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<meta name="keywords" content="C0265280, congenital abnormality, disease or syndrome, dysmorphism arthrogryposis skeletal maturation advanced, jequier kozlowski skeletal dysplasia, jequier-kozlowski syndrome, kozlowski spondylometaphyseal dysplasia, skeletal dysplasia jequier-kozlowski type, smd kozlowski type, smd, kozlowski type, smdk, spondylometaphyseal dysplasia kozlowski type, spondylometaphyseal dysplasia, kozlowski type, trpv4, 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="The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Spondylometaphyseal dysplasia, Kozlowski type (Concept Id: C0265280)
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<!--
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Spondylometaphyseal dysplasia, Kozlowski type<span class="h1sub">(SMDK)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82698</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."><span class="highlight" style="background-color:">C0265280</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality; Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Dysmorphism arthrogryposis skeletal maturation advanced; Jequier-Kozlowski syndrome; Skeletal dysplasia Jequier-Kozlowski type; SMD Kozlowski type; SMDK</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Kozlowski spondylometaphyseal dysplasia (111304003); Spondylometaphyseal dysplasia Kozlowski type (111304003)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></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="TRPV4 - ID: 59341 - NCBI Gene" href="/gene/59341" class="medgenPMinfo">TRPV4</a> (12q24.11)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0008477" target="_blank">MONDO:0008477</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/184252" target="_blank">184252</a></td></tr>
<tr><td>Orphanet:</td>
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&amp;Expert=93314">ORPHA93314</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_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div>
</div>
<div class="portlet mgSection" id="ID_117">
<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>
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />SMD Kozlowski (SMDK) is an autosomal dominant disorder characterized by significant scoliosis and mild metaphyseal abnormalities in the pelvis. The vertebrae exhibit platyspondyly and overfaced pedicles (Krakow et al., 2009).  <a target="_blank" href="http://www.omim.org/entry/184252">http://www.omim.org/entry/184252</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_331872"><div><strong>Irregular acetabular roof</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331872</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.">C1834975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/331872">Feature record</a> | <a href="/medgen?term=%22Irregular%20acetabular%20roof%22%5BClinical%20Features%5D%20OR%20331872%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_373340"><div><strong>Flat acetabular roof</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373340</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.">C1837485</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/373340">Feature record</a> | <a href="/medgen?term=%22Flat%20acetabular%20roof%22%5BClinical%20Features%5D%20OR%20373340%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_374771"><div><strong>Delayed ossification of carpal bones</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374771</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.">C1841684</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Ossification of carpal bones occurs later than age-adjusted norms.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/374771">Feature record</a> | <a href="/medgen?term=%22Delayed%20ossification%20of%20carpal%20bones%22%5BClinical%20Features%5D%20OR%20374771%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_355049"><div><strong>Carpal bone hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355049</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.">C1863749</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Underdevelopment of one or more carpal bones.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/355049">Feature record</a> | <a href="/medgen?term=%22Carpal%20bone%20hypoplasia%22%5BClinical%20Features%5D%20OR%20355049%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_870603"><div><strong>Dumbbell-shaped femur</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870603</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.">C4025052</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">The femur is shortened and displays flaring (widening) of the metaphyses.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/870603">Feature record</a> | <a href="/medgen?term=%22Dumbbell-shaped%20femur%22%5BClinical%20Features%5D%20OR%20870603%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1762829"><div><strong>Abnormal foot morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1762829</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.">C5399834</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">An abnormality of the skeleton of foot.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1762829">Feature record</a> | <a href="/medgen?term=%22Abnormal%20foot%20morphology%22%5BClinical%20Features%5D%20OR%201762829%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1790477"><div><strong>Coxa vara</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1790477</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.">C5551440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1790477">Feature record</a> | <a href="/medgen?term=%22Coxa%20vara%22%5BClinical%20Features%5D%20OR%201790477%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66667"><div><strong>Waddling gait</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66667</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.">C0231712</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66667">Feature record</a> | <a href="/medgen?term=%22Waddling%20gait%22%5BClinical%20Features%5D%20OR%2066667%5Buid%5D">Search on this feature</a></div></div>
