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<!--
|
||
UID=87487
|
||
ConceptID=C0344479
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Spinal dysraphism</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87487</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.">C0344479</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Myelodysplasia, Spinal Cord; Myelodysplasias, Spinal Cord; Spinal Cord Myelodysplasia; Spinal Cord Myelodysplasias</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Myelodysplasia of spinal cord (253124001); Spinal dysraphism (249491000119100); Structural developmental anomalies of neurenteric canal (249491000119100)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0010301">HP:0010301</a></td></tr>
|
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</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_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">A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<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>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0344479[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=87487">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=87487" ref="ncbi_uid=87487">V</a></span></span><span class="TLline">Spinal dysraphism</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892343" ref="tree=MeSH" title="MedGen record for Morphological central nervous system abnormality">Morphological central nervous system abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1620065" ref="tree=MeSH" title="MedGen record for Abnormal neural tube morphology">Abnormal neural tube morphology</a></span><ul><li><span class="TLline"><a href="/medgen/18009" ref="tree=MeSH" title="MedGen record for Neural tube defect">Neural tube defect</a></span><ul><li><span class="matched_ds">Spinal dysraphism</span><ul><li><span class="TLline"><a href="/medgen/38283" ref="tree=MeSH" title="MedGen record for Spina bifida">Spina bifida</a></span><ul><li><span class="TLline"><a href="/medgen/539959" ref="tree=MeSH" title="MedGen record for Cervical spina bifida">Cervical spina bifida</a></span></li><li><span class="TLline"><a href="/medgen/7538" ref="tree=MeSH" title="MedGen record for Myelomeningocele">Myelomeningocele</a></span><ul><li><span class="TLline"><a href="/medgen/760704" ref="tree=MeSH" title="MedGen record for Cervical meningomyelocele">Cervical meningomyelocele</a></span></li><li><span class="TLline"><a href="/medgen/798909" ref="tree=MeSH" title="MedGen record for Cervical spina bifida cystica">Cervical spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/797823" ref="tree=MeSH" title="MedGen record for Cervicothoracic spina bifida cystica">Cervicothoracic spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/760702" ref="tree=MeSH" title="MedGen record for Lumbar meningomyelocele">Lumbar meningomyelocele</a></span></li><li><span class="TLline"><a href="/medgen/799730" ref="tree=MeSH" title="MedGen record for Lumbosacral spina bifida cystica">Lumbosacral spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/101069" ref="tree=MeSH" title="MedGen record for Sacral meningocele">Sacral meningocele</a></span></li><li><span class="TLline"><a href="/medgen/760703" ref="tree=MeSH" title="MedGen record for Thoracic meningomyelocele">Thoracic meningomyelocele</a></span></li><li><span class="TLline"><a href="/medgen/798744" ref="tree=MeSH" title="MedGen record for Thoracolumbosacral spina bifida cystica">Thoracolumbosacral spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/798852" ref="tree=MeSH" title="MedGen record for Total spina bifida cystica">Total spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/799069" ref="tree=MeSH" title="MedGen record for Upper thoracic spina bifida cystica">Upper thoracic spina bifida cystica</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/21277" ref="tree=MeSH" title="MedGen record for Spina bifida cystica">Spina bifida cystica</a></span><ul><li><span class="TLline"><a href="/medgen/447467" ref="tree=MeSH" title="MedGen record for Arnold-Chiari malformation type II">Arnold-Chiari malformation type II</a></span></li><li><span class="TLline"><a href="/medgen/1639659" ref="tree=MeSH" title="MedGen record for Myelocystocele">Myelocystocele</a></span></li><li><span class="TLline"><a href="/medgen/1806905" ref="tree=MeSH" title="MedGen record for Posterior meningocele">Posterior meningocele</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/36380" ref="tree=MeSH" title="MedGen record for Spina bifida occulta">Spina bifida occulta</a></span><ul><li><span class="TLline"><a href="/medgen/870848" ref="tree=MeSH" title="MedGen record for Spina bifida occulta at L5">Spina bifida occulta at L5</a></span></li><li><span class="TLline"><a href="/medgen/870844" ref="tree=MeSH" title="MedGen record for Spina bifida occulta at S1">Spina bifida occulta at S1</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_354620"><div><strong>Camptomelic dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354620</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:">C1861922</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Campomelic dysplasia (CD) is a skeletal dysplasia characterized by distinctive facies, Pierre Robin sequence with cleft palate, shortening and bowing of long bones, and clubfeet. Other findings include laryngotracheomalacia with respiratory compromise and ambiguous genitalia or normal female external genitalia in most individuals with a 46,XY karyotype. Many affected