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<!--
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UID=6447
|
||
ConceptID=C0026633
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of the mouth</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6447</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.">C0026633</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Abnormalities, Mouth; Abnormality, Mouth; Mouth Abnormalities; Mouth Abnormality</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Congenital anomaly of mouth (128334002); Congenital malformation of mouth (128334002)</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:0000153">HP:0000153</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">An abnormality of the mouth. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Abnormality of the mouth</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867442" ref="tree=MeSH" title="MedGen record for Abnormality of head or neck">Abnormality of head or neck</a></span><ul><li><span class="TLline"><a href="/medgen/867438" ref="tree=MeSH" title="MedGen record for Abnormality of the head">Abnormality of the head</a></span><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="matched_ds">Abnormality of the mouth</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/892994" ref="tree=MeSH" title="MedGen record for Abnormal mandible condylar process morphology">Abnormal mandible condylar process morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870680" ref="tree=MeSH" title="MedGen record for Short mandibular condyles">Short mandibular condyles</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/893105" ref="tree=MeSH" title="MedGen record for Abnormal mandible coronoid process morphology">Abnormal mandible coronoid process morphology</a></span></li><li><span class="TLline"><a href="/medgen/893034" ref="tree=MeSH" title="MedGen record for Abnormal mandibular symphysis morphology">Abnormal mandibular symphysis morphology</a></span></li><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/574114" ref="tree=MeSH" title="MedGen record for Abnormal alveolar ridge morphology">Abnormal alveolar ridge morphology</a></span></li><li><span class="TLline"><a href="/medgen/389175" ref="tree=MeSH" title="MedGen record for Abnormal lip morphology">Abnormal lip morphology</a></span></li><li><span class="TLline"><a href="/medgen/892967" ref="tree=MeSH" title="MedGen record for Abnormal mouth floor morphology">Abnormal mouth floor morphology</a></span></li><li><span class="TLline"><a href="/medgen/871385" ref="tree=MeSH" title="MedGen record for Abnormal oral frenulum morphology">Abnormal oral frenulum morphology</a></span></li><li><span class="TLline"><a href="/medgen/868765" ref="tree=MeSH" title="MedGen record for Abnormal oral mucosa morphology">Abnormal oral mucosa morphology</a></span></li><li><span class="TLline"><a href="/medgen/867440" ref="tree=MeSH" title="MedGen record for Abnormal palate morphology">Abnormal palate morphology</a></span></li><li><span class="TLline"><a href="/medgen/892384" ref="tree=MeSH" title="MedGen record for Abnormal salivary gland morphology">Abnormal salivary gland morphology</a></span></li><li><span class="TLline"><a href="/medgen/895701" ref="tree=MeSH" title="MedGen record for Abnormal tongue morphology">Abnormal tongue morphology</a></span></li><li><span class="TLline"><a href="/medgen/868992" ref="tree=MeSH" title="MedGen record for Abnormality of mouth shape">Abnormality of mouth shape</a></span></li><li><span class="TLline"><a href="/medgen/868993" ref="tree=MeSH" title="MedGen record for Abnormality of mouth size">Abnormality of mouth size</a></span></li><li><span class="TLline"><a href="/medgen/78084" ref="tree=MeSH" title="MedGen record for Abnormality of the dentition">Abnormality of the dentition</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/19310" ref="tree=MeSH" title="MedGen record for Isolated Pierre-Robin syndrome">Isolated Pierre-Robin syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1631824" ref="tree=MeSH" title="MedGen record for Abnormal oral physiology">Abnormal oral physiology</a></span><ul><li><span class="TLline"><a href="/medgen/907476" ref="tree=MeSH" title="MedGen record for Abnormal tongue physiology">Abnormal tongue physiology</a></span><ul><li><span class="TLline"><a href="/medgen/871383" ref="tree=MeSH" title="MedGen record for Abnormality of taste sensation">Abnormality of taste sensation</a></span></li><li><span class="TLline"><a href="/medgen/871386" ref="tree=MeSH" title="MedGen record for Movement abnormality of the tongue">Movement abnormality of the tongue</a></span></li><li><span class="TLline"><a href="/medgen/65987" ref="tree=MeSH" title="MedGen record for Tongue fasciculations">Tongue fasciculations</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867592" ref="tree=MeSH" title="MedGen record for Abnormality of salivation">Abnormality of salivation</a></span><ul><li><span class="TLline"><a href="/medgen/11419" ref="tree=MeSH" title="MedGen record for Excessive salivation">Excessive salivation</a></span></li><li><span class="TLline"><a href="/medgen/22735" ref="tree=MeSH" title="MedGen record for Xerostomia">Xerostomia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1684339" ref="tree=MeSH" title="MedGen record for Burning mouth">Burning mouth</a></span></li><li><span class="TLline"><a href="/medgen/42326" ref="tree=MeSH" title="MedGen record for Halitosis">Halitosis</a></span><ul><li><span class="TLline"><a href="/medgen/536911" ref="tree=MeSH" title="MedGen record for Fetor hepaticus">Fetor hepaticus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66779" ref="tree=MeSH" title="MedGen record for Impaired mastication">Impaired mastication</a></span></li><li><span class="TLline"><a href="/medgen/1695775" ref="tree=MeSH" title="MedGen record for