<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)&#10;Click for more information.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
<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>
<div class="divPopper rprt" id="clin_57643"><div><strong>Pectus carinatum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57643</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.">C0158731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57643">Feature record</a> | <a href="/medgen?term=%22Pectus%20carinatum%22%5BClinical%20Features%5D%20OR%2057643%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_98367"><div><strong>Elbow flexion contracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98367</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.">C0409338</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Acquired Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Elbow%20flexion%20contracture%22%5BClinical%20Features%5D%20OR%2098367%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_108148"><div><strong>Delayed skeletal maturation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108148</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.">C0541764</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/108148">Feature record</a> | <a href="/medgen?term=%22Delayed%20skeletal%20maturation%22%5BClinical%20Features%5D%20OR%20108148%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_154353"><div><strong>Narrow greater sciatic notch</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154353</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.">C0566888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/154353">Feature record</a> | <a href="/medgen?term=%22Narrow%20greater%20sciatic%20notch%22%5BClinical%20Features%5D%20OR%20154353%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_335010"><div><strong>Platyspondyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335010</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.">C1844704</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A flattened vertebral body shape with reduced distance between the vertebral endplates.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/335010">Feature record</a> | <a href="/medgen?term=%22Platyspondyly%22%5BClinical%20Features%5D%20OR%20335010%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_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)&#10;Click for more information.">C1846439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<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>
<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>
<div class="divPopper rprt" id="clin_337976"><div><strong>Flared metaphysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337976</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.">C1850135</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/337976">Feature record</a> | <a href="/medgen?term=%22Flared%20metaphysis%22%5BClinical%20Features%5D%20OR%20337976%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_347068"><div><strong>Enlarged joints</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347068</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.">C1859111</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Increase in size of one or more joints.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/347068">Feature record</a> | <a href="/medgen?term=%22Enlarged%20joints%22%5BClinical%20Features%5D%20OR%20347068%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_347156"><div><strong>Cone-shaped epiphyses of the phalanges of the hand</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347156</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.">C1859480</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/347156">Feature record</a> | <a href="/medgen?term=%22Cone-shaped%20epiphyses%20of%20the%20phalanges%20of%20the%20hand%22%5BClinical%20Features%5D%20OR%20347156%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_356097"><div><strong>Flared iliac wing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356097</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.">C1865841</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/356097">Feature record</a> | <a href="/medgen?term=%22Flared%20iliac%20wing%22%5BClinical%20Features%5D%20OR%20356097%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_401062"><div><strong>Irregular, rachitic-like metaphyses</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401062</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.">C1866700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/401062">Feature record</a> | <a href="/medgen?term=%22Irregular%2C%20rachitic-like%20metaphyses%22%5BClinical%20Features%5D%20OR%20401062%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_478749"><div><strong>Halberd-shaped pelvis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>478749</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.">C3277119</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/478749">Feature record</a> | <a href="/medgen?term=%22Halberd-shaped%20pelvis%22%5BClinical%20Features%5D%20OR%20478749%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_866530"><div><strong>Irregular capital femoral epiphysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866530</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.">C4020825</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Irregular surface of the normally relatively smooth capital femoral epiphysis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/866530">Feature record</a> | <a href="/medgen?term=%22Irregular%20capital%20femoral%20epiphysis%22%5BClinical%20Features%5D%20OR%20866530%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_871275"><div><strong>Abnormal rib cage morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871275</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.">C4025763</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A morphological anomaly of the rib cage.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/871275">Feature record</a> | <a href="/medgen?term=%22Abnormal%20rib%20cage%20morphology%22%5BClinical%20Features%5D%20OR%20871275%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1674850"><div><strong>Spondylometaphyseal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1674850</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.">C4759767</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Characteristics are platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localisation and severity of involvement of the affected metaphyses.