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<meta name="keywords" content="C3151120, cdt1, cdt1 meier-gorlin syndrome, disease or syndrome, meier-gorlin syndrome 4, meier-gorlin syndrome caused by mutation in cdt1, meier-gorlin syndrome type 4, mgors4, 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="Meier-Gorlin syndrome-4 (MGORS4) is a rare autosomal recessive disorder with the hallmarks of short stature, small external ears, and reduced or absent patellae. Breast hypoplasia is present in females (Guernsey et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of Meier-Gorlin syndrome, see 224690." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=462470
|
||
ConceptID=C3151120
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Meier-Gorlin syndrome 4<span class="h1sub">(MGORS4)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462470</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:">C3151120</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>MGORS4</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="CDT1 - ID: 81620 - NCBI Gene" href="/gene/81620" class="medgenPMinfo">CDT1</a> (16q24.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013431" target="_blank">MONDO:0013431</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/613804" target="_blank">613804</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>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Meier-Gorlin syndrome-4 (MGORS4) is a rare autosomal recessive disorder with the hallmarks of short stature, small external ears, and reduced or absent patellae. Breast hypoplasia is present in females (Guernsey et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of Meier-Gorlin syndrome, see 224690. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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||
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Additional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.<br /><br />Abnormalities in sexual development may also occur in Meier-Gorlin syndrome. In some males with this condition, the testes are small or undescended (cryptorchidism). Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females with this condition can have sparse or absent underarm (axillary) hair.<br /><br />Most people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge.<br /><br />Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect.<br /><br />Some people with Meier-Gorlin syndrome have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum), and slowed mineralization of bones (delayed bone age). <a target="_blank" href="https://medlineplus.gov/genetics/condition/meier-gorlin-syndrome">https://medlineplus.gov/genetics/condition/meier-gorlin-syndrome</a></div></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<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_8192"><div><strong>Cryptorchidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8192</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.">C0010417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8192">Feature record</a> | <a href="/medgen?term=%22Cryptorchidism%22%5BClinical%20Features%5D%20OR%208192%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107486"><div><strong>Genu recurvatum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107486</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.">C0546964</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased extension of the knee joint, so that the knee can bend backwards.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107486">Feature record</a> | <a href="/medgen?term=%22Genu%20recurvatum%22%5BClinical%20Features%5D%20OR%20107486%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_401474"><div><strong>Patellar aplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401474</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.">C1868578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of the patella.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/401474">Feature record</a> | <a href="/medgen?term=%22Patellar%20aplasia%22%5BClinical%20Features%5D%20OR%20401474%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4693"><div><strong>Fetal growth restriction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4693</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.">C0015934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4693">Feature record</a> | <a href="/medgen?term=%22Fetal%20growth%20restriction%22%5BClinical%20Features%5D%20OR%204693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</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.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340924"><div><strong>Birth length less than 3rd percentile</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340924</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.">C1855650</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340924">Feature record</a> | <a href="/medgen?term=%22Birth%20length%20less%20than%203rd%20percentile%22%5BClinical%20Features%5D%20OR%20340924%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_746019"><div><strong>Failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>746019</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.">C2315100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/746019">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20746019%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65429"><div><strong>Feeding difficulties</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65429</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.">C0232466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65429">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%22%5BClinical%20Features%5D%20OR%2065429%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57535"><div><strong>Microtia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57535</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.">C0152423</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the external ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57535">Feature record</a> | <a href="/medgen?term=%22Microtia%22%5BClinical%20Features%5D%20OR%2057535%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65980"><div><strong>Low-set ears</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65980</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.">C0239234</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65980">Feature record</a> | <a href="/medgen?term=%22Low-set%20ears%22%5BClinical%20Features%5D%20OR%2065980%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_44428"><div><strong>Micrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44428</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.">C0025990</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental hypoplasia of the mandible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44428">Feature record</a> | <a href="/medgen?term=%22Micrognathia%22%5BClinical%20Features%5D%20OR%2044428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66804"><div><strong>Hypoplasia of the maxilla</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66804</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.">C0240310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66804">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20maxilla%22%5BClinical%20Features%5D%20OR%2066804%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98426"><div><strong>Lateral clavicle hook</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98426</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.">C0426805</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An excessive upward convexity of the lateral clavicle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98426">Feature record</a> | <a href="/medgen?term=%22Lateral%20clavicle%20hook%22%5BClinical%20Features%5D%20OR%2098426%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108148"><div><strong>Delayed skeletal maturation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108148</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.">C0541764</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108148">Feature record</a> | <a href="/medgen?term=%22Delayed%20skeletal%20maturation%22%5BClinical%20Features%5D%20OR%20108148%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_331446"><div><strong>Slender long bone</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331446</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.">C1833144</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced diameter of a long bone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331446">Feature record</a> | <a href="/medgen?term=%22Slender%20long%20bone%22%5BClinical%20Features%5D%20OR%20331446%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</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.