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<meta name="keywords" content="C4014545, disease or syndrome, dna methyltransferase 3 alpha overgrowth syndrome, dnmt3a, dnmt3a-related overgrowth syndrome, tall stature, intellectual disability, facial dysmorphism syndrome, tall stature-intellectual disability-facial dysmorphism syndrome, tatton brown rahman overgrowth syndrome, tatton brown rahman syndrome, tatton-brown-rahman overgrowth syndrome, tatton-brown-rahman syndrome, tbrs, 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="Tatton-Brown-Rahman syndrome (TBRS) is an overgrowth / intellectual disability syndrome characterized by length/height and/or head circumference =2 standard deviations above the mean for age and sex, obesity / increased weight, intellectual disability that ranges from mild to severe, joint hypermobility, hypotonia, behavioral/psychiatric issues, kyphoscoliosis, and seizures. Individuals with TBRS have subtle dysmorphic features, including a round face with coarse features, thick horizontal low-set eyebrows, narrow (as measured vertically) palpebral fissures, and prominent upper central incisors. The facial gestalt is most easily recognizable in the teenage years. TBRS may be associated with an increased risk of developing acute myeloid leukemia. There are less clear associations with aortic root dilatation and increased risk of other hematologic and solid tumors." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=862982
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ConceptID=C4014545
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Tatton-Brown-Rahman overgrowth syndrome<span class="h1sub">(TBRS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862982</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C4014545</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Tall stature-intellectual disability-facial dysmorphism syndrome; Tatton-Brown-rahman syndrome</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Tatton Brown Rahman overgrowth syndrome (768843007); DNA methyltransferase 3 alpha overgrowth syndrome (768843007); DNMT3A-related overgrowth syndrome (768843007); Tatton Brown Rahman syndrome (768843007); Tall stature, intellectual disability, facial dysmorphism syndrome (768843007)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="DNMT3A - ID: 1788 - NCBI Gene" href="/gene/1788" class="medgenPMinfo">DNMT3A</a> (2p23.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014382" target="_blank">MONDO:0014382</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615879" target="_blank">615879</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=404443">ORPHA404443</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK581652" target="_blank">Tatton-Brown-Rahman Syndrome</a></div><div>Tatton-Brown-Rahman syndrome (TBRS) is an overgrowth / intellectual disability syndrome characterized by length/height and/or head circumference ≥2 standard deviations above the mean for age and sex, obesity / increased weight, intellectual disability that ranges from mild to severe, joint hypermobility, hypotonia, behavioral/psychiatric issues, kyphoscoliosis, and seizures. Individuals with TBRS have subtle dysmorphic features, including a round face with coarse features, thick horizontal low-set eyebrows, narrow (as measured vertically) palpebral fissures, and prominent upper central incisors. The facial gestalt is most easily recognizable in the teenage years. TBRS may be associated with an increased risk of developing acute myeloid leukemia. There are less clear associations with aortic root dilatation and increased risk of other hematologic and solid tumors. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK581652#tbrs.Summary" target="NBK581652">Summary</a> | <a class="medgenPMinfo" href="/books/NBK581652#tbrs.Diagnosis" target="NBK581652">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK581652#tbrs.Clinical_Characteristics" target="NBK581652">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK581652#tbrs.Genetically_Related_Allelic_Disorde" target="NBK581652">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK581652#tbrs.Differential_Diagnosis" target="NBK581652">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK581652#tbrs.Management" target="NBK581652">Management</a> | <a class="medgenPMinfo" href="/books/NBK581652#tbrs.Genetic_Counseling" target="NBK581652">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK581652#tbrs.Resources" target="NBK581652">Resources</a> | <a class="medgenPMinfo" href="/books/NBK581652#tbrs.Molecular_Genetics" target="NBK581652">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK581652#tbrs.Chapter_Notes" target="NBK581652">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK581652#tbrs.References" target="NBK581652">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Philip J Ostrowski | Katrina Tatton-Brown <a href="/books/NBK581652" target="NBK581652" title="NCBI Bookshelf: Tatton-Brown-Rahman Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Tatton-Brown-Rahman syndrome (TBRS) is characterized by tall stature, a distinctive facial appearance, and impaired intellectual development (Tatton-Brown et al., 2014). Some patients may have increased susceptibility to the development of acute myeloid leukemia (AML; 601626), particularly if they have DNMT3A mutations affecting the R882 residue (Hollink et al., 2017). <a target="_blank" href="http://www.omim.org/entry/615879">http://www.omim.org/entry/615879</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />DNMT3A overgrowth syndrome is a disorder characterized by faster than normal growth before and after birth, subtle differences in facial features, and intellectual disability.<br /><br />Individuals with DNMT3A overgrowth syndrome are often longer than normal at birth and are taller than their peers throughout life. Many affected individuals become overweight in late childhood or adolescence. They may also have an abnormally large head size (macrocephaly).<br /><br />The characteristic facial appearance of individuals with DNMT3A overgrowth syndrome includes a round face; thick, horizontal eyebrows; and narrowed openings of the eyes (narrowed palpebral fissures). Additionally, the upper front teeth are often larger than normal.