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1674850">Feature record</a> | <a href="/medgen?term=%22Spondylometaphyseal%20dysplasia%22%5BClinical%20Features%5D%20OR%201674850%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_65991"><div><strong>High forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65991</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.">C0239676</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormally increased height of the forehead.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/65991">Feature record</a> | <a href="/medgen?term=%22High%20forehead%22%5BClinical%20Features%5D%20OR%2065991%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="divPopper rprt" id="clin_373112"><div><strong>Depressed nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373112</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.">C1836542</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Posterior positioning of the nasal root in relation to the overall facial profile for age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/373112">Feature record</a> | <a href="/medgen?term=%22Depressed%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20373112%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_373112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depressed nasal bridge</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65991" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High forehead</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 limbs</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1762829" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal foot morphology</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_355049" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carpal bone hypoplasia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1790477" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coxa vara</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_374771" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed ossification of carpal bones</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870603" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dumbbell-shaped femur</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373340" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Flat acetabular roof</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_331872" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Irregular acetabular roof</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_871275" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal rib cage morphology</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347156" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cone-shaped epiphyses of the phalanges of the hand</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108148" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed skeletal maturation</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_98367" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elbow flexion contracture</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347068" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Enlarged joints</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_356097" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Flared iliac wing</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_337976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Flared metaphysis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_478749" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Halberd-shaped pelvis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866530" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Irregular capital femoral epiphysis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_401062" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Irregular, rachitic-like metaphyses</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_154353" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Narrow greater sciatic notch</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_57643" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pectus carinatum</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335010" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Platyspondyly</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_1674850" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylometaphyseal dysplasia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66667" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Waddling gait</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><li><a href="#tabORDO">Orphanet</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=CN043672[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=431606">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/NBK540447/" ref="ncbi_uid=431606">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=431606" ref="ncbi_uid=431606">V</a></span></span><span class="TLline"><a href="/medgen/431606" ref="tree=GTR&amp;ncbi_uid=431606&amp;link_uid=431606" title="View MedGen record for 'Type II Collagenopathies'">Type II Collagenopathies</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=C0220685[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=66315">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=66315" target="_blank" href="/omim/120140">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK540447/" ref="ncbi_uid=66315">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=66315" ref="ncbi_uid=66315">V</a></span></span><span class="TLline"><a href="/medgen/66315" ref="tree=GTR&amp;ncbi_uid=66315&amp;link_uid=66315" title="View MedGen record for 'Achondrogenesis type II'">Achondrogenesis type II</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=C4551562[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=1639295">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1639295" target="_blank" href="/omim/120140">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK540447/" ref="ncbi_uid=1639295">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=1639295" ref="ncbi_uid=1639295">V</a></span></span><span