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<meta name="keywords" content="C2676790, cc2d2a, cc2d2a meckel syndrome, cc2d2a-related meckel syndrome, disease or syndrome, meckel syndrome 6, meckel syndrome caused by mutation in cc2d2a, meckel syndrome, type 6, meckel-gruber syndrome, type 6, mks6, 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="Because of their serious health problems, most individuals with Meckel syndrome die before or shortly after birth. Most often, affected infants die of respiratory problems or kidney failure.\n\nOther signs and symptoms of Meckel syndrome vary widely among affected individuals. Numerous abnormalities of the brain and spinal cord (central nervous system) have been reported in people with Meckel syndrome, including a group of birth defects known as neural tube defects. These defects occur when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Meckel syndrome can also cause problems with development of the eyes and other facial features, heart, bones, urinary system, and genitalia.\n\nMeckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. The most common features are enlarged kidneys with numerous fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion of the brain through an opening at the back of the skull; and the presence of extra fingers and toes (polydactyly). Most affected individuals also have a buildup of scar tissue (fibrosis) in the liver." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=382942
|
||
ConceptID=C2676790
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Meckel syndrome, type 6<span class="h1sub">(MKS6)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382942</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:">C2676790</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>CC2D2A-Related Meckel Syndrome</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="CC2D2A - ID: 57545 - NCBI Gene" href="/gene/57545" class="medgenPMinfo">CC2D2A</a> (4p15.32)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012848" target="_blank">MONDO:0012848</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/612284" target="_blank">612284</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>
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||
<div class="portlet_content ln">Because of their serious health problems, most individuals with Meckel syndrome die before or shortly after birth. Most often, affected infants die of respiratory problems or kidney failure.<br /><br />Other signs and symptoms of Meckel syndrome vary widely among affected individuals. Numerous abnormalities of the brain and spinal cord (central nervous system) have been reported in people with Meckel syndrome, including a group of birth defects known as neural tube defects. These defects occur when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Meckel syndrome can also cause problems with development of the eyes and other facial features, heart, bones, urinary system, and genitalia.<br /><br />Meckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. The most common features are enlarged kidneys with numerous fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion of the brain through an opening at the back of the skull; and the presence of extra fingers and toes (polydactyly). Most affected individuals also have a buildup of scar tissue (fibrosis) in the liver. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</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_65140"><div><strong>Horseshoe kidney</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65140</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.">C0221353</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65140">Feature record</a> | <a href="/medgen?term=%22Horseshoe%20kidney%22%5BClinical%20Features%5D%20OR%2065140%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_854361"><div><strong>Renal cyst</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854361</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.">C3887499</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A fluid filled sac in the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854361">Feature record</a> | <a href="/medgen?term=%22Renal%20cyst%22%5BClinical%20Features%5D%20OR%20854361%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_869385"><div><strong>Aplasia of the bladder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869385</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.">C4023812</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Aplasia (absence) of the urinary bladder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/869385">Feature record</a> | <a href="/medgen?term=%22Aplasia%20of%20the%20bladder%22%5BClinical%20Features%5D%20OR%20869385%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871334"><div><strong>Abnormal internal genitalia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871334</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.">C4025824</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871334">Feature record</a> | <a href="/medgen?term=%22Abnormal%20internal%20genitalia%22%5BClinical%20Features%5D%20OR%20871334%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3130"><div><strong>Clubfoot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3130</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.">C0009081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3130">Feature record</a> | <a href="/medgen?term=%22Clubfoot%22%5BClinical%20Features%5D%20OR%203130%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_609221"><div><strong>Postaxial hand polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>609221</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.">C0431904</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/609221">Feature record</a> | <a href="/medgen?term=%22Postaxial%20hand%20polydactyly%22%5BClinical%20Features%5D%20OR%20609221%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_384489"><div><strong>Postaxial foot polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>384489</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.">C2112129</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/384489">Feature record</a> | <a href="/medgen?term=%22Postaxial%20foot%20polydactyly%22%5BClinical%20Features%5D%20OR%20384489%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116093"><div><strong>Hepatic fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116093</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.">C0239946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116093">Feature record</a> | <a href="/medgen?term=%22Hepatic%20fibrosis%22%5BClinical%20Features%5D%20OR%20116093%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82736"><div><strong>Isolated agenesis of gallbladder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82736</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.">C0266251</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A developmental defect in which the gallbladder fails to form.