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<meta name="keywords" content="C1850321, beec, bladder exstrophy-epispadias-cloacal extrophy complex, disease or syndrome, eec, exstrophy-epispadias complex, oeis complex, oeis syndrome, omphalocele exstrophy imperforate anus, omphalocele exstrophy imperforate anus spinal defects complex, omphalocele, exstrophy of the bladder, imperforate anus, spinal abnormalities, omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects, omphalocele-exstrophy-imperforate anus-spinal defects, omphalocele-exstrophy-imperforate anus-spinal defects complex, 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="Carey et al. (1978) gave the name OEIS complex to a combination of defects comprising omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects. This rare complex is thought to represent the most severe end of a spectrum of birth defects, the exstrophy-epispadias sequence, which, in order of increasing severity, includes phallic separation with epispadias, pubic diastasis, exstrophy of the bladder (600057), cloacal exstrophy, and OEIS complex. Very few instances of recurrence of anomalies in this cluster have been reported." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=338020
|
||
ConceptID=C1850321
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Exstrophy-epispadias complex</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338020</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:">C1850321</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>OEIS complex; Omphalocele exstrophy imperforate anus; Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects; OMPHALOCELE-EXSTROPHY-IMPERFORATE ANUS-SPINAL DEFECTS</td></tr>
|
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<tr><td>Modes of inheritance:</td>
|
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<td>
|
||
<div class="divPopper rprt" id="moi_109109"><div><strong>Non-Mendelian inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>109109</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.">C0600599</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Genetic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that depends on genetic determinants in more than one gene.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_109109" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Non-Mendelian inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0017919" target="_blank">MONDO:0017919</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/258040" target="_blank">258040</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=322">ORPHA322</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">Carey et al. (1978) gave the name OEIS complex to a combination of defects comprising omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects. This rare complex is thought to represent the most severe end of a spectrum of birth defects, the exstrophy-epispadias sequence, which, in order of increasing severity, includes phallic separation with epispadias, pubic diastasis, exstrophy of the bladder (600057), cloacal exstrophy, and OEIS complex. Very few instances of recurrence of anomalies in this cluster have been reported. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</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_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_41839"><div><strong>Epispadias</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41839</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.">C0014588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41839">Feature record</a> | <a href="/medgen?term=%22Epispadias%22%5BClinical%20Features%5D%20OR%2041839%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42531"><div><strong>Hydronephrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42531</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.">C0020295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severe distention of the kidney with dilation of the renal pelvis and calices.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42531">Feature record</a> | <a href="/medgen?term=%22Hydronephrosis%22%5BClinical%20Features%5D%20OR%2042531%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_22640"><div><strong>Vesicovaginal fistula</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>22640</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.">C0042582</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a fistula connecting the urinary bladder to the vagina.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/22640">Feature record</a> | <a href="/medgen?term=%22Vesicovaginal%20fistula%22%5BClinical%20Features%5D%20OR%2022640%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_67446"><div><strong>Pelvic kidney</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67446</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.">C0221209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67446">Feature record</a> | <a href="/medgen?term=%22Pelvic%20kidney%22%5BClinical%20Features%5D%20OR%2067446%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488897"><div><strong>Absent scrotum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488897</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.">C0426320</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital absence of the scrotum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488897">Feature record</a> | <a href="/medgen?term=%22Absent%20scrotum%22%5BClinical%20Features%5D%20OR%20488897%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_101073"><div><strong>Hydroureter</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101073</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.">C0521620</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The distention of the ureter with urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/101073">Feature record</a> | <a href="/medgen?term=%22Hydroureter%22%5BClinical%20Features%5D%20OR%20101073%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_154237"><div><strong>Renal agenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154237</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.">C0542519</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Agenesis, that is, failure of the kidney to develop during embryogenesis and development.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154237">Feature record</a> | <a href="/medgen?term=%22Renal%20agenesis%22%5BClinical%20Features%5D%20OR%20154237%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342473"><div><strong>Labial hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342473</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.">C1850325</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342473">Feature record</a> | <a href="/medgen?term=%22Labial%20hypoplasia%22%5BClinical%20Features%5D%20OR%20342473%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342474"><div><strong>Bifid uterus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342474</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.">C1850327</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a bifid uterus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342474">Feature record</a> | <a href="/medgen?term=%22Bifid%20uterus%22%5BClinical%20Features%5D%20OR%20342474%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_346936"><div><strong>Duplicated collecting