class="TLline"><a href="/medgen/1639295" ref="tree=GTR&amp;ncbi_uid=1639295&amp;link_uid=1639295" title="View MedGen record for 'Avascular necrosis of femoral head, primary, 1'">Avascular necrosis of femoral head, primary, 1</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=C0265279[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=75559">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75559" target="_blank" href="/omim/120140">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK540447/" ref="ncbi_uid=75559">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=75559" ref="ncbi_uid=75559">V</a></span></span><span class="TLline"><a href="/medgen/75559" ref="tree=GTR&amp;ncbi_uid=75559&amp;link_uid=75559" title="View MedGen record for 'Kniest dysplasia'">Kniest dysplasia</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=C0432214[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=609409">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=609409" target="_blank" href="/omim/120140">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK540447/" ref="ncbi_uid=609409">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=609409" ref="ncbi_uid=609409">V</a></span></span><span class="TLline"><a href="/medgen/609409" ref="tree=GTR&amp;ncbi_uid=609409&amp;link_uid=609409" title="View MedGen record for 'Namaqualand hip dysplasia'">Namaqualand hip dysplasia</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=C1835437[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=331974">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331974" target="_blank" href="/omim/120140">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK540447/" ref="ncbi_uid=331974">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=331974" ref="ncbi_uid=331974">V</a></span></span><span class="TLline"><a href="/medgen/331974" ref="tree=GTR&amp;ncbi_uid=331974&amp;link_uid=331974" title="View MedGen record for 'Platyspondylic dysplasia, Torrance type'">Platyspondylic dysplasia, Torrance type</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=C2745959[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=412530">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=412530" target="_blank" href="/omim/120140">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK540447/" ref="ncbi_uid=412530">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=412530" ref="ncbi_uid=412530">V</a></span></span><span class="TLline"><a href="/medgen/412530" ref="tree=GTR&amp;ncbi_uid=412530&amp;link_uid=412530" title="View MedGen record for 'Spondyloepiphyseal dysplasia congenita'">Spondyloepiphyseal dysplasia congenita</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=C4759767[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=1674850">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1674850" target="_blank" href="/omim/184250">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK540447/" ref="ncbi_uid=1674850">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=1674850" ref="ncbi_uid=1674850">V</a></span></span><span class="TLline"><a href="/medgen/1674850" ref="tree=GTR&amp;ncbi_uid=1674850&amp;link_uid=1674850" title="View MedGen record for 'Spondylometaphyseal dysplasia'">Spondylometaphyseal dysplasia</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=C2750075[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=413221">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413221" target="_blank" href="/omim/613320">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=413221" ref="ncbi_uid=413221">V</a></span></span><span class="TLline"><a href="/medgen/413221" ref="tree=GTR&amp;ncbi_uid=413221&amp;link_uid=413221" title="View MedGen record for 'Autosomal recessive spondylometaphyseal dysplasia, Megarbane type'">Autosomal recessive spondylometaphyseal dysplasia, Megarbane type</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=C1865695[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=356065">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356065" target="_blank" href="/omim/602271">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=356065" ref="ncbi_uid=356065">V</a></span></span><span class="TLline"><a href="/medgen/356065" ref="tree=GTR&amp;ncbi_uid=356065&amp;link_uid=356065" title="View MedGen record for 'Axial spondylometaphyseal dysplasia'">Axial spondylometaphyseal dysplasia</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=C1842763[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=375009">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=375009" target="_blank" href="/omim/171640">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=375009" ref="ncbi_uid=375009">V</a></span></span><span class="TLline"><a href="/medgen/375009" ref="tree=GTR&amp;ncbi_uid=375009&amp;link_uid=375009" title="View MedGen record for 'Spondyloenchondrodysplasia with immune dysregulation'">Spondyloenchondrodysplasia with immune dysregulation</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=C0700635[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=147134">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=147134" target="_blank" href="/omim/120140">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK540447/" ref="ncbi_uid=147134">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=147134" ref="ncbi_uid=147134">V</a></span></span><span class="TLline"><a href="/medgen/147134" ref="tree=GTR&amp;ncbi_uid=147134&amp;link_uid=147134" title="View MedGen record for 'Spondyloepimetaphyseal dysplasia, Strudwick type'">Spondyloepimetaphyseal dysplasia, Strudwick type</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=C0432221[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=98146">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98146" target="_blank" href="/omim/135600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK555103/" ref="ncbi_uid=98146">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=98146" ref="ncbi_uid=98146">V</a></span></span><span class="TLline"><a href="/medgen/98146" ref="tree=GTR&amp;ncbi_uid=98146&amp;link_uid=98146" title="View MedGen record for 