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<meta name="keywords" content="C0265343, autosomal recessive spondylocostal dysostosis, costovertebral dysplasia, disease or syndrome, hes7, jarcho-levin syndrome, lfng, mesp2, scd, scdo, scdo1, scdo1 spondylocostal dysostosis 1, spondylocostal dysostosis, spondylocostal dysostosis 1, autosomal recessive, spondylocostal dysplasia, spondylothoracic dysostosis, spondylothoracic dysplasia, 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="Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs, is characterized clinically by a short trunk in proportion to height; short neck; and non-progressive mild scoliosis in most affected individuals – rarely, more significant scoliosis occurs. Respiratory function in neonates with severe disease may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development. In severely affected individuals with restricted pulmonary capacity, there is a possibility that pulmonary hypertension may eventually impact cardiac function. Males with SCDO appear to be at increased risk for inguinal hernia." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Spondylocostal dysostosis (Concept Id: C0265343)
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UID=82707
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<!--imgCountBooks = 15--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (15)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK8828/bin/spondylocostal-d-Image004.gif" src-large="/books/NBK8828/bin/spondylocostal-d-Image004.jpg" /></a><br /><a href="/books/NBK8828/figure/spondylocostal-d.F4/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK8828/bin/spondylocostal-d-Image010.gif" src-large="/books/NBK8828/bin/spondylocostal-d-Image010.jpg" /></a><br /><a href="/books/NBK8828/figure/spondylocostal-d.F10/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK8828/bin/spondylocostal-d-Image008.gif" src-large="/books/NBK8828/bin/spondylocostal-d-Image008.jpg" /></a><br /><a href="/books/NBK8828/figure/spondylocostal-d.F8/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK8828/bin/spondylocostal-d-Image012.gif" src-large="/books/NBK8828/bin/spondylocostal-d-Image012.jpg" /></a><br /><a href="/books/NBK8828/figure/spondylocostal-d.F12/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK8828/bin/spondylocostal-d-Image002.gif" src-large="/books/NBK8828/bin/spondylocostal-d-Image002.jpg" /></a><br /><a href="/books/NBK8828/figure/spondylocostal-d.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK8828/bin/spondylocostal-d-Image007.gif" src-large="/books/NBK8828/bin/spondylocostal-d-Image007.jpg" /></a><br /><a href="/books/NBK8828/figure/spondylocostal-d.F7/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK8828/bin/spondylocostal-d-Image015.gif" src-large="/books/NBK8828/bin/spondylocostal-d-Image015.jpg" /></a><br /><a href="/books/NBK8828/figure/spondylocostal-d.F15/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK8828/bin/spondylocostal-d-Image014.gif" src-large="/books/NBK8828/bin/spondylocostal-d-Image014.jpg" /></a><br /><a href="/books/NBK8828/figure/spondylocostal-d.F14/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK8828/bin/spondylocostal-d-Image001.gif" src-large="/books/NBK8828/bin/spondylocostal-d-Image001.jpg" /></a><br /><a href="/books/NBK8828/figure/spondylocostal-d.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK8828/bin/spondylocostal-d-Image005.gif" src-large="/books/NBK8828/bin/spondylocostal-d-Image005.jpg" /></a><br /><a href="/books/NBK8828/figure/spondylocostal-d.F5/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK8828/bin/spondylocostal-d-Image006.gif" src-large="/books/NBK8828/bin/spondylocostal-d-Image006.jpg" /></a><br /><a href="/books/NBK8828/figure/spondylocostal-d.F6/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK8828/bin/spondylocostal-d-Image011.gif" src-large="/books/NBK8828/bin/spondylocostal-d-Image011.jpg" /></a><br /><a href="/books/NBK8828/figure/spondylocostal-d.F11/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK8828/bin/spondylocostal-d-Image003.gif" src-large="/books/NBK8828/bin/spondylocostal-d-Image003.jpg" /></a><br /><a href="/books/NBK8828/figure/spondylocostal-d.F3/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK8828/bin/spondylocostal-d-Image013.gif" src-large="/books/NBK8828/bin/spondylocostal-d-Image013.jpg" /></a><br /><a href="/books/NBK8828/figure/spondylocostal-d.F13/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK8828/bin/spondylocostal-d-Image009.gif" src-large="/books/NBK8828/bin/spondylocostal-d-Image009.jpg" /></a><br /><a href="/books/NBK8828/figure/spondylocostal-d.F9/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Spondylocostal dysostosis<span class="h1sub">(SCDO1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82707</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.">C0265343</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Costovertebral dysplasia; Jarcho-Levin syndrome; Spondylothoracic dysplasia</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Jarcho-Levin syndrome (61367005); Spondylothoracic dysplasia (61367005); Autosomal recessive spondylocostal dysostosis (61367005)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Genes (locations):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
Gene(s) directly associated with<br />
this condition or phenotype.</div></td>
<td><a target="_blank" title="HES7 - ID: 84667 - NCBI Gene" href="/gene/84667" class="medgenPMinfo">HES7</a> (17p13.1); <a target="_blank" title="LFNG - ID: 3955 - NCBI Gene" href="/gene/3955" class="medgenPMinfo">LFNG</a> (7p22.3); <a target="_blank" title="MESP2 - ID: 145873 - NCBI Gene" href="/gene/145873" class="medgenPMinfo">MESP2</a> (15q26.1)</td></tr>
<tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
Gene(s) associated with related conditions. For conditions<br />
in a hierarchy, the parent condition will list the genes<br />
associated with the children conditions.</div></td>
<td><a target="_blank" href="/gene/10683">DLL3</a>, <a target="_blank" href="/gene/6911">TBX6</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0000359" target="_blank">MONDO:0000359</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/277300" target="_blank">277300</a>; <a href="https://omim.org/entry/602768" target="_blank">602768</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