infants die in the neonatal period; additional findings identified in long-term survivors include short stature, cervical spine instability with cord compression, progressive scoliosis, and hearing impairment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/354620">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350960"><div><strong>Spondyloepimetaphyseal dysplasia with multiple dislocations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350960</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.">C1863732</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spondyloepimetaphyseal dysplasia with joint laxity type 2 (SEMDJL2) is characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly (summary by Min et al., 2011). For a discussion of genetic heterogeneity of SEMD with joint laxity, see SEMDJL1 (271640).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350960">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355746"><div><strong>Neural tube defects, folate-sensitive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355746</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.">C1866558</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neural tube defects have a birth incidence of approximately 1 in 1,000 in American Caucasians and are the second most common type of birth defect after congenital heart defects. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly (206500) (Detrait et al., 2005). Women with elevated plasma homocysteine, low folate, or low vitamin B12 (cobalamin) are at increased risk of having a child with a neural tube defect (O'Leary et al., 2005). Motulsky (1996) cited evidence from the Centers for Disease Control ( Anonymous, 1992) that folic acid given before and during the first 4 weeks of pregnancy can prevent 50% or more of neural tube defects. Botto et al. (1999) and Detrait et al. (2005) provided reviews of neural tube defects. De Marco et al. (2006) provided a detailed review of neurulation and the possible etiologies of neural tube defects.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355746">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_442876"><div><strong>CLOVES syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442876</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.">C2752042</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/442876">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1621146"><div><strong>Vertebral, cardiac, renal, and limb defects syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1621146</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.">C4540004</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital NAD deficiency disorder (CNDD) is a multisystem condition in which cardiac, renal, vertebral, and limb anomalies are common, mimicking the clinical features described in VACTERL association. Congenital heart defects can include left-sided heart lesions, right-sided heart lesions, or both. Almost all surviving individuals have short stature, many with disproportionately shortened limbs. Vertebral anomalies, including hemivertebrae and vertebral fusion, occur frequently, often with rib anomalies. Renal anomalies may be severe, including dysplasia/hypoplasia and renal agenesis. Developmental delay / intellectual disability has been reported in more than half of affected individuals, although some affected individuals have had normal development, and some individuals succumbed to their congenital anomalies before developmental assessment could be performed. Other less common features may include cleft palate, eye anomalies, sensorineural hearing loss, tracheoesophageal fistula, polysplenia, anteriorly displaced anus, tethered spinal cord, cystic hygroma, epilepsy, hypothyroidism, and hypoparathyroidism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1621146">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_354620" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Camptomelic dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_442876" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CLOVES syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355746" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neural tube defects, folate-sensitive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350960" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepimetaphyseal dysplasia with multiple dislocations</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1621146" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertebral, cardiac, renal, and limb defects syndrome 1</a></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/31724222">EAU/ESPU guidelines on the management of neurogenic bladder in children and adolescent part I diagnostics and conservative treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stein R,
|
||
Bogaert G,
|
||
Dogan HS,
|
||
Hoen L,
|
||
Kocvara R,
|
||
Nijman RJM,
|
||
Quadackers JSLT,
|
||
Rawashdeh YF,
|
||
Silay MS,
|
||
Tekgul S,
|
||
Radmayr C</span><br />
|
||
<span class="medgenPMjournal">Neurourol Urodyn</span>
|
||
2020 Jan;39(1):45-57.
|
||
Epub 2019 Nov 13
|
||
doi: 10.1002/nau.24211.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31724222" target="_blank">31724222</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24013324">Prenatal diagnosis of spinal dysraphism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ben-Sira L,
|
||
Garel C,
|
||
Malinger G,
|
||
Constantini S</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2013 Sep;29(9):1541-52.