'Spondylometaphyseal dysplasia - Sutcliffe type'">Spondylometaphyseal dysplasia - Sutcliffe type</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=C0265280[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=82698">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82698" target="_blank" href="/omim/184252">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK201366%20OR%20NBK540447)%20AND%20gene%5Bbook%5D&amp;showtype=onebook" ref="ncbi_uid=82698">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=82698" ref="ncbi_uid=82698">V</a></span></span><span class="TLline">Spondylometaphyseal dysplasia, Kozlowski type</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1855229[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=340816">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340816" target="_blank" href="/omim/138322">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=340816" ref="ncbi_uid=340816">V</a></span></span><span class="TLline"><a href="/medgen/340816" ref="tree=GTR&amp;ncbi_uid=340816&amp;link_uid=340816" title="View MedGen record for 'Spondylometaphyseal dysplasia, Sedaghatian type'">Spondylometaphyseal dysplasia, Sedaghatian type</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=C0796173[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=163223">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=163223" target="_blank" href="/omim/120140">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK540447/" ref="ncbi_uid=163223">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=163223" ref="ncbi_uid=163223">V</a></span></span><span class="TLline"><a href="/medgen/163223" ref="tree=GTR&amp;ncbi_uid=163223&amp;link_uid=163223" title="View MedGen record for 'Spondyloperipheral dysplasia'">Spondyloperipheral dysplasia</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=C2020284[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=810955">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=810955" target="_blank" href="/omim/108300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1302%20OR%20NBK540447)%20AND%20gene%5Bbook%5D&amp;showtype=onebook" ref="ncbi_uid=810955">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=810955" ref="ncbi_uid=810955">V</a></span></span><span class="TLline"><a href="/medgen/810955" ref="tree=GTR&amp;ncbi_uid=810955&amp;link_uid=810955" title="View MedGen record for 'Stickler syndrome type 1'">Stickler syndrome type 1</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/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/867418" ref="tree=MeSH" title="MedGen record for Abnormality of the skeletal system">Abnormality of the skeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/868760" ref="tree=MeSH" title="MedGen record for Abnormal skeletal morphology">Abnormal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/98053" ref="tree=MeSH" title="MedGen record for Skeletal dysplasia">Skeletal dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/1674850" ref="tree=MeSH" title="MedGen record for Spondylometaphyseal dysplasia">Spondylometaphyseal dysplasia</a></span><ul><li><span class="matched_ds">Spondylometaphyseal dysplasia, Kozlowski type</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&amp;data_id=156&amp;PatId=12251&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Spondylometaphyseal dysplasia, Kozlowski type</span> in Orphanet.</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/24291408">Brace treatment of thoracolumbar kyphosis in spondylometaphyseal dysplasia with restoration of vertebral morphology and sagittal profile: a case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ibrahim S,
Labelle H,
Mac-Thiong JM</span><br />
<span class="medgenPMjournal">Spine J</span>
2015 Jun 1;15(6):e29-34.
Epub 2013 Oct 4
doi: 10.1016/j.spinee.2013.08.057.
<span class="bold">PMID: </span><a href="/pubmed/24291408" target="_blank">24291408</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(spondylometaphyseal%20dysplasia%2C%20kozlowski%20type)%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 (1)</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/39825918">Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Güneş N,
Alkaya DU,
Kurugoğlu S,
Özyalvaç N,
Bursalı A,
Elçioğlu NH,
Tüysüz B</span><br />
<span class="medgenPMjournal">Pediatr Radiol</span>
2025 Mar;55(3):505-519.
Epub 2025 Jan 18
doi: 10.1007/s00247-024-06145-7.
<span class="bold">PMID: </span><a href="/pubmed/39825918" target="_blank">39825918</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33774370">Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ürel-Demir G,
Şimşek-Kiper PÖ,
Öncel İ,
Utine GE,
Haliloğlu G,
Boduroğlu K</span><br />
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
2021 May;32:46-55.
Epub 2021 Mar 16
doi: 10.1016/j.ejpn.2021.03.011.
<span class="bold">PMID: </span><a href="/pubmed/33774370" target="_blank">33774370</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22791502">TRPV4-associated skeletal dysplasias.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nishimura G,
Lausch E,
Savarirayan R,
Shiba M,
Spranger J,
Zabel B,
Ikegawa S,
Superti-Furga A,
Unger S</span><br />
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
2012 Aug 15;160C(3):190-204.
Epub 2012 Jul 12
doi: 10.1002/ajmg.c.31335.
<span class="bold">PMID: </span><a href="/pubmed/22791502" target="_blank">22791502</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21964829">Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Unger S,
Lausch E,
Stanzial F,
Gillessen-Kaesbach G,
Stefanova I,
Di Stefano CM,
Bertini E,
Dionisi-Vici C,
Nilius B,
Zabel B,
Superti-Furga A</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2011 Nov;155A(11):2860-4.
Epub 2011 Sep 30
doi: 10.1002/ajmg.a.34268.
<span class="bold">PMID: </span><a href="/pubmed/21964829" target="_blank">21964829</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19232556">Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Krakow D,
Vriens J,
Camacho N,
Luong P,
Deixler H,
Funari TL,
Bacino CA,
Irons MB,
Holm IA,
Sadler L,
Okenfuss EB,
Janssens A,
Voets T,
Rimoin DL,
Lachman RS,
Nilius B,
Cohn DH</span><br />
<span class="medgenPMjournal">Am J Hum Genet</span>
2009 Mar;84(3):307-15.
Epub 2009 Feb 19
doi: 10.1016/j.ajhg.2009.01.021.
