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<meta name="keywords" content="C0344490, absence of the sacrum, absent sacrum, agenesis of sacrum, congenital abnormality, congenital absence of sacrum, hypoplasia of sacrum, sacral agenesis, sacrococcygeal agenesis, 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="Absence (aplasia) of the sacrum." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=83373
|
||
ConceptID=C0344490
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Absence of the sacrum</div></h1><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."><span class="highlight" style="background-color:">C0344490</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Agenesis of sacrum; Sacral agenesis</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Sacral agenesis (205425003); Congenital absence of sacrum (205425003)</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:0010305">HP:0010305</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/600145" target="_blank">600145</a></td></tr>
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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">Absence (aplasia) of the sacrum. [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 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=83373" target="_blank" href="/omim/600145">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=83373" ref="ncbi_uid=83373">V</a></span></span><span class="TLline">Absence of the sacrum</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867418" ref="tree=MeSH" title="MedGen record for Abnormality of the skeletal system">Abnormality of the skeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/868760" ref="tree=MeSH" title="MedGen record for Abnormal skeletal morphology">Abnormal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892434" ref="tree=MeSH" title="MedGen record for Abnormal axial skeleton morphology">Abnormal axial skeleton morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870153" ref="tree=MeSH" title="MedGen record for Aplasia/hypoplasia affecting bones of the axial skeleton">Aplasia/hypoplasia affecting bones of the axial skeleton</a></span><ul><li><span class="TLline"><a href="/medgen/870222" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia involving the vertebral column">Aplasia/Hypoplasia involving the vertebral column</a></span><ul><li><span class="TLline"><a href="/medgen/870223" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the sacrum">Aplasia/Hypoplasia of the sacrum</a></span><ul><li><span class="matched_ds">Absence of the sacrum</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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<div class="portlet mgSection" id="ID_112">
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||
<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>
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||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_323460"><div><strong>Currarino triad</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323460</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.">C1531773</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Currarino syndrome is an autosomal dominant form of hereditary sacral dysgenesis that classically consists of the triad of sacral malformation, presacral mass, and anorectal malformations. However, other features include neonatal-onset bowel obstruction, chronic constipation, recurrent perianal sepsis, renal/urinary tract anomalies, female internal genital anomalies, tethered spinal cord, and anterior meningocele. There is marked inter- and intrafamilial variability, and up to 33% of patients are asymptomatic (summary by Wang et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323460">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_325455"><div><strong>Sacral defect with anterior meningocele</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325455</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.">C1838568</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sacral defect with anterior meningocele (SDAM) is a form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant (Chatkupt et al., 1994). Welch and Aterman (1984) gave a population frequency of 0.14%. Caudal dysgenesis syndrome and caudal regression syndrome are broad terms that refer to a heterogeneous constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs. Approximately 15 to 25% of mothers of children with caudal dysgenesis have insulin-dependent diabetes mellitus (222100) (Lynch et al., 2000). See also Currarino syndrome (176450), a similar disorder caused by mutation in the HLXB9 gene (142994) on chromosome 7q36. Currarino syndrome classically comprises the triad of hemisacrum, anorectal malformation, and presacral mass. However, Currarino syndrome also shows phenotypic variability: Lynch et al. (2000) stated that there is variable expressivity of clinical features and that some patients with Currarino syndrome are asymptomatic. Kochling et al. (2001) found the complete triad of Currarino syndrome in only 8 of 23 patients with mutations in the HLXB9 gene, These reports suggest that some patients previously reported as having forms of sacral agenesis, including SDAM, may have had Currarino syndrome and vice versa. See also spina bifida (182940), which can be seen in some patients with sacral agenesis or caudal regression syndrome and may be etiologically related.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/325455">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336609"><div><strong>Heterotaxy, visceral, 1, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336609</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.">C1844020</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Heterotaxy Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart Defects Congenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). Reviews Obler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral Heterotaxy See also HTX2 (605376), caused by mutation in the CFC1 gene (605194) on chromosome 2q21; HTX3 (606325), which maps to chromosome 6q21; HTX4 (613751), caused by mutation in the ACVR2B gene (602730) on chromosome 3p22; HTX5 (270100), caused by mutation in the NODAL gene (601265) on chromosome 10q22; HTX6 (614779), caused by mutation in the CCDC11 gene (614759) on chromosome 18q21; HTX7 (616749), caused by mutation in the MMP21 gene (608416) on chromosome 10q26; HTX8 (617205), caused by mutation in the PKD1L1 gene (609721) on chromosome 7p12; HTX9 (618948), caused by mutation in the MNS1 gene (610766) on chromosome 15q21; HTX10 (619607), caused by mutation in the CFAP52 gene (609804) on chromosome 17p13; HTX11 (619608), caused by mutation in the CFAP45 gene (605152) on