<td><a href="https://omim.org/phenotypicSeries/PS277300" target="_blank">PS277300</a></td></tr>
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_101">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK8828" target="_blank">Spondylocostal Dysostosis, Autosomal Recessive</a></div><div>Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs, is characterized clinically by a short trunk in proportion to height; short neck; and non-progressive mild scoliosis in most affected individuals – rarely, more significant scoliosis occurs. Respiratory function in neonates with severe disease may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development. In severely affected individuals with restricted pulmonary capacity, there is a possibility that pulmonary hypertension may eventually impact cardiac function. Males with SCDO appear to be at increased risk for inguinal hernia. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK8828#spondylocostal-d.Summary" target="NBK8828">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK8828#spondylocostal-d.Diagnosis" target="NBK8828">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK8828#spondylocostal-d.Clinical_Characteristic" target="NBK8828">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK8828#spondylocostal-d.Genetically_Related_All" target="NBK8828">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK8828#spondylocostal-d.Differential_Diagnosis" target="NBK8828">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK8828#spondylocostal-d.Management" target="NBK8828">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK8828#spondylocostal-d.Genetic_Counseling" target="NBK8828">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK8828#spondylocostal-d.Resources" target="NBK8828">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK8828#spondylocostal-d.Molecular_Genetics" target="NBK8828">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK8828#spondylocostal-d.Chapter_Notes" target="NBK8828">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK8828#spondylocostal-d.References" target="NBK8828">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Peter D Turnpenny  |  Melissa Sloman  |  Sally Dunwoodie   <a href="/books/NBK8828" target="NBK8828" title="NCBI Bookshelf: Spondylocostal Dysostosis, Autosomal Recessive">view full author information</a></div></div>
</div>
<div class="portlet mgSection" id="ID_117">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Spondylocostal dysostosis is a group of conditions characterized by abnormal development of bones in the spine and ribs. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). Many people with this condition have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae. In addition to spinal abnormalities, some of the rib bones may be fused together or missing. Affected individuals have short, rigid necks and short torsos because of the bone malformations. As a result, people with spondylocostal dysostosis have short bodies but normal-length arms and legs, called short-trunk dwarfism.<br /><br />The spine and rib abnormalities, which are present from birth, cause other signs and symptoms of spondylocostal dysostosis. Infants with this condition have small chests that cannot expand adequately, often leading to life-threatening breathing problems. As the lungs expand in the narrow chest, the muscle that separates the abdomen from the chest cavity (the diaphragm) is forced down and the abdomen is pushed out. The increased pressure in the abdomen can cause a soft out-pouching around the lower abdomen (inguinal hernia), particularly in males with spondylocostal dysostosis.<br /><br />Some people with spondylocostal dysostosis also have a type of birth defect known as a neural tube defect. Neural tube defects occur when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Examples of neural tube defects that occur in people with spondylocostal dysostosis include a spinal cord abnormality known as spina bifida and a brain abnormality called a Chiari malformation.<br /><br />Although breathing problems can be fatal early in life, many affected individuals live into adulthood.<br /><br />Spondylocostal dysostosis has often been grouped with a similar condition called spondylothoracic dysostosis, and both are sometimes called Jarcho-Levin syndrome; however, they are now considered distinct conditions.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/spondylocostal-dysostosis">https://medlineplus.gov/genetics/condition/spondylocostal-dysostosis</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Spondylothoracic dysostosis is a condition characterized by malformation of the bones of the spine and ribs. The bones of the spine (vertebrae) do not develop properly, which causes them to be misshapen and abnormally joined together (fused). The ribs are also fused at the part nearest the spine (posteriorly), which gives the rib cage its characteristic fan-like or "crab" appearance in x-rays. Affected individuals have short, rigid necks and short torsos because of the bone malformations. As a result, people with spondylothoracic dysostosis have short bodies but normal-length arms and legs, called short-trunk dwarfism.<br /><br />The spine and rib abnormalities, which are present from birth, cause other signs and symptoms of spondylothoracic dysostosis. Infants with this condition have small chests that cannot expand adequately, often leading to life-threatening breathing problems. As the lungs expand in the narrow chest, the muscle that separates the abdomen from the chest cavity (the diaphragm) is forced down and the abdomen is pushed out. The increased pressure in the abdomen can cause a soft out-pouching around the lower abdomen (inguinal hernia) or belly-button (umbilical hernia).<br /><br />Breathing problems can be fatal early in life; however, some affected individuals live into adulthood.<br /><br />Spondylothoracic dysostosis is sometimes called spondylocostal dysostosis, a similar condition with abnormalities of the spine and ribs. The two conditions have been grouped in the past, and both are sometimes referred to as Jarcho-Levin syndrome; however, they are now considered distinct conditions.