|
||
Epub 2013 Sep 7
|
||
doi: 10.1007/s00381-013-2178-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24013324" target="_blank">24013324</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4875770">Occult spinal dysraphism. Diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anderson FM</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1968 Aug;73(2):163-77.
|
||
doi: 10.1016/s0022-3476(68)80065-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4875770" target="_blank">4875770</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22spinal%20dysraphism%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 (51)</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><h3 class="nl vspace"><a href="https://www.nice.org.uk/guidance/cg148" target="_blank">UK NICE Clinical guideline (CG148), Urinary incontinence in neurological disease: assessment and management, 2023</a></h3>
|
||
</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/33252095">Orthopedic guidelines for the care of people with spina bifida.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Conklin MJ,
|
||
Kishan S,
|
||
Nanayakkara CB,
|
||
Rosenfeld SR</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Rehabil Med</span>
|
||
2020;13(4):629-635.
|
||
doi: 10.3233/PRM-200750.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33252095" target="_blank">33252095</a><a href="/pmc/articles/PMC7838956" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17409793">Tethered cord syndrome: an updated review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lew SM,
|
||
Kothbauer KF</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurosurg</span>
|
||
2007;43(3):236-48.
|
||
doi: 10.1159/000098836.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17409793" target="_blank">17409793</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15851075">Terminal myelocystocele.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jaiswal AK,
|
||
Mahapatra AK</span><br />
|
||
<span class="medgenPMjournal">J Clin Neurosci</span>
|
||
2005 Apr;12(3):249-52.
|
||
doi: 10.1016/j.jocn.2004.03.038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15851075" target="_blank">15851075</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15555669">Spina bifida.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mitchell LE,
|
||
Adzick NS,
|
||
Melchionne J,
|
||
Pasquariello PS,
|
||
Sutton LN,
|
||
Whitehead AS</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2004 Nov 20-26;364(9448):1885-95.
|
||
doi: 10.1016/S0140-6736(04)17445-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15555669" target="_blank">15555669</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11129882">Spina bifida.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deshmukh SS</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
1997 Nov-Dec;64(6 Suppl):57-61.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11129882" target="_blank">11129882</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinal%20dysraphism%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 (2267)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28734746">Spina Bifida Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Phillips LA,
|
||
Burton JM,
|
||
Evans SH</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Pediatr Adolesc Health Care</span>
|
||
2017 Jul;47(7):173-177.
|
||
Epub 2017 Jul 19
|
||
doi: 10.1016/j.cppeds.2017.06.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28734746" target="_blank">28734746</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24738724">Skin dimples.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar A,
|
||
Kanojia RK,
|
||
Saili A</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2014 Jul;53(7):789-97.
|
||
Epub 2014 Apr 16
|
||
doi: 10.1111/ijd.12376.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24738724" target="_blank">24738724</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17409793">Tethered cord syndrome: an updated review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lew SM,
|
||
Kothbauer KF</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurosurg</span>
|
||
2007;43(3):236-48.
|
||
doi: 10.1159/000098836.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17409793" target="_blank">17409793</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15555669">Spina bifida.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mitchell LE,
|
||
Adzick NS,
|
||
Melchionne J,
|
||
Pasquariello PS,
|
||
Sutton LN,
|
||
Whitehead AS</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2004 Nov 20-26;364(9448):1885-95.
|
||
doi: 10.1016/S0140-6736(04)17445-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15555669" target="_blank">15555669</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15062676">Neural tube defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaufman BA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2004 Apr;51(2):389-419.