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82736">Feature record</a> | <a href="/medgen?term=%22Isolated%20agenesis%20of%20gallbladder%22%5BClinical%20Features%5D%20OR%2082736%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120603"><div><strong>Bile duct proliferation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120603</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.">C0267818</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Proliferative changes of the bile ducts.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120603">Feature record</a> | <a href="/medgen?term=%22Bile%20duct%20proliferation%22%5BClinical%20Features%5D%20OR%20120603%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82761"><div><strong>Hepatic cysts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82761</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.">C0267834</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cystic lesion located in the liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82761">Feature record</a> | <a href="/medgen?term=%22Hepatic%20cysts%22%5BClinical%20Features%5D%20OR%2082761%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1643791"><div><strong>Cystic liver disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1643791</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.">C4551631</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1643791">Feature record</a> | <a href="/medgen?term=%22Cystic%20liver%20disease%22%5BClinical%20Features%5D%20OR%201643791%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8068"><div><strong>Anencephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8068</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.">C0002902</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anencephaly is a condition that prevents the normal development of the brain and the bones of the skull. This condition results when a structure called the neural tube fails to close during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spinal cord. Because anencephaly is caused by abnormalities of the neural tube, it is classified as a neural tube defect.\n\nBecause the neural tube fails to close properly, the developing brain and spinal cord are exposed to the amniotic fluid that surrounds the fetus in the womb. This exposure causes the nervous system tissue to break down (degenerate). As a result, people with anencephaly are missing large parts of the brain called the cerebrum and cerebellum. These brain regions are necessary for thinking, hearing, vision, emotion, and coordinating movement. The bones of the skull are also missing or incompletely formed.\n\nBecause these nervous system abnormalities are so severe, almost all babies with anencephaly die before birth or within a few hours or days after birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8068">Feature record</a> | <a href="/medgen?term=%22Anencephaly%22%5BClinical%20Features%5D%20OR%208068%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4935"><div><strong>Occipital encephalocele</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4935</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.">C0014067</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4935">Feature record</a> | <a href="/medgen?term=%22Occipital%20encephalocele%22%5BClinical%20Features%5D%20OR%204935%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9335"><div><strong>Hydrocephalus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9335</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.">C0020255</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9335">Feature record</a> | <a href="/medgen?term=%22Hydrocephalus%22%5BClinical%20Features%5D%20OR%209335%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78574"><div><strong>Pulmonary hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78574</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.">C0265783</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78574">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20hypoplasia%22%5BClinical%20Features%5D%20OR%2078574%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_539498"><div><strong>Bilobed right lung</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>539498</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.">C0265792</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/539498">Feature record</a> | <a href="/medgen?term=%22Bilobed%20right%20lung%22%5BClinical%20Features%5D%20OR%20539498%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_40327"><div><strong>Cleft upper lip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>40327</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.">C0008924</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/40327">Feature record</a> | <a href="/medgen?term=%22Cleft%20upper%20lip%22%5BClinical%20Features%5D%20OR%2040327%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_756015"><div><strong>Cleft palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>756015</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.">C2981150</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/756015">Feature record</a> | <a href="/medgen?term=%22Cleft%20palate%22%5BClinical%20Features%5D%20OR%20756015%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_756015" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleft palate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_40327" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleft upper lip</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_3130" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clubfoot</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_384489" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Postaxial foot polydactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_609221" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Postaxial hand polydactyly</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_120603" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bile duct proliferation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1643791" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cystic liver disease</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82761" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic cysts</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116093" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic fibrosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82736" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isolated agenesis of gallbladder</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_871334" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal internal genitalia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869385" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aplasia