<br /><br />Intellectual disability in DNMT3A overgrowth syndrome ranges from mild to severe. Individuals may have features of autism spectrum disorder, which are characterized by impaired communication and socialization skills.<br /><br />Individuals with DNMT3A overgrowth syndrome may have other signs and symptoms, including a rounded upper back that also curves to the side (kyphoscoliosis), heart defects, flat feet (pes planus), weak muscle tone (hypotonia), or joints that are loose and very flexible (hypermobile joints). Psychological disorders such as depression, anxiety, or obsessive-compulsive disorder can also occur in this disorder. <a target="_blank" href="https://medlineplus.gov/genetics/condition/dnmt3a-overgrowth-syndrome">https://medlineplus.gov/genetics/condition/dnmt3a-overgrowth-syndrome</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_21852"><div><strong>Vesicoureteral reflux</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21852</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.">C0042580</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy (RN). Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, and renal insufficiency (summary by Lu et al., 2007). Genetic Heterogeneity of Vesicoureteral Reflux A locus designated VUR1 maps to chromosome 1p13. VUR2 (610878) is caused by mutation in the ROBO2 gene (602431) on chromosome 3p12; VUR3 (613674) is caused by mutation in the SOX17 gene (610928) on chromosome 8q11; VUR4 (614317) maps to chromosome 5; VUR5 (614318) maps to chromosome 13; VUR6 (614319) maps to chromosome 18; VUR7 (615390) maps to chromosome 12; and VUR8 (615963) is caused by mutation in the TNXB gene (600985) on chromosome 6p21. A possible X-linked form has been reported (VURX; 314550).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21852">Feature record</a> | <a href="/medgen?term=%22Vesicoureteral%20reflux%22%5BClinical%20Features%5D%20OR%2021852%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57757"><div><strong>Talipes valgus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57757</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.">C0152236</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57757">Feature record</a> | <a href="/medgen?term=%22Talipes%20valgus%22%5BClinical%20Features%5D%20OR%2057757%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163635"><div><strong>Patellar subluxation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163635</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.">C0857276</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163635">Feature record</a> | <a href="/medgen?term=%22Patellar%20subluxation%22%5BClinical%20Features%5D%20OR%20163635%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6753"><div><strong>Atrial septal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6753</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0018817</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6753">Feature record</a> | <a href="/medgen?term=%22Atrial%20septal%20defect%22%5BClinical%20Features%5D%20OR%206753%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42366"><div><strong>Ventricular septal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42366</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0018818</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42366">Feature record</a> | <a href="/medgen?term=%22Ventricular%20septal%20defect%22%5BClinical%20Features%5D%20OR%2042366%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7670"><div><strong>Mitral regurgitation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7670</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.">C0026266</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7670">Feature record</a> | <a href="/medgen?term=%22Mitral%20regurgitation%22%5BClinical%20Features%5D%20OR%207670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11911"><div><strong>Tricuspid regurgitation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11911</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.">C0040961</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11911">Feature record</a> | <a href="/medgen?term=%22Tricuspid%20regurgitation%22%5BClinical%20Features%5D%20OR%2011911%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_69137"><div><strong>Tall stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69137</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.">C0241240</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height above that which is expected according to age and gender norms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/69137">Feature record</a> | <a href="/medgen?term=%22Tall%20stature%22%5BClinical%20Features%5D%20OR%2069137%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_90701"><div><strong>Hemihypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90701</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.">C0332890</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Overgrowth of only one side of the body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90701">Feature record</a> | <a href="/medgen?term=%22Hemihypertrophy%22%5BClinical%20Features%5D%20OR%2090701%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_376550"><div><strong>Overgrowth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376550</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.">C1849265</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376550">Feature record</a> | <a href="/medgen?term=%22Overgrowth%22%5BClinical%20Features%5D%20OR%20376550%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3232"><div><strong>Febrile seizure (within the age range of 3 months to 6 years)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3232</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.">C0009952</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3232">Feature record</a> | <a href="/medgen?term=%22Febrile%20seizure%20(within%20the%20age%20range%20of%203%20months%20to%206%20years)%22%5BClinical%20Features%5D%20OR%203232%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4936"><div><strong>Encephalomalacia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4936</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.">C0014068</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4936">Feature record</a> | <a