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/spondylothoracic-dysostosis">https://medlineplus.gov/genetics/condition/spondylothoracic-dysostosis</a></div></div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_2530"><div><strong>Back pain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2530</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.">C0004604</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2530">Feature record</a> | <a href="/medgen?term=%22Back%20pain%22%5BClinical%20Features%5D%20OR%202530%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_3931"><div><strong>Severe short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3931</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.">C0013336</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3931">Feature record</a> | <a href="/medgen?term=%22Severe%20short%20stature%22%5BClinical%20Features%5D%20OR%203931%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</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.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_34"><div><strong>Abdominal distention</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>34</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.">C0000731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Distention of the abdomen.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/34">Feature record</a> | <a href="/medgen?term=%22Abdominal%20distention%22%5BClinical%20Features%5D%20OR%2034%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_340750"><div><strong>Protuberant abdomen</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340750</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.">C1854928</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A thrusting or bulging out of the abdomen.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/340750">Feature record</a> | <a href="/medgen?term=%22Protuberant%20abdomen%22%5BClinical%20Features%5D%20OR%20340750%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_82720"><div><strong>Hemivertebrae</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82720</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0265677</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Absence of one half of the vertebral body.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/82720">Feature record</a> | <a href="/medgen?term=%22Hemivertebrae%22%5BClinical%20Features%5D%20OR%2082720%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_78570"><div><strong>Rib fusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78570</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.">C0265695</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Complete or partial merging of adjacent ribs.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/78570">Feature record</a> | <a href="/medgen?term=%22Rib%20fusion%22%5BClinical%20Features%5D%20OR%2078570%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_96577"><div><strong>Vertebral segmentation defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96577</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.">C0432163</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">An abnormality related to a defect of vertebral separation during development.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/96577">Feature record</a> | <a href="/medgen?term=%22Vertebral%20segmentation%20defect%22%5BClinical%20Features%5D%20OR%2096577%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_154361"><div><strong>Kyphoscoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154361</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.">C0575158</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/154361">Feature record</a> | <a href="/medgen?term=%22Kyphoscoliosis%22%5BClinical%20Features%5D%20OR%20154361%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_375498"><div><strong>Block vertebrae</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375498</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.">C1844753</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/375498">Feature record</a> | <a href="/medgen?term=%22Block%20vertebrae%22%5BClinical%20Features%5D%20OR%20375498%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_337580"><div><strong>Disproportionate short-trunk short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337580</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.">C1846435</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/337580">Feature record</a> | <a href="/medgen?term=%22Disproportionate%20short-trunk%20short%20stature%22%5BClinical%20Features%5D%20OR%20337580%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_351218"><div><strong>Abnormal odontoid process morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351218</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.">C1864794</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/351218">Feature record</a> | <a href="/medgen?term=%22Abnormal%20odontoid%20process%20morphology%22%5BClinical%20Features%5D%20OR%20351218%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_480139"><div><strong>Vertebral fusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480139</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.">C3278509</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A developmental defect leading to the union of two adjacent vertebrae.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/480139">Feature record</a> | <a href="/medgen?term=%22Vertebral%20fusion%22%5BClinical%20Features%5D%20OR%20480139%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1863583"><div><strong>Rib spur</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1863583</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.">C5937400</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A bony projection (spur, osteophyte) originating from a rib.