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18764"><div><strong>Emphysema</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18764</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.">C0034067</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18764">Feature record</a> | <a href="/medgen?term=%22Emphysema%22%5BClinical%20Features%5D%20OR%2018764%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44435"><div><strong>Narrow mouth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44435</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.">C0026034</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44435">Feature record</a> | <a href="/medgen?term=%22Narrow%20mouth%22%5BClinical%20Features%5D%20OR%2044435%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326567"><div><strong>Thick lower lip vermilion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326567</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.">C1839739</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326567">Feature record</a> | <a href="/medgen?term=%22Thick%20lower%20lip%20vermilion%22%5BClinical%20Features%5D%20OR%20326567%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75594"><div><strong>Breast hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75594</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.">C0266013</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the breast.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75594">Feature record</a> | <a href="/medgen?term=%22Breast%20hypoplasia%22%5BClinical%20Features%5D%20OR%2075594%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_44435" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Narrow mouth</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326567" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thick lower lip vermilion</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_107486" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Genu recurvatum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_401474" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Patellar aplasia</a></span></li></ul></li><li><span class="TLline">Abnormality of the breast</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75594" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Breast hypoplasia</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties</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_8192" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cryptorchidism</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_108148" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed skeletal maturation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66804" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the maxilla</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98426" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lateral clavicle hook</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micrognathia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_331446" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Slender long bone</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_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></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18764" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Emphysema</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low-set ears</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57535" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microtia</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_340924" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Birth length less than 3rd percentile</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_746019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal growth restriction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short 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/39597091">Clinical Challenges in Diagnosing Primordial Dwarfism: Insights from a MOPD II Case Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jurca AD,
|
||
Petchesi CD,
|
||
Jurca S,
|
||
Severin E,
|
||
Jurca AA,
|
||
Jurca CM</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2024 Nov 20;60(11)
|
||
doi: 10.3390/medicina60111906.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39597091" target="_blank">39597091</a><a href="/pmc/articles/PMC11596399" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36630262">A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akalın A,
|
||
Şimşek-Kiper PÖ,
|
||
Taşkıran EZ,
|
||
Karaosmanoğlu B,
|
||
Utine GE,
|
||
Boduroğlu K</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2023 Apr;191(4):1119-1127.
|
||
Epub 2023 Jan 11
|
||
doi: 10.1002/ajmg.a.63120.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36630262" target="_blank">36630262</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28425089">High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim YM,
|
||
Lee YJ,
|
||
Park JH,
|
||
Lee HD,
|
||
Cheon CK,
|
||
Kim SY,
|
||
Hwang JY,
|
||
Jang JH,
|
||
Yoo HW</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2017 Dec;92(6):594-605.
|
||
Epub 2017 Aug 30
|
||
doi: 10.1111/cge.13038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28425089" target="_blank">28425089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23023959">Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Munnik SA,
|
||
Otten BJ,
|
||
Schoots J,
|
||
Bicknell LS,
|
||
Aftimos S,
|
||
Al-Aama JY,
|
||
van Bever Y,
|
||
Bober MB,
|
||
Borm GF,
|
||
Clayton-Smith J,
|
||
Deal CL,
|
||
Edrees AY,
|
||
Feingold M,
|
||
Fryer A,
|
||
van Hagen JM,
|
||
Hennekam RC,
|
||
Jansweijer MC,
|
||
Johnson D,
|
||
Kant SG,
|
||
Opitz JM,
|
||
Ramadevi AR,
|
||
Reardon W,
|
||
Ross A,
|
||
Sarda P,
|
||
Schrander-Stumpel CT,
|
||
Sluiter AE,
|
||
Temple IK,
|
||
Terhal PA,
|
||
Toutain A,
|
||
Wise CA,
|
||
Wright M,
|
||
Skidmore DL,
|
||
Samuels ME,
|
||
Hoefsloot LH,
|
||
Knoers NV,
|
||
Brunner HG,
|
||
Jackson AP,
|
||
Bongers EM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2012 Nov;158A(11):2733-42.
|
||
Epub 2012 Sep 28
|
||
doi: 10.1002/ajmg.a.35681.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23023959" target="_blank">23023959</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16143015">Human syndromes with congenital patellar anomalies and the underlying gene defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bongers EM,
|
||
van Kampen A,
|
||
van Bokhoven H,
|
||
Knoers NV</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2005 Oct;68(4):302-19.