of the bladder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65140" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Horseshoe kidney</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854361" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal cyst</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_8068" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anencephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9335" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydrocephalus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4935" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Occipital encephalocele</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_539498" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilobed right lung</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78574" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary hypoplasia</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0265215[DISCUI]&test_type=Clinical" ref="ncbi_uid=120513">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0265215[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=120513">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=120513" ref="ncbi_uid=120513">V</a></span></span><span class="TLline"><a href="/medgen/120513" ref="tree=GTR&ncbi_uid=120513&link_uid=120513" title="View MedGen record for 'Meckel-Gruber syndrome'">Meckel-Gruber syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3714506[DISCUI]&test_type=Clinical" ref="ncbi_uid=811346">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=811346" target="_blank" href="/omim/249000">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=811346" ref="ncbi_uid=811346">V</a></span></span><span class="TLline"><a href="/medgen/811346" ref="tree=GTR&ncbi_uid=811346&link_uid=811346" title="View MedGen record for 'Meckel syndrome, type 1'">Meckel syndrome, type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864148[DISCUI]&test_type=Clinical" ref="ncbi_uid=351059">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=351059" target="_blank" href="/omim/603194">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=351059" ref="ncbi_uid=351059">V</a></span></span><span class="TLline"><a href="/medgen/351059" ref="tree=GTR&ncbi_uid=351059&link_uid=351059" title="View MedGen record for 'Meckel syndrome, type 2'">Meckel syndrome, type 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1846357[DISCUI]&test_type=Clinical" ref="ncbi_uid=335402">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335402" target="_blank" href="/omim/607361">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=335402" ref="ncbi_uid=335402">V</a></span></span><span class="TLline"><a href="/medgen/335402" ref="tree=GTR&ncbi_uid=335402&link_uid=335402" title="View MedGen record for 'Meckel syndrome, type 3'">Meckel syndrome, type 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1970161[DISCUI]&test_type=Clinical" ref="ncbi_uid=410003">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=410003" target="_blank" href="/omim/610142">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=410003" ref="ncbi_uid=410003">V</a></span></span><span class="TLline"><a href="/medgen/410003" ref="tree=GTR&ncbi_uid=410003&link_uid=410003" title="View MedGen record for 'Meckel syndrome, type 4'">Meckel syndrome, type 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1969052[DISCUI]&test_type=Clinical" ref="ncbi_uid=409740">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=409740" target="_blank" href="/omim/610937">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=409740" ref="ncbi_uid=409740">V</a></span></span><span class="TLline"><a href="/medgen/409740" ref="tree=GTR&ncbi_uid=409740&link_uid=409740" title="View MedGen record for 'Meckel syndrome, type 5'">Meckel syndrome, type 5</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2676790[DISCUI]&test_type=Clinical" ref="ncbi_uid=382942">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=382942" target="_blank" href="/omim/612013">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=382942" ref="ncbi_uid=382942">V</a></span></span><span class="TLline">Meckel syndrome, type 6</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3836857[DISCUI]&test_type=Clinical" ref="ncbi_uid=854220">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854220" target="_blank" href="/omim/613846">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854220" ref="ncbi_uid=854220">V</a></span></span><span class="TLline"><a href="/medgen/854220" ref="tree=GTR&ncbi_uid=854220&link_uid=854220" title="View MedGen record for 'Meckel syndrome, type 8'">Meckel syndrome, type 8</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280155[DISCUI]&test_type=Clinical" ref="ncbi_uid=481785">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481785" target="_blank" href="/omim/614144">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481785" ref="ncbi_uid=481785">V</a></span></span><span class="TLline"><a href="/medgen/481785" ref="tree=GTR&ncbi_uid=481785&link_uid=481785" title="View MedGen record for 'Meckel syndrome, type 9'">Meckel syndrome, type 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280036[DISCUI]&test_type=Clinical" ref="ncbi_uid=481666">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481666" target="_blank" href="/omim/611951">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481666" ref="ncbi_uid=481666">V</a></span></span><span class="TLline"><a href="/medgen/481666" ref="tree=GTR&ncbi_uid=481666&link_uid=481666" title="View MedGen record for 'Meckel syndrome, type 10'">Meckel syndrome, type 10</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2673885[DISCUI]&test_type=Clinical" ref="ncbi_uid=382217">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=382217" target="_blank" href="/omim/267010">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=382217" ref="ncbi_uid=382217">V</a></span></span><span class="TLline"><a href="/medgen/382217" ref="tree=GTR&ncbi_uid=382217&link_uid=382217" title="View MedGen record for 'NPHP3-related Meckel-like syndrome'">NPHP3-related Meckel-like syndrome</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842297" ref="tree=MeSH" title="MedGen record for Familial cystic renal disease">Familial cystic renal disease</a></span><ul><li><span class="TLline"><a href="/medgen/120513" ref="tree=MeSH" title="MedGen record for Meckel-Gruber syndrome">Meckel-Gruber syndrome</a></span><ul><li><span class="matched_ds">Meckel syndrome, type 6</span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32003477">Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dąbkowska S,
|
||
Kucińska-Chahwan A,
|
||
Beneturska A,
|
||
Ilnicka A,
|
||
Nowakowska B,
|
||
Panek G,
|
||
Roszkowski T,
|
||
Bijok J</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2020 Apr;40(5):612-617.