<span class="bold">PMID: </span><a href="/pubmed/19232556" target="_blank">19232556</a><a href="/pmc/articles/PMC2667978" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spondylometaphyseal%20dysplasia%2C%20Kozlowski%20type%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 (6)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/33774370">Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ürel-Demir G,
Şimşek-Kiper PÖ,
Öncel İ,
Utine GE,
Haliloğlu G,
Boduroğlu K</span><br />
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
2021 May;32:46-55.
Epub 2021 Mar 16
doi: 10.1016/j.ejpn.2021.03.011.
<span class="bold">PMID: </span><a href="/pubmed/33774370" target="_blank">33774370</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31808622">Metatropic Dysplasia of Nonlethal Variant in a Chinese Child - A Case Report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tchio Tchoumba MA,
Bai Y,
Jin R,
Yu X,
Male M</span><br />
<span class="medgenPMjournal">Orthop Surg</span>
2020 Feb;12(1):333-336.
Epub 2019 Dec 6
doi: 10.1111/os.12546.
<span class="bold">PMID: </span><a href="/pubmed/31808622" target="_blank">31808622</a><a href="/pmc/articles/PMC7031589" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28687525">SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bieganski T,
Beighton P,
Lukaszewski M,
Bik K,
Kuszel L,
Wasilewska E,
Kozlowski K,
Czarny-Ratajczak M</span><br />
<span class="medgenPMjournal">Eur J Med Genet</span>
2017 Oct;60(10):509-516.
Epub 2017 Jul 4
doi: 10.1016/j.ejmg.2017.07.004.
<span class="bold">PMID: </span><a href="/pubmed/28687525" target="_blank">28687525</a><a href="/pmc/articles/PMC5785083" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20577006">Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dai J,
Kim OH,
Cho TJ,
Schmidt-Rimpler M,
Tonoki H,
Takikawa K,
Haga N,
Miyoshi K,
Kitoh H,
Yoo WJ,
Choi IH,
Song HR,
Jin DK,
Kim HT,
Kamasaki H,
Bianchi P,
Grigelioniene G,
Nampoothiri S,
Minagawa M,
Miyagawa SI,
Fukao T,
Marcelis C,
Jansweijer MC,
Hennekam RC,
Bedeschi F,
Mustonen A,
Jiang Q,
Ohashi H,
Furuichi T,
Unger S,
Zabel B,
Lausch E,
Superti-Furga A,
Nishimura G,
Ikegawa S</span><br />
<span class="medgenPMjournal">J Med Genet</span>
2010 Oct;47(10):704-9.
Epub 2010 Jun 24
doi: 10.1136/jmg.2009.075358.
<span class="bold">PMID: </span><a href="/pubmed/20577006" target="_blank">20577006</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8233993">Spondylometaphyseal dysplasia (Kozlowski type): case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Guzman CM,
Aaron GR</span><br />
<span class="medgenPMjournal">Pediatr Dent</span>
1993 Jan-Feb;15(1):49-52.
<span class="bold">PMID: </span><a href="/pubmed/8233993" target="_blank">8233993</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spondylometaphyseal%20dysplasia%2C%20Kozlowski%20type%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 (8)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/20577006">Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dai J,
Kim OH,
Cho TJ,
Schmidt-Rimpler M,
Tonoki H,
Takikawa K,
Haga N,
Miyoshi K,
Kitoh H,
Yoo WJ,
Choi IH,
Song HR,
Jin DK,
Kim HT,
Kamasaki H,
Bianchi P,
Grigelioniene G,
Nampoothiri S,
Minagawa M,
Miyagawa SI,
Fukao T,
Marcelis C,
Jansweijer MC,
Hennekam RC,
Bedeschi F,
Mustonen A,
Jiang Q,
Ohashi H,
Furuichi T,
Unger S,
Zabel B,
Lausch E,
Superti-Furga A,
Nishimura G,
Ikegawa S</span><br />
<span class="medgenPMjournal">J Med Genet</span>
2010 Oct;47(10):704-9.
Epub 2010 Jun 24
doi: 10.1136/jmg.2009.075358.