chromosome 1q23; HTX12 (619702), caused by mutation in the CIROP gene (619703) on chromosome 14q11; HTX13 (621079), caused by mutation in the DAND5 gene (609068) on chromosome 19p13; and HTX14 (621080), caused by mutation in the CIROZ gene (619700) on chromosome 1p36. Genetic Heterogeneity of Multiple Types of Congenital Heart Defects An X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (614980) is caused by mutation in the TAB2 gene (605101) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3; 614954) has been mapped to chromosome 9q31. CHTD4 (615779) is caused by mutation in the NR2F2 gene (107773) on chromosome 15q26. CHTD5 (617912) is caused by mutation in the GATA5 gene (611496) on chromosome 20q13. CHTD6 (613854) is caused by mutation in the GDF1 gene (602880) on chromosome 19p13. CHTD7 (618780) is caused by mutation in the FLT4 gene (136352) on chromosome 5q35. CHTD8 (619657) is caused by mutation in the SMAD2 gene (601366) on chromosome 18q21. CHTD9 (620294) is caused by mutation in the PLXND1 gene (604282) on chromosome 3q22.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336609">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338020"><div><strong>Exstrophy-epispadias complex</strong><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.">C1850321</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338020">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_501198"><div><strong>Heterotaxy, visceral, 5, autosomal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501198</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.">C3495537</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/501198">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816673"><div><strong>Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816673</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.">C3810343</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sacral agenesis with vertebral anomalies (SAVA) is an autosomal recessive syndrome comprising sacral agenesis, abnormal ossification of the vertebral bodies, and a persistent notochordal canal spanning the complete vertebral column (Postma et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816673">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_856010"><div><strong>Neural tube defects, susceptibility to</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>856010</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.">C3891448</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neural tube defects are the second most common type of birth defect after congenital heart defects. The 2 most common NTDs are open spina bifida, also known as spina bifida cystica (SBC) or myelomeningocele, and anencephaly (see 206500) (Detrait et al., 2005). Spina bifida occulta (SBO), a bony defect of the spine covered by normal skin, is a mild form of spina bifida that is often asymptomatic. The term 'spinal dysraphia' refers to both SBC and SBO (Botto et al., 1999; Fineman et al., 1982). The most severe neural tube defect, craniorachischisis (CRN), leaves the neural tube open from the midbrain or rostral hindbrain to the base of the spine (summary by Robinson et al., 2012). Neural tube defects represent a complex trait with multifactorial etiology encompassing both genetic and environmental components (summary by Bartsch et al., 2012 and Lei et al., 2014). An X-linked form of spina bifida has been suggested; see 301410. See also folate-sensitive neural tube defects (601634), which are caused by genes involved in folate metabolism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/856010">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_323460" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Currarino triad</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338020" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exstrophy-epispadias complex</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336609" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 1, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501198" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 5, autosomal</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_856010" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neural tube defects, susceptibility to</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816673" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325455" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sacral defect with anterior meningocele</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/36937615">Comparison of Two Treatment Modalities in Overactive Bladder: A Rapid Overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mirza AA,
|
||
Alamoudi MA,
|
||
Mirza AA,
|
||
Alsubaie MA,
|
||
Abuzenada MA</span><br />
|
||
<span class="medgenPMjournal">Med Arch</span>
|
||
2022 Dec;76(6):469-472.
|
||
doi: 10.5455/medarh.2022.76.469-472.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36937615" target="_blank">36937615</a><a href="/pmc/articles/PMC10019876" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33676018">Clinical assessment and management of Bertolotti Syndrome: a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McGrath K,
|
||
Schmidt E,
|
||
Rabah N,
|
||
Abubakr M,
|
||
Steinmetz M</span><br />
|
||
<span class="medgenPMjournal">Spine J</span>
|
||
2021 Aug;21(8):1286-1296.
|
||
Epub 2021 Mar 3
|
||
doi: 10.1016/j.spinee.2021.02.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33676018" target="_blank">33676018</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26340383">High-dose proton-based radiation therapy in the management of spine chordomas: outcomes and clinicopathological prognostic factors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rotondo RL,
|
||
Folkert W,
|
||
Liebsch NJ,
|
||
Chen YL,
|
||
Pedlow FX,
|
||
Schwab JH,
|
||
Rosenberg AE,
|
||
Nielsen GP,
|
||
Szymonifka J,
|
||
Ferreira AE,
|
||
Hornicek FJ,
|
||
DeLaney TF</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg Spine</span>
|
||
2015 Dec;23(6):788-97.
|
||
Epub 2015 Sep 4
|
||
doi: 10.3171/2015.3.SPINE14716.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26340383" target="_blank">26340383</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(absence%20of%20the%20sacrum)%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 (7)</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/31294918">Descriptive and risk factor analysis of nonsyndromic sacral agenesis: National Birth Defects Prevention Study, 1997-2011.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nalbandyan M,
|
||
Howley MM,
|
||
Cunniff CM,
|
||
Romitti PA,
|
||
Browne ML;
|
||
National Birth Defects Prevention Study</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2019 Sep;179(9):1799-1814.
