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<meta name="keywords" content="C0431564, bumpy tongue, congenital abnormality, lingual lobules, lobulate tongue, lobulated tongue, 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="Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=140914
|
||
ConceptID=C0431564
|
||
-->
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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/f273ff393ebab6af.1.thumb.jpg" src-large="/projects/medgen/images/f273ff393ebab6af.1.jpg" /></a><br /><a href="http://elementsofmorphology.nih.gov/index.cgi?tid=f273ff393ebab6af" target="_blank" title="Elements of Morphology: Human Malformation Terminology - NHGRI">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Lobulated tongue</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140914</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.">C0431564</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Bumpy tongue; Lingual lobules; Lobulate tongue</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Lobulated tongue (253752000)</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:0000180">HP:0000180</a></td></tr>
|
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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">Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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|
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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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0431564[DISCUI]&test_type=Clinical" ref="ncbi_uid=140914">C</a></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">Lobulated tongue</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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="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="matched_ds">Lobulated tongue</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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||
<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">
|
||
<div class="divPopper rprt" id="rdis_10077"><div><strong>Mohr syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10077</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.">C0026363</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Orofaciodigital syndrome II (OFD2), also known as Mohr syndrome, is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydactyly. Mesomelic shortening of the limbs has also been observed (Mohr, 1941; Gorlin, 1982; Monroe et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10077">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98358"><div><strong>Orofacial-digital syndrome IV</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98358</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.">C0406727</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).\n\nResearchers have identified at least 13 potential forms of oral-facial-digital syndrome. The different types are classified by their patterns of signs and symptoms. However, the features of the various types overlap significantly, and some types are not well defined. The classification system for oral-facial-digital syndrome continues to evolve as researchers find more affected individuals and learn more about this disorder.\n\nThe signs and symptoms of oral-facial-digital syndrome vary widely. However, most forms of this disorder involve problems with development of the oral cavity, facial features, and digits. Most forms are also associated with brain abnormalities and some degree of intellectual disability.\n\nAbnormalities of the oral cavity that occur in many types of oral-facial-digital syndrome include a split (cleft) in the tongue, a tongue with an unusual lobed shape, and the growth of noncancerous tumors or nodules on the tongue. Affected individuals may also have extra, missing, or defective teeth. Another common feature is an opening in the roof of the mouth (a cleft palate). Some people with oral-facial-digital syndrome have bands of extra tissue (called hyperplastic frenula) that abnormally attach the lip to the gums.\n\nDistinctive facial features often associated with oral-facial-digital syndrome include a split in the lip (a cleft lip); a wide nose with a broad, flat nasal bridge; and widely spaced eyes (hypertelorism).\n\nAbnormalities of the digits can affect both the fingers and the toes in people with oral-facial-digital syndrome. These abnormalities include fusion of certain fingers or toes (syndactyly), digits that are shorter than usual (brachydactyly), or digits that are unusually curved (clinodactyly). The presence of extra digits (polydactyly) is also seen in most forms of oral-facial-digital syndrome.\n\nOther features occur in only one or a few types of oral-facial digital syndrome. These features help distinguish the different forms of the disorder. For example, the most common form of oral-facial-digital syndrome, type I, is associated with polycystic kidney disease. This kidney disease is characterized by the growth of fluid-filled sacs (cysts) that interfere with the kidneys' ability to filter waste products from the blood. Other forms of oral-facial-digital syndrome are characterized by neurological problems, particular changes in the structure of the brain, bone abnormalities, vision loss, and heart defects.