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1040 lines
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<meta name="keywords" content="C4021789, abnormal spine, abnormal vertebral column, abnormality of the backbone, abnormality of the spine, abnormality of the vertebral column, anatomical abnormality, vertebral column abnormalities, 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="Any abnormality of the vertebral column." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Abnormality of the vertebral column (Concept Id: C4021789)
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<!--
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UID=892426
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ConceptID=C4021789
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of the vertebral column</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892426</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:">C4021789</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Vertebral column abnormalities</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:0000925">HP:0000925</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">Any abnormality of the vertebral column. [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>
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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="TLline">Abnormality of the vertebral column</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><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="matched_ds">Abnormality of the vertebral column</span><ul><li><span class="TLline"><a href="/medgen/869321" ref="tree=MeSH" title="MedGen record for Abnormal curvature of the vertebral column">Abnormal curvature of the vertebral column</a></span><ul><li><span class="TLline"><a href="/medgen/867584" ref="tree=MeSH" title="MedGen record for Abnormally straight spine">Abnormally straight spine</a></span></li><li><span class="TLline"><a href="/medgen/9805" ref="tree=MeSH" title="MedGen record for Hyperlordosis">Hyperlordosis</a></span><ul><li><span class="TLline"><a href="/medgen/263149" ref="tree=MeSH" title="MedGen record for Lumbar hyperlordosis">Lumbar hyperlordosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/120496" ref="tree=MeSH" title="MedGen record for Idiopathic camptocormia">Idiopathic camptocormia</a></span></li><li><span class="TLline"><a href="/medgen/44042" ref="tree=MeSH" title="MedGen record for Kyphosis">Kyphosis</a></span><ul><li><span class="TLline"><a href="/medgen/120554" ref="tree=MeSH" title="MedGen record for Congenital kyphosis">Congenital kyphosis</a></span></li><li><span class="TLline"><a href="/medgen/19885" ref="tree=MeSH" title="MedGen record for Juvenile osteochondrosis of spine">Juvenile osteochondrosis of spine</a></span></li><li><span class="TLline"><a href="/medgen/154361" ref="tree=MeSH" title="MedGen record for Kyphoscoliosis">Kyphoscoliosis</a></span></li><li><span class="TLline"><a href="/medgen/154362" ref="tree=MeSH" title="MedGen record for Kyphosis of thoracic spine">Kyphosis of thoracic spine</a></span></li><li><span class="TLline"><a href="/medgen/155430" ref="tree=MeSH" title="MedGen record for Lumbar Spine Kyphosis">Lumbar Spine Kyphosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1841600" ref="tree=MeSH" title="MedGen record for Lumbar hypolordosis">Lumbar hypolordosis</a></span></li><li><span class="TLline"><a href="/medgen/11348" ref="tree=MeSH" title="MedGen record for Scoliosis">Scoliosis</a></span><ul><li><span class="TLline"><a href="/medgen/473076" ref="tree=MeSH" title="MedGen record for Compensatory scoliosis">Compensatory scoliosis</a></span></li><li><span class="TLline"><a href="/medgen/347356" ref="tree=MeSH" title="MedGen record for Progressive congenital scoliosis">Progressive congenital scoliosis</a></span></li><li><span class="TLline"><a href="/medgen/196671" ref="tree=MeSH" title="MedGen record for Thoracolumbar scoliosis">Thoracolumbar scoliosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/331906" ref="tree=MeSH" title="MedGen record for Thoracic lordosis">Thoracic lordosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870792" ref="tree=MeSH" title="MedGen record for Abnormal intervertebral disk morphology">Abnormal intervertebral disk morphology</a></span><ul><li><span class="TLline"><a href="/medgen/3866" ref="tree=MeSH" title="MedGen record for Diskitis">Diskitis</a></span></li><li><span class="TLline"><a href="/medgen/318661" ref="tree=MeSH" title="MedGen record for Herniation of intervertebral nuclei">Herniation of intervertebral nuclei</a></span></li><li><span class="TLline"><a href="/medgen/868122" ref="tree=MeSH" title="MedGen record for Increased intervertebral space">Increased intervertebral space</a></span></li><li><span class="TLline"><a href="/medgen/102357" ref="tree=MeSH" title="MedGen record for Intervertebral disk degeneration">Intervertebral disk degeneration</a></span><ul><li><span class="TLline"><a href="/medgen/96081" ref="tree=MeSH" title="MedGen record for Cervical disk degenerative disorder">Cervical disk degenerative disorder</a></span></li><li><span class="TLline"><a href="/medgen/75530" ref="tree=MeSH" title="MedGen record for Degeneration of lumbar intervertebral disc">Degeneration of lumbar intervertebral disc</a></span></li><li><span class="TLline"><a href="/medgen/120491" ref="tree=MeSH" title="MedGen record for Thoracic disk degenerative disorder">Thoracic disk degenerative disorder</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78101" ref="tree=MeSH" title="MedGen record for Intervertebral space narrowing">Intervertebral space narrowing</a></span><ul><li><span class="TLline"><a href="/medgen/373385" ref="tree=MeSH" title="MedGen record for Progressive intervertebral space narrowing">Progressive intervertebral space narrowing</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/867602" ref="tree=MeSH" title="MedGen record for Abnormal lumbar spine morphology">Abnormal lumbar spine morphology</a></span><ul><li><span class="TLline"><a href="/medgen/75499" ref="tree=MeSH" title="MedGen record for Fractured lumbar vertebra">Fractured lumbar vertebra</a></span><ul><li><span class="TLline"><a href="/medgen/1731474" ref="tree=MeSH" title="MedGen record for Compression-fractured lumbar vertebra">Compression-fractured lumbar vertebra</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/336792" ref="tree=MeSH" title="MedGen record for Lumbar kyphosis">Lumbar kyphosis</a></span><ul><li><span class="TLline"><a href="/medgen/371940" ref="tree=MeSH" title="MedGen record for Lumbar kyphoscoliosis">Lumbar kyphoscoliosis</a></span></li><li><span class="TLline"><a href="/medgen/354980" ref="tree=MeSH" title="MedGen record for Lumbar kyphosis in infancy">Lumbar kyphosis in infancy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/508468" ref="tree=MeSH" title="MedGen record for Lumbar spondylosis">Lumbar spondylosis</a></span></li><li><span class="TLline"><a href="/medgen/436462" ref="tree=MeSH" title="MedGen record for Lumbosacral meningocele">Lumbosacral meningocele</a></span></li><li><span class="TLline"><a href="/medgen/383679" ref="tree=MeSH" title="MedGen record for Thoracolumbar kyphosis">Thoracolumbar kyphosis</a></span><ul><li><span class="TLline"><a