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<!--
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||
UID=20916
|
||
ConceptID=C0038015
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Spondyloepiphyseal dysplasia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20916</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038015</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Spondylo-epi-(meta)-physeal dysplasia</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002655">HP:0002655</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0016761" target="_blank">MONDO:0016761</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&Expert=253">ORPHA253</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>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses). [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0038015[DISCUI]&test_type=Clinical" ref="ncbi_uid=20916">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=20916" ref="ncbi_uid=20916">V</a></span></span><span class="TLline">Spondyloepiphyseal dysplasia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/867418" ref="tree=MeSH" title="MedGen record for Abnormality of the skeletal system">Abnormality of the skeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/868760" ref="tree=MeSH" title="MedGen record for Abnormal skeletal morphology">Abnormal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/98053" ref="tree=MeSH" title="MedGen record for Skeletal dysplasia">Skeletal dysplasia</a></span><ul><li><span class="matched_ds">Spondyloepiphyseal dysplasia</span><ul><li><span class="TLline"><a href="/medgen/375972" ref="tree=MeSH" title="MedGen record for Anauxetic dysplasia">Anauxetic dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/98476" ref="tree=MeSH" title="MedGen record for Autosomal recessive spondyloepimetaphyseal dysplasia">Autosomal recessive spondyloepimetaphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/419408" ref="tree=MeSH" title="MedGen record for Brachydactylous dwarfism, Mseleni type">Brachydactylous dwarfism, Mseleni type</a></span></li><li><span class="TLline"><a href="/medgen/863379" ref="tree=MeSH" title="MedGen record for Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome">Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/333031" ref="tree=MeSH" title="MedGen record for CODAS syndrome">CODAS syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1638945" ref="tree=MeSH" title="MedGen record for Cono-spondylar dysplasia">Cono-spondylar dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/120527" ref="tree=MeSH" title="MedGen record for Dyggve-Melchior-Clausen syndrome">Dyggve-Melchior-Clausen syndrome</a></span></li><li><span class="TLline"><a href="/medgen/393515" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, spondylocheirodysplastic type">Ehlers-Danlos syndrome, spondylocheirodysplastic type</a></span></li><li><span class="TLline"><a href="/medgen/904613" ref="tree=MeSH" title="MedGen record for Even-plus syndrome">Even-plus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75559" ref="tree=MeSH" title="MedGen record for Kniest dysplasia">Kniest dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/347372" ref="tree=MeSH" title="MedGen record for Lethal Kniest-like syndrome">Lethal Kniest-like syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82694" ref="tree=MeSH" title="MedGen record for Marshall syndrome">Marshall syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82699" ref="tree=MeSH" title="MedGen record for Metatropic dysplasia">Metatropic dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/609409" ref="tree=MeSH" title="MedGen record for Namaqualand hip dysplasia">Namaqualand hip dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1617409" ref="tree=MeSH" title="MedGen record for Otospondylomegaepiphyseal dysplasia">Otospondylomegaepiphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/341234" ref="tree=MeSH" title="MedGen record for Otospondylomegaepiphyseal dysplasia, autosomal dominant">Otospondylomegaepiphyseal dysplasia, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/96581" ref="tree=MeSH" title="MedGen record for Progressive pseudorheumatoid dysplasia">Progressive pseudorheumatoid dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1800305" ref="tree=MeSH" title="MedGen record for Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome">Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419686" ref="tree=MeSH" title="MedGen record for Richieri Costa-da Silva syndrome">Richieri Costa-da Silva syndrome</a></span></li><li><span class="TLline"><a href="/medgen/375801" ref="tree=MeSH" title="MedGen record for Roifman syndrome">Roifman syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98145" ref="tree=MeSH" title="MedGen record for Rolland-Debuqois syndrome">Rolland-Debuqois syndrome</a></span></li><li><span class="TLline"><a href="/medgen/164078" ref="tree=MeSH" title="MedGen record for Schimke immuno-osseous dysplasia">Schimke immuno-osseous dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/19892" ref="tree=MeSH" title="MedGen record for Schwartz-Jampel syndrome">Schwartz-Jampel syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1647990" ref="tree=MeSH" title="MedGen record for Schwartz-Jampel syndrome type 1">Schwartz-Jampel syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/167109" ref="tree=MeSH" title="MedGen record for Stuve-Wiedemann syndrome">Stuve-Wiedemann syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1805977" ref="tree=MeSH" title="MedGen record for Stuve-Wiedemann syndrome 2">Stuve-Wiedemann syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/1803541" ref="tree=MeSH" title="MedGen record for Stüve-Wiedemann syndrome 1">Stüve-Wiedemann syndrome 1</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/375887" ref="tree=MeSH" title="MedGen record for Smith-McCort dysplasia">Smith-McCort dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/266247" ref="tree=MeSH" title="MedGen record for Sponastrime dysplasia">Sponastrime dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/412869" ref="tree=MeSH" title="MedGen record for Spondylo-megaepiphyseal-metaphyseal dysplasia">Spondylo-megaepiphyseal-metaphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/98148" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia with joint laxity">Spondyloepimetaphyseal dysplasia with joint laxity</a></span></li><li><span class="TLline"><a href="/medgen/350960" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia with multiple dislocations">Spondyloepimetaphyseal dysplasia with multiple dislocations</a></span></li><li><span class="TLline"><a href="/medgen/411237" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia, aggrecan type">Spondyloepimetaphyseal dysplasia, aggrecan type</a></span></li><li><span class="TLline"><a href="/medgen/335350" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia, Bieganski type">Spondyloepimetaphyseal dysplasia, Bieganski type</a></span></li><li><span class="TLline"><a href="/medgen/355314" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia, Genevieve type">Spondyloepimetaphyseal dysplasia, Genevieve type</a></span></li><li><span class="TLline"><a href="/medgen/461895" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia, Handigodu type">Spondyloepimetaphyseal dysplasia, Handigodu type</a></span></li><li><span class="TLline"><a href="/medgen/1676518" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia, Isidor type">Spondyloepimetaphyseal dysplasia, Isidor type</a></span></li><li><span class="TLline"><a href="/medgen/463613" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia, Maroteaux type">Spondyloepimetaphyseal dysplasia, Maroteaux type</a></span></li><li><span class="TLline"><a href="/medgen/325181" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia, matrilin-3 type">Spondyloepimetaphyseal dysplasia, matrilin-3 type</a></span></li><li><span class="TLline"><a href="/medgen/355563" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia, Missouri type">Spondyloepimetaphyseal dysplasia, Missouri type</a></span></li><li><span class="TLline"><a href="/medgen/411234" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia, PAPSS2 type">Spondyloepimetaphyseal dysplasia, PAPSS2 type</a></span></li><li><span class="TLline"><a href="/medgen/400703" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia, Shohat type">Spondyloepimetaphyseal dysplasia, Shohat type</a></span></li><li><span class="TLline"><a href="/medgen/147134" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia, Strudwick type">Spondyloepimetaphyseal dysplasia, Strudwick type</a></span></li><li><span class="TLline"><a href="/medgen/356550" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome">Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome</a></span></li><li><span class="TLline"><a href="/medgen/357120" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome">Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/338595" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome">Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome</a></span></li><li><span class="TLline"><a href="/medgen/412530" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia congenita">Spondyloepiphyseal dysplasia congenita</a></span></li><li><span class="TLline"><a href="/medgen/1778118" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia tarda">Spondyloepiphyseal dysplasia tarda</a></span></li><li><span class="TLline"><a href="/medgen/338603" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia tarda, Kohn type">Spondyloepiphyseal dysplasia tarda, Kohn type</a></span></li><li><span class="TLline"><a href="/medgen/355919" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability">Spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability</a></span></li><li><span class="TLline"><a href="/medgen/324580" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia with metatarsal shortening">Spondyloepiphyseal dysplasia with metatarsal shortening</a></span></li><li><span class="TLline"><a href="/medgen/435975" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia, Cantu type">Spondyloepiphyseal dysplasia, Cantu type</a></span></li><li><span class="TLline"><a href="/medgen/330777" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia, Kimberley type">Spondyloepiphyseal dysplasia, Kimberley type</a></span></li><li><span class="TLline"><a href="/medgen/401067" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia, MacDermot type">Spondyloepiphyseal dysplasia, MacDermot type</a></span></li><li><span class="TLline"><a href="/medgen/322238" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia, Reardon type">Spondyloepiphyseal dysplasia, Reardon type</a></span></li><li><span class="TLline"><a href="/medgen/1780157" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis">Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis</a></span></li><li><span class="TLline"><a href="/medgen/905084" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia, Stanescu type">Spondyloepiphyseal dysplasia, Stanescu type</a></span></li><li><span class="TLline"><a href="/medgen/163223" ref="tree=MeSH" title="MedGen record for Spondyloperipheral dysplasia">Spondyloperipheral dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/120521" ref="tree=MeSH" title="MedGen record for Stickler syndrome">Stickler syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1765197" ref="tree=MeSH" title="MedGen record for Autosomal recessive Stickler syndrome">Autosomal recessive Stickler syndrome</a></span></li><li><span class="TLline"><a href="/medgen/810955" ref="tree=MeSH" title="MedGen record for Stickler syndrome type 1">Stickler syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/347615" ref="tree=MeSH" title="MedGen record for Stickler syndrome type 2">Stickler syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/481571" ref="tree=MeSH" title="MedGen record for Stickler syndrome, type 4">Stickler syndrome, type 4</a></span></li><li><span class="TLline"><a href="/medgen/481972" ref="tree=MeSH" title="MedGen record for Stickler syndrome, type 5">Stickler syndrome, type 5</a></span></li><li><span