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98358">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_96578"><div><strong>Type IV short rib polydactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96578</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.">C0432198</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). Patients with a clinical diagnosis of Beemer-Langer syndrome have been found to carry mutations in the IFT80 gene (611177); see SRTD2, 611263. For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96578">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_307142"><div><strong>Orofaciodigital syndrome I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>307142</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.">C1510460</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oral-facial-digital syndrome type I (OFD1) is usually male lethal during gestation and predominantly affects females. OFD1 is characterized by the following: oral features (lobulated tongue, tongue nodules, cleft of the hard or soft palate, accessory gingival frenulae, hypodontia, and other dental abnormalities); facial features (widely spaced eyes, telecanthus, hypoplasia of the alae nasi, median cleft or pseudocleft of the upper lip, micrognathia); digital features (brachydactyly, syndactyly, clinodactyly of the fifth finger, duplicated great toe); polycystic kidney disease; brain MRI findings (intracerebral cysts, agenesis of the corpus callosum, cerebellar agenesis with or without Dandy-Walker malformation); and intellectual disability (in approximately 50% of affected individuals).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/307142">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_358131"><div><strong>Orofaciodigital syndrome V</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358131</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.">C1868118</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Orofaciodigital syndrome V (OFD5) is an autosomal recessive disorder characterized by cleft palate/uvula, lobulated tongue, frontal bossing, hypertelorism, postaxial polydactyly, and impaired intellectual development (summary by Faily et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/358131">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_411200"><div><strong>Orofaciodigital syndrome type 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>411200</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.">C2745997</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Orofaciodigital syndrome type VI (OFD6), or Varadi syndrome, is a rare autosomal recessive disorder distinguished from other orofaciodigital syndromes by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities, including the molar tooth sign (summary by Doss et al., 1998 and Lopez et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/411200">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462050"><div><strong>Intellectual disability, autosomal dominant 20</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462050</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.">C3150700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MEF2C-related disorder is characterized by moderate-to-profound developmental delay with subsequent intellectual disability, hypotonia, dysmorphic features, seizures, neurobehavioral manifestations (autistic features, sleep issues, stereotypic movements particularly of the hands), vision issues, and cardiac manifestations. Individuals who are able to speak typically only use a few words and are not able to communicate in sentences. Approximately half of individuals are unable to walk independently; however, many are able to walk with some assistance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462050">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766672"><div><strong>Joubert syndrome 18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766672</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.">C3553758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766672">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_811346"><div><strong>Meckel syndrome, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811346</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.">C3714506</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel Syndrome See also MKS2 (603194), caused by mutation in the TMEM216 gene (613277) on chromosome 11q12; MKS3 (607361), caused by mutation in the TMEM67 gene (609884) on chromosome 8q; MKS4 (611134), caused by mutation in the CEP290 gene (610142) on chromosome 12q; MKS5 (611561), caused by mutation in the RPGRIP1L gene (610937) on chromosome 16q12; MKS6 (612284), caused by mutation in the CC2D2A gene (612013) on chromosome 4p15; MKS7 (267010), caused by mutation in the NPHP3 (608002) gene on chromosome 3q22; MKS8 (613885), caused by mutation in the TCTN2 gene (613846) on chromosome 12q24; MKS9 (614209), caused by mutation in the B9D1 gene (614144) on chromosome 17p11; MKS10 (614175), caused by mutation in the B9D2 gene (611951) on chromosome 19q13; MKS11 (615397), caused by mutation in the TMEM231 gene (614949) on chromosome 16q23; MKS12 (616258), caused by mutation in the KIF14 gene (611279) on chromosome 1q32; MKS13 (617562), caused by mutation in the TMEM107 gene (616183) on chromosome 17p13; and MKS14 (619879), caused by mutation in the TXNDC15 gene (617778) on chromosome 5q31.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811346">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_898712"><div><strong>Short-rib thoracic dysplasia 13 with or without polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>898712</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.">C4225378</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/898712">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934668"><div><strong>Orofaciodigital syndrome XV</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934668</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.">C4310701</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/934668">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1635470"><div><strong>Orofaciodigital syndrome type 14</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1635470</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.">C4706604</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations. The disease has characteristics of severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulum, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign on brain imaging are also associated.