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<meta name="keywords" content="C3151495, elongation of upper lip, finding, increased height of upper lip, increased vertical length of upper lip, long upper lip, 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="Increased width of the upper lip." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=462845
|
||
ConceptID=C3151495
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Long upper lip</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462845</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:">C3151495</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Elongation of upper lip; Increased height of upper lip; Increased vertical length of upper lip</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0011341">HP:0011341</a></td></tr>
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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">Increased width of the upper lip. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
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||
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Long upper lip</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/871375" ref="tree=MeSH" title="MedGen record for Abnormality of the face">Abnormality of the face</a></span><ul><li><span class="TLline"><a href="/medgen/6447" ref="tree=MeSH" title="MedGen record for Abnormality of the mouth">Abnormality of the mouth</a></span><ul><li><span class="TLline"><a href="/medgen/1645271" ref="tree=MeSH" title="MedGen record for Abnormal oral morphology">Abnormal oral morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871391" ref="tree=MeSH" title="MedGen record for Abnormal oral cavity morphology">Abnormal oral cavity morphology</a></span><ul><li><span class="TLline"><a href="/medgen/389175" ref="tree=MeSH" title="MedGen record for Abnormal lip morphology">Abnormal lip morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871388" ref="tree=MeSH" title="MedGen record for Abnormal upper lip morphology">Abnormal upper lip morphology</a></span><ul><li><span class="matched_ds">Long upper lip</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_120532"><div><strong>Baller-Gerold syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120532</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.">C0265308</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. The coronal suture is most commonly affected; the metopic, lambdoid, and sagittal sutures may also be involved alone or in combination. Upper limb abnormality can include a combination of thumb hypo- or aplasia and radial hypo- or aplasia and may be asymmetric. Malformation or absence of carpal or metacarpal bones has also been described. Skin lesions may appear anytime within the first few years after birth, typically beginning with erythema of the face and extremities and evolving into poikiloderma. Slow growth is apparent in infancy with eventual height and length typically at 4 SD below the mean.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120532">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_155512"><div><strong>FRAXE</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155512</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.">C0751157</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual developmental disorder-109 (MRX109) is characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior (summary by Bensaid et al., 2009). The disorder, which is associated with a fragile site on chromosome Xq28 (FRAXE), can be caused either by silencing of the FMR2 gene as a consequence of a CCG expansion located upstream of this gene or by deletion within the gene (Stettner et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155512">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162909"><div><strong>Perlman syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162909</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.">C0796113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Perlman syndrome (PRLMNS) is an autosomal recessive congenital overgrowth syndrome with similarities to Beckwith-Wiedemann syndrome (BWS; 130650). Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor, with a 64% incidence in infants surviving beyond the neonatal period. The tumor is diagnosed at an earlier age in these individuals compared with sporadic cases (less than 2 years and 3-4 years of age, respectively), and there is a high frequency of bilateral tumors (55%). Histologic examination of the kidneys in children with Perlman syndrome shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor (summary by Astuti et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162909">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_325196"><div><strong>Intellectual disability-brachydactyly-Pierre Robin syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325196</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.">C1837564</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/325196">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375832"><div><strong>X-linked lissencephaly with abnormal genitalia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375832</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.">C1846171</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked lissencephaly-2 (LISX2) is a developmental disorder characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia. Males are severely affected and often die within the first days or months of life, whereas females may be unaffected or have a milder phenotype (Bonneau et al., 2002). LISX2 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly to Proud syndrome (300004) to infantile spasms without brain malformations (DEE1; 308350) to syndromic (309510) and nonsyndromic (300419) mental retardation (Kato et al., 2004; Wallerstein et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375832">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356049"><div><strong>Pierpont syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356049</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.">C1865644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pierpont syndrome (PRPTS) is a multiple congenital anomaly syndrome associated with learning disability. Key features include distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies (summary by Burkitt Wright et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356049">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815540"><div><strong>Ehlers-Danlos syndrome, spondylodysplastic type, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815540</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.">C3809210</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The features of Ehlers-Danlos syndrome spondylodysplastic type 2 (EDSSPD2) include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999). For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see 130070.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815540">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_865814"><div><strong>Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>865814</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.">C4017377</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/865814">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Baller-Gerold syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815540" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, spondylodysplastic type, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_155512" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">FRAXE</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325196" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability-brachydactyly-Pierre Robin syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162909" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perlman syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356049" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pierpont syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_865814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375832" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked lissencephaly with abnormal genitalia</a></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/38597341">Orthodontic treatment for prominent lower front teeth (Class III malocclusion) in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Owens D,
|
||
Watkinson S,
|
||
Harrison JE,
|
||
Turner S,
|
||
Worthington HV</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2024 Apr 10;4(4):CD003451.