class="TLline"><a href="/medgen/1823980" ref="tree=MeSH" title="MedGen record for Stickler syndrome, type 6">Stickler syndrome, type 6</a></span></li><li><span class="TLline"><a href="/medgen/322820" ref="tree=MeSH" title="MedGen record for Stickler syndrome, type I, nonsyndromic ocular">Stickler syndrome, type I, nonsyndromic ocular</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/140926" ref="tree=MeSH" title="MedGen record for Wolcott-Rallison dysplasia">Wolcott-Rallison dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1811349" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome">X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/376281" ref="tree=MeSH" title="MedGen record for X-linked spondyloepimetaphyseal dysplasia">X-linked spondyloepimetaphyseal dysplasia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_163223"><div><strong>Spondyloperipheral dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163223</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0796173</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Spondyloperipheral dysplasia is a disorder that impairs bone growth. The signs and symptoms of this condition can vary among affected individuals. People with spondyloperipheral dysplasia typically have short stature, with a short torso, short arms and legs, and short fingers and toes (brachydactyly). These parts of the body are not proportional to one another (disproportionate short stature) in people with this condition. Affected individuals also tend to have flattened bones of the spine (platyspondyly) and inward- and upward-turning feet (clubfoot). Some people with spondyloperipheral dysplasia may also experience nearsightedness (myopia) or hearing loss. </div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/163223">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_164078"><div><strong>Schimke immuno-osseous dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>164078</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0877024</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Schimke immunoosseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia (SED) resulting in short stature, nephropathy, and T cell deficiency. Radiographic manifestations of SED include ovoid and mildly flattened vertebral bodies, small ilia with shallow dysplastic acetabular fossae, and small deformed capital femoral epiphyses. Nearly all affected individuals have progressive steroid-resistant nephropathy, usually developing within five years of the diagnosis of growth failure and terminating with end-stage renal disease. The majority of tested individuals have T cell deficiency and an associated risk for opportunistic infection, a common cause of death. SIOD involves a spectrum that ranges from an infantile or severe early-onset form with a greater risk of death during childhood to a juvenile or milder later-onset form with likely survival into adulthood if renal disease is appropriately treated.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/164078">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_322238"><div><strong>Spondyloepiphyseal dysplasia, Reardon type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322238</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1833603</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/322238">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_373126"><div><strong>Spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373126</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836584</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/373126">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_373381"><div><strong>Spondyloepiphyseal dysplasia with congenital joint dislocations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373381</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1837657</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Chondrodysplasia with congenital joint dislocations, CHST3-related (CDCJD-CHST3) is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), clubfeet, and limitation of range of motion that can involve all large joints. Kyphosis and occasionally scoliosis with slight shortening of the trunk develop in childhood. Minor heart valve dysplasia has been described in several persons. Intellect and vision are normal.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/373381">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_325071"><div><strong>Spondyloepiphyseal dysplasia tarda with characteristic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325071</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1838653</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/325071">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_330777"><div><strong>Spondyloepiphyseal dysplasia, Kimberley type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330777</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1842149</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Kimberley-type spondyloepiphyseal dysplasia (SEDK) is a mild autosomal dominant SED with a phenotype of short stature, stocky build, and early-onset osteoarthritis of the weight-bearing joints (summary by Gleghorn et al., 2005).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/330777">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_375801"><div><strong>Roifman syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375801</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1846059</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">RNU4atac-opathy encompasses the phenotypic spectrum of biallelic RNU4ATAC pathogenic variants, including the three historically designated clinical phenotypes microcephalic osteodysplastic primordial dwarfism type I/III (MOPDI), Roifman syndrome, and Lowry-Wood syndrome, as well as varying combinations of the disease features / system involvement that do not match specific defined phenotypes. Findings present in all affected individuals include growth restriction, microcephaly, skeletal dysplasia, and cognitive impairment. Less common but variable findings include brain anomalies, seizures, strokes, immunodeficiency, and cardiac anomalies, as well as ophthalmologic, skin, renal, gastrointestinal, hearing, and endocrine involvement.