system</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346936</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.">C1858565</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346936">Feature record</a> | <a href="/medgen?term=%22Duplicated%20collecting%20system%22%5BClinical%20Features%5D%20OR%20346936%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867446"><div><strong>Ambiguous genitalia, male</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867446</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.">C4021823</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ambiguous genitalia in an individual with XY genetic gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867446">Feature record</a> | <a href="/medgen?term=%22Ambiguous%20genitalia%2C%20male%22%5BClinical%20Features%5D%20OR%20867446%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892752"><div><strong>Ambiguous genitalia, female</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892752</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.">C4025891</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ambiguous genitalia in an individual with XX genetic gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892752">Feature record</a> | <a href="/medgen?term=%22Ambiguous%20genitalia%2C%20female%22%5BClinical%20Features%5D%20OR%20892752%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1633603"><div><strong>Micropenis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1633603</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.">C4551492</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1633603">Feature record</a> | <a href="/medgen?term=%22Micropenis%22%5BClinical%20Features%5D%20OR%201633603%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3130"><div><strong>Talipes equinovarus</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=%22Talipes%20equinovarus%22%5BClinical%20Features%5D%20OR%203130%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1997"><div><strong>Anal atresia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1997</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.">C0003466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1997">Feature record</a> | <a href="/medgen?term=%22Anal%20atresia%22%5BClinical%20Features%5D%20OR%201997%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2661"><div><strong>Bladder exstrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2661</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.">C0005689</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2661">Feature record</a> | <a href="/medgen?term=%22Bladder%20exstrophy%22%5BClinical%20Features%5D%20OR%202661%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11152"><div><strong>Rectovaginal fistula</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11152</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.">C0034895</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a fistula between the vagina and the rectum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11152">Feature record</a> | <a href="/medgen?term=%22Rectovaginal%20fistula%22%5BClinical%20Features%5D%20OR%2011152%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_113153"><div><strong>Intestinal malrotation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113153</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.">C0221210</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113153">Feature record</a> | <a href="/medgen?term=%22Intestinal%20malrotation%22%5BClinical%20Features%5D%20OR%20113153%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_83377"><div><strong>Cloacal exstrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83377</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.">C0345217</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83377">Feature record</a> | <a href="/medgen?term=%22Cloacal%20exstrophy%22%5BClinical%20Features%5D%20OR%2083377%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_333160"><div><strong>Anteriorly placed anus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333160</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.">C1838705</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anterior malposition of the anus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333160">Feature record</a> | <a href="/medgen?term=%22Anteriorly%20placed%20anus%22%5BClinical%20Features%5D%20OR%20333160%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_376760"><div><strong>Duplicated colon</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376760</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.">C1850328</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376760">Feature record</a> | <a href="/medgen?term=%22Duplicated%20colon%22%5BClinical%20Features%5D%20OR%20376760%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2065"><div><strong>Chiari malformation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2065</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.">C0003803</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2065">Feature record</a> | <a href="/medgen?term=%22Chiari%20malformation%22%5BClinical%20Features%5D%20OR%202065%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_7538"><div><strong>Myelomeningocele</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7538</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.">C0025312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7538">Feature record</a> | <a href="/medgen?term=%22Myelomeningocele%22%5BClinical%20Features%5D%20OR%207538%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_36387"><div><strong>Tethered cord</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>36387</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.">C0080218</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/36387">Feature record</a> | <a href="/medgen?term=%22Tethered%20cord%22%5BClinical%20Features%5D%20OR%2036387%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9258"><div><strong>Congenital hip dislocation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9258</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.">C0019555</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/9258">Feature record</a> | <a href="/medgen?term=%22Congenital%20hip%20dislocation%22%5BClinical%20Features%5D%20OR%209258%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82720"><div><strong>Hemivertebrae</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82720</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.">C0265677</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of one half of the vertebral body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82720">Feature record</a> | <a href="/medgen?term=%22Hemivertebrae%22%5BClinical%20Features%5D%20OR%2082720%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_83373"><div><strong>Absence of the sacrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83373</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.">C0344490</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence (aplasia) of the sacrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83373">Feature record</a> | <a href="/medgen?term=%22Absence%20of%20the%20sacrum%22%5BClinical%20Features%5D%20OR%2083373%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_162756"><div><strong>Congenital omphalocele</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162756</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.">C0795690</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis (230750), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by Bugge, 2010). On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, Yang et al. (1992) concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects. Omphalocele can be a feature of genetic disorders, such as Beckwith-Wiedemann syndrome (130650) and the Shprintzen-Goldberg syndrome (182210).