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<!--
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UID=10029
|
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ConceptID=C0025988
|
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-->
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<!--imgCountBooks = 0--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Figure 1" src="/projects/medgen/images/thumb/e801e8c7a523ec7f.1.thumb.jpg" src-large="/projects/medgen/images/e801e8c7a523ec7f.1.jpg" /></a><br /><a href="http://elementsofmorphology.nih.gov/index.cgi?tid=e801e8c7a523ec7f" target="_blank" title="Elements of Morphology: Human Malformation Terminology - NHGRI">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Microglossia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10029</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.">C0025988</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Microglossias</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Microglossia - congenital (32614006); Hypoplasia of tongue (32614006); Hypoglossia (32614006); Microglossia (32614006); Congenital hypoplasia of tongue (32614006)</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:0000171">HP:0000171</a></td></tr>
|
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</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_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>
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||
<div class="portlet_content ln">Decreased length and width of the tongue. [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_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">Microglossia</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/895701" ref="tree=MeSH" title="MedGen record for Abnormal tongue morphology">Abnormal tongue morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869489" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the tongue">Aplasia/Hypoplasia of the tongue</a></span><ul><li><span class="matched_ds">Microglossia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<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>
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||
<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_44252"><div><strong>Short-rib thoracic dysplasia 6 with or without polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44252</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.">C0024507</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44252">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_61231"><div><strong>Smith-Lemli-Opitz syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61231</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.">C0175694</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. It is characterized by prenatal and postnatal growth restriction, microcephaly, moderate-to-severe intellectual disability, and multiple major and minor malformations. The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, postaxial polydactyly, and 2-3 syndactyly of the toes. The clinical spectrum is wide; individuals with normal development and only minor malformations have been described.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/61231">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120514"><div><strong>Pallister-Hall syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120514</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.">C0265220</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GLI3-related Pallister-Hall syndrome (GLI3-PHS) is characterized by a spectrum of anomalies ranging from polydactyly, asymptomatic bifid epiglottis, and hypothalamic hamartoma at the mild end to laryngotracheal cleft with neonatal lethality at the severe end. Individuals with mild GLI3-PHS may be incorrectly diagnosed as having isolated postaxial polydactyly type A. Individuals with GLI3-PHS can have pituitary insufficiency and may die as neonates from undiagnosed and untreated adrenal insufficiency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120514">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78541"><div><strong>Agnathia-otocephaly complex</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78541</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.">C0265242</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Agnathia-otocephaly (AGOTC) is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78541">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_137970"><div><strong>Hamartoma of hypothalamus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137970</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.">C0342418</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pallister-Hall-like syndrome (PHLS) is a pleiotropic autosomal recessive disorder characterized by phenotypic variability. Patients exhibit postaxial polydactyly as well as hypothalamic hamartoma, cardiac and skeletal anomalies, and craniofacial dysmorphisms. Hirschsprung disease has also been observed (Rubino et al., 2018; Le et al., 2020). Pallister-Hall syndrome (146510) is an autosomal dominant disorder with features overlapping those of PHLS, caused by mutation in the GLI3 gene (165240).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/137970">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98483"><div><strong>Lenz-Majewski hyperostosis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98483</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.">C0432269</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lenz-Majewski hyperostotic dwarfism is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial and dental anomalies, loose skin, and distal limb anomalies, particularly brachydactyly and symphalangism. Patients have multiple radiographic abnormalities due to progressive generalized hyperostosis that affects the cranium, vertebrae, and diaphyses of tubular bones, leading to severe growth retardation (summary by Sousa et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98483">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_99347"><div><strong>Mulibrey nanism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99347</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.">C0524582</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mulibrey nanism (MUL) is a rare autosomal recessive growth disorder with prenatal onset, including occasional progressive cardiomyopathy, characteristic facial features, failure of sexual maturation, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor (summary by Hamalainen et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99347">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_338264"><div><strong>Seckel syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338264</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.">C1847572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Seckel