Masseter muscular weakness">Masseter muscular weakness</a></span></li><li><span class="TLline"><a href="/medgen/10459" ref="tree=MeSH" title="MedGen record for Oral bleeding">Oral bleeding</a></span><ul><li><span class="TLline"><a href="/medgen/96609" ref="tree=MeSH" title="MedGen record for Ecchymosis of gingivae">Ecchymosis of gingivae</a></span></li><li><span class="TLline"><a href="/medgen/42218" ref="tree=MeSH" title="MedGen record for Gingival bleeding">Gingival bleeding</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868216" ref="tree=MeSH" title="MedGen record for Oral cavity bleeding">Oral cavity bleeding</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/451075" ref="tree=MeSH" title="MedGen record for Abnormality of the tongue">Abnormality of the tongue</a></span></li><li><span class="TLline"><a href="/medgen/40327" ref="tree=MeSH" title="MedGen record for Cleft upper lip">Cleft upper lip</a></span><ul><li><span class="TLline"><a href="/medgen/1842011" ref="tree=MeSH" title="MedGen record for Complete cleft of the upper lip">Complete cleft of the upper lip</a></span><ul><li><span class="TLline"><a href="/medgen/510610" ref="tree=MeSH" title="MedGen record for Complete unilateral cleft lip">Complete unilateral cleft lip</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/866805" ref="tree=MeSH" title="MedGen record for Incomplete cleft of the upper lip">Incomplete cleft of the upper lip</a></span></li><li><span class="TLline"><a href="/medgen/342454" ref="tree=MeSH" title="MedGen record for Median cleft upper lip">Median cleft upper lip</a></span><ul><li><span class="TLline"><a href="/medgen/1795813" ref="tree=MeSH" title="MedGen record for Median pseudocleft lip">Median pseudocleft lip</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1841679" ref="tree=MeSH" title="MedGen record for Microform cleft of the upper lip">Microform cleft of the upper lip</a></span><ul><li><span class="TLline"><a href="/medgen/1841973" ref="tree=MeSH" title="MedGen record for Microform unilateral cleft lip">Microform unilateral cleft lip</a></span></li><li><span class="TLline"><a href="/medgen/326445" ref="tree=MeSH" title="MedGen record for Submucous cleft lip">Submucous cleft lip</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/866673" ref="tree=MeSH" title="MedGen record for Non-midline cleft of the upper lip">Non-midline cleft of the upper lip</a></span><ul><li><span class="TLline"><a href="/medgen/451046" ref="tree=MeSH" title="MedGen record for Bilateral cleft lip">Bilateral cleft lip</a></span></li><li><span class="TLline"><a href="/medgen/451047" ref="tree=MeSH" title="MedGen record for Unilateral cleft lip">Unilateral cleft lip</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/42017" ref="tree=MeSH" title="MedGen record for Gingival fibromatosis">Gingival fibromatosis</a></span></li><li><span class="TLline"><a href="/medgen/44435" ref="tree=MeSH" title="MedGen record for Narrow mouth">Narrow mouth</a></span></li><li><span class="TLline"><a href="/medgen/52992" ref="tree=MeSH" title="MedGen record for Velopharyngeal insufficiency">Velopharyngeal insufficiency</a></span></li><li><span class="TLline"><a href="/medgen/44238" ref="tree=MeSH" title="MedGen record for Wide mouth">Wide mouth</a></span></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_83401"><div><strong>Blue rubber bleb nevus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83401</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.">C0346072</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83401">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_331965"><div><strong>Lip, hamartomatous</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331965</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.">C1835395</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331965">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_372034"><div><strong>Median nodule of the upper lip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>372034</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.">C1835396</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A minor trait of the lip transmitted in an autosomal dominant fashion. It has been described through several generations from three families in Japan. In all cases the nodule was asymptomatic and strictly isolated.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/372034">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333282"><div><strong>Kennedy disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333282</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.">C1839259</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinal and bulbar muscular atrophy (SBMA) is a gradually progressive neuromuscular disorder in which degeneration of lower motor neurons results in muscle weakness, muscle atrophy, and fasciculations in affected males. Affected individuals often show gynecomastia, testicular atrophy, and reduced fertility as a result of mild androgen insensitivity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333282">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347240"><div><strong>Amyloidosis of gingiva and conjunctiva, with intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347240</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.">C1859815</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347240">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356497"><div><strong>Ehlers-Danlos syndrome, musculocontractural type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356497</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.">C1866294</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bleeding problems are common in the vascular type of Ehlers-Danlos syndrome and are caused by unpredictable tearing (rupture) of blood vessels and organs. These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. Additional forms of Ehlers-Danlos syndrome that involve rupture of the blood vessels include the kyphoscoliotic, classical, and classical-like types.