|
||
Epub 2020 Feb 12
|
||
doi: 10.1002/pd.5654.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32003477" target="_blank">32003477</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28283827">Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Erger F,
|
||
Brüchle NO,
|
||
Gembruch U,
|
||
Zerres K</span><br />
|
||
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
|
||
2017 Apr;295(4):897-906.
|
||
Epub 2017 Mar 10
|
||
doi: 10.1007/s00404-017-4336-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28283827" target="_blank">28283827</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25182137">Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barisic I,
|
||
Boban L,
|
||
Loane M,
|
||
Garne E,
|
||
Wellesley D,
|
||
Calzolari E,
|
||
Dolk H,
|
||
Addor MC,
|
||
Bergman JE,
|
||
Braz P,
|
||
Draper ES,
|
||
Haeusler M,
|
||
Khoshnood B,
|
||
Klungsoyr K,
|
||
Pierini A,
|
||
Queisser-Luft A,
|
||
Rankin J,
|
||
Rissmann A,
|
||
Verellen-Dumoulin C</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2015 Jun;23(6):746-52.
|
||
Epub 2014 Sep 3
|
||
doi: 10.1038/ejhg.2014.174.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25182137" target="_blank">25182137</a><a href="/pmc/articles/PMC4795048" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(meckel%20syndrome%2C%20type%206)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (3)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21368913">Clinical utility gene card for: Meckel syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salonen R,
|
||
Kestilä M,
|
||
Bergmann C</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2011 Jul;19(7)
|
||
Epub 2011 Feb 2
|
||
doi: 10.1038/ejhg.2010.255.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21368913" target="_blank">21368913</a><a href="/pmc/articles/PMC3137490" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32003477">Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dąbkowska S,
|
||
Kucińska-Chahwan A,
|
||
Beneturska A,
|
||
Ilnicka A,
|
||
Nowakowska B,
|
||
Panek G,
|
||
Roszkowski T,
|
||
Bijok J</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2020 Apr;40(5):612-617.
|
||
Epub 2020 Feb 12
|
||
doi: 10.1002/pd.5654.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32003477" target="_blank">32003477</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31411728">Meckel syndrome: Clinical and mutation profile in six fetuses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Radhakrishnan P,
|
||
Nayak SS,
|
||
Shukla A,
|
||
Lindstrand A,
|
||
Girisha KM</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2019 Dec;96(6):560-565.
|
||
Epub 2019 Aug 21
|
||
doi: 10.1111/cge.13623.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31411728" target="_blank">31411728</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27208211">Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roosing S,
|
||
Romani M,
|
||
Isrie M,
|
||
Rosti RO,
|
||
Micalizzi A,
|
||
Musaev D,
|
||
Mazza T,
|
||
Al-Gazali L,
|
||
Altunoglu U,
|
||
Boltshauser E,
|
||
D'Arrigo S,
|
||
De Keersmaecker B,
|
||
Kayserili H,
|
||
Brandenberger S,
|
||
Kraoua I,
|
||
Mark PR,
|
||
McKanna T,
|
||
Van Keirsbilck J,
|
||
Moerman P,
|
||
Poretti A,
|
||
Puri R,
|
||
Van Esch H,
|
||
Gleeson JG,
|
||
Valente EM</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2016 Sep;53(9):608-15.
|
||
Epub 2016 May 6
|
||
doi: 10.1136/jmedgenet-2016-103832.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27208211" target="_blank">27208211</a><a href="/pmc/articles/PMC5013089" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26260382">Hepatorenal fibrocystic diseases in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park E,
|
||
Lee JM,
|
||
Ahn YH,
|
||
Kang HG,
|
||
Ha II,
|
||
Lee JH,
|
||
Park YS,
|
||
Kim NK,
|
||
Park WY,
|
||
Cheong HI</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2016 Jan;31(1):113-9.