syndrome (SCKL) is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with impaired intellectual development, and a characteristic facial appearance (Borglum et al., 2001). For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338264">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376364"><div><strong>Whistling face syndrome, recessive form</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376364</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.">C1848470</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Whistling face syndrome is characterized by an atypical facial appearance with anomalies of the hands and feet. Most cases show autosomal dominant inheritance: see distal arthrogryposis 2A (DA2A; 193700). There are rare reports of presumably autosomal recessive inheritance (summary by Altunhan et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376364">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_342400"><div><strong>Pelviscapular dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342400</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.">C1850040</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cousin syndrome is an autosomal recessive complex cranial, cervical, auricular, and skeletal malformation syndrome with scapular and pelvic hypoplasia (summary by Lausch et al., 2008).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342400">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_384007"><div><strong>Lethal faciocardiomelic dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>384007</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.">C1856891</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome. It was described only once, in 1975, in 3 affected males in a sibship of 13, from second-cousin parents. Patients were all of low birth weight, had microretrognathia, microstomia, and microglossia, hypoplasia of the radius and ulna with radial deviation of the hands, simian creases and hypoplasia of fingers I and V, hypoplasia of the fibula and tibia with talipes and wide space between toes I and II, and severe malformation of the left heart which may have been responsible for death of all 3 in the first week or so of life.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/384007">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_354928"><div><strong>Aglossia-adactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354928</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.">C1863203</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypoglossia-hypodactyly syndrome is characterized by a hypoplastic mandible, absence of the lower incisors, hypoglossia, and a variable degree of absence of the digits and limbs. Intelligence is normal (Hall, 1971). Hall (1971) classified what he termed the 'syndromes of oromandibular and limb hypogenesis,' which comprised a range of disorders with hypoglossia in common. Type I included hypoglossia and aglossia in isolation. Type II included hypoglossia with hypomelia/hypodactylia. Type III included glossopalatine ankylosis with hypoglossia or hypoglossia and hypomelia/hypodactyly. Type IV included intraoral bands with fusion with hypoglossia or hypoglossia and hypomelia/hypodactyly. Type V included several syndromes, such as Hanhart syndrome, Pierre Robin syndrome (261800), Moebius syndrome (157900), and amniotic band syndrome (217100). Hall (1971) noted that complete aglossia or adactylia had not been reported, and suggested that 'hypoglossia-hypodactylia' is a more accurate term. See also hypoglossia and situs inversus (612776).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/354928">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355268"><div><strong>Microphthalmia with brain and digit anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355268</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.">C1864689</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This syndrome has characteristics of anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355268">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_411249"><div><strong>Isolated congenital hypoglossia/aglossia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>411249</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.">C2748587</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypoglossia with situs inversus is a very rare congenital condition that likely represents a developmental field defect. Only sporadic cases have been reported (Faqeih et al., 2008). Hypoglossia is part of a group of malformation syndromes collectively termed 'oromandibular limb hypogenesis syndromes,' that usually include limb defects. Hall (1971) provided a classification system (see 103300). See also agnathia with holoprosencephaly (202650), which shows hypoglossia and situs inversus in addition to severe neurodevelopmental defects.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/411249">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766318"><div><strong>Auriculocondylar syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766318</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.">C3553404</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is a craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012). For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (602483).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766318">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_901242"><div><strong>Progressive myoclonic epilepsy type 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>901242</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.">C4225289</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive myoclonic epilepsy-9 (EPM9) is an autosomal recessive disorder characterized by onset of myoclonic seizures between 6 and 7 years of age, with progression to falling and tonic-clonic seizures, severe action myoclonus, and neurologic decline. Diffuse muscle wasting and loss of subcutaneous fat are present (Damiano et al., 2015). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/901242">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1770070"><div><strong>Autosomal recessive Robinow syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1770070</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.">C5399974</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ROR2-related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnormalities, and other anomalies. Craniofacial features include macrocephaly, broad prominent forehead, low-set ears, ocular hypertelorism, prominent eyes, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large and triangular mouth with exposed incisors and upper gums, gum hypertrophy, misaligned teeth, ankyloglossia, and micrognathia. Skeletal abnormalities include short stature, mesomelic or acromesomelic limb shortening, hemivertebrae with fusion of thoracic vertebrae, and brachydactyly. Other common features include micropenis with or without cryptorchidism in males and reduced clitoral size and hypoplasia of the labia majora in females, renal tract abnormalities, and nail hypoplasia or dystrophy. The disorder is recognizable at birth or in early childhood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1770070">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1804638"><div><strong>Carey-Fineman-Ziter syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1804638</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.">C5676876</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Carey-Fineman-Ziter syndrome-1 (CFZS1) is a multisystem congenital disorder characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. More variable features include dysmorphic facial features, brain abnormalities, and intellectual disability. It has been postulated that many clinical features in CFZS1 may be secondary effects of muscle weakness during development or brainstem anomalies (summary by Pasetti et al., 2016). Di Gioia et al. (2017) determined that CFZS1 represents a slowly progressive congenital myopathy resulting from a defect in myoblast fusion. Genetic Heterogeneity of Carey-Fineman-Ziter Syndrome Carey-Fineman-Ziter syndrome-2 (CFZS2; 619941) is caused by mutation in the MYMX gene (619912) on chromosome 6p21.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1804638">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_354928" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aglossia-adactyly syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78541" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agnathia-otocephaly complex</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Auriculocondylar syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1770070" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive Robinow syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1804638" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carey-Fineman-Ziter syndrome 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (19)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_137970" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hamartoma of hypothalamus</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_411249" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isolated congenital hypoglossia/aglossia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98483" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lenz-Majewski hyperostosis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_384007" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethal faciocardiomelic dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355268" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia with brain and digit anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_99347" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mulibrey nanism syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pallister-Hall syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342400" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pelviscapular dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_901242" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive myoclonic epilepsy type 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338264" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seckel syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_44252" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short-rib thoracic dysplasia 6 with or without polydactyly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_61231" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Smith-Lemli-Opitz syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376364" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Whistling face syndrome, recessive form</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
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||
<div class="nl"><a target="_blank" href="/pubmed/37491540">Adenoid hypertrophy-diagnosis and treatment: the new S2k guideline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ahmad Z,
|
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Krüger K,
|
||
Lautermann J,
|
||
Lippert B,
|
||
Tenenbaum T,
|
||
Tigges M,
|
||
Tisch M</span><br />
|
||
<span class="medgenPMjournal">HNO</span>
|
||
2023 Aug;71(Suppl 1):67-72.
|
||
Epub 2023 Jul 25
|
||
doi: 10.1007/s00106-023-01299-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37491540" target="_blank">37491540</a><a href="/pmc/articles/PMC10409824" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36350123">2022 American College of Rheumatology/EULAR Classification Criteria for Giant Cell Arteritis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ponte C,
|
||
Grayson PC,
|
||
Robson JC,
|
||
Suppiah R,
|
||
Gribbons KB,
|
||
Judge A,
|
||
Craven A,
|
||
Khalid S,
|
||
Hutchings A,
|
||
Watts RA,
|
||
Merkel PA,
|
||
Luqmani RA;
|
||
DCVAS Study Group</span><br />
|
||
<span class="medgenPMjournal">Arthritis Rheumatol</span>
|
||
2022 Dec;74(12):1881-1889.
|
||
Epub 2022 Nov 8
|
||
doi: 10.1002/art.42325.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36350123" target="_blank">36350123</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26650693">White lesions in the oral cavity: clinical presentation, diagnosis, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jones KB,
|
||
Jordan R</span><br />
|
||
<span class="medgenPMjournal">Semin Cutan Med Surg</span>
|
||
2015 Dec;34(4):161-70.
|
||
doi: 10.12788/j.sder.2015.0180.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26650693" target="_blank">26650693</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(microglossia)%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 (508)</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/35396717">Fetal Micro and Macroglossia: Defining Normal Fetal Tongue Size.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koren N,
|
||
Shust-Barequet S,
|
||
Weissbach T,
|
||
Raviv O,
|
||
Abu Snenh S,
|
||
Abraham E,
|
||
Cahan T,
|
||
Eisenberg V,
|
||
Yulzari V,
|
||
Hadi E,
|
||
Adamo L,
|
||
Mazaki Tovi S,
|
||
Achiron R,
|
||
Kivilevitch Z,
|
||
Weisz B,
|
||
Kassif E</span><br />
|
||
<span class="medgenPMjournal">J Ultrasound Med</span>
|
||
2023 Jan;42(1):59-70.
|
||
Epub 2022 Apr 9
|
||
doi: 10.1002/jum.15983.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35396717" target="_blank">35396717</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34590686">Mycn deficiency underlies the development of orofacial clefts in mice and humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang R,
|
||
Li R,
|
||
Huang Z,
|
||
Zuo Y,
|
||
Yue H,
|
||
Wu H,
|
||
Gu F,
|
||
Wang F,
|
||
He M,
|
||
Bian Z</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2022 Mar 3;31(5):803-815.
