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<meta name="keywords" content="C1834129, abnormal vertebrae, abnormal vertebral morphology, abnormality of the vertebrae, anatomical abnormality, multiple vertebral anomalies, vertebral abnormalities, vertebral anomalies, 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="An abnormality of one or more of the vertebrae." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=371742
ConceptID=C1834129
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal vertebral morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371742</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)&#10;Click for more information.">C1834129</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 anomalies</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:0003468">HP:0003468</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">An abnormality of one or more of the vertebrae. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Abnormal vertebral morphology</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="TLline"><a href="/medgen/892426" ref="tree=MeSH" title="MedGen record for Abnormality of the vertebral column">Abnormality of the vertebral column</a></span><ul><li><span class="matched_ds">Abnormal vertebral morphology</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><ul><li><span class="TLline"><a href="/medgen/107898" ref="tree=MeSH" title="MedGen record for Cervical kyphosis">Cervical kyphosis</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/870235" ref="tree=MeSH" title="MedGen record for Cervical vertebral facet hypoplasia">Cervical vertebral facet hypoplasia</a></span></li><li><span class="TLline"><a href="/medgen/140922" ref="tree=MeSH" title="MedGen record for Congenital absence of cervical vertebra">Congenital absence of cervical vertebra</a></span></li><li><span class="TLline"><a href="/medgen/372079" ref="tree=MeSH" title="MedGen record for Hypoplastic cervical vertebrae">Hypoplastic cervical vertebrae</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/1749500" ref="tree=MeSH" title="MedGen record for Compression-fractured cervical vertebra">Compression-fractured cervical vertebra</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/870231" ref="tree=MeSH" title="MedGen record for Asymmetry of spinal facet joints">Asymmetry of spinal facet joints</a></span></li><li><span class="TLline"><a href="/medgen/895209" ref="tree=MeSH" title="MedGen record for Facet joint arthrosis">Facet joint arthrosis</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/870847" ref="tree=MeSH" title="MedGen record for Hyperconvex vertebral body endplates">Hyperconvex vertebral body endplates</a></span></li><li><span class="TLline"><a href="/medgen/331233" ref="tree=MeSH" title="MedGen record for Irregular vertebral endplates">Irregular vertebral endplates</a></span></li><li><span class="TLline"><a href="/medgen/1642576" ref="tree=MeSH" title="MedGen record for Sclerotic vertebral endplates">Sclerotic vertebral endplates</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/870233" ref="tree=MeSH" title="MedGen record for Absent spinous processes of lower thoracic and lumbar vertebrae">Absent spinous processes of lower thoracic and lumbar vertebrae</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/870846" ref="tree=MeSH" title="MedGen record for Anterior beaking of lower thoracic vertebrae">Anterior beaking of lower thoracic vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/867183" ref="tree=MeSH" title="MedGen record for Anterior beaking of lumbar vertebrae">Anterior beaking of lumbar vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/870842" ref="tree=MeSH" title="MedGen record for Anterior beaking of thoracic vertebrae">Anterior beaking of thoracic vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/381522" ref="tree=MeSH" title="MedGen record for Beaking of vertebral bodies T12-L3">Beaking of vertebral bodies T12-L3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/383834" ref="tree=MeSH" title="MedGen record for Biconcave vertebral bodies">Biconcave vertebral bodies</a></span><ul><li><span class="TLline"><a href="/medgen/435977" ref="tree=MeSH" title="MedGen record for Anterior scalloping of vertebral bodies">Anterior scalloping of vertebral bodies</a></span></li><li><span class="TLline"><a href="/medgen/318956" ref="tree=MeSH" title="MedGen record for Biconcave flattened vertebrae">Biconcave flattened vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/337993" ref="tree=MeSH" title="MedGen record for Posterior scalloping of vertebral bodies">Posterior scalloping of vertebral bodies</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/344464" ref="tree=MeSH" title="MedGen record for Cuboid-shaped thoracolumbar vertebral bodies">Cuboid-shaped thoracolumbar vertebral bodies</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/355788" ref="tree=MeSH" title="MedGen record for Increased anterior vertebral height">Increased anterior vertebral height</a></span></li><li><span class="TLline"><a href="/medgen/350137" ref="tree=MeSH" title="MedGen record for Tall lumbar vertebral bodies">Tall lumbar vertebral bodies</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/337952" ref="tree=MeSH" title="MedGen record for Anterior rounding of vertebral bodies">Anterior rounding of vertebral bodies</a></span></li><li><span class="TLline"><a href="/medgen/401469" ref="tree=MeSH" title="MedGen record for Ovoid thoracolumbar vertebrae">Ovoid thoracolumbar vertebrae</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/870688" ref="tree=MeSH" title="MedGen