|
||
Epub 2015 Aug 11
|
||
doi: 10.1007/s00467-015-3185-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26260382" target="_blank">26260382</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26035863">The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abdelhamed ZA,
|
||
Natarajan S,
|
||
Wheway G,
|
||
Inglehearn CF,
|
||
Toomes C,
|
||
Johnson CA,
|
||
Jagger DJ</span><br />
|
||
<span class="medgenPMjournal">Dis Model Mech</span>
|
||
2015 Jun;8(6):527-41.
|
||
Epub 2015 Apr 7
|
||
doi: 10.1242/dmm.019083.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26035863" target="_blank">26035863</a><a href="/pmc/articles/PMC4457033" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Meckel%20syndrome%2C%20type%206%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 (9)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31787158">Polydactyly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Society for Maternal-Fetal Medicine,
|
||
Rac MWF,
|
||
McKinney J,
|
||
Gandhi M</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2019 Dec;221(6):B13-B15.
|
||
doi: 10.1016/j.ajog.2019.09.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31787158" target="_blank">31787158</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31787157">Congenital talipes equinovarus (clubfoot).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Society for Maternal-Fetal Medicine,
|
||
McKinney J,
|
||
Rac MWF,
|
||
Gandhi M</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2019 Dec;221(6):B10-B12.
|
||
doi: 10.1016/j.ajog.2019.09.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31787157" target="_blank">31787157</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28593008">Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khurana S,
|
||
Saini V,
|
||
Wadhwa V,
|
||
Kaur H</span><br />
|
||
<span class="medgenPMjournal">J Ultrasound</span>
|
||
2017 Jun;20(2):167-170.
|
||
Epub 2017 Jan 4
|
||
doi: 10.1007/s40477-016-0231-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28593008" target="_blank">28593008</a><a href="/pmc/articles/PMC5440330" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22134259">Acute cranial decompression in Meckel-Gruber syndrome and slit-ventricle syndrome with craniocephalic disproportion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moses M,
|
||
Ranger A,
|
||
Yazdani A</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2011 Nov;22(6):2288-91.
|
||
doi: 10.1097/SCS.0b013e318232a5d0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22134259" target="_blank">22134259</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21462283">A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shaheen R,
|
||
Faqeih E,
|
||
Seidahmed MZ,
|
||
Sunker A,
|
||
Alali FE,
|
||
AlQahtani K,
|
||
Alkuraya FS</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2011 Jun;32(6):573-8.
|
||
Epub 2011 May 5
|
||
doi: 10.1002/humu.21507.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21462283" target="_blank">21462283</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Meckel%20syndrome%2C%20type%206%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 (17)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38459147">Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Junior JHMF,
|
||
Junior SP,
|
||
Pustilnik HN,
|
||
de Almeida Leão L,
|
||
da Paz MGDS,
|
||
Araujo TB,
|
||
de Deus FOG,
|
||
Alcântara T,
|
||
Dourado JC,
|
||
de Avellar LM</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2024 Jul;40(7):2161-2168.
|
||
Epub 2024 Mar 9
|
||
doi: 10.1007/s00381-024-06346-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38459147" target="_blank">38459147</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33168220">Dandy-Walker Malformation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Society for Maternal-Fetal Medicine (SMFM),
|
||
Monteagudo A</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2020 Dec;223(6):B38-B41.
|
||
Epub 2020 Nov 7
|
||
doi: 10.1016/j.ajog.2020.08.184.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33168220" target="_blank">33168220</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31787158">Polydactyly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Society for Maternal-Fetal Medicine,
|
||
Rac MWF,
|
||
McKinney J,
|
||
Gandhi M</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2019 Dec;221(6):B13-B15.
|
||
doi: 10.1016/j.ajog.2019.09.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31787158" target="_blank">31787158</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28593008">Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khurana S,
|
||
Saini V,
|
||
Wadhwa V,
|
||
Kaur H</span><br />
|
||
<span class="medgenPMjournal">J Ultrasound</span>
|
||
2017 Jun;20(2):167-170.
|
||
Epub 2017 Jan 4
|
||
doi: 10.1007/s40477-016-0231-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28593008" target="_blank">28593008</a><a href="/pmc/articles/PMC5440330" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26260382">Hepatorenal fibrocystic diseases in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park E,
|
||
Lee JM,
|
||
Ahn YH,
|
||
Kang HG,
|
||
Ha II,
|
||
Lee JH,
|
||
Park YS,
|
||
Kim NK,
|
||
Park WY,
|
||
Cheong HI</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2016 Jan;31(1):113-9.