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1863583">Feature record</a> | <a href="/medgen?term=%22Rib%20spur%22%5BClinical%20Features%5D%20OR%201863583%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_812812"><div><strong>Recurrent respiratory infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812812</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.">C3806482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/812812">Feature record</a> | <a href="/medgen?term=%22Recurrent%20respiratory%20infections%22%5BClinical%20Features%5D%20OR%20812812%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_60195"><div><strong>Cystic hygroma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>60195</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.">C0206620</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">A cystic lymphatic lesion of the neck.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/60195">Feature record</a> | <a href="/medgen?term=%22Cystic%20hygroma%22%5BClinical%20Features%5D%20OR%2060195%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_99267"><div><strong>Short neck</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99267</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.">C0521525</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Diminished length of the neck.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/99267">Feature record</a> | <a href="/medgen?term=%22Short%20neck%22%5BClinical%20Features%5D%20OR%2099267%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_60195" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cystic hygroma</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99267" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short neck</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_34" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abdominal distention</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340750" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Protuberant abdomen</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_351218" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal odontoid process morphology</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_375498" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Block vertebrae</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_337580" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Disproportionate short-trunk short stature</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82720" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemivertebrae</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_154361" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kyphoscoliosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78570" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rib fusion</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1863583" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rib spur</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_480139" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertebral fusion</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96577" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertebral segmentation defect</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_812812" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent respiratory infections</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2530" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Back pain</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3931" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe short stature</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0265343[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=82707">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82707" target="_blank" href="/omim/277300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK8828/" ref="ncbi_uid=82707">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=82707" ref="ncbi_uid=82707">V</a></span></span><span class="TLline">Spondylocostal dysostosis</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN043670[DISCUI]&amp;test_type=Clinical&amp;redirect=true" ref="ncbi_uid=834047">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK8828/" ref="ncbi_uid=834047">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/834047" ref="tree=GTR&amp;ncbi_uid=834047&amp;link_uid=834047" title="View MedGen record for 'Autosomal recessive spondylocostal dysostosis'">Autosomal recessive spondylocostal dysostosis</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN032975[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=834049">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK8828/" ref="ncbi_uid=834049">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=834049" ref="ncbi_uid=834049">V</a></span></span><span class="TLline"><a href="/medgen/834049" ref="tree=GTR&amp;ncbi_uid=834049&amp;link_uid=834049" title="View MedGen record for 'Spondylocostal dysostosis 1, autosomal recessive'">Spondylocostal dysostosis 1, autosomal recessive</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837549[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=332481">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=332481" target="_blank" href="/omim/605195">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK8828/" ref="ncbi_uid=332481">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=332481" ref="ncbi_uid=332481">V</a></span></span><span class="TLline"><a href="/medgen/332481" ref="tree=GTR&amp;ncbi_uid=332481&amp;link_uid=332481" title="View MedGen record for 'Spondylocostal dysostosis 2, autosomal recessive'">Spondylocostal dysostosis 2, autosomal recessive</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853296[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=377871">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=377871" target="_blank" href="/omim/602576">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK8828/" ref="ncbi_uid=377871">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=377871" ref="ncbi_uid=377871">V</a></span></span><span class="TLline"><a href="/medgen/377871" ref="tree=GTR&amp;ncbi_uid=377871&amp;link_uid=377871" title="View MedGen record for 'Spondylocostal dysostosis 3, autosomal recessive'">Spondylocostal dysostosis 3, autosomal recessive</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150942[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=462292">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462292" target="_blank" href="/omim/613686">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK8828/" ref="ncbi_uid=462292">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=462292" ref="ncbi_uid=462292">V</a></span></span><span