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162756">Feature record</a> | <a href="/medgen?term=%22Congenital%20omphalocele%22%5BClinical%20Features%5D%20OR%20162756%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326950"><div><strong>11 pairs of ribs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326950</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.">C1839731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Presence of only 11 pairs of ribs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326950">Feature record</a> | <a href="/medgen?term=%2211%20pairs%20of%20ribs%22%5BClinical%20Features%5D%20OR%20326950%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340514"><div><strong>Sacral segmentation defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340514</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.">C1850329</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340514">Feature record</a> | <a href="/medgen?term=%22Sacral%20segmentation%20defect%22%5BClinical%20Features%5D%20OR%20340514%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 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'">Talipes equinovarus</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_1997" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anal atresia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333160" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anteriorly placed anus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2661" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bladder exstrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_83377" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cloacal exstrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_376760" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Duplicated colon</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113153" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intestinal malrotation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11152" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rectovaginal fistula</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_488897" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent scrotum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892752" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ambiguous genitalia, female</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867446" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ambiguous genitalia, male</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342474" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bifid uterus</a></span></li><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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346936" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Duplicated collecting system</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41839" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epispadias</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42531" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydronephrosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_101073" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydroureter</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342473" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Labial hypoplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1633603" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micropenis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67446" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pelvic kidney</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_154237" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal agenesis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_22640" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vesicovaginal fistula</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_326950" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">11 pairs of ribs</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_83373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absence of the sacrum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9258" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital hip dislocation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_162756" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital omphalocele</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82720" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemivertebrae</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sacral segmentation defect</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_2065" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chiari malformation</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_7538" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myelomeningocele</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_36387" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tethered cord</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><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=338020" target="_blank" href="/omim/258040">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=338020" ref="ncbi_uid=338020">V</a></span></span><span class="TLline">Exstrophy-epispadias complex</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="matched_ds">Exstrophy-epispadias complex</span><ul><li><span class="TLline"><a href="/medgen/2661" ref="tree=MeSH" title="MedGen record for Bladder exstrophy">Bladder exstrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1740753" ref="tree=MeSH" title="MedGen record for Supravesical Fissure of Urinary Bladder">Supravesical Fissure of Urinary Bladder</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/83377" ref="tree=MeSH" title="MedGen record for Cloacal exstrophy">Cloacal exstrophy</a></span></li><li><span class="TLline"><a href="/medgen/41839" ref="tree=MeSH" title="MedGen record for Epispadias">Epispadias</a></span><ul><li><span class="TLline"><a href="/medgen/889299" ref="tree=MeSH" title="MedGen record for Continent Epispadias">Continent Epispadias</a></span></li><li><span class="TLline"><a href="/medgen/647750" ref="tree=MeSH" title="MedGen record for Epispadias, male">Epispadias, male</a></span></li><li><span class="TLline"><a href="/medgen/881685" ref="tree=MeSH" title="MedGen record for Incontinent Epispadias">Incontinent Epispadias</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=12489&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Exstrophy-epispadias complex</span> in Orphanet.</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/34911128">Genetic Counseling for Bladder Exstrophy-Epispadias Complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reutter H,
|
||
Holmdahl G</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr Surg</span>
|
||
2021 Dec;31(6):468-471.
|
||
Epub 2021 Dec 15
|
||
doi: 10.1055/s-0041-1740336.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34911128" target="_blank">34911128</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31115647">Isolated bladder exstrophy in prenatal diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mallmann MR,