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/375801">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_338603"><div><strong>Spondyloepiphyseal dysplasia tarda, Kohn type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338603</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849053</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/338603">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_338604"><div><strong>Spondyloepiphyseal dysplasia tarda, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338604</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849054</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autosomal recessive form of spondyloepiphyseal dysplasia tarda.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/338604">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_343374"><div><strong>Absence deformity of leg-cataract syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343374</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855523</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/343374">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_347615"><div><strong>Stickler syndrome type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347615</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1858084</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Pierre Robin sequence); and early-onset degenerative joint disease. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/347615">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_355785"><div><strong>Spondyloepiphyseal dysplasia tarda, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355785</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1866717</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/355785">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_810955"><div><strong>Stickler syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>810955</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2020284</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Pierre Robin sequence); and early-onset degenerative joint disease. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/810955">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_435975"><div><strong>Spondyloepiphyseal dysplasia, Cantu type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>435975</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2673649</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">An extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date with clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/435975">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_412530"><div><strong>Spondyloepiphyseal dysplasia congenita</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412530</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2745959</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/412530">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_443986"><div><strong>Morquio syndrome C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>443986</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2931140</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Morquio syndrome is an autosomal recessive mucopolysaccharidosis characterized by short trunk dwarfism, fine corneal opacities, skeletal changes, and normal intelligence. Morquio syndromes A (MPS4A; 253000) and B (MPS4B; 253010) are caused by mutations in the N-acetylglucosamine-6-sulfate sulfatase (GALNS; 612222) and beta-galactosidase (GLB1; 611458) genes, respectively. MPS4A and MPS4B are characterized biochemically by increased urinary excretion of keratan sulfate (Beck et al., 1986). There is some evidence of an additional form of Morquio syndrome, referred to here as type C, in which urinary excretion of keratan sulfate is absent. However, McKusick (1972) suggested that the nonkeratosulfate- excreting Morquio syndrome may be allelic to other forms of Morquio syndrome.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/443986">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_463613"><div><strong>Spondyloepimetaphyseal dysplasia, Maroteaux type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463613</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3159322</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The 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.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/463613">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_762085"><div><strong>Spondyloepiphyseal dysplasia tarda, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>762085</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3541456</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends of long bones (epiphyses) in the arms and legs. "Tarda" indicates that signs and symptoms of this condition are not present at birth, but appear later in childhood, typically between ages 6 and 10.\n\nMales with X-linked spondyloepiphyseal dysplasia tarda have skeletal abnormalities and short stature. Affected boys grow steadily until late childhood, when their growth slows. Their adult height ranges from 4 feet 6 inches (137 cm) to 5 feet 4 inches (163 cm). Impaired growth of the spinal bones (vertebrae) primarily causes the short stature. Spinal abnormalities include flattened vertebrae (platyspondyly) with hump-shaped bulges, progressive thinning of the discs between vertebrae, and an abnormal curvature of the spine (scoliosis or kyphosis). These spinal problems also cause back pain in people with this condition. Individuals with X-linked spondyloepiphyseal dysplasia tarda have a short torso and neck, and their arms are disproportionately long compared to their height.