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1635470">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824021"><div><strong>Orofaciodigital syndrome 19</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824021</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.">C5774248</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Orofaciodigital syndrome XIX (OFD19) is an autosomal recessive ciliopathy characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies. Some patients have notching of the upper or lower lip (Iturrate et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824021">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1854813"><div><strong>Orofaciodigital syndrome 20</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854813</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.">C5935578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Orofaciodigital syndrome-20 (OFD20) is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones (Bruel et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of OFD, see OFD1 (311200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1854813">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462050" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 20</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766672" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 18</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811346" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meckel syndrome, type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_10077" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mohr syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98358" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofacial-digital syndrome IV</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (14)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824021" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome 19</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854813" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome 20</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_307142" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome I</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1635470" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome type 14</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_411200" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome type 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_358131" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome V</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934668" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome XV</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_898712" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short-rib thoracic dysplasia 13 with or without polydactyly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96578" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Type IV short rib polydactyly syndrome</a></div></span></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/34446671">Novel Surgical Technique for Correction of Incomplete Median Cleft Lip Deformity in Oral-Facial-Digital Syndrome Type II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Osawa M,
|
||
Yamamoto Y,
|
||
Fujita M,
|
||
Maeda T,
|
||
Funayama E</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2021 Nov-Dec 01;32(8):e741-e742.
|
||
doi: 10.1097/SCS.0000000000007720.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34446671" target="_blank">34446671</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18525474">Oral-facial-digital syndrome with vaginal atresia, hydronephrosis and congenital cardiac defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Su WR,
|
||
Wang PH,
|
||
Lian JD,
|
||
Lin MC</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop B</span>
|
||
2008 Jul;17(4):179-82.
|
||
doi: 10.1097/BPB.0b013e3282ff4f77.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18525474" target="_blank">18525474</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16502430">Orofaciodigital syndrome with cerebral dysgenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lesca G,
|
||
Fallet-Bianco C,
|
||
Plauchu H,
|
||
Vitrey D,
|
||
Verloes A,
|
||
Attia-Sobol J</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2006 Apr 1;140(7):757-63.
|
||
doi: 10.1002/ajmg.a.31144.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16502430" target="_blank">16502430</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12119212">Long-term follow-up of a girl with oro-facio-digital syndrome type I due to a mutation in the OFD 1 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stoll C,
|
||
Sauvage P</span><br />
|
||
<span class="medgenPMjournal">Ann Genet</span>
|
||
2002 Apr-Jun;45(2):59-62.
|
||
doi: 10.1016/s0003-3995(02)01116-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12119212" target="_blank">12119212</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2929654">Orofaciodigital syndrome type IV: report of a patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nevin NC,
|
||
Thomas PS</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1989 Feb;32(2):151-4.
|
||
doi: 10.1002/ajmg.1320320202.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2929654" target="_blank">2929654</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lobulated%20tongue%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 (8)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36319614">Tri-lobed Tongue: Rare Manifestation Accompany With Pierre Robin Sequence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Merza AM,
|
||
Salih HM</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2023 May 1;34(3):e228-e230.
|
||
Epub 2022 Nov 2
|
||
doi: 10.1097/SCS.0000000000009116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36319614" target="_blank">36319614</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35439611">Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamada M,
|
||
Suzuki H,
|
||
Futagawa H,
|
||
Takenouchi T,
|
||
Miya F,
|
||
Yoshihashi H,
|
||
Kosaki K</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2022 Jun;65(6):104512.