class="TLline"><a href="/medgen/462292" ref="tree=GTR&amp;ncbi_uid=462292&amp;link_uid=462292" title="View MedGen record for 'Spondylocostal dysostosis 4, autosomal recessive'">Spondylocostal dysostosis 4, autosomal recessive</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4083048[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=901825">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=901825" target="_blank" href="/omim/122600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK8828/" ref="ncbi_uid=901825">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=901825" ref="ncbi_uid=901825">V</a></span></span><span class="TLline"><a href="/medgen/901825" ref="tree=GTR&amp;ncbi_uid=901825&amp;link_uid=901825" title="View MedGen record for 'Spondylocostal dysostosis 5'">Spondylocostal dysostosis 5</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/272508" ref="tree=MeSH" title="MedGen record for Connective and Soft Tissue Disorder">Connective and Soft Tissue Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/6471" ref="tree=MeSH" title="MedGen record for Musculoskeletal system disorder">Musculoskeletal system disorder</a></span><ul><li><span class="TLline"><a href="/medgen/14182" ref="tree=MeSH" title="MedGen record for Disorder of bone">Disorder of bone</a></span><ul><li><span class="TLline"><a href="/medgen/2309" ref="tree=MeSH" title="MedGen record for Bone development disease">Bone development disease</a></span><ul><li><span class="TLline"><a href="/medgen/4430" ref="tree=MeSH" title="MedGen record for Dysostosis">Dysostosis</a></span><ul><li><span class="matched_ds">Spondylocostal dysostosis</span><ul><li><span class="TLline"><a href="/medgen/834047" ref="tree=MeSH" title="MedGen record for Autosomal recessive spondylocostal dysostosis">Autosomal recessive spondylocostal dysostosis</a></span><ul><li><span class="TLline"><a href="/medgen/834049" ref="tree=MeSH" title="MedGen record for Spondylocostal dysostosis 1, autosomal recessive">Spondylocostal dysostosis 1, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/332481" ref="tree=MeSH" title="MedGen record for Spondylocostal dysostosis 2, autosomal recessive">Spondylocostal dysostosis 2, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/377871" ref="tree=MeSH" title="MedGen record for Spondylocostal dysostosis 3, autosomal recessive">Spondylocostal dysostosis 3, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/462292" ref="tree=MeSH" title="MedGen record for Spondylocostal dysostosis 4, autosomal recessive">Spondylocostal dysostosis 4, autosomal recessive</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/901825" ref="tree=MeSH" title="MedGen record for Spondylocostal dysostosis 5">Spondylocostal dysostosis 5</a></span></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_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/38369333">Early prenatal diagnosis of spondylocostal dysostosis caused by a novel variant in MESP2.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou Y,
Chen G,
Li F,
Huang L,
Han J</span><br />
<span class="medgenPMjournal">Congenit Anom (Kyoto)</span>
2024 Mar;64(2):61-62.
Epub 2024 Feb 18
doi: 10.1111/cga.12554.
<span class="bold">PMID: </span><a href="/pubmed/38369333" target="_blank">38369333</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25434647">Chest wall hypoplasia--principles and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mayer OH</span><br />
<span class="medgenPMjournal">Paediatr Respir Rev</span>
2015 Jan;16(1):30-4.
Epub 2014 Nov 5
doi: 10.1016/j.prrv.2014.10.012.
<span class="bold">PMID: </span><a href="/pubmed/25434647" target="_blank">25434647</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22spondylocostal%20dysostosis%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</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/36161696">TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Li G,
Strong A,
Wang H,
Kim JS,
Watson D,
Zhao S,
Vaccaro C,
Hartung E,
Hakonarson H,
Zhang TJ,
Giampietro PF,
Wu N</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2022 Dec;188(12):3469-3481.
Epub 2022 Sep 26
doi: 10.1002/ajmg.a.62972.
<span class="bold">PMID: </span><a href="/pubmed/36161696" target="_blank">36161696</a><a href="/pmc/articles/PMC10473889" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31461642">An In Vitro Human Segmentation Clock Model Derived from Embryonic Stem Cells.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chu LF,
Mamott D,
Ni Z,
Bacher R,
Liu C,
Swanson S,
Kendziorski C,
Stewart R,
Thomson JA</span><br />
<span class="medgenPMjournal">Cell Rep</span>
2019 Aug 27;28(9):2247-2255.e5.
doi: 10.1016/j.celrep.2019.07.090.
<span class="bold">PMID: </span><a href="/pubmed/31461642" target="_blank">31461642</a><a href="/pmc/articles/PMC6814198" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30531807">Identification of novel LFNG mutations in spondylocostal dysostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Otomo N,
Mizumoto S,
Lu HF,
Takeda K,
Campos-Xavier B,
Mittaz-Crettol L,
Guo L,
Takikawa K,
Nakamura M,
Yamada S,
Matsumoto M,
Watanabe K,
Ikegawa S</span><br />
<span class="medgenPMjournal">J Hum Genet</span>
2019 Mar;64(3):261-264.
Epub 2018 Dec 10
doi: 10.1038/s10038-018-0548-2.
<span class="bold">PMID: </span><a href="/pubmed/30531807" target="_blank">30531807</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16385447">Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sparrow DB,
Chapman G,
Wouters MA,
Whittock NV,
Ellard S,
Fatkin D,
Turnpenny PD,
Kusumi K,
Sillence D,
Dunwoodie SL</span><br />
<span class="medgenPMjournal">Am J Hum Genet</span>
2006 Jan;78(1):28-37.
Epub 2005 Nov 16
doi: 10.1086/498879.
<span class="bold">PMID: </span><a href="/pubmed/16385447" target="_blank">16385447</a><a href="/pmc/articles/PMC1380221" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15223937">Spondylocostal dysostosis: thirteen new cases treated by conservative and surgical means.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Teli M,
Hosalkar H,
Gill I,
Noordeen H</span><br />
<span class="medgenPMjournal">Spine (Phila Pa 1976)</span>
2004 Jul 1;29(13):1447-51.
doi: 10.1097/01.brs.0000128761.72844.ab.