|
||
Epub 2019 Jul 11
|
||
doi: 10.1002/ajmg.a.61290.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31294918" target="_blank">31294918</a><a href="/pmc/articles/PMC8926019" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17508125">Craniocervical instability in an infant with partial sacral agenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thiryayi WA,
|
||
Alakandy LM,
|
||
Leach PA,
|
||
Cowie RA</span><br />
|
||
<span class="medgenPMjournal">Acta Neurochir (Wien)</span>
|
||
2007 Jun;149(6):623-7.
|
||
Epub 2007 May 16
|
||
doi: 10.1007/s00701-007-1147-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17508125" target="_blank">17508125</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16254195">Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garcia-Barceló M,
|
||
So MT,
|
||
Lau DK,
|
||
Leon TY,
|
||
Yuan ZW,
|
||
Cai WS,
|
||
Lui VC,
|
||
Fu M,
|
||
Herbrick JA,
|
||
Gutter E,
|
||
Proud V,
|
||
Li L,
|
||
Pierre-Louis J,
|
||
Aleck K,
|
||
van Heurn E,
|
||
Belloni E,
|
||
Scherer SW,
|
||
Tam PK</span><br />
|
||
<span class="medgenPMjournal">Clin Chem</span>
|
||
2006 Jan;52(1):46-52.
|
||
Epub 2005 Oct 27
|
||
doi: 10.1373/clinchem.2005.056192.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16254195" target="_blank">16254195</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11792777">Lumbosacral agenesis: a new classification correlating spinal deformity and ambulatory potential.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guille JT,
|
||
Benevides R,
|
||
DeAlba CC,
|
||
Siriram V,
|
||
Kumar SJ</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
2002 Jan;84(1):32-8.
|
||
doi: 10.2106/00004623-200201000-00006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11792777" target="_blank">11792777</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absence%20of%20the%20sacrum%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 (4)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30075539">Urine retention as the first presentation of congenital absence of the sacrum: A case report of a rare clinical phenomenon.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu H,
|
||
Qi P,
|
||
Dai R,
|
||
Li Z,
|
||
Feng H</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2018 Aug;97(31):e11623.
|
||
doi: 10.1097/MD.0000000000011623.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30075539" target="_blank">30075539</a><a href="/pmc/articles/PMC6081139" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21892002">Prenatal diagnosis of sirenomelia in the late second trimester with three-dimensional helical computed tomography.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ono T,
|
||
Katsura D,
|
||
Tsuji S,
|
||
Yomo H,
|
||
Ishiko A,
|
||
Inoue T,
|
||
Kita N,
|
||
Takahashi K,
|
||
Murakami T</span><br />
|
||
<span class="medgenPMjournal">Tohoku J Exp Med</span>
|
||
2011 Oct;225(2):85-7.
|
||
doi: 10.1620/tjem.225.85.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21892002" target="_blank">21892002</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17508125">Craniocervical instability in an infant with partial sacral agenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thiryayi WA,
|
||
Alakandy LM,
|
||
Leach PA,
|
||
Cowie RA</span><br />
|
||
<span class="medgenPMjournal">Acta Neurochir (Wien)</span>
|
||
2007 Jun;149(6):623-7.
|
||
Epub 2007 May 16
|
||
doi: 10.1007/s00701-007-1147-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17508125" target="_blank">17508125</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16724010">A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Titomanlio L,
|
||
Giurgea I,
|
||
Baumann C,
|
||
Elmaleh M,
|
||
Sachs P,
|
||
Chalard F,
|
||
Aboura A,
|
||
Verloes A</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2006 Aug;14(8):971-4.