href="/medgen/347124" ref="tree=MeSH" title="MedGen record for Thoracolumbar kyphoscoliosis">Thoracolumbar kyphoscoliosis</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/351218" ref="tree=MeSH" title="MedGen record for Abnormal odontoid process morphology">Abnormal odontoid process morphology</a></span><ul><li><span class="TLline"><a href="/medgen/375441" ref="tree=MeSH" title="MedGen record for Anteriorly placed odontoid process">Anteriorly placed odontoid process</a></span></li><li><span class="TLline"><a href="/medgen/1390011" ref="tree=MeSH" title="MedGen record for Duplicated odontoid process">Duplicated odontoid process</a></span></li><li><span class="TLline"><a href="/medgen/488994" ref="tree=MeSH" title="MedGen record for Os odontoideum">Os odontoideum</a></span><ul><li><span class="TLline"><a href="/medgen/765757" ref="tree=MeSH" title="MedGen record for Dystopic os odontoideum">Dystopic os odontoideum</a></span></li><li><span class="TLline"><a href="/medgen/1390495" ref="tree=MeSH" title="MedGen record for Orthotopic os odontoideum">Orthotopic os odontoideum</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/870793" ref="tree=MeSH" title="MedGen record for Abnormal sacrum morphology">Abnormal sacrum morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1369111" ref="tree=MeSH" title="MedGen record for Abnormal ossification of the sacrum">Abnormal ossification of the sacrum</a></span><ul><li><span class="TLline"><a href="/medgen/1371093" ref="tree=MeSH" title="MedGen record for Delayed ossification of the sacrum">Delayed ossification of the sacrum</a></span></li><li><span class="TLline"><a href="/medgen/382635" ref="tree=MeSH" title="MedGen record for Unossified sacrum">Unossified sacrum</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/488808" ref="tree=MeSH" title="MedGen record for Abnormal sacroiliac joint morphology">Abnormal sacroiliac joint morphology</a></span><ul><li><span class="TLline"><a href="/medgen/148186" ref="tree=MeSH" title="MedGen record for Sacroiliac arthritis">Sacroiliac arthritis</a></span></li><li><span class="TLline"><a href="/medgen/868504" ref="tree=MeSH" title="MedGen record for Sacroiliac joint synovitis">Sacroiliac joint synovitis</a></span></li><li><span class="TLline"><a href="/medgen/346537" ref="tree=MeSH" title="MedGen record for Wide sacroiliac joint">Wide sacroiliac joint</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/608984" ref="tree=MeSH" title="MedGen record for Dysplastic sacrum">Dysplastic sacrum</a></span></li><li><span class="TLline"><a href="/medgen/342531" ref="tree=MeSH" title="MedGen record for Horizontal sacrum">Horizontal sacrum</a></span></li><li><span class="TLline"><a href="/medgen/101069" ref="tree=MeSH" title="MedGen record for Sacral meningocele">Sacral meningocele</a></span><ul><li><span class="TLline"><a href="/medgen/401299" ref="tree=MeSH" title="MedGen record for Anterior sacral meningocele">Anterior sacral meningocele</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/340514" ref="tree=MeSH" title="MedGen record for Sacral segmentation defect">Sacral segmentation defect</a></span><ul><li><span class="TLline"><a href="/medgen/370560" ref="tree=MeSH" title="MedGen record for Abnormal sacral segmentation">Abnormal sacral segmentation</a></span></li><li><span class="TLline"><a href="/medgen/869775" ref="tree=MeSH" title="MedGen record for Bifid sacrum">Bifid sacrum</a></span></li><li><span class="TLline"><a href="/medgen/383153" ref="tree=MeSH" title="MedGen record for Hemisacrum">Hemisacrum</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869283" ref="tree=MeSH" title="MedGen record for Sacrococcygeal pilonidal abnormality">Sacrococcygeal pilonidal abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/19314" ref="tree=MeSH" title="MedGen record for Cyst - pilonidal">Cyst - pilonidal</a></span></li><li><span class="TLline"><a href="/medgen/1645120" ref="tree=MeSH" title="MedGen record for Pilonidal fistula">Pilonidal fistula</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/867603" ref="tree=MeSH" title="MedGen record for Abnormal thoracic spine morphology">Abnormal thoracic spine morphology</a></span><ul><li><span class="TLline"><a href="/medgen/578242" ref="tree=MeSH" title="MedGen record for Fractured thoracic vertebra">Fractured thoracic vertebra</a></span><ul><li><span class="TLline"><a href="/medgen/781558" ref="tree=MeSH" title="MedGen record for Compression-fractured thoracic vertebra">Compression-fractured thoracic vertebra</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/263148" ref="tree=MeSH" title="MedGen record for Thoracic kyphosis">Thoracic kyphosis</a></span><ul><li><span class="TLline"><a href="/medgen/355201" ref="tree=MeSH" title="MedGen record for Lower thoracic kyphosis">Lower thoracic kyphosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/387910" ref="tree=MeSH" title="MedGen record for Thoracic scoliosis">Thoracic scoliosis</a></span><ul><li><span class="TLline"><a href="/medgen/863902" ref="tree=MeSH" title="MedGen record for Thoracic kyphoscoliosis">Thoracic kyphoscoliosis</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/371742" ref="tree=MeSH" title="MedGen record for Abnormal vertebral morphology">Abnormal vertebral morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1716336" ref="tree=MeSH" title="MedGen record for Abnormal cervical spine morphology">Abnormal cervical spine morphology</a></span><ul><li><span class="TLline"><a href="/medgen/462873" ref="tree=MeSH" title="MedGen record for Abnormal cervical curvature">Abnormal cervical curvature</a></span></li><li><span class="TLline"><a href="/medgen/869156" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the cervical spine">Aplasia/Hypoplasia of the cervical spine</a></span></li><li><span class="TLline"><a href="/medgen/344778" ref="tree=MeSH" title="MedGen record for Cervical platyspondyly">Cervical platyspondyly</a></span></li><li><span class="TLline"><a href="/medgen/235174" ref="tree=MeSH" title="MedGen record for Cervical spondylosis">Cervical spondylosis</a></span></li><li><span class="TLline"><a href="/medgen/396199" ref="tree=MeSH" title="MedGen record for Cervical vertebral dysplasia">Cervical vertebral dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1054811" ref="tree=MeSH" title="MedGen record for Craniocervical junction constriction">Craniocervical junction constriction</a></span></li><li><span class="TLline"><a href="/medgen/537424" ref="tree=MeSH" title="MedGen record for Fractured cervical vertebra">Fractured cervical vertebra</a></span></li><li><span class="TLline"><a href="/medgen/813921" ref="tree=MeSH" title="MedGen record for Widening of cervical spinal canal">Widening of cervical spinal canal</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/374194" ref="tree=MeSH" title="MedGen record for Abnormal form of the vertebral bodies">Abnormal form of the vertebral bodies</a></span><ul><li><span class="TLline"><a href="/medgen/905295" ref="tree=MeSH" title="MedGen record for Abnormality of spinal facet joint">Abnormality of spinal facet joint</a></span></li><li><span class="TLline"><a href="/medgen/870794" ref="tree=MeSH" title="MedGen record for Abnormality of the vertebral endplates">Abnormality of the vertebral endplates</a></span></li><li><span class="TLline"><a