|
||
Mack-Detlefsen B,
|
||
Reutter H,
|
||
Pohle R,
|
||
Gottschalk I,
|
||
Geipel A,
|
||
Berg C,
|
||
Boemers TM,
|
||
Gembruch U</span><br />
|
||
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
|
||
2019 Aug;300(2):355-363.
|
||
Epub 2019 May 21
|
||
doi: 10.1007/s00404-019-05193-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31115647" target="_blank">31115647</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21453851">Diagnosis and management of epispadias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frimberger D</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Surg</span>
|
||
2011 May;20(2):85-90.
|
||
doi: 10.1053/j.sempedsurg.2011.01.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21453851" target="_blank">21453851</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22exstrophy-epispadias%20complex%22%5Btiab%3A~0%5D)%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 (21)</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/37410166">Ensuring our exstrophy-epispadias complex patients and families thrive.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haddad E,
|
||
Hayes LC,
|
||
Price D,
|
||
Vallery CG,
|
||
Somers M,
|
||
Borer JG</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2024 Feb;39(2):371-382.
|
||
Epub 2023 Jul 6
|
||
doi: 10.1007/s00467-023-06049-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37410166" target="_blank">37410166</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34911128">Genetic Counseling for Bladder Exstrophy-Epispadias Complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reutter H,
|
||
Holmdahl G</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr Surg</span>
|
||
2021 Dec;31(6):468-471.
|
||
Epub 2021 Dec 15
|
||
doi: 10.1055/s-0041-1740336.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34911128" target="_blank">34911128</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30628148">22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beaman GM,
|
||
Woolf AS,
|
||
Cervellione RM,
|
||
Keene D,
|
||
Mushtaq I,
|
||
Urquhart JE,
|
||
Stuart HM,
|
||
Newman WG</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2019 Mar;179(3):404-409.
|
||
Epub 2019 Jan 9
|
||
doi: 10.1002/ajmg.a.61032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30628148" target="_blank">30628148</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28986224">Autophagy, Apoptosis, and Cell Proliferation in Exstrophy-Epispadias Complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shabaninia M,
|
||
Tourchi A,
|
||
Di Carlo H,
|
||
Gearhart JP</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
2018 Jan;111:157-161.
|
||
Epub 2017 Oct 3
|
||
doi: 10.1016/j.urology.2017.09.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28986224" target="_blank">28986224</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18420001">The exstrophy-epispadias complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eeg KR,
|
||
Khoury AE</span><br />
|
||
<span class="medgenPMjournal">Curr Urol Rep</span>
|
||
2008 Mar;9(2):158-64.
|
||
doi: 10.1007/s11934-008-0028-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18420001" target="_blank">18420001</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exstrophy-epispadias%20complex%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 (179)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36704969">Prenatal diagnosis of unusual variant of exstrophy-epispadias complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vinit N,
|
||
Glénisson M,
|
||
Chalouhi G,
|
||
Salomon LJ,
|
||
Millischer-Bellaiche AE,
|
||
Beaudoin S,
|
||
Blanc T</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2023 Jul;62(1):155-156.
|
||
Epub 2023 Jun 4
|
||
doi: 10.1002/uog.26166.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36704969" target="_blank">36704969</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30628148">22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beaman GM,
|
||
Woolf AS,
|
||
Cervellione RM,
|
||
Keene D,
|
||
Mushtaq I,
|
||
Urquhart JE,
|
||
Stuart HM,
|
||
Newman WG</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2019 Mar;179(3):404-409.
|
||
Epub 2019 Jan 9
|
||
doi: 10.1002/ajmg.a.61032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30628148" target="_blank">30628148</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19878548">The exstrophy-epispadias complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ebert AK,
|
||
Reutter H,
|
||
Ludwig M,
|
||
Rösch WH</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2009 Oct 30;4:23.
|
||
doi: 10.1186/1750-1172-4-23.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19878548" target="_blank">19878548</a><a href="/pmc/articles/PMC2777855" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18420001">The exstrophy-epispadias complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eeg KR,
|
||
Khoury AE</span><br />
|
||
<span class="medgenPMjournal">Curr Urol Rep</span>
|
||
2008 Mar;9(2):158-64.
|
||
doi: 10.1007/s11934-008-0028-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18420001" target="_blank">18420001</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4610852">Surgical embryology of the exstrophy-epispadias complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ambrose SS,
|
||
O'Brien DP 3rd</span><br />
|
||
<span class="medgenPMjournal">Surg Clin North Am</span>
|
||
1974 Dec;54(6):1379-90.
|
||
doi: 10.1016/s0039-6109(16)40493-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4610852" target="_blank">4610852</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exstrophy-epispadias%20complex%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 (83)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37120367">Prevalence of opioid and benzodiazepine use in adult patients with the exstrophy-epispadias complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haney NM,
|
||
Li O,
|
||
Agrawal P,
|
||
Kohn TP,
|
||
Crigger C,
|
||
Sholklapper T,
|
||
DiCarlo H,
|
||
Gearhart JP</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2023 Oct;19(5):562.e1-562.e8.