record for Flattened moderately deformed vertebrae">Flattened moderately deformed vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/870682" ref="tree=MeSH" title="MedGen record for Lumbar platyspondyly">Lumbar platyspondyly</a></span></li><li><span class="TLline"><a href="/medgen/338014" ref="tree=MeSH" title="MedGen record for Severe platyspondyly">Severe platyspondyly</a></span></li><li><span class="TLline"><a href="/medgen/376505" ref="tree=MeSH" title="MedGen record for Squared-off platyspondyly">Squared-off platyspondyly</a></span></li><li><span class="TLline"><a href="/medgen/400049" ref="tree=MeSH" title="MedGen record for Thoracic platyspondyly">Thoracic platyspondyly</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/868150" ref="tree=MeSH" title="MedGen record for Abnormal vertebral pedicle morphology">Abnormal vertebral pedicle morphology</a></span></li><li><span class="TLline"><a href="/medgen/349323" ref="tree=MeSH" title="MedGen record for Butterfly vertebral arch">Butterfly vertebral arch</a></span></li><li><span class="TLline"><a href="/medgen/395267" ref="tree=MeSH" title="MedGen record for Cleft vertebral arch">Cleft vertebral arch</a></span></li><li><span class="TLline"><a href="/medgen/318662" ref="tree=MeSH" title="MedGen record for Narrow vertebral interpedicular distance">Narrow vertebral interpedicular distance</a></span></li><li><span class="TLline"><a href="/medgen/868390" ref="tree=MeSH" title="MedGen record for Widened interpedicular distance">Widened interpedicular distance</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/344586" ref="tree=MeSH" title="MedGen record for Vertebral clefting">Vertebral clefting</a></span><ul><li><span class="TLline"><a href="/medgen/337861" ref="tree=MeSH" title="MedGen record for Anterior clefting of vertebral bodies">Anterior clefting of vertebral bodies</a></span></li><li><span class="TLline"><a href="/medgen/1744309" ref="tree=MeSH" title="MedGen record for Butterfly vertebrae">Butterfly vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/320483" ref="tree=MeSH" title="MedGen record for Coronal cleft vertebrae">Coronal cleft vertebrae</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/120495" ref="tree=MeSH" title="MedGen record for Vertebral wedging">Vertebral wedging</a></span><ul><li><span class="TLline"><a href="/medgen/870239" ref="tree=MeSH" title="MedGen record for Anterior wedging of L1">Anterior wedging of L1</a></span></li><li><span class="TLline"><a href="/medgen/868711" ref="tree=MeSH" title="MedGen record for Anterior wedging of L2">Anterior wedging of L2</a></span></li><li><span class="TLline"><a href="/medgen/867290" ref="tree=MeSH" title="MedGen record for Anterior wedging of T11">Anterior wedging of T11</a></span></li><li><span class="TLline"><a href="/medgen/866758" ref="tree=MeSH" title="MedGen record for Anterior wedging of T12">Anterior wedging of T12</a></span></li><li><span class="TLline"><a href="/medgen/370074" ref="tree=MeSH" title="MedGen record for Posterior wedging of vertebral bodies">Posterior wedging of vertebral bodies</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/868130" ref="tree=MeSH" title="MedGen record for 11 thoracic vertebrae">11 thoracic vertebrae</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75583" ref="tree=MeSH" title="MedGen record for Supernumerary vertebrae">Supernumerary vertebrae</a></span><ul><li><span class="TLline"><a href="/medgen/326447" ref="tree=MeSH" title="MedGen record for Six lumbar vertebrae">Six lumbar vertebrae</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/870661" ref="tree=MeSH" title="MedGen record for Absent ossification of cervical vertebral bodies">Absent ossification of cervical vertebral bodies</a></span></li><li><span class="TLline"><a href="/medgen/868327" ref="tree=MeSH" title="MedGen record for Absent ossification of thoracic vertebral bodies">Absent ossification of thoracic vertebral bodies</a></span></li><li><span class="TLline"><a href="/medgen/349746" ref="tree=MeSH" title="MedGen record for Absent vertebral body mineralization">Absent vertebral body mineralization</a></span></li><li><span class="TLline"><a href="/medgen/867569" ref="tree=MeSH" title="MedGen record for Poorly ossified vertebrae">Poorly ossified vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/349749" ref="tree=MeSH" title="MedGen record for Unossified vertebral bodies">Unossified vertebral bodies</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/609382" ref="tree=MeSH" title="MedGen record for Cervical hemivertebrae">Cervical hemivertebrae</a></span></li><li><span class="TLline"><a href="/medgen/98474" ref="tree=MeSH" title="MedGen record for Lumbar hemivertebrae">Lumbar hemivertebrae</a></span></li><li><span class="TLline"><a href="/medgen/98142" ref="tree=MeSH" title="MedGen record for Thoracic hemivertebrae">Thoracic hemivertebrae</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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)&#10;Click for more information.">C0220742</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<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>