href="/medgen/870224" ref="tree=MeSH" title="MedGen record for Abnormality of the vertebral spinous processes">Abnormality of the vertebral spinous processes</a></span></li><li><span class="TLline"><a href="/medgen/387741" ref="tree=MeSH" title="MedGen record for Anisospondyly">Anisospondyly</a></span></li><li><span class="TLline"><a href="/medgen/326972" ref="tree=MeSH" title="MedGen record for Anterior concavity of thoracic vertebrae">Anterior concavity of thoracic vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/341588" ref="tree=MeSH" title="MedGen record for Beaking of vertebral bodies">Beaking of vertebral bodies</a></span></li><li><span class="TLline"><a href="/medgen/383834" ref="tree=MeSH" title="MedGen record for Biconcave vertebral bodies">Biconcave vertebral bodies</a></span></li><li><span class="TLline"><a href="/medgen/355775" ref="tree=MeSH" title="MedGen record for Biconvex vertebral bodies">Biconvex vertebral bodies</a></span></li><li><span class="TLline"><a href="/medgen/442737" ref="tree=MeSH" title="MedGen record for Bifid thoracic vertebrae">Bifid thoracic vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/392973" ref="tree=MeSH" title="MedGen record for Cuboid-shaped vertebral bodies">Cuboid-shaped vertebral bodies</a></span></li><li><span class="TLline"><a href="/medgen/331976" ref="tree=MeSH" title="MedGen record for Disc-like vertebral bodies">Disc-like vertebral bodies</a></span></li><li><span class="TLline"><a href="/medgen/400628" ref="tree=MeSH" title="MedGen record for Increased vertebral height">Increased vertebral height</a></span></li><li><span class="TLline"><a href="/medgen/870851" ref="tree=MeSH" title="MedGen record for Irregularity of vertebral bodies">Irregularity of vertebral bodies</a></span></li><li><span class="TLline"><a href="/medgen/344549" ref="tree=MeSH" title="MedGen record for Ovoid vertebral bodies">Ovoid vertebral bodies</a></span></li><li><span class="TLline"><a href="/medgen/870845" ref="tree=MeSH" title="MedGen record for Patchy distortion of vertebrae">Patchy distortion of vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/357123" ref="tree=MeSH" title="MedGen record for Pear-shaped vertebrae">Pear-shaped vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/335010" ref="tree=MeSH" title="MedGen record for Platyspondyly">Platyspondyly</a></span></li><li><span class="TLline"><a href="/medgen/340470" ref="tree=MeSH" title="MedGen record for Sandwich appearance of vertebral bodies">Sandwich appearance of vertebral bodies</a></span></li><li><span class="TLline"><a href="/medgen/870717" ref="tree=MeSH" title="MedGen record for Trapezoidal vertebral body">Trapezoidal vertebral body</a></span></li><li><span class="TLline"><a href="/medgen/322748" ref="tree=MeSH" title="MedGen record for Vertebral arch anomaly">Vertebral arch anomaly</a></span></li><li><span class="TLline"><a href="/medgen/344586" ref="tree=MeSH" title="MedGen record for Vertebral clefting">Vertebral clefting</a></span></li><li><span class="TLline"><a href="/medgen/120495" ref="tree=MeSH" title="MedGen record for Vertebral wedging">Vertebral wedging</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868132" ref="tree=MeSH" title="MedGen record for Abnormal number of vertebrae">Abnormal number of vertebrae</a></span><ul><li><span class="TLline"><a href="/medgen/868131" ref="tree=MeSH" title="MedGen record for Decreased number of vertebrae">Decreased number of vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/75583" ref="tree=MeSH" title="MedGen record for Supernumerary vertebrae">Supernumerary vertebrae</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/866619" ref="tree=MeSH" title="MedGen record for Abnormally ossified vertebrae">Abnormally ossified vertebrae</a></span><ul><li><span class="TLline"><a href="/medgen/371455" ref="tree=MeSH" title="MedGen record for Absent or minimally ossified vertebral bodies">Absent or minimally ossified vertebral bodies</a></span></li><li><span class="TLline"><a href="/medgen/868365" ref="tree=MeSH" title="MedGen record for Delayed ossification of vertebral epiphysis">Delayed ossification of vertebral epiphysis</a></span></li><li><span class="TLline"><a href="/medgen/1379351" ref="tree=MeSH" title="MedGen record for Delayed vertebral ossification">Delayed vertebral ossification</a></span></li><li><span class="TLline"><a href="/medgen/870849" ref="tree=MeSH" title="MedGen record for Supernumerary vertebral ossification centers">Supernumerary vertebral ossification centers</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870850" ref="tree=MeSH" title="MedGen record for Dysplasia of second lumbar vertebra">Dysplasia of second lumbar vertebra</a></span></li><li><span class="TLline"><a href="/medgen/907826" ref="tree=MeSH" title="MedGen record for Modic type vertebral endplate changes">Modic type vertebral endplate changes</a></span><ul><li><span class="TLline"><a href="/medgen/898817" ref="tree=MeSH" title="MedGen record for Modic type I vertebral endplate changes">Modic type I vertebral endplate changes</a></span></li><li><span class="TLline"><a href="/medgen/906838" ref="tree=MeSH" title="MedGen record for Modic type II vertebral endplate changes">Modic type II vertebral endplate changes</a></span></li><li><span class="TLline"><a href="/medgen/904146" ref="tree=MeSH" title="MedGen record for Modic type III vertebral endplate changes">Modic type III vertebral endplate changes</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870665" ref="tree=MeSH" title="MedGen record for Multiple small vertebral fractures">Multiple small vertebral fractures</a></span></li><li><span class="TLline"><a href="/medgen/870240" ref="tree=MeSH" title="MedGen record for Punctate vertebral calcifications">Punctate vertebral calcifications</a></span></li><li><span class="TLline"><a href="/medgen/98380" ref="tree=MeSH" title="MedGen record for Schmorl node">Schmorl node</a></span></li><li><span class="TLline"><a href="/medgen/374866" ref="tree=MeSH" title="MedGen record for Sclerotic vertebral body">Sclerotic vertebral body</a></span></li><li><span class="TLline"><a href="/medgen/75497" ref="tree=MeSH" title="MedGen record for Vertebral compression fracture">Vertebral compression fracture</a></span><ul><li><span class="TLline"><a href="/medgen/1053471" ref="tree=MeSH" title="MedGen record for Vertebra plana">Vertebra plana</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/96577" ref="tree=MeSH" title="MedGen record for Vertebral segmentation defect">Vertebral segmentation defect</a></span><ul><li><span class="TLline"><a href="/medgen/349503" ref="tree=MeSH" title="MedGen record for Cervical segmentation defect">Cervical segmentation defect</a></span></li><li><span class="TLline"><a href="/medgen/82720" ref="tree=MeSH" title="MedGen record for Hemivertebrae">Hemivertebrae</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/338935" ref="tree=MeSH" title="MedGen record for Abnormality of the cervical spine">Abnormality of the cervical spine</a></span><ul><li><span class="TLline"><a href="/medgen/870237" ref="tree=MeSH" title="MedGen record for C1-C2 vertebral abnormality">C1-C2 vertebral abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/376359" ref="tree=MeSH" title="MedGen record for C1-C2 subluxation">C1-C2 