|
||
doi: 10.1002/14651858.CD003451.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38597341" target="_blank">38597341</a><a href="/pmc/articles/PMC11005087" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33794266">Management of excessive gingival display using botulinum toxin type A: a descriptive study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andriola FO,
|
||
Chieza GS,
|
||
Cavagni J,
|
||
Freddo AL,
|
||
Corsetti A</span><br />
|
||
<span class="medgenPMjournal">Toxicon</span>
|
||
2021 Jun;196:56-62.
|
||
Epub 2021 Mar 29
|
||
doi: 10.1016/j.toxicon.2021.03.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33794266" target="_blank">33794266</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33228748">Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galeotti A,
|
||
De Rosa S,
|
||
Uomo R,
|
||
Dionisi-Vici C,
|
||
Deodato F,
|
||
Taurisano R,
|
||
Olivieri G,
|
||
Festa P</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 Nov 23;15(1):329.
|
||
doi: 10.1186/s13023-020-01615-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33228748" target="_blank">33228748</a><a href="/pmc/articles/PMC7685588" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(long%20upper%20lip)%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 (18)</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/33606435">Cephalometric Analysis of the Craniofacial Morphology in Patients With Moebius Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Telich-Tarriba JE,
|
||
Amador-Lara A,
|
||
Quiroz-Barrios J,
|
||
Cardenas-Mejia A</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2021 Oct 1;32(7):2446-2448.
|
||
doi: 10.1097/SCS.0000000000007559.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33606435" target="_blank">33606435</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21359992">The no-scar lip-lift: upper lip suspension technique.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Echo A,
|
||
Momoh AO,
|
||
Yuksel E</span><br />
|
||
<span class="medgenPMjournal">Aesthetic Plast Surg</span>
|
||
2011 Aug;35(4):617-23.
|
||
Epub 2011 Feb 27
|
||
doi: 10.1007/s00266-011-9655-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21359992" target="_blank">21359992</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14612993">Relationship between tip nasal muscles and the short upper lip.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Souza Pinto EB</span><br />
|
||
<span class="medgenPMjournal">Aesthetic Plast Surg</span>
|
||
2003 Sep-Oct;27(5):381-7.
|
||
Epub 2003 Nov 14
|
||
doi: 10.1007/s00266-003-2070-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14612993" target="_blank">14612993</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11223853">Valproic acid embryopathy: report of two siblings with further expansion of the phenotypic abnormalities and a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kozma C</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
2001 Jan 15;98(2):168-75.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11223853" target="_blank">11223853</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/677166">Duplication 2q33 leads to 2q37 due to paternal ins (12;2) translocation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dennis NR,
|
||
Neu RL,
|
||
Bannerman RM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1978;1(3):271-7.
|
||
doi: 10.1002/ajmg.1320010303.