|
||
Epub 2006 May 17
|
||
doi: 10.1038/sj.ejhg.5201635.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16724010" target="_blank">16724010</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absence%20of%20the%20sacrum%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21892002">Prenatal diagnosis of sirenomelia in the late second trimester with three-dimensional helical computed tomography.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ono T,
|
||
Katsura D,
|
||
Tsuji S,
|
||
Yomo H,
|
||
Ishiko A,
|
||
Inoue T,
|
||
Kita N,
|
||
Takahashi K,
|
||
Murakami T</span><br />
|
||
<span class="medgenPMjournal">Tohoku J Exp Med</span>
|
||
2011 Oct;225(2):85-7.
|
||
doi: 10.1620/tjem.225.85.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21892002" target="_blank">21892002</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19853743">MNX1 (HLXB9) mutations in Currarino patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garcia-Barceló MM,
|
||
Lui VC,
|
||
So MT,
|
||
Miao X,
|
||
Leon TY,
|
||
Yuan ZW,
|
||
Ngan ES,
|
||
Ehsan T,
|
||
Chung PH,
|
||
Khong PL,
|
||
Wong KK,
|
||
Tam PK</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2009 Oct;44(10):1892-8.
|
||
doi: 10.1016/j.jpedsurg.2009.03.039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19853743" target="_blank">19853743</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17508125">Craniocervical instability in an infant with partial sacral agenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thiryayi WA,
|
||
Alakandy LM,
|
||
Leach PA,
|
||
Cowie RA</span><br />
|
||
<span class="medgenPMjournal">Acta Neurochir (Wien)</span>
|
||
2007 Jun;149(6):623-7.
|
||
Epub 2007 May 16
|
||
doi: 10.1007/s00701-007-1147-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17508125" target="_blank">17508125</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11792777">Lumbosacral agenesis: a new classification correlating spinal deformity and ambulatory potential.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guille JT,
|
||
Benevides R,
|
||
DeAlba CC,
|
||
Siriram V,
|
||
Kumar SJ</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
2002 Jan;84(1):32-8.
|
||
doi: 10.2106/00004623-200201000-00006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11792777" target="_blank">11792777</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absence%20of%20the%20sacrum%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/19853743">MNX1 (HLXB9) mutations in Currarino patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garcia-Barceló MM,
|
||
Lui VC,
|
||
So MT,
|
||
Miao X,
|
||
Leon TY,
|
||
Yuan ZW,
|
||
Ngan ES,
|
||
Ehsan T,
|
||
Chung PH,
|
||
Khong PL,
|
||
Wong KK,
|
||
Tam PK</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2009 Oct;44(10):1892-8.
|
||
doi: 10.1016/j.jpedsurg.2009.03.039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19853743" target="_blank">19853743</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16724010">A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Titomanlio L,
|
||
Giurgea I,
|
||
Baumann C,
|
||
Elmaleh M,
|
||
Sachs P,
|
||
Chalard F,
|
||
Aboura A,
|
||
Verloes A</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2006 Aug;14(8):971-4.
|
||
Epub 2006 May 17
|
||
doi: 10.1038/sj.ejhg.5201635.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16724010" target="_blank">16724010</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11792777">Lumbosacral agenesis: a new classification correlating spinal deformity and ambulatory potential.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guille JT,
|
||
Benevides R,
|
||
DeAlba CC,
|
||
Siriram V,
|
||
Kumar SJ</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
2002 Jan;84(1):32-8.
|
||
doi: 10.2106/00004623-200201000-00006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11792777" target="_blank">11792777</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9843207">A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ross AJ,
|
||
Ruiz-Perez V,
|
||
Wang Y,
|
||
Hagan DM,
|
||
Scherer S,
|
||
Lynch SA,
|
||
Lindsay S,
|
||
Custard E,
|
||
Belloni E,
|
||
Wilson DI,
|
||
Wadey R,
|
||
Goodman F,
|
||
Orstavik KH,
|
||
Monclair T,
|
||
Robson S,
|
||
Reardon W,
|
||
Burn J,
|
||
Scambler P,
|
||
Strachan T</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
1998 Dec;20(4):358-61.
|
||
doi: 10.1038/3828.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9843207" target="_blank">9843207</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absence%20of%20the%20sacrum%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Absence%20of%20the%20sacrum" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(absence%20of%20the%20sacrum)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Absence%20of%20the%20sacrum%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.nice.org.uk/guidance/cg148">NICE, 2023</a><div>UK NICE Clinical guideline (CG148), Urinary incontinence in neurological disease: assessment and management, 2023</div></li></ul></div>
|
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/sacral_defect_with_anterior_meningocele" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Absence%20of%20the%20sacrum" target="_blank">MedlinePlus</a></li></ul></div>
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<a href="/pubmed/clinical?term=Absence%20of%20the%20sacrum" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Absence%20of%20the%20sacrum%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=83373" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=83373" ref="log$=recordlinks">MeSH</a>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=83373" ref="log$=recordlinks">OMIM</a>
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<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=83373" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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