|
||
Epub 2023 Apr 5
|
||
doi: 10.1016/j.jpurol.2023.03.031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37120367" target="_blank">37120367</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33844426">Complication profile of augmentation cystoplasty in contemporary paediatric urology: a 20-year review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taghavi K,
|
||
O'Hagan LA,
|
||
Bortagaray J,
|
||
Bouty A,
|
||
M Hutson J,
|
||
O'Brien M</span><br />
|
||
<span class="medgenPMjournal">ANZ J Surg</span>
|
||
2021 May;91(5):1005-1010.
|
||
Epub 2021 Apr 12
|
||
doi: 10.1111/ans.16736.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33844426" target="_blank">33844426</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28721463">Exstrophy Bladder - Reconstruction or Diversion for the Underprivileged.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarin YK,
|
||
Sekhon V</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2017 Sep;84(9):715-720.
|
||
Epub 2017 Jul 18
|
||
doi: 10.1007/s12098-017-2419-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28721463" target="_blank">28721463</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19013414">Complications of surgical reconstruction of the exstrophy-epispadias complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hernandez DJ,
|
||
Purves T,
|
||
Gearhart JP</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2008 Dec;4(6):460-6.
|
||
Epub 2008 Apr 21
|
||
doi: 10.1016/j.jpurol.2008.02.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19013414" target="_blank">19013414</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11973765">The management of urinary incontinence in the exstrophy complex, posterior urethral valves, and infrasphincteric ureters.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilcox DT</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Surg</span>
|
||
2002 May;11(2):128-33.
|
||
doi: 10.1053/spsu.2002.31809.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11973765" target="_blank">11973765</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exstrophy-epispadias%20complex%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 (51)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38821732">Bladder exstrophy-epispadias complex: The effect of urotherapy on incontinence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Geen FJ,
|
||
Nieuwhof-Leppink AJ,
|
||
Wortel RC,
|
||
de Kort LMO</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2024 Aug;20(4):645.e1-645.e5.
|
||
Epub 2024 May 22
|
||
doi: 10.1016/j.jpurol.2024.05.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38821732" target="_blank">38821732</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25200913">Bladder exstrophy-epispadias complex and triple-X syndrome: incidental finding or causality?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramaekers P,
|
||
Loeys B,
|
||
von Lowtzow C,
|
||
Reutter H,
|
||
Leroy Y,
|
||
Colpaert C,
|
||
Blaumeiser B,
|
||
Janssens K,
|
||
Parizel M,
|
||
Jacquemyn Y</span><br />
|
||
<span class="medgenPMjournal">Birth Defects Res A Clin Mol Teratol</span>
|
||
2014 Oct;100(10):797-800.
|
||
Epub 2014 Sep 8
|
||
doi: 10.1002/bdra.23299.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25200913" target="_blank">25200913</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19878548">The exstrophy-epispadias complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ebert AK,
|
||
Reutter H,
|
||
Ludwig M,
|
||
Rösch WH</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2009 Oct 30;4:23.
|
||
doi: 10.1186/1750-1172-4-23.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19878548" target="_blank">19878548</a><a href="/pmc/articles/PMC2777855" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10984999">Management of bladder exstrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chandrasekharam VV,
|
||
Bajpai M</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2000 Aug;67(8):579-81.
|
||
doi: 10.1007/BF02758484.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10984999" target="_blank">10984999</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9258206">Urolithiasis in the exstrophy-epispadias complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silver RI,
|
||
Gros DA,
|
||
Jeffs RD,
|
||
Gearhart JP</span><br />
|
||
<span class="medgenPMjournal">J Urol</span>
|
||
1997 Sep;158(3 Pt 2):1322-6.
|
||
doi: 10.1097/00005392-199709000-00175.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9258206" target="_blank">9258206</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exstrophy-epispadias%20complex%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 (96)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38441774">Innervation pattern of the unclosed detrusor muscle in classic bladder exstrophy: a study of patients with urothelial overexpression of nerve growth factor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Promm M,
|
||
Otto W,
|
||
Götz S,
|
||
Burger M,
|
||
Müller K,
|
||
Rubenwolf P,
|
||
Neuhuber WL,
|
||
Rösch WH</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2024 Mar 5;40(1):69.