|
||
Epub 2022 Apr 18
|
||
doi: 10.1016/j.ejmg.2022.104512.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35439611" target="_blank">35439611</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31243241">An Orofaciodigital Syndrome 1 Patient and Her Mother Carry the Same OFD1 Mutation but Have Different X Chromosome Inactivation Patterns.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iijima T,
|
||
Hayami N,
|
||
Takaichi K,
|
||
Morisada N,
|
||
Nozu K,
|
||
Iijima K,
|
||
Sawa N,
|
||
Hoshino J,
|
||
Ubara Y</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
2019 Oct 15;58(20):2989-2992.
|
||
Epub 2019 Jun 27
|
||
doi: 10.2169/internalmedicine.2571-18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31243241" target="_blank">31243241</a><a href="/pmc/articles/PMC6859397" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12119212">Long-term follow-up of a girl with oro-facio-digital syndrome type I due to a mutation in the OFD 1 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stoll C,
|
||
Sauvage P</span><br />
|
||
<span class="medgenPMjournal">Ann Genet</span>
|
||
2002 Apr-Jun;45(2):59-62.
|
||
doi: 10.1016/s0003-3995(02)01116-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12119212" target="_blank">12119212</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2929654">Orofaciodigital syndrome type IV: report of a patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nevin NC,
|
||
Thomas PS</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1989 Feb;32(2):151-4.
|
||
doi: 10.1002/ajmg.1320320202.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2929654" target="_blank">2929654</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lobulated%20tongue%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 (15)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36319614">Tri-lobed Tongue: Rare Manifestation Accompany With Pierre Robin Sequence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Merza AM,
|
||
Salih HM</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2023 May 1;34(3):e228-e230.
|
||
Epub 2022 Nov 2
|
||
doi: 10.1097/SCS.0000000000009116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36319614" target="_blank">36319614</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lobulated%20tongue%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/18525474">Oral-facial-digital syndrome with vaginal atresia, hydronephrosis and congenital cardiac defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Su WR,
|
||
Wang PH,
|
||
Lian JD,
|
||
Lin MC</span><br />
|
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<span class="medgenPMjournal">J Pediatr Orthop B</span>
|
||
2008 Jul;17(4):179-82.
|
||
doi: 10.1097/BPB.0b013e3282ff4f77.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18525474" target="_blank">18525474</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16502430">Orofaciodigital syndrome with cerebral dysgenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lesca G,
|
||
Fallet-Bianco C,
|
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Plauchu H,
|
||
Vitrey D,
|
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Verloes A,
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Attia-Sobol J</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2006 Apr 1;140(7):757-63.
|
||
doi: 10.1002/ajmg.a.31144.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16502430" target="_blank">16502430</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14768808">Short rib-polydactyly syndrome: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Türkmen M,
|
||
Temoçin K,
|
||
Acar C,
|
||
Levi E,
|
||
Karaman C,
|
||
Inan G,
|
||
Elçioğlu N</span><br />
|
||
<span class="medgenPMjournal">Turk J Pediatr</span>
|
||
2003 Oct-Dec;45(4):359-62.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14768808" target="_blank">14768808</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12686930">Multiple recurrent and de novo odontogenic keratocysts associated with oral-facial-digital syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lindeboom JA,
|
||
Kroon FH,
|
||
de Vires J,
|
||
van den Akker HP</span><br />
|
||
<span class="medgenPMjournal">Oral Surg Oral Med Oral Pathol Oral Radiol Endod</span>
|
||
2003 Apr;95(4):458-62.
|
||
doi: 10.1067/moe.2003.35.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12686930" target="_blank">12686930</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12119212">Long-term follow-up of a girl with oro-facio-digital syndrome type I due to a mutation in the OFD 1 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stoll C,
|
||
Sauvage P</span><br />
|
||
<span class="medgenPMjournal">Ann Genet</span>
|
||
2002 Apr-Jun;45(2):59-62.
|
||
doi: 10.1016/s0003-3995(02)01116-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12119212" target="_blank">12119212</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lobulated%20tongue%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29605658">Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bonnard C,
|
||
Shboul M,
|
||
Tonekaboni SH,
|
||
Ng AYJ,
|
||
Tohari S,
|
||
Ghosh K,
|
||
Lai A,
|
||
Lim JY,
|
||
Tan EC,
|
||
Devisme L,
|
||
Stichelbout M,
|
||
Alkindi A,
|
||
Banu N,
|
||
Yüksel Z,
|
||
Ghoumid J,
|
||
Elkhartoufi N,
|
||
Boutaud L,
|
||
Micalizzi A,
|
||
Brett MS,
|
||
Venkatesh B,
|
||
Valente EM,
|
||
Attié-Bitach T,
|
||
Reversade B,
|
||
Kariminejad A</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2018 Oct;61(10):585-595.