|
||
<span class="bold">PMID: </span><a href="/pubmed/677166" target="_blank">677166</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Long%20upper%20lip%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 (6)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25101509">Prolidase deficiency: dento-facial aspects in a paediatric patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lacarbonara M,
|
||
Cazzolla AP,
|
||
Lacarbonara VA,
|
||
Di Venere D,
|
||
Capogreco M,
|
||
Marzo G</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Dent</span>
|
||
2014 Jul;15(2 Suppl):224-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25101509" target="_blank">25101509</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10869120">Dental findings in the Schimke immuno-osseous dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">da Fonseca MA</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
2000 Jul 17;93(2):158-60.
|
||
doi: 10.1002/1096-8628(20000717)93:2<158::aid-ajmg14>3.0.co;2-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10869120" target="_blank">10869120</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1605258">Additional case of Neuhäuser megalocornea and mental retardation syndrome with congenital hypotonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santolaya JM,
|
||
Grijalbo A,
|
||
Delgado A,
|
||
Erdozaín G</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1992 Jun 1;43(3):609-11.
|
||
doi: 10.1002/ajmg.1320430321.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1605258" target="_blank">1605258</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3284482">The trisomy (5)(q31-qter) syndrome: study of a family with a t(5:14) translocation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elias-Jones AC,
|
||
Habibi P,
|
||
Larcher VF,
|
||
Spencer T,
|
||
Butler LJ</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
1988 Apr;63(4):427-31.
|
||
doi: 10.1136/adc.63.4.427.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3284482" target="_blank">3284482</a><a href="/pmc/articles/PMC1778808" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Long%20upper%20lip%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 (4)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33723918">Physical features of newborns exposed during pregnancy to anticonvulsant medication and developmental monitoring.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peller AJ,
|
||
Hunt AT,
|
||
Holmes LB</span><br />
|
||
<span class="medgenPMjournal">Birth Defects Res</span>
|
||
2021 Jul 15;113(12):995-1000.
|
||
Epub 2021 Mar 15
|
||
doi: 10.1002/bdr2.1890.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33723918" target="_blank">33723918</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30861627">A comprehensive guide to upper lip aesthetic rejuvenation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baudoin J,
|
||
Meuli JN,
|
||
di Summa PG,
|
||
Watfa W,
|
||
Raffoul W</span><br />
|
||
<span class="medgenPMjournal">J Cosmet Dermatol</span>
|
||
2019 Apr;18(2):444-450.
|
||
Epub 2019 Mar 12
|
||
doi: 10.1111/jocd.12881.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30861627" target="_blank">30861627</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11223853">Valproic acid embryopathy: report of two siblings with further expansion of the phenotypic abnormalities and a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kozma C</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
2001 Jan 15;98(2):168-75.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11223853" target="_blank">11223853</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9243995">Cosmetic surgery of the lips.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maloney BP</span><br />
|
||
<span class="medgenPMjournal">Facial Plast Surg</span>
|
||
1996 Jul;12(3):265-78.
|
||
doi: 10.1055/s-0028-1082417.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9243995" target="_blank">9243995</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6439041">The fetal valproate syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DiLiberti JH,
|
||
Farndon PA,
|
||
Dennis NR,
|
||
Curry CJ</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1984 Nov;19(3):473-81.
|
||
doi: 10.1002/ajmg.1320190308.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6439041" target="_blank">6439041</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Long%20upper%20lip%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/677166">Duplication 2q33 leads to 2q37 due to paternal ins (12;2) translocation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dennis NR,
|
||
Neu RL,
|
||
Bannerman RM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1978;1(3):271-7.
|
||
doi: 10.1002/ajmg.1320010303.
|
||
<span class="bold">PMID: </span><a href="/pubmed/677166" target="_blank">677166</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Long%20upper%20lip%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 (1)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/6439041">The fetal valproate syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DiLiberti JH,
|
||
Farndon PA,
|
||
Dennis NR,
|
||
Curry CJ</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1984 Nov;19(3):473-81.
|
||
doi: 10.1002/ajmg.1320190308.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6439041" target="_blank">6439041</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Long%20upper%20lip%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 (1)</a></div></div>
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