<div class="spaceAbove nowrap">See: <a href="/medgen/113104">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_120532"><div><strong>Baller-Gerold syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120532</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)&#10;Click for more information.">C0265308</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. The coronal suture is most commonly affected; the metopic, lambdoid, and sagittal sutures may also be involved alone or in combination. Upper limb abnormality can include a combination of thumb hypo- or aplasia and radial hypo- or aplasia and may be asymmetric. Malformation or absence of carpal or metacarpal bones has also been described. Skin lesions may appear anytime within the first few years after birth, typically beginning with erythema of the face and extremities and evolving into poikiloderma. Slow growth is apparent in infancy with eventual height and length typically at 4 SD below the mean.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/120532">Condition Record</a></div></div>
<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)&#10;Click for more information.">C0342738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<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>
<div class="spaceAbove nowrap">See: <a href="/medgen/83349">Condition Record</a></div></div>
<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)&#10;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).&#13; 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_324959"><div><strong>Mesomelia-synostoses syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324959</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)&#10;Click for more information.">C1838162</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, congenital heart disease, and ureteral anomalies (summary by Isidor et al., 2009).&#13; Mesomelia and synostoses are also cardinal features of the Kantaputra type of mesomelic dysplasia (156232).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/324959">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_336901"><div><strong>Fanconi anemia complementation group B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336901</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)&#10;Click for more information.">C1845292</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/336901">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)&#10;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).&#13; 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_395189"><div><strong>Chondrodysplasia Blomstrand type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395189</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)&#10;Click for more information.">C1859148</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Blomstrand chondrodysplasia (BOCD) is a lethal autosomal recessive disorder characterized by short limbs, polyhydramnios, hydrops fetalis, facial anomalies, increased bone density, and advanced skeletal maturation (summary by Loshkajian et al., 1997).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/395189">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_400262"><div><strong>Acropectorovertebral dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400262</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)&#10;Click for more information.">C1863307</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Acropectorovertebral dysgenesis, or F syndrome, is an autosomal dominant skeletal dysplasia characterized by carpal and tarsal synostoses, syndactyly between the first and second fingers, hypodactyly and polydactyly of feet, and abnormalities of the sternum and spine (summary by Thiele et al., 2004).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/400262">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)&#10;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)&#10;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_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)&#10;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_906140"><div><strong>Microcephaly, short stature, and impaired glucose metabolism 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>906140</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)&#10;Click for more information.">C4225195</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Microcephaly, short stature, and impaired glucose metabolism-2 (MSSGM2) is an autosomal recessive syndrome characterized by microcephaly associated with impaired intellectual development, and short stature. Patients develop diabetes in the second or third decade of life, and hypothyroidism and delayed puberty have also been reported (Abdulkarim et al., 2015; Kernohan et al., 2015).&#13; For a discussion of genetic heterogeneity of microcephaly, short stature, and impaired glucose metabolism, see MSSGM1 (616033).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/906140">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_895943"><div><strong>Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895943</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)&#10;Click for more information.">C4225229</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/895943">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_902479"><div><strong>VATER association</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902479</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)&#10;Click for more information.">C4225671</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">VATER is a mnemonically useful acronym for the nonrandom association of vertebral defects (V), anal atresia (A), tracheoesophageal fistula with esophageal atresia (TE), and radial or renal dysplasia (R). This combination of associated defects was pointed out by Quan and Smith (1972). Nearly all cases have been sporadic.