|
||
doi: 10.1093/hmg/ddab288.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34590686" target="_blank">34590686</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22577225">OTX2 mutations contribute to the otocephaly-dysgnathia complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chassaing N,
|
||
Sorrentino S,
|
||
Davis EE,
|
||
Martin-Coignard D,
|
||
Iacovelli A,
|
||
Paznekas W,
|
||
Webb BD,
|
||
Faye-Petersen O,
|
||
Encha-Razavi F,
|
||
Lequeux L,
|
||
Vigouroux A,
|
||
Yesilyurt A,
|
||
Boyadjiev SA,
|
||
Kayserili H,
|
||
Loget P,
|
||
Carles D,
|
||
Sergi C,
|
||
Puvabanditsin S,
|
||
Chen CP,
|
||
Etchevers HC,
|
||
Katsanis N,
|
||
Mercer CL,
|
||
Calvas P,
|
||
Jabs EW</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2012 Jun;49(6):373-9.
|
||
Epub 2012 May 10
|
||
doi: 10.1136/jmedgenet-2012-100892.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22577225" target="_blank">22577225</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12697349">Extreme microglossia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thorp MA,
|
||
de Waal PJ,
|
||
Prescott CA</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2003 May;67(5):473-7.
|
||
doi: 10.1016/s0165-5876(03)00003-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12697349" target="_blank">12697349</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1307507">Congenital syndromes connected with tongue malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Emmanouil-Nikoloussi E,
|
||
Kerameos-Foroglou C</span><br />
|
||
<span class="medgenPMjournal">Bull Assoc Anat (Nancy)</span>
|
||
1992 Dec;76(235):67-72.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1307507" target="_blank">1307507</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microglossia%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 (12)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35396717">Fetal Micro and Macroglossia: Defining Normal Fetal Tongue Size.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koren N,
|
||
Shust-Barequet S,
|
||
Weissbach T,
|
||
Raviv O,
|
||
Abu Snenh S,
|
||
Abraham E,
|
||
Cahan T,
|
||
Eisenberg V,
|
||
Yulzari V,
|
||
Hadi E,
|
||
Adamo L,
|
||
Mazaki Tovi S,
|
||
Achiron R,
|
||
Kivilevitch Z,
|
||
Weisz B,
|
||
Kassif E</span><br />
|
||
<span class="medgenPMjournal">J Ultrasound Med</span>
|
||
2023 Jan;42(1):59-70.
|
||
Epub 2022 Apr 9
|
||
doi: 10.1002/jum.15983.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35396717" target="_blank">35396717</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17850440">Oromandibular limb hypogenesis syndrome, type IIA, hypoglossia-hypodactylia: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wadhwani P,
|
||
Mohammad S,
|
||
Sahu R</span><br />
|
||
<span class="medgenPMjournal">J Oral Pathol Med</span>
|
||
2007 Oct;36(9):555-7.
|
||
doi: 10.1111/j.1600-0714.2007.00570.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17850440" target="_blank">17850440</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16231325">Prenatal detection of deletion 6q13q15 in a complex karyotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu M,
|
||
Obringer AC,
|
||
Fowler MH,
|
||
Hummel M,
|
||
Wenger SL</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2005 Dec;25(12):1084-7.
|
||
doi: 10.1002/pd.1265.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16231325" target="_blank">16231325</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11822700">Optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Toriello HV,
|
||
Lemire EG</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2002 Jan;11(1):19-23.
|
||
doi: 10.1097/00019605-200201000-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11822700" target="_blank">11822700</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24538067">A case of micrognathia, microglossia and partial anodontia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DOCKRELL RB</span><br />
|
||
<span class="medgenPMjournal">Dent Rec (London)</span>
|
||
1950 Jun;70(6):162-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24538067" target="_blank">24538067</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microglossia%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 (14)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/15750428">Congenital mandibular hypoplasia: analysis and classification.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh DJ,
|
||
Bartlett SP</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2005 Mar;16(2):291-300.