href="/medgen?term=%22Encephalomalacia%22%5BClinical%20Features%5D%20OR%204936%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_196689"><div><strong>Chiari type I malformation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196689</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.">C0750929</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line)</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/196689">Feature record</a> | <a href="/medgen?term=%22Chiari%20type%20I%20malformation%22%5BClinical%20Features%5D%20OR%20196689%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_480553"><div><strong>Ventriculomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480553</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.">C3278923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in size of the ventricular system of the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/480553">Feature record</a> | <a href="/medgen?term=%22Ventriculomegaly%22%5BClinical%20Features%5D%20OR%20480553%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9232"><div><strong>Umbilical hernia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9232</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.">C0019322</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9232">Feature record</a> | <a href="/medgen?term=%22Umbilical%20hernia%22%5BClinical%20Features%5D%20OR%209232%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</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.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140921"><div><strong>Sagittal craniosynostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140921</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.">C0432123</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A kind of craniosynostosis affecting the sagittal suture.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140921">Feature record</a> | <a href="/medgen?term=%22Sagittal%20craniosynostosis%22%5BClinical%20Features%5D%20OR%20140921%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_745757"><div><strong>Macrocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>745757</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.">C2243051</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/745757">Feature record</a> | <a href="/medgen?term=%22Macrocephaly%22%5BClinical%20Features%5D%20OR%20745757%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2670"><div><strong>Blepharophimosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2670</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.">C0005744</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2670">Feature record</a> | <a href="/medgen?term=%22Blepharophimosis%22%5BClinical%20Features%5D%20OR%202670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116087"><div><strong>Round face</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116087</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.">C0239479</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The facial appearance is more circular than usual as viewed from the front.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116087">Feature record</a> | <a href="/medgen?term=%22Round%20face%22%5BClinical%20Features%5D%20OR%20116087%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108294"><div><strong>Thin vermilion border</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108294</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.">C0578038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108294">Feature record</a> | <a href="/medgen?term=%22Thin%20vermilion%20border%22%5BClinical%20Features%5D%20OR%20108294%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_151862"><div><strong>Epicanthus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>151862</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.">C0678230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/151862">Feature record</a> | <a href="/medgen?term=%22Epicanthus%22%5BClinical%20Features%5D%20OR%20151862%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_374311"><div><strong>Deep philtrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374311</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.">C1839797</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374311">Feature record</a> | <a href="/medgen?term=%22Deep%20philtrum%22%5BClinical%20Features%5D%20OR%20374311%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326648"><div><strong>Anteverted nares</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326648</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1840077</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326648">Feature record</a> | <a href="/medgen?term=%22Anteverted%20nares%22%5BClinical%20Features%5D%20OR%20326648%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_376842"><div><strong>Exaggerated cupid bow</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376842</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.">C1850629</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">More pronounced paramedian peaks and median notch of the Cupid's bow.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376842">Feature record</a> | <a href="/medgen?term=%22Exaggerated%20cupid%20bow%22%5BClinical%20Features%5D%20OR%20376842%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_377914"><div><strong>Thick eyebrow</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377914</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.">C1853487</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased density/number and/or increased diameter of eyebrow hairs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/377914">Feature record</a> | <a href="/medgen?term=%22Thick%20eyebrow%22%5BClinical%20Features%5D%20OR%20377914%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341783"><div><strong>Short columella</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341783</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.">C1857479</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced distance from the anterior border of the naris to the subnasale.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341783">Feature record</a> | <a href="/medgen?term=%22Short%20columella%22%5BClinical%20Features%5D%20OR%20341783%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_382506"><div><strong>Narrow palpebral fissure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382506</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.">C2675021</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduction in the vertical distance between the upper and lower eyelids.