&#13; VACTERL is an acronym for an expanded definition of the association that includes cardiac malformations (C) and limb anomalies (L). The VACTERL association is a spectrum of various combinations of its 6 components, which can be a manifestation of several recognized disorders rather than a distinct anatomic or etiologic entity (Khoury et al., 1983).&#13; Also see VATER/VACTERL association with hydrocephalus (VACTERL-H; 276950) and VACTERL with or without hydrocephalus (VACTERLX; 314390).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/902479">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1684757"><div><strong>Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684757</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)&#10;Click for more information.">C5231470</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with nonspecific brain abnormalities is a highly variable syndrome characterized by impaired intellectual development and behavioral abnormalities associated with structural changes on brain imaging. Some patients have seizures, hypotonia, and scoliosis/kyphosis. Cognitive function ranges from severely impaired to the ability to attend schools with special assistance (summary by Fischer-Zirnsak et al., 2019).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1684757">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1846017"><div><strong>Hoxha-Aliu syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1846017</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)&#10;Click for more information.">C5882736</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hoxha-Aliu syndrome (HXAL) is characterized by mildly impaired intellectual development and digital anomalies of the hands and feet (Hoxha and Aliu, 2023; Guo et al., 2023).&#13; Biallelic missense mutations in the ERI1 gene have been reported to cause a more severe bone disorder, spondyloepimetaphyseal dysplasia, Guo-Campeau type (SEMDGC; 620663).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1846017">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_400262" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acropectorovertebral dysplasia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Baller-Gerold syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395189" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chondrodysplasia Blomstrand type</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (17)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336901" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group B</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_1846017" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hoxha-Aliu 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_324959" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mesomelia-synostoses syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_906140" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly, short stature, and impaired glucose metabolism 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684757" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_895943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome</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_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_902479" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">VATER association</a></div></span></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/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/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=(abnormal%20vertebral%20morphology)%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 (312)</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/31888956">Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ren X,
Yang N,
Wu N,
Xu X,
Chen W,
Zhang L,
Li Y,
Du RQ,
Dong S,
Zhao S,
Chen S,
Jiang LP,
Wang L,
Zhang J,
Wu Z,
Jin L,
Qiu G,
Lupski JR,
Shi J,
Zhang F,
Liu P</span><br />
<span class="medgenPMjournal">J Med Genet</span>
2020 Jun;57(6):371-379.
Epub 2019 Dec 30
doi: 10.1136/jmedgenet-2019-106333.
<span class="bold">PMID: </span><a href="/pubmed/31888956" target="_blank">31888956</a><a href="/pmc/articles/PMC9179029" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30562369">Late vertebral side effects in long-term survivors of irradiated childhood brain tumor.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jussila MP,
Remes T,
Anttonen J,
Harila-Saari A,
Niinimäki J,
Pokka T,
Koskenkorva P,
Sutela A,
Toiviainen-Salo S,
Arikoski P,
Riikonen P,
Arola M,
Lähteenmäki P,
Sirkiä K,
Rantala H,
Suo-Palosaari M,
Ojaniemi M</span><br />
<span class="medgenPMjournal">PLoS One</span>
2018;13(12):e0209193.
Epub 2018 Dec 18
doi: 10.1371/journal.pone.0209193.
<span class="bold">PMID: </span><a href="/pubmed/30562369" target="_blank">30562369</a><a href="/pmc/articles/PMC6298650" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20160615">Atlantoaxial rotatory fixation in the setting of associated congenital malformations: a modified classification system.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Samartzis D,
Shen FH,
Herman J,
Mardjetko SM</span><br />
<span class="medgenPMjournal">Spine (Phila Pa 1976)</span>
2010 Feb 15;35(4):E119-27.
doi: 10.1097/BRS.0b013e3181c9f957.
<span class="bold">PMID: </span><a href="/pubmed/20160615" target="_blank">20160615</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16931342">Nonprogression of vertebral area or bone mineral content on DXA does not predict compression fractures.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Morgan SL,
Lopez-Ben R,
Nunnally N,
Burroughs L,
Desmond R</span><br />
<span class="medgenPMjournal">J Clin Densitom</span>
2006 Jul-Sep;9(3):261-4.
doi: 10.1016/j.jocd.2006.05.011.