<span class="bold">PMID: </span><a href="/pubmed/15223937" target="_blank">15223937</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spondylocostal%20dysostosis%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 (35)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38369333">Early prenatal diagnosis of spondylocostal dysostosis caused by a novel variant in MESP2.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou Y,
Chen G,
Li F,
Huang L,
Han J</span><br />
<span class="medgenPMjournal">Congenit Anom (Kyoto)</span>
2024 Mar;64(2):61-62.
Epub 2024 Feb 18
doi: 10.1111/cga.12554.
<span class="bold">PMID: </span><a href="/pubmed/38369333" target="_blank">38369333</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36513140">The role of Notch signaling pathway in metabolic bone diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gao Y,
Fu Z,
Guan J,
Liu X,
Zhang Q</span><br />
<span class="medgenPMjournal">Biochem Pharmacol</span>
2023 Jan;207:115377.
Epub 2022 Dec 10
doi: 10.1016/j.bcp.2022.115377.
<span class="bold">PMID: </span><a href="/pubmed/36513140" target="_blank">36513140</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25434647">Chest wall hypoplasia--principles and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mayer OH</span><br />
<span class="medgenPMjournal">Paediatr Respir Rev</span>
2015 Jan;16(1):30-4.
Epub 2014 Nov 5
doi: 10.1016/j.prrv.2014.10.012.
<span class="bold">PMID: </span><a href="/pubmed/25434647" target="_blank">25434647</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22052723">Genetic and clinical profiles of spondylocostal dysostosis patients in Taiwan.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang CH,
Lin WD,
Bau DT,
Chou IC,
Tsai FJ</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2011 Dec;155A(12):3132-5.
Epub 2011 Nov 3
doi: 10.1002/ajmg.a.34301.
<span class="bold">PMID: </span><a href="/pubmed/22052723" target="_blank">22052723</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2070546">Familial Jarcho-Levin syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Romeo MG,
Distefano G,
Di Bella D,
Mangiagli A,
Caltabiano L,
Roccaro S,
Mollica F</span><br />
<span class="medgenPMjournal">Clin Genet</span>
1991 Apr;39(4):253-9.
doi: 10.1111/j.1399-0004.1991.tb03023.x.
<span class="bold">PMID: </span><a href="/pubmed/2070546" target="_blank">2070546</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spondylocostal%20dysostosis%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 (50)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/34107132">Delta-like canonical Notch ligand 3 as a potential therapeutic target in malignancies: A brief overview.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Matsuo K,
Taniguchi K,
Hamamoto H,
Inomata Y,
Komura K,
Tanaka T,
Lee SW,
Uchiyama K</span><br />
<span class="medgenPMjournal">Cancer Sci</span>
2021 Aug;112(8):2984-2992.
Epub 2021 Jun 30
doi: 10.1111/cas.15017.
<span class="bold">PMID: </span><a href="/pubmed/34107132" target="_blank">34107132</a><a href="/pmc/articles/PMC8353941" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33089894">High-flow nasal cannula therapy in a case of spondylocostal dysostosis type 2.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yamada S,
Furuse Y,
Ikeda M,
Onda T,
Cho K</span><br />
<span class="medgenPMjournal">Pediatr Int</span>
2020 Nov;62(11):1289-1290.
Epub 2020 Oct 22
doi: 10.1111/ped.14317.
<span class="bold">PMID: </span><a href="/pubmed/33089894" target="_blank">33089894</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25659135">Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Willet CE,
Makara M,
Reppas G,
Tsoukalas G,
Malik R,
Haase B,
Wade CM</span><br />
<span class="medgenPMjournal">PLoS One</span>
2015;10(2):e0117055.
Epub 2015 Feb 6
doi: 10.1371/journal.pone.0117055.
<span class="bold">PMID: </span><a href="/pubmed/25659135" target="_blank">25659135</a><a href="/pmc/articles/PMC4319916" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23897666">Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sparrow DB,
Faqeih EA,
Sallout B,
Alswaid A,
Ababneh F,
Al-Sayed M,
Rukban H,
Eyaid WM,
Kageyama R,
Ellard S,
Turnpenny PD,
Dunwoodie SL</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2013 Sep;161A(9):2244-9.
Epub 2013 Jul 29
doi: 10.1002/ajmg.a.36073.
<span class="bold">PMID: </span><a href="/pubmed/23897666" target="_blank">23897666</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16080946">Thoracoplasty for treatment of asphyxiating thoracic dysplasia in a newborn.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fette A,
Rokitansky A</span><br />
<span class="medgenPMjournal">J Pediatr Surg</span>
2005 Aug;40(8):1345-8.
doi: 10.1016/j.jpedsurg.2005.05.033.