<span class="bold">PMID: </span><a href="/pubmed/20577006" target="_blank">20577006</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spondylometaphyseal%20dysplasia%2C%20Kozlowski%20type%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39825918">Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Güneş N,
Alkaya DU,
Kurugoğlu S,
Özyalvaç N,
Bursalı A,
Elçioğlu NH,
Tüysüz B</span><br />
<span class="medgenPMjournal">Pediatr Radiol</span>
2025 Mar;55(3):505-519.
Epub 2025 Jan 18
doi: 10.1007/s00247-024-06145-7.
<span class="bold">PMID: </span><a href="/pubmed/39825918" target="_blank">39825918</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22419508">TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cho TJ,
Matsumoto K,
Fano V,
Dai J,
Kim OH,
Chae JH,
Yoo WJ,
Tanaka Y,
Matsui Y,
Takigami I,
Monges S,
Zabel B,
Shimizu K,
Nishimura G,
Lausch E,
Ikegawa S</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2012 Apr;158A(4):795-802.
Epub 2012 Mar 14
doi: 10.1002/ajmg.a.35268.
<span class="bold">PMID: </span><a href="/pubmed/22419508" target="_blank">22419508</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21964829">Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Unger S,
Lausch E,
Stanzial F,
Gillessen-Kaesbach G,
Stefanova I,
Di Stefano CM,
Bertini E,
Dionisi-Vici C,
Nilius B,
Zabel B,
Superti-Furga A</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2011 Nov;155A(11):2860-4.
Epub 2011 Sep 30
doi: 10.1002/ajmg.a.34268.
<span class="bold">PMID: </span><a href="/pubmed/21964829" target="_blank">21964829</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19232556">Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Krakow D,
Vriens J,
Camacho N,
Luong P,
Deixler H,
Funari TL,
Bacino CA,
Irons MB,
Holm IA,
Sadler L,
Okenfuss EB,
Janssens A,
Voets T,
Rimoin DL,
Lachman RS,
Nilius B,
Cohn DH</span><br />
<span class="medgenPMjournal">Am J Hum Genet</span>
2009 Mar;84(3):307-15.
Epub 2009 Feb 19
doi: 10.1016/j.ajhg.2009.01.021.
<span class="bold">PMID: </span><a href="/pubmed/19232556" target="_blank">19232556</a><a href="/pmc/articles/PMC2667978" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spondylometaphyseal%20dysplasia%2C%20Kozlowski%20type%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/39825918">Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Güneş N,
Alkaya DU,
Kurugoğlu S,
Özyalvaç N,
Bursalı A,
Elçioğlu NH,
Tüysüz B</span><br />
<span class="medgenPMjournal">Pediatr Radiol</span>
2025 Mar;55(3):505-519.
Epub 2025 Jan 18
doi: 10.1007/s00247-024-06145-7.
<span class="bold">PMID: </span><a href="/pubmed/39825918" target="_blank">39825918</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22419508">TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cho TJ,
Matsumoto K,
Fano V,
Dai J,
Kim OH,
Chae JH,
Yoo WJ,
Tanaka Y,
Matsui Y,
Takigami I,
Monges S,
Zabel B,
Shimizu K,
Nishimura G,
Lausch E,
Ikegawa S</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2012 Apr;158A(4):795-802.
Epub 2012 Mar 14
doi: 10.1002/ajmg.a.35268.
<span class="bold">PMID: </span><a href="/pubmed/22419508" target="_blank">22419508</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21964829">Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Unger S,
Lausch E,
Stanzial F,
Gillessen-Kaesbach G,
Stefanova I,
Di Stefano CM,
Bertini E,
Dionisi-Vici C,
Nilius B,
Zabel B,
Superti-Furga A</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2011 Nov;155A(11):2860-4.
Epub 2011 Sep 30
doi: 10.1002/ajmg.a.34268.