|
||
doi: 10.1097/00001665-200503000-00017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15750428" target="_blank">15750428</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3424218">Atypical malformations in an infant exposed to warfarin during the first trimester of pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruthnum P,
|
||
Tolmie JL</span><br />
|
||
<span class="medgenPMjournal">Teratology</span>
|
||
1987 Dec;36(3):299-301.
|
||
doi: 10.1002/tera.1420360305.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3424218" target="_blank">3424218</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microglossia%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/16380783">Prevalence of tongue lesions among Turkish schoolchildren.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ugar-Cankal D,
|
||
Denizci S,
|
||
Hocaoglu T</span><br />
|
||
<span class="medgenPMjournal">Saudi Med J</span>
|
||
2005 Dec;26(12):1962-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16380783" target="_blank">16380783</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11993954">Mobius sequence--a Swedish multidiscipline study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strömland K,
|
||
Sjögreen L,
|
||
Miller M,
|
||
Gillberg C,
|
||
Wentz E,
|
||
Johansson M,
|
||
Nylén O,
|
||
Danielsson A,
|
||
Jacobsson C,
|
||
Andersson J,
|
||
Fernell E</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2002;6(1):35-45.
|
||
doi: 10.1053/ejpn.2001.0540.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11993954" target="_blank">11993954</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11822700">Optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Toriello HV,
|
||
Lemire EG</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2002 Jan;11(1):19-23.
|
||
doi: 10.1097/00019605-200201000-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11822700" target="_blank">11822700</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11551610">Development of speech, feeding, eating, and facial expression in Möbius sequence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sjögreen L,
|
||
Andersson-Norinder J,
|
||
Jacobsson C</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2001 Sep 28;60(3):197-204.
|
||
doi: 10.1016/s0165-5876(01)00532-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11551610" target="_blank">11551610</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9060129">Development of the fetal tongue between 14 and 26 weeks of gestation: in utero ultrasonographic measurements.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Achiron R,
|
||
Ben Arie A,
|
||
Gabbay U,
|
||
Mashiach S,
|
||
Rotstein Z,
|
||
Lipitz S</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
1997 Jan;9(1):39-41.
|
||
doi: 10.1046/j.1469-0705.1997.09010039.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9060129" target="_blank">9060129</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microglossia%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 (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/11993954">Mobius sequence--a Swedish multidiscipline study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strömland K,
|
||
Sjögreen L,
|
||
Miller M,
|
||
Gillberg C,
|
||
Wentz E,
|
||
Johansson M,
|
||
Nylén O,
|
||
Danielsson A,
|
||
Jacobsson C,
|
||
Andersson J,
|
||
Fernell E</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2002;6(1):35-45.
|
||
doi: 10.1053/ejpn.2001.0540.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11993954" target="_blank">11993954</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11551610">Development of speech, feeding, eating, and facial expression in Möbius sequence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sjögreen L,
|
||
Andersson-Norinder J,
|
||
Jacobsson C</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2001 Sep 28;60(3):197-204.
|
||
doi: 10.1016/s0165-5876(01)00532-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11551610" target="_blank">11551610</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11102934">Transmission of the dysgnathia complex from mother to daughter.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Erlich MS,
|
||
Cunningham ML,
|
||
Hudgins L</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
2000 Nov 27;95(3):269-74.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11102934" target="_blank">11102934</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9060129">Development of the fetal tongue between 14 and 26 weeks of gestation: in utero ultrasonographic measurements.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Achiron R,
|
||
Ben Arie A,
|
||
Gabbay U,
|
||
Mashiach S,
|
||
Rotstein Z,
|
||
Lipitz S</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
1997 Jan;9(1):39-41.
|
||
doi: 10.1046/j.1469-0705.1997.09010039.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9060129" target="_blank">9060129</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3474099">Developmental oral anomalies among schoolchildren in Gizan region, Saudi Arabia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salem G,
|
||
Holm SA,
|
||
Fattah R,
|
||
Basset S,
|
||
Nasser C</span><br />
|
||
<span class="medgenPMjournal">Community Dent Oral Epidemiol</span>
|
||
1987 Jun;15(3):150-1.
|
||
doi: 10.1111/j.1600-0528.1987.tb00504.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3474099" target="_blank">3474099</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microglossia%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 (6)</a></div></div>
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