|
||
Epub 2015 Aug 11
|
||
doi: 10.1007/s00467-015-3185-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26260382" target="_blank">26260382</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Meckel%20syndrome%2C%20type%206%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36310336">Prenatal ultrasound in fetuses with polycystic kidney appearance - expanding the diagnostic algorithm.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simonini C,
|
||
Fröschen EM,
|
||
Nadal J,
|
||
Strizek B,
|
||
Berg C,
|
||
Geipel A,
|
||
Gembruch U</span><br />
|
||
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
|
||
2023 Oct;308(4):1287-1300.
|
||
Epub 2022 Oct 31
|
||
doi: 10.1007/s00404-022-06814-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36310336" target="_blank">36310336</a><a href="/pmc/articles/PMC10435620" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28283827">Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Erger F,
|
||
Brüchle NO,
|
||
Gembruch U,
|
||
Zerres K</span><br />
|
||
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
|
||
2017 Apr;295(4):897-906.
|
||
Epub 2017 Mar 10
|
||
doi: 10.1007/s00404-017-4336-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28283827" target="_blank">28283827</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26260382">Hepatorenal fibrocystic diseases in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park E,
|
||
Lee JM,
|
||
Ahn YH,
|
||
Kang HG,
|
||
Ha II,
|
||
Lee JH,
|
||
Park YS,
|
||
Kim NK,
|
||
Park WY,
|
||
Cheong HI</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2016 Jan;31(1):113-9.
|
||
Epub 2015 Aug 11
|
||
doi: 10.1007/s00467-015-3185-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26260382" target="_blank">26260382</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25182137">Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barisic I,
|
||
Boban L,
|
||
Loane M,
|
||
Garne E,
|
||
Wellesley D,
|
||
Calzolari E,
|
||
Dolk H,
|
||
Addor MC,
|
||
Bergman JE,
|
||
Braz P,
|
||
Draper ES,
|
||
Haeusler M,
|
||
Khoshnood B,
|
||
Klungsoyr K,
|
||
Pierini A,
|
||
Queisser-Luft A,
|
||
Rankin J,
|
||
Rissmann A,
|
||
Verellen-Dumoulin C</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2015 Jun;23(6):746-52.
|
||
Epub 2014 Sep 3
|
||
doi: 10.1038/ejhg.2014.174.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25182137" target="_blank">25182137</a><a href="/pmc/articles/PMC4795048" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21462283">A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shaheen R,
|
||
Faqeih E,
|
||
Seidahmed MZ,
|
||
Sunker A,
|
||
Alali FE,
|
||
AlQahtani K,
|
||
Alkuraya FS</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2011 Jun;32(6):573-8.
|
||
Epub 2011 May 5
|
||
doi: 10.1002/humu.21507.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21462283" target="_blank">21462283</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Meckel%20syndrome%2C%20type%206%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 class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38459147">Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Junior JHMF,
|
||
Junior SP,
|
||
Pustilnik HN,
|
||
de Almeida Leão L,
|
||
da Paz MGDS,
|
||
Araujo TB,
|
||
de Deus FOG,
|
||
Alcântara T,
|
||
Dourado JC,
|
||
de Avellar LM</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2024 Jul;40(7):2161-2168.
|
||
Epub 2024 Mar 9
|
||
doi: 10.1007/s00381-024-06346-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38459147" target="_blank">38459147</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Meckel%20syndrome%2C%20type%206%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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</div>
|
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|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2676790%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (47)</a></li>
|
||
<li><a href="/gtr/tests?term=C2676790%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (55)</a></li>
|
||
<li><a href="/gtr/tests?term=C2676790%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (11)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2676790%5bDISCUI%5d" target="_blank">See all (61)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=612284" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Meckel%20syndrome,%20type%206" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(meckel%20syndrome%2C%20type%206)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov//21368913/">EuroGenetest, 2011</a><div>Clinical utility gene card for: Meckel syndrome.</div></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb57bf84f3725e59544f49">Meckel syndrome, type 6</a>
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