|
||
Epub 2018 Mar 30
|
||
doi: 10.1016/j.ejmg.2018.03.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29605658" target="_blank">29605658</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28027175">Surgical Management of Duplication of the Pituitary Gland-Plus Syndrome With Epignathus, Cleft Palate, Duplication of Mandible, and Lobulated Tongue.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noguchi T,
|
||
Sugiyama T,
|
||
Sasaguri KI,
|
||
Ono S,
|
||
Maeda K,
|
||
Nishino H,
|
||
Jinbu Y,
|
||
Mori Y</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2017 Mar;28(2):e141-e144.
|
||
doi: 10.1097/SCS.0000000000003324.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28027175" target="_blank">28027175</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16545713">Epignathus combined with cleft palate, lobulated tongue, and lingual hamartoma: report of a case.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noguchi T,
|
||
Jinbu Y,
|
||
Itoh H,
|
||
Matsumoto K,
|
||
Sakai O,
|
||
Kusama M</span><br />
|
||
<span class="medgenPMjournal">Oral Surg Oral Med Oral Pathol Oral Radiol Endod</span>
|
||
2006 Apr;101(4):481-6.
|
||
Epub 2006 Jan 18
|
||
doi: 10.1016/j.tripleo.2005.06.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16545713" target="_blank">16545713</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10482880">Oral-facial-digital syndrome with Y-shaped fourth metacarpals and endocardial cushion defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hsieh YC,
|
||
Hou JW</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1999 Sep 17;86(3):278-81.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10482880" target="_blank">10482880</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9598735">Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagai K,
|
||
Nagao M,
|
||
Nagao M,
|
||
Yanai S,
|
||
Minagawa K,
|
||
Takahashi Y,
|
||
Takekoshi Y,
|
||
Ishizaka A,
|
||
Matsuzono Y,
|
||
Kobayashi O,
|
||
Itagaki T</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1998 Apr;35(4):342-4.
|
||
doi: 10.1136/jmg.35.4.342.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9598735" target="_blank">9598735</a><a href="/pmc/articles/PMC1051289" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lobulated%20tongue%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 (5)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0431564%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C0431564%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (9)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0431564%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Lobulated%20tongue" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Lobulated%20tongue" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Lobulated%20tongue" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Lobulated%20tongue%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
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|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0431564[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0431564[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=140914" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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||
<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=140914" ref="log$=recordlinks">PubMed</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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|
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|
||
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|
||
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|
||
|
||
|
||
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|
||
<div class="portlet_head">
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<h3>Recent activity</h3>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
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<div id="HTDisplay" class="">
|
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<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
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<div class="action">
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
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|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn Off
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|
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Turn On
|
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|
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</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d4eb3e67c23b31e0e1ff6e">Lobulated tongue</a>
|
||
<div class="ralinkpop offscreen_noflow">Lobulated tongue<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
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||
<li class="ra_rcd ralinkpopper two_line">
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||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d4eb3ccde49f3df7095d7a">Bifid tongue</a>
|
||
<div class="ralinkpop offscreen_noflow">Bifid tongue<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d4eb3acde49f3df7095837">Tongue nodules</a>
|
||
<div class="ralinkpop offscreen_noflow">Tongue nodules<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
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||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d4eb38cde49f3df7094e1a">Ankyloglossia</a>
|
||
<div class="ralinkpop offscreen_noflow">Ankyloglossia<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
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