|
||
doi: 10.1016/S0031-3955(03)00207-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15062676" target="_blank">15062676</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinal%20dysraphism%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 (1805)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31370010">Fetal surgery for spina bifida.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dewan MC,
|
||
Wellons JC</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg Pediatr</span>
|
||
2019 Aug 1;24(2):105-114.
|
||
doi: 10.3171/2019.4.PEDS18383.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31370010" target="_blank">31370010</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28295633">Neural tube closure and embryonic metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamaguchi Y,
|
||
Miyazawa H,
|
||
Miura M</span><br />
|
||
<span class="medgenPMjournal">Congenit Anom (Kyoto)</span>
|
||
2017 Sep;57(5):134-137.
|
||
Epub 2017 May 31
|
||
doi: 10.1111/cga.12219.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28295633" target="_blank">28295633</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27189655">Spina bifida.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Copp AJ,
|
||
Adzick NS,
|
||
Chitty LS,
|
||
Fletcher JM,
|
||
Holmbeck GN,
|
||
Shaw GM</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
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2015 Apr 30;1:15007.
|
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|
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|
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<div class="nl"><a target="_blank" href="/pubmed/17681891">Ethics of maternal-fetal surgery.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Chervenak FA,
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<span class="medgenPMjournal">Semin Fetal Neonatal Med</span>
|
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2007 Dec;12(6):426-31.
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<span class="bold">PMID: </span><a href="/pubmed/17681891" target="_blank">17681891</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/15555669">Spina bifida.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Mitchell LE,
|
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Adzick NS,
|
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Melchionne J,
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Pasquariello PS,
|
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Sutton LN,
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<span class="medgenPMjournal">Lancet</span>
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2004 Nov 20-26;364(9448):1885-95.
|
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doi: 10.1016/S0140-6736(04)17445-X.
|
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<span class="bold">PMID: </span><a href="/pubmed/15555669" target="_blank">15555669</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinal%20dysraphism%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 (827)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38514517">Reflections upon the intrauterine repair of myelomeningocele.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Talamonti G</span><br />
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<span class="medgenPMjournal">Childs Nerv Syst</span>
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2024 May;40(5):1571-1575.
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Epub 2024 Mar 22
|
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doi: 10.1007/s00381-024-06365-0.
|
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<span class="bold">PMID: </span><a href="/pubmed/38514517" target="_blank">38514517</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/15851075">Terminal myelocystocele.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jaiswal AK,
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2005 Apr;12(3):249-52.
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doi: 10.1016/j.jocn.2004.03.038.
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<span class="bold">PMID: </span><a href="/pubmed/15851075" target="_blank">15851075</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/11129882">Spina bifida.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Deshmukh SS</span><br />
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1997 Nov-Dec;64(6 Suppl):57-61.
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<div class="nl"><a target="_blank" href="/pubmed/7620357">Lipomyelomeningocele.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sutton LN</span><br />
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<span class="medgenPMjournal">Neurosurg Clin N Am</span>
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1995 Apr;6(2):325-38.
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<span class="bold">PMID: </span><a href="/pubmed/7620357" target="_blank">7620357</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/3251213">Diastematomyelia--a 40-year experience.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gower DJ,
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Del Curling O,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinal%20dysraphism%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 (1061)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38160373">2023 updates to the spina bifida transition to adult care guidelines.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fremion E,
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Kaufman M,
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Mukherjee S,
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Murphy P,
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Smith K</span><br />
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<span class="medgenPMjournal">J Pediatr Rehabil Med</span>
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2023;16(4):583-593.
|
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doi: 10.3233/PRM-230052.
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<span class="bold">PMID: </span><a href="/pubmed/38160373" target="_blank">38160373</a><a href="/pmc/articles/PMC10789338" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/37640877">Secondary Neurulation Defect: Terminal Myelocystocele, a Biological Leviathan.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lee JY,
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Wang KC,
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Pang D</span><br />
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<span class="medgenPMjournal">Adv Tech Stand Neurosurg</span>
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2023;47:225-234.