\n\nOther types of Ehlers-Danlos syndrome have additional signs and symptoms. The cardiac-valvular type causes severe problems with the valves that control the movement of blood through the heart. People with the kyphoscoliotic type experience severe curvature of the spine that worsens over time and can interfere with breathing by restricting lung expansion. A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and myopathic forms of Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the teeth and gums.\n\nMany people with the Ehlers-Danlos syndromes have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by loose skin that sags and wrinkles, and extra (redundant) folds of skin may be present.\n\nAn unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth.\n\nThe various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features. In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were identified more recently. The 2017 classification describes 13 types of Ehlers-Danlos syndrome.\n\nEhlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356497">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356653"><div><strong>Omphalocele syndrome, Shprintzen-Goldberg type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356653</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.">C1866958</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A very rare inherited malformation syndrome with characteristics of omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356653">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347240" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyloidosis of gingiva and conjunctiva, with intellectual disability</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83401" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blue rubber bleb nevus</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, musculocontractural type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333282" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kennedy disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331965" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lip, hamartomatous</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_372034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Median nodule of the upper lip</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356653" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Omphalocele syndrome, Shprintzen-Goldberg type</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/37552068">Prenatal diagnosis of cleft lip and/or palate: What do we tell prospective parents?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilkes C,
|
||
Graetz M,
|
||
Downie L,
|
||
Bethune M,
|
||
Chong D</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2023 Sep;43(10):1310-1319.
|
||
Epub 2023 Aug 8
|
||
doi: 10.1002/pd.6418.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37552068" target="_blank">37552068</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25529383">National Institutes of Health Consensus Development Project on Criteria for Clinical Trials in Chronic Graft-versus-Host Disease: I. The 2014 Diagnosis and Staging Working Group report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jagasia MH,
|
||
Greinix HT,
|
||
Arora M,
|
||
Williams KM,
|
||
Wolff D,
|
||
Cowen EW,
|
||
Palmer J,
|
||
Weisdorf D,
|
||
Treister NS,
|
||
Cheng GS,
|
||
Kerr H,
|
||
Stratton P,
|
||
Duarte RF,
|
||
McDonald GB,
|
||
Inamoto Y,
|
||
Vigorito A,
|
||
Arai S,
|
||
Datiles MB,
|
||
Jacobsohn D,
|
||
Heller T,
|
||
Kitko CL,
|
||
Mitchell SA,
|
||
Martin PJ,
|
||
Shulman H,
|
||
Wu RS,
|
||
Cutler CS,
|
||
Vogelsang GB,
|
||
Lee SJ,
|
||
Pavletic SZ,
|
||
Flowers ME</span><br />
|
||
<span class="medgenPMjournal">Biol Blood Marrow Transplant</span>
|
||
2015 Mar;21(3):389-401.e1.
|
||
Epub 2014 Dec 18
|
||
doi: 10.1016/j.bbmt.2014.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25529383" target="_blank">25529383</a><a href="/pmc/articles/PMC4329079" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12557035">Prenatal diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paek B,
|
||
Goldberg JD,
|
||
Albanese CT</span><br />
|
||
<span class="medgenPMjournal">World J Surg</span>
|
||
2003 Jan;27(1):27-37.
|
||
doi: 10.1007/s00268-002-6734-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12557035" target="_blank">12557035</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20the%20mouth)%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 (987)</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/7825244">Hypoglossia-hypodactylia (Hanhart's) syndrome with sensorineural hearing loss.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tüysüz B,
|
||
Erginel A,
|
||
Unutmaz T,
|
||
Cenani A</span><br />
|
||
<span class="medgenPMjournal">Turk J Pediatr</span>
|
||
1994 Oct-Dec;36(4):347-52.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7825244" target="_blank">7825244</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20mouth%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 (1)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/7825244">Hypoglossia-hypodactylia (Hanhart's) syndrome with sensorineural hearing loss.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tüysüz B,
|
||
Erginel A,
|
||
Unutmaz T,
|
||
Cenani A</span><br />
|
||
<span class="medgenPMjournal">Turk J Pediatr</span>
|
||
1994 Oct-Dec;36(4):347-52.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7825244" target="_blank">7825244</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20mouth%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 (1)</a></div></div>
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