subluxation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/108277" ref="tree=MeSH" title="MedGen record for Cervical spine hypermobility">Cervical spine hypermobility</a></span></li><li><span class="TLline"><a href="/medgen/96083" ref="tree=MeSH" title="MedGen record for Cervical spine instability">Cervical spine instability</a></span></li><li><span class="TLline"><a href="/medgen/339749" ref="tree=MeSH" title="MedGen record for Cervical vertebral bodies with decreased anteroposterior diameter">Cervical vertebral bodies with decreased anteroposterior diameter</a></span></li><li><span class="TLline"><a href="/medgen/395323" ref="tree=MeSH" title="MedGen record for Decreased cervical spine mobility">Decreased cervical spine mobility</a></span></li><li><span class="TLline"><a href="/medgen/870664" ref="tree=MeSH" title="MedGen record for Enlarged sagittal diameter of the cervical canal">Enlarged sagittal diameter of the cervical canal</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871145" ref="tree=MeSH" title="MedGen record for Atlantoaxial abnormality">Atlantoaxial abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/82672" ref="tree=MeSH" title="MedGen record for Atlantoaxial dislocation">Atlantoaxial dislocation</a></span><ul><li><span class="TLline"><a href="/medgen/870703" ref="tree=MeSH" title="MedGen record for Anterior atlanto-occipital dislocation">Anterior atlanto-occipital dislocation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/98381" ref="tree=MeSH" title="MedGen record for Atlantoaxial instability">Atlantoaxial instability</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1814635" ref="tree=MeSH" title="MedGen record for Neuropathic spinal arthropathy">Neuropathic spinal arthropathy</a></span></li><li><span class="TLline"><a href="/medgen/1864059" ref="tree=MeSH" title="MedGen record for Paravertebral mass">Paravertebral mass</a></span></li><li><span class="TLline"><a href="/medgen/870238" ref="tree=MeSH" title="MedGen record for Reversed usual vertebral column curves">Reversed usual vertebral column curves</a></span></li><li><span class="TLline"><a href="/medgen/396107" ref="tree=MeSH" title="MedGen record for Spinal canal stenosis">Spinal canal stenosis</a></span><ul><li><span class="TLline"><a href="/medgen/335056" ref="tree=MeSH" title="MedGen record for Cervical spinal canal stenosis">Cervical spinal canal stenosis</a></span></li><li><span class="TLline"><a href="/medgen/488791" ref="tree=MeSH" title="MedGen record for Lumbar spinal canal stenosis">Lumbar spinal canal stenosis</a></span></li><li><span class="TLline"><a href="/medgen/867265" ref="tree=MeSH" title="MedGen record for Spinal stenosis with reduced interpedicular distance">Spinal stenosis with reduced interpedicular distance</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867475" ref="tree=MeSH" title="MedGen record for Spinal dysplasia">Spinal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/96082" ref="tree=MeSH" title="MedGen record for Spinal instability">Spinal instability</a></span><ul><li><span class="TLline"><a href="/medgen/350138" ref="tree=MeSH" title="MedGen record for Cervical instability">Cervical instability</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/346721" ref="tree=MeSH" title="MedGen record for Spinal rigidity">Spinal rigidity</a></span></li><li><span class="TLline"><a href="/medgen/11560" ref="tree=MeSH" title="MedGen record for Spondylitis">Spondylitis</a></span><ul><li><span class="TLline"><a href="/medgen/215416" ref="tree=MeSH" title="MedGen record for Inflammatory spondylopathy">Inflammatory spondylopathy</a></span><ul><li><span class="TLline"><a href="/medgen/11561" ref="tree=MeSH" title="MedGen record for Ankylosing spondylitis">Ankylosing spondylitis</a></span></li><li><span class="TLline"><a href="/medgen/1784865" ref="tree=MeSH" title="MedGen record for Enteropathic Spondylitis">Enteropathic Spondylitis</a></span></li><li><span class="TLline"><a href="/medgen/592564" ref="tree=MeSH" title="MedGen record for Juvenile spondyloarthropathy">Juvenile spondyloarthropathy</a></span></li><li><span class="TLline"><a href="/medgen/389941" ref="tree=MeSH" title="MedGen record for Osteoarthritis, spine">Osteoarthritis, spine</a></span></li><li><span class="TLline"><a href="/medgen/181888" ref="tree=MeSH" title="MedGen record for Spondyloarthropathy">Spondyloarthropathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/11948" ref="tree=MeSH" title="MedGen record for Tuberculosis, spinal">Tuberculosis, spinal</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/52470" ref="tree=MeSH" title="MedGen record for Spondylolisthesis">Spondylolisthesis</a></span><ul><li><span class="TLline"><a href="/medgen/477430" ref="tree=MeSH" title="MedGen record for Spondylolisthesis at L5-S1">Spondylolisthesis at L5-S1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/21294" ref="tree=MeSH" title="MedGen record for Spondylolysis">Spondylolysis</a></span><ul><li><span class="TLline"><a href="/medgen/163399" ref="tree=MeSH" title="MedGen record for Congenital spondylolysis">Congenital spondylolysis</a></span><ul><li><span class="TLline"><a href="/medgen/96576" ref="tree=MeSH" title="MedGen record for Congenital spondylolysis of lumbosacral region">Congenital spondylolysis of lumbosacral region</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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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="divPopper rprt" id="rdis_113104"><div><strong>Hypertelorism, microtia, facial clefting syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113104</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.">C0220742</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A very rare syndrome with characteristics of the combination of hypertelorism, cleft lip and palate and microtia. Nine cases have been reported in the literature in seven families. Some patients have associated cardiac or renal congenital malformations. Short stature and intellectual deficiency are common. The reported cases support autosomal recessive inheritance.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/113104">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_83349"><div><strong>3-hydroxyisobutyryl-CoA hydrolase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83349</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.">C0342738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">3-Hydroxyisobutyryl-CoA hydrolase deficiency (HIBCHD) is an autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia (summary by Ferdinandusse et al., 2013).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/83349">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_83372"><div><strong>Intradural spinal arachnoid cyst</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83372</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.">C0344485</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Spinal intradural arachnoid cysts are cerebrospinal fluid -filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and arecaused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/83372">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_167115"><div><strong>3MC syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167115</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.">C0796279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011). For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (257920).