<span class="bold">PMID: </span><a href="/pubmed/16080946" target="_blank">16080946</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spondylocostal%20dysostosis%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 (6)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/30531807">Identification of novel LFNG mutations in spondylocostal dysostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Otomo N,
Mizumoto S,
Lu HF,
Takeda K,
Campos-Xavier B,
Mittaz-Crettol L,
Guo L,
Takikawa K,
Nakamura M,
Yamada S,
Matsumoto M,
Watanabe K,
Ikegawa S</span><br />
<span class="medgenPMjournal">J Hum Genet</span>
2019 Mar;64(3):261-264.
Epub 2018 Dec 10
doi: 10.1038/s10038-018-0548-2.
<span class="bold">PMID: </span><a href="/pubmed/30531807" target="_blank">30531807</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18388793">Spondylocostal dysostosis associated with diaphragmatic hernia and neural tube defects.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Çetinkaya M,
Özkan H,
Köksal N,
Yazıcı Z,
Yalçınkaya U</span><br />
<span class="medgenPMjournal">Clin Dysmorphol</span>
2008 Apr;17(2):151-154.
doi: 10.1097/MCD.0b013e3282f2699c.
<span class="bold">PMID: </span><a href="/pubmed/18388793" target="_blank">18388793</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15490911">Jarcho-Levin syndrome: a case study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ables P</span><br />
<span class="medgenPMjournal">Neonatal Netw</span>
2004 Sep-Oct;23(5):9-21.
doi: 10.1891/0730-0832.23.5.9.
<span class="bold">PMID: </span><a href="/pubmed/15490911" target="_blank">15490911</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15223937">Spondylocostal dysostosis: thirteen new cases treated by conservative and surgical means.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Teli M,
Hosalkar H,
Gill I,
Noordeen H</span><br />
<span class="medgenPMjournal">Spine (Phila Pa 1976)</span>
2004 Jul 1;29(13):1447-51.
doi: 10.1097/01.brs.0000128761.72844.ab.
<span class="bold">PMID: </span><a href="/pubmed/15223937" target="_blank">15223937</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14631208">Controversies surrounding Jarcho-Levin syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cornier AS,
Ramirez N,
Carlo S,
Reiss A</span><br />
<span class="medgenPMjournal">Curr Opin Pediatr</span>
2003 Dec;15(6):614-20.
doi: 10.1097/00008480-200312000-00012.
<span class="bold">PMID: </span><a href="/pubmed/14631208" target="_blank">14631208</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spondylocostal%20dysostosis%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 (26)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38565611">Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang L,
Mizumoto S,
Zhang R,
Zhang Y,
Liu Y,
Cheng W,
Li X,
Dan M,
Zhang C,
Gao X,
Wang J,
Han J,
Jiao L,
Wang Y,
Jin Q,
Yang L,
Li C,
Li S,
Zhu J,
Jiang H,
Nishimura G,
Yamada T,
Yamada S,
Cai N,
Qiang R,
Guo L</span><br />
<span class="medgenPMjournal">J Hum Genet</span>
2024 Jul;69(7):321-327.
Epub 2024 Apr 2
doi: 10.1038/s10038-024-01248-3.
<span class="bold">PMID: </span><a href="/pubmed/38565611" target="_blank">38565611</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32238941">Recapitulating the human segmentation clock with pluripotent stem cells.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Matsuda M,
Yamanaka Y,
Uemura M,
Osawa M,
Saito MK,
Nagahashi A,
Nishio M,
Guo L,
Ikegawa S,
Sakurai S,
Kihara S,
Maurissen TL,
Nakamura M,
Matsumoto T,
Yoshitomi H,
Ikeya M,
Kawakami N,
Yamamoto T,
Woltjen K,
Ebisuya M,
Toguchida J,
Alev C</span><br />
<span class="medgenPMjournal">Nature</span>
2020 Apr;580(7801):124-129.
Epub 2020 Apr 1
doi: 10.1038/s41586-020-2144-9.
<span class="bold">PMID: </span><a href="/pubmed/32238941" target="_blank">32238941</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27861764">Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lefebvre M,
Duffourd Y,
Jouan T,
Poe C,
Jean-Marçais N,
Verloes A,
St-Onge J,
Riviere JB,
Petit F,
Pierquin G,
Demeer B,
Callier P,
Thauvin-Robinet C,
Faivre L,
Thevenon J</span><br />
<span class="medgenPMjournal">Clin Genet</span>
2017 Jun;91(6):908-912.
Epub 2017 Feb 22
doi: 10.1111/cge.12918.
