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<meta name="keywords" content="C1853296, autosomal recessive spondylocostal dysostosis caused by mutation in lfng, disease or syndrome, lfng, lfng autosomal recessive spondylocostal dysostosis, lfng-related spondylocostal dysostosis, autosomal recessive, scdo3, scod3, spondylocostal dysostosis 3, spondylocostal dysostosis 3, autosomal recessive, 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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<!--
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UID=377871
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ConceptID=C1853296
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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 3, autosomal recessive<span class="h1sub">(SCDO3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377871</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1853296</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>LFNG-Related Spondylocostal Dysostosis, Autosomal Recessive; SCDO3; Spondylocostal dysostosis 3</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">Gene (location):<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="LFNG - ID: 3955 - NCBI Gene" href="/gene/3955" class="medgenPMinfo">LFNG</a> (7p22.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012349" target="_blank">MONDO:0012349</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/609813" target="_blank">609813</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>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<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>
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<div class="portlet mgSection" id="ID_102">
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<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>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<div class="divPopper rprt" id="clin_387832"><div><strong>Slender finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>387832</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1857482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/387832">Feature record</a> | <a href="/medgen?term=%22Slender%20finger%22%5BClinical%20Features%5D%20OR%20387832%5Buid%5D">Search on this feature</a></div></div>
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||
<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) Click for more information.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<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>
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||
<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>
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||
<div class="divPopper rprt" id="clin_44042"><div><strong>Kyphosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44042</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0022821</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Exaggerated anterior convexity of the thoracic vertebral column.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/44042">Feature record</a> | <a href="/medgen?term=%22Kyphosis%22%5BClinical%20Features%5D%20OR%2044042%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
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||
<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) Click for more information.">C0265695</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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||
<div class="spaceAbove">Complete or partial merging of adjacent ribs.</div>
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||
<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>
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||
<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) Click for more information.">C0432163</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">An abnormality related to a defect of vertebral separation during development.</div>
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<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>
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||
<div class="divPopper rprt" id="clin_339524"><div><strong>Odontoid hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339524</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1846439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">The odontoid process, or dens, is a bony projection from the axis (C2) upward into the ring of the atlas (C1) at the top of the spine. During embryogenesis, the body of the odontoid derives from the centrum of the atlas and separates from the atlas, fusing with the superior portion of the axis. If the odontoid is hypoplastic or absent, the attachments for the apical and alar ligaments are missing, allowing for excessive rotation of the atlas, craniocervical instability, and possibly cord compression (summary by Stevens et al., 2009).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/339524">Feature record</a> | <a href="/medgen?term=%22Odontoid%20hypoplasia%22%5BClinical%20Features%5D%20OR%20339524%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_867093"><div><strong>Contracture of the proximal interphalangeal joint of the 2nd finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867093</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4021451</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/867093">Feature record</a> | <a href="/medgen?term=%22Contracture%20of%20the%20proximal%20interphalangeal%20joint%20of%20the%202nd%20finger%22%5BClinical%20Features%5D%20OR%20867093%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870849"><div><strong>Supernumerary vertebral ossification centers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870849</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4025309</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
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||
<div class="spaceAbove">Three ossification sites are present in typical vertebral bodies (C3-L5)</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/870849">Feature record</a> | <a href="/medgen?term=%22Supernumerary%20vertebral%20ossification%20centers%22%5BClinical%20Features%5D%20OR%20870849%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(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_387832" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Slender finger</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_867093" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Contracture of the proximal interphalangeal joint of the 2nd finger</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44042" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kyphosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_339524" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Odontoid hypoplasia</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_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Supernumerary vertebral ossification centers</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">Growth abnormality</span><ul><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>
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||
</div>
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<div class="portlet mgSection" id="ID_118">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0265343[DISCUI]&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&from_uid=82707" ref="ncbi_uid=82707">V</a></span></span><span class="TLline"><a href="/medgen/82707" ref="tree=GTR&ncbi_uid=82707&link_uid=82707" title="View MedGen record for 'Spondylocostal dysostosis'">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=CN043670[DISCUI]&test_type=Clinical&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&ncbi_uid=834047&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]&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&from_uid=834049" ref="ncbi_uid=834049">V</a></span></span><span class="TLline"><a href="/medgen/834049" ref="tree=GTR&ncbi_uid=834049&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]&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&from_uid=332481" ref="ncbi_uid=332481">V</a></span></span><span class="TLline"><a href="/medgen/332481" ref="tree=GTR&ncbi_uid=332481&link_uid=332481" title="View MedGen record for 'Spondylocostal dysostosis 2, autosomal recessive'">Spondylocostal dysostosis 2, autosomal recessive</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853296[DISCUI]&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&from_uid=377871" ref="ncbi_uid=377871">V</a></span></span><span class="TLline">Spondylocostal dysostosis 3, autosomal recessive</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]&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&from_uid=462292" ref="ncbi_uid=462292">V</a></span></span><span class="TLline"><a href="/medgen/462292" ref="tree=GTR&ncbi_uid=462292&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]&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&from_uid=901825" ref="ncbi_uid=901825">V</a></span></span><span class="TLline"><a href="/medgen/901825" ref="tree=GTR&ncbi_uid=901825&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/1842242" ref="tree=MeSH" title="MedGen record for Congenital disorder of glycosylation-related bone disorder">Congenital disorder of glycosylation-related bone disorder</a></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="matched_ds">Spondylocostal dysostosis 3, autosomal recessive</span></li></ul></li></ul></li></ul></div></div></div></div>
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||
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1853296%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (14)</a></li>
|
||
<li><a href="/gtr/tests?term=C1853296%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (20)</a></li>
|
||
<li><a href="/gtr/tests?term=C1853296%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1853296%5bDISCUI%5d" target="_blank">See all (22)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=602576" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3955[geneid]" target="_blank">View LFNG variations in ClinVar</a></li><li><a href="/nuccore/193211393" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=609813" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/spondylocostal_dysostosis_3_autosomal_recessive" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Spondylocostal%20dysostosis%203,%20autosomal%20recessive" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/spondylocostal-dysostosis" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/4973/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d572ea67c23b31e0319083">Spondylocostal dysostosis 3, autosomal recessive</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d572a62f30673f7b75b603">Table 6. [Autosomal Recessive Spondylocostal Dysostosis: Gene-Specific Laborator...</a>
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