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382506">Feature record</a> | <a href="/medgen?term=%22Narrow%20palpebral%20fissure%22%5BClinical%20Features%5D%20OR%20382506%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_478649"><div><strong>Horizontal eyebrow</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>478649</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.">C3277019</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An eyebrow that extends straight across the brow, without curve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/478649">Feature record</a> | <a href="/medgen?term=%22Horizontal%20eyebrow%22%5BClinical%20Features%5D%20OR%20478649%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_869272"><div><strong>Everted upper lip vermilion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869272</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.">C4023698</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/869272">Feature record</a> | <a href="/medgen?term=%22Everted%20upper%20lip%20vermilion%22%5BClinical%20Features%5D%20OR%20869272%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5164"><div><strong>Fetal distress</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5164</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.">C0015930</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5164">Feature record</a> | <a href="/medgen?term=%22Fetal%20distress%22%5BClinical%20Features%5D%20OR%205164%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9373"><div><strong>Hypertelorism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9373</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9373">Feature record</a> | <a href="/medgen?term=%22Hypertelorism%22%5BClinical%20Features%5D%20OR%209373%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_137901"><div><strong>Optic nerve hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137901</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.">C0338502</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the optic nerve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/137901">Feature record</a> | <a href="/medgen?term=%22Optic%20nerve%20hypoplasia%22%5BClinical%20Features%5D%20OR%20137901%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anteverted nares</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blepharophimosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_374311" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deep philtrum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_151862" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epicanthus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869272" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Everted upper lip vermilion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_376842" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exaggerated cupid bow</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_478649" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Horizontal eyebrow</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_382506" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Narrow palpebral fissure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116087" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Round face</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341783" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short columella</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_377914" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thick eyebrow</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108294" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin vermilion border</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Patellar subluxation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57757" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Talipes valgus</a></span></li></ul></li><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal distress</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial septal defect</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitral regurgitation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11911" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tricuspid regurgitation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular septal defect</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_137901" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic nerve hypoplasia</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21852" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vesicoureteral reflux</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_745757" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrocephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140921" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sagittal craniosynostosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Umbilical hernia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_196689" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chiari type I malformation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4936" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Encephalomalacia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Febrile seizure (within the age range of 3 months to 6 years)</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_480553" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventriculomegaly</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_90701" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemihypertrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_376550" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Overgrowth</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_69137" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tall stature</a></span></li></ul></li></ul></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/37450557">Epigenetic Causes of Overgrowth Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lui JC,
|
||
Baron J</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2024 Jan 18;109(2):312-320.