|
||
doi: 10.1007/s00383-024-05649-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38441774" target="_blank">38441774</a><a href="/pmc/articles/PMC10914852" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36449491">Dextranomer Endoscopic Injections for the Treatment of Urinary Incontinence in Bladder Exstrophy-epispadias Complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fiorenza V,
|
||
Hukkinen M,
|
||
Alova I,
|
||
Clermidi P,
|
||
Broch A,
|
||
Botto N,
|
||
Blanc T,
|
||
Lottmann HB</span><br />
|
||
<span class="medgenPMjournal">J Urol</span>
|
||
2023 Mar;209(3):591-599.
|
||
Epub 2022 Nov 30
|
||
doi: 10.1097/JU.0000000000003086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36449491" target="_blank">36449491</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35277349">Sexual health outcomes after penile reconstruction in the exstrophy-epispadias complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harris TGW,
|
||
Khandge P,
|
||
Wu WJ,
|
||
Leto Barone AA,
|
||
Manyevitch R,
|
||
Sholklapper T,
|
||
Bivalacqua TJ,
|
||
Burnett AL,
|
||
Redett RJ 3rd,
|
||
Gearhart JP</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2022 Dec;18(6):747-755.
|
||
Epub 2022 Feb 23
|
||
doi: 10.1016/j.jpurol.2022.02.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35277349" target="_blank">35277349</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32161399">Long-term sexual outcomes in patients with exstrophy-epispadias complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sinatti C,
|
||
Waterschoot M,
|
||
Roth J,
|
||
Van Laecke E,
|
||
Hoebeke P,
|
||
Spinoit AF</span><br />
|
||
<span class="medgenPMjournal">Int J Impot Res</span>
|
||
2021 Mar;33(2):164-169.
|
||
Epub 2020 Mar 11
|
||
doi: 10.1038/s41443-020-0248-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32161399" target="_blank">32161399</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26316280">Pathogenesis of bladder exstrophy: A new hypothesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">K V SK,
|
||
Mammen A,
|
||
Varma KK</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2015 Dec;11(6):314-8.
|
||
Epub 2015 Jul 30
|
||
doi: 10.1016/j.jpurol.2015.05.030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26316280" target="_blank">26316280</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exstrophy-epispadias%20complex%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 (70)</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/34563362">Long-term active problems in patients with cloacal exstrophy: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Musleh L,
|
||
Privitera L,
|
||
Paraboschi I,
|
||
Polymeropoulos A,
|
||
Mushtaq I,
|
||
Giuliani S</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2022 Mar;57(3):339-347.
|
||
Epub 2021 Sep 4
|
||
doi: 10.1016/j.jpedsurg.2021.08.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34563362" target="_blank">34563362</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33223423">Substitution Phalloplasty in Patients With Bladder Exstrophy-Epispadias Complex: A Systematic Review of Techniques, Complications and Outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berrettini A,
|
||
Sampogna G,
|
||
Gnech M,
|
||
Montanari E,
|
||
Manzoni G,
|
||
Di Grazia M,
|
||
Castagnetti M</span><br />
|
||
<span class="medgenPMjournal">J Sex Med</span>
|
||
2021 Feb;18(2):400-409.
|
||
Epub 2020 Nov 20
|
||
doi: 10.1016/j.jsxm.2020.10.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33223423" target="_blank">33223423</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30725391">Health-related quality of life among children, adolescents, and adults with bladder exstrophy-epispadias complex: a systematic review of the literature and recommendations for future research.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dellenmark-Blom M,
|
||
Sjöström S,
|
||
Abrahamsson K,
|
||
Holmdahl G</span><br />
|
||
<span class="medgenPMjournal">Qual Life Res</span>
|
||
2019 Jun;28(6):1389-1412.
|
||
Epub 2019 Feb 6
|
||
doi: 10.1007/s11136-019-02119-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30725391" target="_blank">30725391</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exstrophy-epispadias%20complex%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 (3)</a></div></div>
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