<span class="bold">PMID: </span><a href="/pubmed/21964829" target="_blank">21964829</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20577006">Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dai J,
Kim OH,
Cho TJ,
Schmidt-Rimpler M,
Tonoki H,
Takikawa K,
Haga N,
Miyoshi K,
Kitoh H,
Yoo WJ,
Choi IH,
Song HR,
Jin DK,
Kim HT,
Kamasaki H,
Bianchi P,
Grigelioniene G,
Nampoothiri S,
Minagawa M,
Miyagawa SI,
Fukao T,
Marcelis C,
Jansweijer MC,
Hennekam RC,
Bedeschi F,
Mustonen A,
Jiang Q,
Ohashi H,
Furuichi T,
Unger S,
Zabel B,
Lausch E,
Superti-Furga A,
Nishimura G,
Ikegawa S</span><br />
<span class="medgenPMjournal">J Med Genet</span>
2010 Oct;47(10):704-9.
Epub 2010 Jun 24
doi: 10.1136/jmg.2009.075358.
<span class="bold">PMID: </span><a href="/pubmed/20577006" target="_blank">20577006</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19232556">Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Krakow D,
Vriens J,
Camacho N,
Luong P,
Deixler H,
Funari TL,
Bacino CA,
Irons MB,
Holm IA,
Sadler L,
Okenfuss EB,
Janssens A,
Voets T,
Rimoin DL,
Lachman RS,
Nilius B,
Cohn DH</span><br />
<span class="medgenPMjournal">Am J Hum Genet</span>
2009 Mar;84(3):307-15.
Epub 2009 Feb 19
doi: 10.1016/j.ajhg.2009.01.021.
<span class="bold">PMID: </span><a href="/pubmed/19232556" target="_blank">19232556</a><a href="/pmc/articles/PMC2667978" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spondylometaphyseal%20dysplasia%2C%20Kozlowski%20type%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 (5)</a></div></div>
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<div class="supplemental col three_col last">
<h2 class="offscreen_noflow">Supplemental Content</h2>
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<!-- MedGen supplemental column starts here -->
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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>
</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=C0265280%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (23)</a></li>
<li><a href="/gtr/tests?term=C0265280%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
<li><a href="/gtr/tests?term=C0265280%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (34)</a></li>
<li><a href="/gtr/tests?term=C0265280%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=C0265280%5bDISCUI%5d" target="_blank">See all (35)</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/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=184252" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=93314" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Spondylometaphyseal%20dysplasia,%20Kozlowski%20type" 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=(spondylometaphyseal%20dysplasia%2C%20kozlowski%20type)%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_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=605427" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=59341[geneid]" target="_blank">View TRPV4 variations in ClinVar</a></li><li><a href="/nuccore/294610644" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=184252" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Spondylometaphyseal+dysplasia+Kozlowski+type/6836" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/spondylometaphyseal_dysplasia_kozlowski_type_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Spondylometaphyseal%20dysplasia,%20Kozlowski%20type" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/3047/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<h3>Reviews</h3>
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<a href="/pubmed/31021589" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=2&amp;linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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<a href="/pubmed/clinical?term=Spondylometaphyseal%20dysplasia,%20Kozlowski%20type" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=3&amp;linkpostotal=4" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Spondylometaphyseal%20dysplasia,%20Kozlowski%20type%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=4&amp;linkpostotal=4" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=82698" ref="log$=recordlinks">ClinVar</a>
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&amp;from_uid=82698" ref="log$=recordlinks">Gene</a>
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0265280[DISCUI]" ref="log$=recordlinks">GTR</a>
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&amp;from_uid=82698" ref="log$=recordlinks">MeSH</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&amp;from_uid=82698" ref="log$=recordlinks">PubMed</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&amp;from_uid=82698" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&amp;from_uid=82698" ref="log$=recordlinks">PubMed (GeneReviews)</a>
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&amp;from_uid=82698" ref="log$=recordlinks">PubMed (OMIM)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&amp;linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb6027a68b6b5afcba67e7">Spondylometaphyseal dysplasia, Kozlowski type</a>
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<a class="htb" ref="log$=activity&amp;linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cb6026b15b832ebc4b66a1">C0265280[conceptid] <span class="number">(1)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&amp;linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cb6025f4a390645e804fdc">C4759767[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(3)</span></a>
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