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167115">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_320444"><div><strong>Metaphyseal dysplasia without hypotrichosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>320444</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.">C1834821</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine, silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/320444">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335932"><div><strong>Autosomal dominant osteopetrosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335932</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.">C1843330</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The osteopetroses are a heterogeneous group of genetic disorders characterized by increased bone density due to impaired bone resorption by osteoclasts. Autosomal dominant osteopetrosis-1 (OPTA1) is characterized by generalized osteosclerosis most pronounced in the cranial vault. Patients are often asymptomatic, but some suffer from pain and hearing loss. It appears to be the only type of osteopetrosis not associated with an increased fracture rate (summary by Van Hul et al., 2002). Genetic Heterogeneity of Autosomal Dominant Osteopetrosis Autosomal dominant osteopetrosis-2 (OPTA2; 166600) is caused by mutation in the CLCN7 gene (602727) on chromosome 16p13. Autosomal dominant osteopetrosis-3 (OPTA3; 618107) is caused by mutation in the PLEKHM1 gene (611466) on chromosome 17q21.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335932">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376400"><div><strong>VACTERL with hydrocephalus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376400</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.">C1848599</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">VACTERL describes a constellation of congenital anomalies, including vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects; see 192350. Cases of familial VACTERL with hydrocephalus (H) have been reported with suggestion of autosomal recessive or X-linked inheritance (see 314390). Other patients thought to have VACTERL-H, including 2 unrelated infants reported by Porteous et al. (1992), had been found to have Fanconi anemia (see 227650). Porteous et al. (1992) suggested that chromosomal breakage studies should be performed in all cases of VACTERL/VACTERL-H to rule out Fanconi anemia. Alter et al. (2007) noted that a VATER phenotype had been reported in Fanconi anemia of complementation groups A (227650), C (227645), D1 (605724), E (600901), F (603467), and G (614082). X-linked VACTERL-H is also associated with mutations in the FANCB gene (300515).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376400">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338945"><div><strong>Craniometaphyseal dysplasia, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338945</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.">C1852502</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant craniometaphyseal dysplasia (designated AD-CMD in this review) is characterized by progressive diffuse hyperostosis of cranial bones evident clinically as wide nasal bridge, paranasal bossing, widely spaced eyes with an increase in bizygomatic width, and prominent mandible. Development of dentition may be delayed and teeth may fail to erupt as a result of hyperostosis and sclerosis of alveolar bone. Progressive thickening of craniofacial bones continues throughout life, often resulting in narrowing of the cranial foramina, including the foramen magnum. If untreated, compression of cranial nerves can lead to disabling conditions such as facial palsy, blindness, or deafness (conductive and/or sensorineural hearing loss). In individuals with typical uncomplicated AD-CMD life expectancy is normal; in those with severe AD-CMD life expectancy can be reduced as a result of compression of the foramen magnum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338945">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_342798"><div><strong>Cerebrooculofacioskeletal syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342798</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.">C1853100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebrooculofacioskeletal syndrome-4 (COFS4) is a severe autosomal recessive disorder characterized by growth retardation, dysmorphic facial features, arthrogryposis, and neurologic abnormalities. Cellular studies show a defect in both transcription-coupled and global genome nucleotide excision repair (TC-NER and GG-NER) (summary by Jaspers et al., 2007 and Kashiyama et al., 2013). For a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see 214150.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342798">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_348149"><div><strong>Ulna metaphyseal dysplasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348149</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.">C1860615</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348149">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_348426"><div><strong>Cervical vertebral Bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348426</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.">C1861694</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348426">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350598"><div><strong>Osebold-Remondini syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350598</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.">C1862130</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Osebold-Remondini syndrome is a bone dysplasia with mesomelic shortness of limbs and, hence, shortness of stature, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, carpal and tarsal coalitions, and apparently no other anomalies (summary by Opitz and Gilbert, 1985). See 602875 for a discussion of genetic heterogeneity of autosomal recessive acromesomelic dysplasia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350598">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349489"><div><strong>Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349489</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.">C1862373</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349489">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355447"><div><strong>Ossification of the posterior longitudinal ligament of the spine</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355447</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.">C1865343</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ossification of the posterior longitudinal ligament of the spine (OPLL) is a common degenerative spinal disorder that causes severe neurologic dysfunction in middle-aged and elderly populations. This ectopic ossification results in compression of the spinal cord and nerve root by the ossified ligament. Histologic studies of OPLL suggest that OPLL develops through a process of endochondral ossification (summary by Nakajima et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355447">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_401047"><div><strong>Holoprosencephaly-radial heart renal anomalies syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401047</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.">C1866649</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This syndrome has characteristics of holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. It has been described in two families (with at least seven affected persons). Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula. Inheritance is likely to be autosomal dominant with variable expressivity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/401047">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419019"><div><strong>VACTERL association, X-linked, with or without hydrocephalus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419019</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.">C2931228</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb; see 192350). Some patients may have hydrocephalus, which is referred to as VACTERL-H (Briard et al., 1984).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419019">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_777171"><div><strong>X-linked chondrodysplasia punctata 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>777171</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.">C3669395</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked chondrodysplasia punctata 1 (CDPX1) is characterized by chondrodysplasia punctata (stippled epiphyses), brachytelephalangy (shortening of the distal phalanges), and nasomaxillary hypoplasia. Although most affected males have minimal morbidity and skeletal findings that improve by adulthood, some have significant medical problems including respiratory involvement, cervical spine stenosis and instability, mixed conductive and sensorineural hearing loss, and intellectual disability.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/777171">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_931237"><div><strong>Mayer-Rokitansky-Küster-Hauser syndrome type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>931237</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.">C4305568</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome (see this term), is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MÜllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/931237">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83349" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3-hydroxyisobutyryl-CoA hydrolase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_167115" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3MC syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335932" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant osteopetrosis 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349489" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342798" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebrooculofacioskeletal syndrome 4</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (18)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348426" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cervical vertebral Bridge</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338945" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniometaphyseal dysplasia, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_401047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Holoprosencephaly-radial heart renal anomalies syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_113104" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism, microtia, facial clefting syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83372" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intradural spinal arachnoid cyst</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_931237" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mayer-Rokitansky-Küster-Hauser syndrome type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_320444" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal dysplasia without hypotrichosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350598" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osebold-Remondini syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355447" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ossification of the posterior longitudinal ligament of the spine</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ulna metaphyseal dysplasia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">VACTERL association, X-linked, with or without hydrocephalus</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376400" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">VACTERL with hydrocephalus</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_777171" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked chondrodysplasia punctata 1</a></div></span></div></div>
|
||
</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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||
<div class="nl"><a target="_blank" href="/pubmed/34272605">Sacroiliac joint dysfunction: pathophysiology, diagnosis, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gartenberg A,
|
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Nessim A,
|
||
Cho W</span><br />
|
||
<span class="medgenPMjournal">Eur Spine J</span>
|
||
2021 Oct;30(10):2936-2943.
|
||
Epub 2021 Jul 16
|
||
doi: 10.1007/s00586-021-06927-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34272605" target="_blank">34272605</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25623270">Early-onset scoliosis: current treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cunin V</span><br />
|
||
<span class="medgenPMjournal">Orthop Traumatol Surg Res</span>
|
||
2015 Feb;101(1 Suppl):S109-18.
|
||
Epub 2015 Jan 23
|
||
doi: 10.1016/j.otsr.2014.06.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25623270" target="_blank">25623270</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22608954">International Spine Radiosurgery Consortium consensus guidelines for target volume definition in spinal stereotactic radiosurgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cox BW,
|
||
Spratt DE,
|
||
Lovelock M,
|
||
Bilsky MH,
|
||
Lis E,
|
||
Ryu S,
|
||
Sheehan J,
|
||
Gerszten PC,
|
||
Chang E,
|
||
Gibbs I,
|
||
Soltys S,
|
||
Sahgal A,
|
||
Deasy J,
|
||
Flickinger J,
|
||
Quader M,
|
||
Mindea S,
|
||
Yamada Y</span><br />
|
||
<span class="medgenPMjournal">Int J Radiat Oncol Biol Phys</span>
|
||
2012 Aug 1;83(5):e597-605.
|
||
Epub 2012 May 19
|
||
doi: 10.1016/j.ijrobp.2012.03.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22608954" target="_blank">22608954</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20the%20vertebral%20column)%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 (563)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39642685">Sacral Agenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sánchez-Romero M,
|
||
Tlaxcala-Castillo L,
|
||
Pichardo-Rojas PS,
|
||
Valencia-Melo MA,
|
||
Paz-López ÁA,
|
||
Sánchez-Sagastegui F,
|
||
Wegman-Ostrosky T;
|
||
International Sacral Agenesis/Caudal Regression Association</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2025 Feb;163:27-34.