<span class="bold">PMID: </span><a href="/pubmed/16931342" target="_blank">16931342</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20vertebral%20morphology%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/20160615">Atlantoaxial rotatory fixation in the setting of associated congenital malformations: a modified classification system.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Samartzis D,
Shen FH,
Herman J,
Mardjetko SM</span><br />
<span class="medgenPMjournal">Spine (Phila Pa 1976)</span>
2010 Feb 15;35(4):E119-27.
doi: 10.1097/BRS.0b013e3181c9f957.
<span class="bold">PMID: </span><a href="/pubmed/20160615" target="_blank">20160615</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20vertebral%20morphology%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 (1)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/30562369">Late vertebral side effects in long-term survivors of irradiated childhood brain tumor.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jussila MP,
Remes T,
Anttonen J,
Harila-Saari A,
Niinimäki J,
Pokka T,
Koskenkorva P,
Sutela A,
Toiviainen-Salo S,
Arikoski P,
Riikonen P,
Arola M,
Lähteenmäki P,
Sirkiä K,
Rantala H,
Suo-Palosaari M,
Ojaniemi M</span><br />
<span class="medgenPMjournal">PLoS One</span>
2018;13(12):e0209193.
Epub 2018 Dec 18
doi: 10.1371/journal.pone.0209193.
<span class="bold">PMID: </span><a href="/pubmed/30562369" target="_blank">30562369</a><a href="/pmc/articles/PMC6298650" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20160615">Atlantoaxial rotatory fixation in the setting of associated congenital malformations: a modified classification system.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Samartzis D,
Shen FH,
Herman J,
Mardjetko SM</span><br />
<span class="medgenPMjournal">Spine (Phila Pa 1976)</span>
2010 Feb 15;35(4):E119-27.
doi: 10.1097/BRS.0b013e3181c9f957.
<span class="bold">PMID: </span><a href="/pubmed/20160615" target="_blank">20160615</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17309121">Bone health and growth in glucocorticoid-treated patients with juvenile idiopathic arthritis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Valta H,
Lahdenne P,
Jalanko H,
Aalto K,
Mäkitie O</span><br />
<span class="medgenPMjournal">J Rheumatol</span>
2007 Apr;34(4):831-6.
Epub 2007 Feb 15
<span class="bold">PMID: </span><a href="/pubmed/17309121" target="_blank">17309121</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20vertebral%20morphology%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/16931342">Nonprogression of vertebral area or bone mineral content on DXA does not predict compression fractures.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Morgan SL,
Lopez-Ben R,
Nunnally N,
Burroughs L,
Desmond R</span><br />
<span class="medgenPMjournal">J Clin Densitom</span>
2006 Jul-Sep;9(3):261-4.
doi: 10.1016/j.jocd.2006.05.011.
<span class="bold">PMID: </span><a href="/pubmed/16931342" target="_blank">16931342</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20vertebral%20morphology%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 (1)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/31888956">Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ren X,
Yang N,
Wu N,
Xu X,
Chen W,
Zhang L,
Li Y,
Du RQ,
Dong S,
Zhao S,
Chen S,
Jiang LP,
Wang L,
Zhang J,
Wu Z,
Jin L,
Qiu G,
Lupski JR,
Shi J,
Zhang F,
Liu P</span><br />
<span class="medgenPMjournal">J Med Genet</span>
2020 Jun;57(6):371-379.
Epub 2019 Dec 30
doi: 10.1136/jmedgenet-2019-106333.
<span class="bold">PMID: </span><a href="/pubmed/31888956" target="_blank">31888956</a><a href="/pmc/articles/PMC9179029" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17309121">Bone health and growth in glucocorticoid-treated patients with juvenile idiopathic arthritis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Valta H,
Lahdenne P,
Jalanko H,
Aalto K,
Mäkitie O</span><br />
<span class="medgenPMjournal">J Rheumatol</span>
2007 Apr;34(4):831-6.
Epub 2007 Feb 15
<span class="bold">PMID: </span><a href="/pubmed/17309121" target="_blank">17309121</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16931342">Nonprogression of vertebral area or bone mineral content on DXA does not predict compression fractures.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Morgan SL,
Lopez-Ben R,
Nunnally N,
Burroughs L,
Desmond R</span><br />
<span class="medgenPMjournal">J Clin Densitom</span>
2006 Jul-Sep;9(3):261-4.
doi: 10.1016/j.jocd.2006.05.011.
<span class="bold">PMID: </span><a href="/pubmed/16931342" target="_blank">16931342</a></div>
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