|
||
doi: 10.1210/clinem/dgad420.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37450557" target="_blank">37450557</a><a href="/pmc/articles/PMC11032252" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31685998">Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tenorio J,
|
||
Alarcón P,
|
||
Arias P,
|
||
Dapía I,
|
||
García-Miñaur S,
|
||
Palomares Bralo M,
|
||
Campistol J,
|
||
Climent S,
|
||
Valenzuela I,
|
||
Ramos S,
|
||
Monseny AM,
|
||
Grondona FL,
|
||
Botet J,
|
||
Serrano M,
|
||
Solís M,
|
||
Santos-Simarro F,
|
||
Álvarez S,
|
||
Teixidó-Tura G,
|
||
Fernández Jaén A,
|
||
Gordo G,
|
||
Bardón Rivera MB,
|
||
Nevado J,
|
||
Hernández A,
|
||
Cigudosa JC,
|
||
Ruiz-Pérez VL,
|
||
Tizzano EF;
|
||
SOGRI Consortium,
|
||
Lapunzina P</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2020 Apr;28(4):469-479.
|
||
Epub 2019 Nov 4
|
||
doi: 10.1038/s41431-019-0485-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31685998" target="_blank">31685998</a><a href="/pmc/articles/PMC7080728" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29802153">Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Polonis K,
|
||
Blackburn PR,
|
||
Urrutia RA,
|
||
Lomberk GA,
|
||
Kruisselbrink T,
|
||
Cousin MA,
|
||
Boczek NJ,
|
||
Hoppman NL,
|
||
Babovic-Vuksanovic D,
|
||
Klee EW,
|
||
Pichurin PN</span><br />
|
||
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
|
||
2018 Aug;4(4)
|
||
Epub 2018 Aug 1
|
||
doi: 10.1101/mcs.a002899.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29802153" target="_blank">29802153</a><a href="/pmc/articles/PMC6071565" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28432085">Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hollink IHIM,
|
||
van den Ouweland AMW,
|
||
Beverloo HB,
|
||
Arentsen-Peters STCJM,
|
||
Zwaan CM,
|
||
Wagner A</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2017 Dec;54(12):805-808.
|
||
Epub 2017 Apr 21
|
||
doi: 10.1136/jmedgenet-2017-104574.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28432085" target="_blank">28432085</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27991732">Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kosaki R,
|
||
Terashima H,
|
||
Kubota M,
|
||
Kosaki K</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2017 Jan;173(1):250-253.
|
||
Epub 2016 Nov 7
|
||
doi: 10.1002/ajmg.a.37995.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27991732" target="_blank">27991732</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tatton-Brown-Rahman%20overgrowth%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (6)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38937076">Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thomas H,
|
||
Alix T,
|
||
Renard É,
|
||
Renaud M,
|
||
Wourms J,
|
||
Zuily S,
|
||
Leheup B,
|
||
Geneviève D,
|
||
Dreumont N,
|
||
Schmitt E,
|
||
Bronner M,
|
||
Muller M,
|
||
Divoux M,
|
||
Wandzel M,
|
||
Ravel JM,
|
||
Dexheimer M,
|
||
Becker A,
|
||
Roth V,
|
||
Willems M,
|
||
Coubes C,
|
||
Vieville G,
|
||
Devillard F,
|
||
Schaefer É,
|
||
Baer S,
|
||
Piton A,
|
||
Gérard B,
|
||
Vincent M,
|
||
Nizon M,
|
||
Cogné B,
|
||
Ruaud L,
|
||
Couque N,
|
||
Putoux A,
|
||
Edery P,
|
||
Lesca G,
|
||
Chatron N,
|
||
Till M,
|
||
Faivre L,
|
||
Tran-Mau-Them F,
|
||
Alessandri JL,
|
||
Lebrun M,
|
||
Quélin C,
|
||
Odent S,
|
||
Dubourg C,
|
||
David V,
|
||
Faoucher M,
|
||
Mignot C,
|
||
Keren B,
|
||
Pisan É,
|
||
Afenjar A,
|
||
Julia S,
|
||
Bieth É,
|
||
Banneau G,
|
||
Goldenberg A,
|
||
Husson T,
|
||
Campion D,
|
||
Lecoquierre F,
|
||
Nicolas G,
|
||
Charbonnier C,
|
||
De Saint Martin A,
|
||
Naudion S,
|
||
Degoutin M,
|
||
Rondeau S,
|
||
Michot C,
|
||
Cormier-Daire V,
|
||
Oussalah A,
|
||
Pourié C,
|
||
Lambert L,
|
||
Bonnet C</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2024 Aug 29;61(9):878-885.