|
||
Epub 2024 Nov 5
|
||
doi: 10.1016/j.pediatrneurol.2024.10.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39642685" target="_blank">39642685</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38321032">Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao S,
|
||
Zhao H,
|
||
Zhao L,
|
||
Cheng X,
|
||
Zheng Z,
|
||
Wu M,
|
||
Wen W,
|
||
Wang S,
|
||
Zhou Z,
|
||
Xie H,
|
||
Ruan D,
|
||
Li Q,
|
||
Liu X,
|
||
Ou C,
|
||
Li G,
|
||
Zhao Z,
|
||
Chen G,
|
||
Niu Y,
|
||
Yin X,
|
||
Hu Y,
|
||
Zhang X;
|
||
Deciphering disorders Involving Scoliosis and COmorbidities (DISCO) study,
|
||
Liu P,
|
||
Qiu G,
|
||
Liu W,
|
||
Zhao C,
|
||
Wu Z,
|
||
Zhang J,
|
||
Wu N</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2024 Feb 6;15(1):1125.
|
||
doi: 10.1038/s41467-024-45442-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38321032" target="_blank">38321032</a><a href="/pmc/articles/PMC10847475" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37195727">Clinical Presentations and Diagnostic Imaging of VACTERL Association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tonni G,
|
||
Koçak Ç,
|
||
Grisolia G,
|
||
Rizzo G,
|
||
Araujo Júnior E,
|
||
Werner H,
|
||
Ruano R,
|
||
Sepulveda W,
|
||
Bonasoni MP,
|
||
Lituania M;
|
||
“International Perinatology Research Group (IPRG)”</span><br />
|
||
<span class="medgenPMjournal">Fetal Pediatr Pathol</span>
|
||
2023 Aug;42(4):651-674.
|
||
Epub 2023 May 17
|
||
doi: 10.1080/15513815.2023.2206905.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37195727" target="_blank">37195727</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30580478">The etiology of VACTERL association: Current knowledge and hypotheses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Solomon BD</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2018 Dec;178(4):440-446.
|
||
doi: 10.1002/ajmg.c.31664.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30580478" target="_blank">30580478</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14618384">Congenital scoliosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arlet V,
|
||
Odent T,
|
||
Aebi M</span><br />
|
||
<span class="medgenPMjournal">Eur Spine J</span>
|
||
2003 Oct;12(5):456-63.
|
||
Epub 2003 Jun 14
|
||
doi: 10.1007/s00586-003-0555-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14618384" target="_blank">14618384</a><a href="/pmc/articles/PMC3468011" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20vertebral%20column%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 (7851)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39642685">Sacral Agenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sánchez-Romero M,
|
||
Tlaxcala-Castillo L,
|
||
Pichardo-Rojas PS,
|
||
Valencia-Melo MA,
|
||
Paz-López ÁA,
|
||
Sánchez-Sagastegui F,
|
||
Wegman-Ostrosky T;
|
||
International Sacral Agenesis/Caudal Regression Association</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2025 Feb;163:27-34.
|
||
Epub 2024 Nov 5
|
||
doi: 10.1016/j.pediatrneurol.2024.10.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39642685" target="_blank">39642685</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35037266">Prenatal diagnosis of VACTERL association in the first trimester.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang W,
|
||
Chen J</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2022 Apr;42(4):482-483.
|
||
Epub 2022 Jan 31
|
||
doi: 10.1002/pd.6100.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35037266" target="_blank">35037266</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31577545">Klippel-Feil syndrome: a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frikha R</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2020 Jan;29(1):35-37.
|
||
doi: 10.1097/MCD.0000000000000301.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31577545" target="_blank">31577545</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29189693">Practice Bulletin No. 187: Neural Tube Defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Obstet Gynecol</span>
|
||
2017 Dec;130(6):e279-e290.
|
||
doi: 10.1097/AOG.0000000000002412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29189693" target="_blank">29189693</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21846383">VACTERL/VATER Association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Solomon BD</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2011 Aug 16;6:56.
|
||
doi: 10.1186/1750-1172-6-56.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21846383" target="_blank">21846383</a><a href="/pmc/articles/PMC3169446" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20vertebral%20column%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 (9134)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31787159">Radial Ray Malformation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Society for Maternal-Fetal Medicine (SMFM),
|
||
Gandhi M,
|
||
Rac MWF,
|
||
McKinney J</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2019 Dec;221(6):B16-B18.
|
||
doi: 10.1016/j.ajog.2019.09.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31787159" target="_blank">31787159</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29189693">Practice Bulletin No. 187: Neural Tube Defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Obstet Gynecol</span>
|
||
2017 Dec;130(6):e279-e290.
|
||
doi: 10.1097/AOG.0000000000002412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29189693" target="_blank">29189693</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28837459">The Crankshaft Phenomenon.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Murphy RF,
|
||
Mooney JF 3rd</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Orthop Surg</span>
|
||
2017 Sep;25(9):e185-e193.
|
||
doi: 10.5435/JAAOS-D-16-00584.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28837459" target="_blank">28837459</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8208267">Magnetic resonance imaging of the lumbar spine in people without back pain.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jensen MC,
|
||
Brant-Zawadzki MN,
|
||
Obuchowski N,
|
||
Modic MT,
|
||
Malkasian D,
|
||
Ross JS</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1994 Jul 14;331(2):69-73.
|
||
doi: 10.1056/NEJM199407143310201.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8208267" target="_blank">8208267</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4354695">Phenocopies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lenz W</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1973 Mar;10(1):34-49.
|
||
doi: 10.1136/jmg.10.1.34.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4354695" target="_blank">4354695</a><a href="/pmc/articles/PMC1012974" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20vertebral%20column%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 (2922)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39642685">Sacral Agenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sánchez-Romero M,
|
||
Tlaxcala-Castillo L,
|
||
Pichardo-Rojas PS,
|
||
Valencia-Melo MA,
|
||
Paz-López ÁA,
|
||
Sánchez-Sagastegui F,
|
||
Wegman-Ostrosky T;
|
||
International Sacral Agenesis/Caudal Regression Association</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2025 Feb;163:27-34.