|
||
doi: 10.1111/j.1399-0004.2005.00508.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16143015" target="_blank">16143015</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Meier-Gorlin%20syndrome%204%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 (5)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39789585">A novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Q,
|
||
Wu Y,
|
||
Meng F,
|
||
Li Z,
|
||
Zhan D,
|
||
Luo X</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Dec 18;19(1):465.
|
||
doi: 10.1186/s13023-024-03430-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39789585" target="_blank">39789585</a><a href="/pmc/articles/PMC11715027" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38934085">Meier-Gorlin syndrome type 7: a rare cause of primordial dwarfism: two new cases and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Çetinkaya D,
|
||
Doğan Ari AB,
|
||
Kiliç E</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2024 Oct 1;33(4):167-170.
|
||
Epub 2024 Jun 17
|
||
doi: 10.1097/MCD.0000000000000504.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38934085" target="_blank">38934085</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36012502">Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nazarenko MS,
|
||
Viakhireva IV,
|
||
Skoblov MY,
|
||
Soloveva EV,
|
||
Sleptcov AA,
|
||
Nazarenko LP</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Aug 17;23(16)
|
||
doi: 10.3390/ijms23169234.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36012502" target="_blank">36012502</a><a href="/pmc/articles/PMC9408996" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28425089">High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim YM,
|
||
Lee YJ,
|
||
Park JH,
|
||
Lee HD,
|
||
Cheon CK,
|
||
Kim SY,
|
||
Hwang JY,
|
||
Jang JH,
|
||
Yoo HW</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2017 Dec;92(6):594-605.
|
||
Epub 2017 Aug 30
|
||
doi: 10.1111/cge.13038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28425089" target="_blank">28425089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23023959">Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Munnik SA,
|
||
Otten BJ,
|
||
Schoots J,
|
||
Bicknell LS,
|
||
Aftimos S,
|
||
Al-Aama JY,
|
||
van Bever Y,
|
||
Bober MB,
|
||
Borm GF,
|
||
Clayton-Smith J,
|
||
Deal CL,
|
||
Edrees AY,
|
||
Feingold M,
|
||
Fryer A,
|
||
van Hagen JM,
|
||
Hennekam RC,
|
||
Jansweijer MC,
|
||
Johnson D,
|
||
Kant SG,
|
||
Opitz JM,
|
||
Ramadevi AR,
|
||
Reardon W,
|
||
Ross A,
|
||
Sarda P,
|
||
Schrander-Stumpel CT,
|
||
Sluiter AE,
|
||
Temple IK,
|
||
Terhal PA,
|
||
Toutain A,
|
||
Wise CA,
|
||
Wright M,
|
||
Skidmore DL,
|
||
Samuels ME,
|
||
Hoefsloot LH,
|
||
Knoers NV,
|
||
Brunner HG,
|
||
Jackson AP,
|
||
Bongers EM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2012 Nov;158A(11):2733-42.
|
||
Epub 2012 Sep 28
|
||
doi: 10.1002/ajmg.a.35681.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23023959" target="_blank">23023959</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Meier-Gorlin%20syndrome%204%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 (6)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39789585">A novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Q,
|
||
Wu Y,
|
||
Meng F,
|
||
Li Z,
|
||
Zhan D,
|
||
Luo X</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Dec 18;19(1):465.
|
||
doi: 10.1186/s13023-024-03430-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39789585" target="_blank">39789585</a><a href="/pmc/articles/PMC11715027" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23023959">Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Munnik SA,
|
||
Otten BJ,
|
||
Schoots J,
|
||
Bicknell LS,
|
||
Aftimos S,
|
||
Al-Aama JY,
|
||
van Bever Y,
|
||
Bober MB,
|
||
Borm GF,
|
||
Clayton-Smith J,
|
||
Deal CL,
|
||
Edrees AY,
|
||
Feingold M,
|
||
Fryer A,
|
||
van Hagen JM,
|
||
Hennekam RC,
|
||
Jansweijer MC,
|
||
Johnson D,
|
||
Kant SG,
|
||
Opitz JM,
|
||
Ramadevi AR,
|
||
Reardon W,
|
||
Ross A,
|
||
Sarda P,
|
||
Schrander-Stumpel CT,
|
||
Sluiter AE,
|
||
Temple IK,
|
||
Terhal PA,
|
||
Toutain A,
|
||
Wise CA,
|
||
Wright M,
|
||
Skidmore DL,
|
||
Samuels ME,
|
||
Hoefsloot LH,
|
||
Knoers NV,
|
||
Brunner HG,
|
||
Jackson AP,
|
||
Bongers EM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2012 Nov;158A(11):2733-42.