|
||
doi: 10.1136/jmg-2024-110031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38937076" target="_blank">38937076</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36788738">Treatment of Primary Hyperparathyroidism in the Setting of Tatton-Brown-Rahman Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kalil GH,
|
||
Christopher WO,
|
||
Brister KA,
|
||
Orr WS</span><br />
|
||
<span class="medgenPMjournal">Am Surg</span>
|
||
2023 Jul;89(7):3203-3204.
|
||
Epub 2023 Feb 14
|
||
doi: 10.1177/00031348231157840.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36788738" target="_blank">36788738</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34644003">Aortic root dilatation and dilated cardiomyopathy in an adult with Tatton-Brown-Rahman syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cecchi AC,
|
||
Haidar A,
|
||
Marin I,
|
||
Kwartler CS,
|
||
Prakash SK,
|
||
Milewicz DM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Feb;188(2):628-634.
|
||
Epub 2021 Oct 13
|
||
doi: 10.1002/ajmg.a.62541.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34644003" target="_blank">34644003</a><a href="/pmc/articles/PMC9175539" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32815590">Behavioral and dental management of a patient with Tatton-Brown-Rahman syndrome: Case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paz-Alegría MC,
|
||
Gómez-Forero D,
|
||
Osorio-Patiño J,
|
||
Jaramillo-Echeverry A</span><br />
|
||
<span class="medgenPMjournal">Spec Care Dentist</span>
|
||
2020 Nov;40(6):597-604.
|
||
Epub 2020 Aug 20
|
||
doi: 10.1111/scd.12513.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32815590" target="_blank">32815590</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28432085">Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hollink IHIM,
|
||
van den Ouweland AMW,
|
||
Beverloo HB,
|
||
Arentsen-Peters STCJM,
|
||
Zwaan CM,
|
||
Wagner A</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2017 Dec;54(12):805-808.
|
||
Epub 2017 Apr 21
|
||
doi: 10.1136/jmedgenet-2017-104574.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28432085" target="_blank">28432085</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tatton-Brown-Rahman%20overgrowth%20syndrome%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 (10)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34721301">Case Report: Bilateral Epiphysiodesis Due to Extreme Tall Stature in a Girl With a De Novo DNMT3A Variant Associated With Tatton-Brown-Rahman Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lennartsson O,
|
||
Lodefalk M,
|
||
Wehtje H,
|
||
Stattin EL,
|
||
Sävendahl L,
|
||
Nilsson O</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2021;12:752756.