|
||
Epub 2024 Nov 5
|
||
doi: 10.1016/j.pediatrneurol.2024.10.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39642685" target="_blank">39642685</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31577545">Klippel-Feil syndrome: a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frikha R</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2020 Jan;29(1):35-37.
|
||
doi: 10.1097/MCD.0000000000000301.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31577545" target="_blank">31577545</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21846383">VACTERL/VATER Association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Solomon BD</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2011 Aug 16;6:56.
|
||
doi: 10.1186/1750-1172-6-56.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21846383" target="_blank">21846383</a><a href="/pmc/articles/PMC3169446" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16502557">Unilateral pulmonary agenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greenough A,
|
||
Ahmed T,
|
||
Broughton S</span><br />
|
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<span class="medgenPMjournal">J Perinat Med</span>
|
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2006;34(1):80-1.
|
||
doi: 10.1515/JPM.2006.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16502557" target="_blank">16502557</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9603237">Neuro-osteology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kjaer I</span><br />
|
||
<span class="medgenPMjournal">Crit Rev Oral Biol Med</span>
|
||
1998;9(2):224-44.
|
||
doi: 10.1177/10454411980090020501.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9603237" target="_blank">9603237</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20vertebral%20column%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 (4168)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34288888">Klippel-Feil Syndrome: Pathogenesis, Diagnosis, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Litrenta J,
|
||
Bi AS,
|
||
Dryer JW</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Orthop Surg</span>
|
||
2021 Nov 15;29(22):951-960.
|
||
doi: 10.5435/JAAOS-D-21-00190.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34288888" target="_blank">34288888</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29601382">Classification in Brief: SRS-Schwab Classification of Adult Spinal Deformity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Slattery C,
|
||
Verma K</span><br />
|
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<span class="medgenPMjournal">Clin Orthop Relat Res</span>
|
||
2018 Sep;476(9):1890-1894.
|
||
doi: 10.1007/s11999.0000000000000264.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29601382" target="_blank">29601382</a><a href="/pmc/articles/PMC6259802" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24931924">Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brosens E,
|
||
Ploeg M,
|
||
van Bever Y,
|
||
Koopmans AE,
|
||
IJsselstijn H,
|
||
Rottier RJ,
|
||
Wijnen R,
|
||
Tibboel D,
|
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de Klein A</span><br />
|
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<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2014 Aug;57(8):440-52.
|
||
Epub 2014 Jun 13
|
||
doi: 10.1016/j.ejmg.2014.05.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24931924" target="_blank">24931924</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14618384">Congenital scoliosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arlet V,
|
||
Odent T,
|
||
Aebi M</span><br />
|
||
<span class="medgenPMjournal">Eur Spine J</span>
|
||
2003 Oct;12(5):456-63.
|
||
Epub 2003 Jun 14
|
||
doi: 10.1007/s00586-003-0555-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14618384" target="_blank">14618384</a><a href="/pmc/articles/PMC3468011" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10799633">Coccygeal pits.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weprin BE,
|
||
Oakes WJ</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2000 May;105(5):E69.
|
||
doi: 10.1542/peds.105.5.e69.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10799633" target="_blank">10799633</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20vertebral%20column%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 (4855)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<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/37805519">The correlation between the lumbar disc MRI high-intensity zone and discogenic low back pain: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang L,
|
||
Li W,
|
||
Yang Y,
|
||
Zhao H,
|
||
Yu X</span><br />
|
||
<span class="medgenPMjournal">J Orthop Surg Res</span>
|
||
2023 Oct 7;18(1):758.
|
||
doi: 10.1186/s13018-023-04187-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37805519" target="_blank">37805519</a><a href="/pmc/articles/PMC10559531" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28514262">Infection Control in Pediatric Spinal Deformity Surgery: A Systematic and Critical Analysis Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mistovich RJ,
|
||
Jacobs LJ,
|
||
Campbell RM,
|
||
Spiegel DA,
|
||
Flynn JM,
|
||
Baldwin KD</span><br />
|
||
<span class="medgenPMjournal">JBJS Rev</span>
|
||
2017 May;5(5):e3.
|
||
doi: 10.2106/JBJS.RVW.16.00071.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28514262" target="_blank">28514262</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27760454">Bisphosphonate therapy for osteogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dwan K,
|
||
Phillipi CA,
|
||
Steiner RD,
|
||
Basel D</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2016 Oct 19;10(10):CD005088.
|
||
doi: 10.1002/14651858.CD005088.pub4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27760454" target="_blank">27760454</a><a href="/pmc/articles/PMC6611487" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27676689">Structural Changes of Lumbar Muscles in Non-specific Low Back Pain: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goubert D,
|
||
Oosterwijck JV,
|
||
Meeus M,
|
||
Danneels L</span><br />
|
||
<span class="medgenPMjournal">Pain Physician</span>
|
||
2016 Sep-Oct;19(7):E985-E1000.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27676689" target="_blank">27676689</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26562127">Global Birth Prevalence of Spina Bifida by Folic Acid Fortification Status: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atta CA,
|
||
Fiest KM,
|
||
Frolkis AD,
|
||
Jette N,
|
||
Pringsheim T,
|
||
St Germaine-Smith C,
|
||
Rajapakse T,
|
||
Kaplan GG,
|
||
Metcalfe A</span><br />
|
||
<span class="medgenPMjournal">Am J Public Health</span>
|
||
2016 Jan;106(1):e24-34.
|
||
Epub 2015 Nov 12
|
||
doi: 10.2105/AJPH.2015.302902.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26562127" target="_blank">26562127</a><a href="/pmc/articles/PMC4695937" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20vertebral%20column%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 (215)</a></div></div>
|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20the%20vertebral%20column)%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(%22Abnormality%20of%20the%20vertebral%20column%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></div>
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