|
||
Epub 2012 Sep 28
|
||
doi: 10.1002/ajmg.a.35681.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23023959" target="_blank">23023959</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Meier-Gorlin%20syndrome%204%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39789585">A novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Q,
|
||
Wu Y,
|
||
Meng F,
|
||
Li Z,
|
||
Zhan D,
|
||
Luo X</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Dec 18;19(1):465.
|
||
doi: 10.1186/s13023-024-03430-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39789585" target="_blank">39789585</a><a href="/pmc/articles/PMC11715027" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38467731">A second hotspot for pathogenic exon-skipping variants in CDC45.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schoch K,
|
||
Ruegg MSG,
|
||
Fellows BJ,
|
||
Cao J,
|
||
Uhrig S,
|
||
Einsele-Scholz S,
|
||
Biskup S,
|
||
Hawarden SRA,
|
||
Salpietro V,
|
||
Capra V;
|
||
Undiagnosed Diseases Network,
|
||
Brown CM,
|
||
Accogli A,
|
||
Shashi V,
|
||
Bicknell LS</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2024 Jul;32(7):786-794.
|
||
Epub 2024 Mar 11
|
||
doi: 10.1038/s41431-024-01583-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38467731" target="_blank">38467731</a><a href="/pmc/articles/PMC11219862" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36012502">Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nazarenko MS,
|
||
Viakhireva IV,
|
||
Skoblov MY,
|
||
Soloveva EV,
|
||
Sleptcov AA,
|
||
Nazarenko LP</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Aug 17;23(16)
|
||
doi: 10.3390/ijms23169234.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36012502" target="_blank">36012502</a><a href="/pmc/articles/PMC9408996" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33639314">A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Knapp KM,
|
||
Fellows B,
|
||
Aggarwal S,
|
||
Dalal A,
|
||
Bicknell LS</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2021 Apr;64(4):104182.
|
||
Epub 2021 Feb 25
|
||
doi: 10.1016/j.ejmg.2021.104182.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33639314" target="_blank">33639314</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Meier-Gorlin%20syndrome%204%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39789585">A novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Q,
|
||
Wu Y,
|
||
Meng F,
|
||
Li Z,
|
||
Zhan D,
|
||
Luo X</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Dec 18;19(1):465.
|
||
doi: 10.1186/s13023-024-03430-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39789585" target="_blank">39789585</a><a href="/pmc/articles/PMC11715027" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38467731">A second hotspot for pathogenic exon-skipping variants in CDC45.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schoch K,
|
||
Ruegg MSG,
|
||
Fellows BJ,
|
||
Cao J,
|
||
Uhrig S,
|
||
Einsele-Scholz S,
|
||
Biskup S,
|
||
Hawarden SRA,
|
||
Salpietro V,
|
||
Capra V;
|
||
Undiagnosed Diseases Network,
|
||
Brown CM,
|
||
Accogli A,
|
||
Shashi V,
|
||
Bicknell LS</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2024 Jul;32(7):786-794.
|
||
Epub 2024 Mar 11
|
||
doi: 10.1038/s41431-024-01583-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38467731" target="_blank">38467731</a><a href="/pmc/articles/PMC11219862" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36012502">Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nazarenko MS,
|
||
Viakhireva IV,
|
||
Skoblov MY,
|
||
Soloveva EV,
|
||
Sleptcov AA,
|
||
Nazarenko LP</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Aug 17;23(16)
|
||
doi: 10.3390/ijms23169234.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36012502" target="_blank">36012502</a><a href="/pmc/articles/PMC9408996" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33639314">A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Knapp KM,
|
||
Fellows B,
|
||
Aggarwal S,
|
||
Dalal A,
|
||
Bicknell LS</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2021 Apr;64(4):104182.
|
||
Epub 2021 Feb 25
|
||
doi: 10.1016/j.ejmg.2021.104182.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33639314" target="_blank">33639314</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28112645">Structure of the active form of human origin recognition complex and its ATPase motor module.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tocilj A,
|
||
On KF,
|
||
Yuan Z,
|
||
Sun J,
|
||
Elkayam E,
|
||
Li H,
|
||
Stillman B,
|
||
Joshua-Tor L</span><br />
|
||
<span class="medgenPMjournal">Elife</span>
|
||
2017 Jan 23;6
|
||
doi: 10.7554/eLife.20818.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28112645" target="_blank">28112645</a><a href="/pmc/articles/PMC5291709" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Meier-Gorlin%20syndrome%204%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>
|
||
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|
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|
||
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|
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|
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|
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|
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|
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|
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|
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<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>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3151120%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (18)</a></li>
|
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<li><a href="/gtr/tests?term=C3151120%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3151120%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (26)</a></li>
|
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<li><a href="/gtr/tests?term=C3151120%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (10)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3151120%5bDISCUI%5d" target="_blank">See all (29)</a></total></li>
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