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doi: 10.1007/978-3-031-34981-2_8.
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<span class="bold">PMID: </span><a href="/pubmed/37640877" target="_blank">37640877</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35817657">Why are pediatric urologists unable to predict renal deterioration using urodynamics? A focused narrative review of the shortcomings of the literature.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Weaver JK,
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Weiss DA,
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Aghababian A,
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Smith AL,
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Long CJ,
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Tasian GE,
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<span class="bold">PMID: </span><a href="/pubmed/35817657" target="_blank">35817657</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/19301349">Prenatal screening and diagnosis of neural tube defects.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cameron M,
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Moran P</span><br />
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<span class="medgenPMjournal">Prenat Diagn</span>
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2009 Apr;29(4):402-11.
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<span class="bold">PMID: </span><a href="/pubmed/19301349" target="_blank">19301349</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/19194999">Postnatal management and outcome for neural tube defects including spina bifida and encephalocoeles.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Thompson DN</span><br />
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<span class="medgenPMjournal">Prenat Diagn</span>
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2009 Apr;29(4):412-9.
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doi: 10.1002/pd.2199.
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<span class="bold">PMID: </span><a href="/pubmed/19194999" target="_blank">19194999</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinal%20dysraphism%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 (1008)</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/37726188">Systematic review and meta-analysis to study the outcomes of proactive versus delayed management in children with a congenital neurogenic bladder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Y,
|
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Stern N,
|
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Wang PZ,
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||
Braga LH,
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||
Dave S</span><br />
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<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2023 Dec;19(6):730-741.
|
||
Epub 2023 Sep 7
|
||
doi: 10.1016/j.jpurol.2023.08.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37726188" target="_blank">37726188</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31724222">EAU/ESPU guidelines on the management of neurogenic bladder in children and adolescent part I diagnostics and conservative treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stein R,
|
||
Bogaert G,
|
||
Dogan HS,
|
||
Hoen L,
|
||
Kocvara R,
|
||
Nijman RJM,
|
||
Quadackers JSLT,
|
||
Rawashdeh YF,
|
||
Silay MS,
|
||
Tekgul S,
|
||
Radmayr C</span><br />
|
||
<span class="medgenPMjournal">Neurourol Urodyn</span>
|
||
2020 Jan;39(1):45-57.
|
||
Epub 2019 Nov 13
|
||
doi: 10.1002/nau.24211.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31724222" target="_blank">31724222</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28847208">Gap analysis of service needs for adults with neurodevelopmental disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Burke SL,
|
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Wagner E,
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Marolda H,
|
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Quintana JE,
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Maddux M</span><br />
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<span class="medgenPMjournal">J Intellect Disabil</span>
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2019 Mar;23(1):97-116.
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Epub 2017 Aug 29
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doi: 10.1177/1744629517726209.
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||
<span class="bold">PMID: </span><a href="/pubmed/28847208" target="_blank">28847208</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27128768">Transition of care for adolescents from paediatric services to adult health services.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Campbell F,
|
||
Biggs K,
|
||
Aldiss SK,
|
||
O'Neill PM,
|
||
Clowes M,
|
||
McDonagh J,
|
||
While A,
|
||
Gibson F</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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||
2016 Apr 29;4(4):CD009794.
|
||
doi: 10.1002/14651858.CD009794.pub2.
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||
<span class="bold">PMID: </span><a href="/pubmed/27128768" target="_blank">27128768</a><a href="/pmc/articles/PMC10461324" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24612860">Physical fitness and exercise training on individuals with spina bifida: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oliveira A,
|
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Jácome C,
|
||
Marques A</span><br />
|
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<span class="medgenPMjournal">Res Dev Disabil</span>
|
||
2014 May;35(5):1119-36.
|
||
Epub 2014 Mar 4
|
||
doi: 10.1016/j.ridd.2014.02.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24612860" target="_blank">24612860</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinal%20dysraphism%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 (71)</a></div></div>
|
||
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|
||
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0344479%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
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