
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Frizin DV</span><br />
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<span class="medgenPMjournal">Folia Med (Plovdiv)</span>
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doi: 10.2478/folmed-2014-0011.
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<span class="bold">PMID: </span><a href="/pubmed/25181843" target="_blank">25181843</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22El%20Hayek-Chahrour%20neurodevelopmental%20disorder%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 (159)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/38718988">The effects of chronic administration of stimulant and non-stimulant medications on executive functions in ADHD: A systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Isfandnia F,
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El Masri S,
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Epub 2024 May 6
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doi: 10.1016/j.neubiorev.2024.105703.
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<span class="bold">PMID: </span><a href="/pubmed/38718988" target="_blank">38718988</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34750348">A systematic review and meta-analysis of the association between maternal polycystic ovary syndrome and neuropsychiatric disorders in children.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dubey P,
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Thakur B,
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Rodriguez S,
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Cox J,
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Sanchez S,
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Fonseca A,
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Reddy S,
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Clegg D,
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Dwivedi AK</span><br />
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<span class="medgenPMjournal">Transl Psychiatry</span>
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2021 Nov 8;11(1):569.
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doi: 10.1038/s41398-021-01699-8.
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<span class="bold">PMID: </span><a href="/pubmed/34750348" target="_blank">34750348</a><a href="/pmc/articles/PMC8575994" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/31703073">Implementation and effectiveness of non-specialist mediated interventions for children with Autism Spectrum Disorder: A systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Naveed S,
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Waqas A,
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Amray AN,
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Memon RI,
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Javed N,
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Jahan N,
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<span class="medgenPMjournal">PLoS One</span>
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2019;14(11):e0224362.
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Epub 2019 Nov 8
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<span class="bold">PMID: </span><a href="/pubmed/31703073" target="_blank">31703073</a><a href="/pmc/articles/PMC6839885" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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|
||
<div class="nl"><a target="_blank" href="/pubmed/28646732">Effects of stimulants and atomoxetine on emotional lability in adults: A systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Moukhtarian TR,
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Cooper RE,
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Vassos E,
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Moran P,
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Asherson P</span><br />
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<span class="medgenPMjournal">Eur Psychiatry</span>
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2017 Jul;44:198-207.
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Epub 2017 May 25
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||
doi: 10.1016/j.eurpsy.2017.05.021.
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<span class="bold">PMID: </span><a href="/pubmed/28646732" target="_blank">28646732</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27859581">The risk of eating disorders comorbid with attention-deficit/hyperactivity disorder: A systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nazar BP,
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Bernardes C,
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Peachey G,
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Sergeant J,
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Mattos P,
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Treasure J</span><br />
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2016 Dec;49(12):1045-1057.
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doi: 10.1002/eat.22643.
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<span class="bold">PMID: </span><a href="/pubmed/27859581" target="_blank">27859581</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22El%20Hayek-Chahrour%20neurodevelopmental%20disorder%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (15)</a></div></div>
|
||
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|
||
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc370184f3725e597ca586">El Hayek-Chahrour neurodevelopmental disorder</a>
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