<span class="bold">PMID: </span><a href="/pubmed/27861764" target="_blank">27861764</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23443469">Sprengel's deformity and spinal dysraphism: connecting the shoulder and the spine.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">van Aalst J,
Vles JS,
Cuppen I,
Sival DA,
Niks EH,
Van Rhijn LW,
Van Steensel MA,
Cornips EM</span><br />
<span class="medgenPMjournal">Childs Nerv Syst</span>
2013 Jul;29(7):1051-8.
doi: 10.1007/s00381-013-2057-0.
<span class="bold">PMID: </span><a href="/pubmed/23443469" target="_blank">23443469</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21667129">The mouse notches up another success: understanding the causes of human vertebral malformation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sparrow DB,
Chapman G,
Dunwoodie SL</span><br />
<span class="medgenPMjournal">Mamm Genome</span>
2011 Aug;22(7-8):362-76.
Epub 2011 Jun 11
doi: 10.1007/s00335-011-9335-5.
<span class="bold">PMID: </span><a href="/pubmed/21667129" target="_blank">21667129</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spondylocostal%20dysostosis%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 (20)</a></div></div>
</div>
<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/38565611">Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang L,
Mizumoto S,
Zhang R,
Zhang Y,
Liu Y,
Cheng W,
Li X,
Dan M,
Zhang C,
Gao X,
Wang J,
Han J,
Jiao L,
Wang Y,
Jin Q,
Yang L,
Li C,
Li S,
Zhu J,
Jiang H,
Nishimura G,
Yamada T,
Yamada S,
Cai N,
Qiang R,
Guo L</span><br />
<span class="medgenPMjournal">J Hum Genet</span>
2024 Jul;69(7):321-327.
Epub 2024 Apr 2
doi: 10.1038/s10038-024-01248-3.
<span class="bold">PMID: </span><a href="/pubmed/38565611" target="_blank">38565611</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spondylocostal%20dysostosis%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 (1)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet mgSection" id="ID_113">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0265343%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (18)</a></li>
<li><a href="/gtr/tests?term=C0265343%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (20)</a></li>
<li><a href="/gtr/tests?term=C0265343%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0265343%5bDISCUI%5d" target="_blank">See all (20)</a></total></li>
</ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS277300" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Spondylocostal%20dysostosis" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22spondylocostal%20dysostosis%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">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></ul></div>
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<div class="portlet mgSection" id="ID_115">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=602576%20605195%20608059" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3955[geneid]" target="_blank">View LFNG variations in ClinVar</a></li><li><a href="/clinvar/?term=84667[geneid]" target="_blank">View HES7 variations in ClinVar</a></li><li><a href="/clinvar/?term=145873[geneid]" target="_blank">View MESP2 variations in ClinVar</a></li><li><a href="/nuccore/193211393,205277454,262527279" target="_blank">RefSeqGene</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Spondylothoracic+dysostosis/6845" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/spondylocostal_dysostosis_1_autosomal_recessive" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Spondylocostal%20dysostosis" target="_blank">MedlinePlus</a></li><li><a href="#" class="jig-ncbipopper results_settings" role="button" aria-expanded="false" aria-haspopup="true" data-jigconfig="triggerPosition : 'bottom center',destPosition : 'top center', hasArrow : false,openEvent : 'click',closeEvent : 'click',isTriggerElementCloseClick: false, addCloseButton : false, groupName: 'entrez_pg',destSelector : '#ghrPopup'">MedlinePlusGenetics (GHR)<span class="tgt_dark"></span></a></li><li><a href="https://rarediseases.info.nih.gov/diseases/12174/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul><div id="ghrPopup" aria-live="assertive" aria-hidden="true" style="display: none;" class="portlet_popup tabPopper ui-helper-reset ui-ncbipopper-wrapper ui-ncbipopper-basic"><ul class="column_list"><li><a target="_blank" href="https://medlineplus.gov/genetics/condition/spondylocostal-dysostosis">Spondylocostal dysostosis</a></li><li><a target="_blank" href="https://medlineplus.gov/genetics/condition/spondylothoracic-dysostosis">Spondylothoracic dysostosis</a></li></ul></div></div>
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<p class="address_footer text-white">National Library of Medicine<br />
<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
Bethesda, MD 20894</a></p>
</div>
<div class="col-lg-3 col-12 centered-lg">
<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
</div>
<div class="col-lg-3 col-12 centered-lg">
<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
</div>
</div>
<div class="row">
<div class="col-lg-12 centered-lg">
<nav class="bottom-links">
<ul class="mt-3">
<li>
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
</li>
<li>
<a class="text-white" href="https://www.nih.gov/">NIH</a>
</li>
<li>
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
</li>
<li>
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
</li>
</ul>
</nav>
</div>
</div>
</div>
</section>
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