|
||
Epub 2021 Oct 13
|
||
doi: 10.3389/fendo.2021.752756.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34721301" target="_blank">34721301</a><a href="/pmc/articles/PMC8550159" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tatton-Brown-Rahman%20overgrowth%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38937076">Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thomas H,
|
||
Alix T,
|
||
Renard É,
|
||
Renaud M,
|
||
Wourms J,
|
||
Zuily S,
|
||
Leheup B,
|
||
Geneviève D,
|
||
Dreumont N,
|
||
Schmitt E,
|
||
Bronner M,
|
||
Muller M,
|
||
Divoux M,
|
||
Wandzel M,
|
||
Ravel JM,
|
||
Dexheimer M,
|
||
Becker A,
|
||
Roth V,
|
||
Willems M,
|
||
Coubes C,
|
||
Vieville G,
|
||
Devillard F,
|
||
Schaefer É,
|
||
Baer S,
|
||
Piton A,
|
||
Gérard B,
|
||
Vincent M,
|
||
Nizon M,
|
||
Cogné B,
|
||
Ruaud L,
|
||
Couque N,
|
||
Putoux A,
|
||
Edery P,
|
||
Lesca G,
|
||
Chatron N,
|
||
Till M,
|
||
Faivre L,
|
||
Tran-Mau-Them F,
|
||
Alessandri JL,
|
||
Lebrun M,
|
||
Quélin C,
|
||
Odent S,
|
||
Dubourg C,
|
||
David V,
|
||
Faoucher M,
|
||
Mignot C,
|
||
Keren B,
|
||
Pisan É,
|
||
Afenjar A,
|
||
Julia S,
|
||
Bieth É,
|
||
Banneau G,
|
||
Goldenberg A,
|
||
Husson T,
|
||
Campion D,
|
||
Lecoquierre F,
|
||
Nicolas G,
|
||
Charbonnier C,
|
||
De Saint Martin A,
|
||
Naudion S,
|
||
Degoutin M,
|
||
Rondeau S,
|
||
Michot C,
|
||
Cormier-Daire V,
|
||
Oussalah A,
|
||
Pourié C,
|
||
Lambert L,
|
||
Bonnet C</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2024 Aug 29;61(9):878-885.
|
||
doi: 10.1136/jmg-2024-110031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38937076" target="_blank">38937076</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38522809">Skeletal abnormalities in mice with Dnmt3a missense mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bell-Hensley A,
|
||
Beard DC,
|
||
Feeney K,
|
||
Zheng H,
|
||
Jiang Y,
|
||
Zhang X,
|
||
Liu J,
|
||
Gabel H,
|
||
McAlinden A</span><br />
|
||
<span class="medgenPMjournal">Bone</span>
|
||
2024 Jun;183:117085.
|
||
Epub 2024 Mar 23
|
||
doi: 10.1016/j.bone.2024.117085.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38522809" target="_blank">38522809</a><a href="/pmc/articles/PMC11057337" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34644003">Aortic root dilatation and dilated cardiomyopathy in an adult with Tatton-Brown-Rahman syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cecchi AC,
|
||
Haidar A,
|
||
Marin I,
|
||
Kwartler CS,
|
||
Prakash SK,
|
||
Milewicz DM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Feb;188(2):628-634.
|
||
Epub 2021 Oct 13
|
||
doi: 10.1002/ajmg.a.62541.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34644003" target="_blank">34644003</a><a href="/pmc/articles/PMC9175539" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28941052">The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shen W,
|
||
Heeley JM,
|
||
Carlston CM,
|
||
Acuna-Hidalgo R,
|
||
Nillesen WM,
|
||
Dent KM,
|
||
Douglas GV,
|
||
Levine KL,
|
||
Bayrak-Toydemir P,
|
||
Marcelis CL,
|
||
Shinawi M,
|
||
Carey JC</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2017 Nov;173(11):3022-3028.
|
||
Epub 2017 Sep 21
|
||
doi: 10.1002/ajmg.a.38485.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28941052" target="_blank">28941052</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27991732">Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kosaki R,
|
||
Terashima H,
|
||
Kubota M,
|
||
Kosaki K</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2017 Jan;173(1):250-253.
|
||
Epub 2016 Nov 7
|
||
doi: 10.1002/ajmg.a.37995.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27991732" target="_blank">27991732</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tatton-Brown-Rahman%20overgrowth%20syndrome%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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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4014545%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (18)</a></li>
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<li><a href="/gtr/tests?term=C4014545%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C4014545%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (23)</a></li>
|
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<li><a href="/gtr/tests?term=C4014545%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (8)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4014545%5bDISCUI%5d" target="_blank">See all (27)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/tatton_brown_rahman_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Tatton-Brown-Rahman%20overgrowth%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/dnmt3a-overgrowth-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/17674/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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