\n\nOther skeletal features of X-linked spondyloepiphyseal dysplasia tarda include an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara); multiple abnormalities of the epiphyses, including a short upper end of the thigh bone (femoral neck); and a broad, barrel-shaped chest. A painful joint condition called osteoarthritis that typically occurs in older adults often develops in early adulthood in people with X-linked spondyloepiphyseal dysplasia tarda and worsens over time, most often affecting the hips, knees, and shoulders.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/762085">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_905084"><div><strong>Spondyloepiphyseal dysplasia, Stanescu type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>905084</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225273</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Spondyloepiphyseal dysplasia with accumulation of glycoprotein in chondrocytes has been designated the 'Stanescu type.' Clinical hallmarks include progressive joint contracture with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Interphalangeal joints of the hands are swollen due to osseous distention of the metaphyseal ends of the phalanges. Affected individuals may be relatively tall despite the presence of a short trunk. Radiologically, there is generalized platyspondyly with mild modification of the endplates, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands. In addition, the proximal femora are characteristically broad and elongated with striking coxa valga (summary by Nishimura et al., 1998).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/905084">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1392054"><div><strong>Intellectual disability, X-linked, syndromic, 35</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1392054</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4478383</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1392054">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1683128"><div><strong>Spondyloepiphyseal dysplasia, kondo-fu type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1683128</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5193071</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">MBTPS1-related spondyloepimetaphyseal dysplasia with elevated lysosomal enzymes (MBTPS1-SEMD) is characterized by postnatal-onset short stature, chest deformity (pectus carinatum or pectus excavatum), kyphosis and/or scoliosis, reduced bone density, inguinal hernia, protruding abdomen, cataracts, developmental delay, and dysmorphic facial features (prominent forehead, prominent cheekbones, retromicrognathia, wide mouth, and large, prominent ears). Additional features can include waddling or staggering gait, craniosynostosis, mild intellectual disability, and seizures. Imaging findings include diffuse osteopenia, copper-beaten appearance of the skull, dysplasia of multiple thoracolumbar vertebrae, long bones with small and irregular epiphyses and mildly enlarged and irregular metaphyses, hip dysplasia with small fragmented sclerotic femoral heads, and short metacarpals and metatarsals with small epiphyses. Increased concentration of multiple lysosomal hydrolase enzymes can be identified in plasma and dried blood spots.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1683128">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1780157"><div><strong>Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1780157</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5543257</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">SHILCA is characterized by early-onset retinal degeneration in association with sensorineural hearing loss, short stature, vertebral anomalies, and epiphyseal dysplasia, as well as motor and intellectual delay. Delayed myelination, leukoencephalopathy, and hypoplasia of the corpus callosum and cerebellum have been observed on brain MRI (Bedoni et al., 2020).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1780157">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343374" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absence deformity of leg-cataract syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1392054" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, X-linked, syndromic, 35</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_443986" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Morquio syndrome C</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375801" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Roifman syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_164078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Schimke immuno-osseous dysplasia</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (23)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepimetaphyseal dysplasia, Maroteaux type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_412530" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia congenita</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325071" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia tarda with characteristic facies</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355785" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia tarda, autosomal dominant</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338604" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia tarda, autosomal recessive</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373126" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338603" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia tarda, Kohn type</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_762085" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia tarda, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373381" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia with congenital joint dislocations</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_435975" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia, Cantu type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_330777" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia, Kimberley type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1683128" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia, kondo-fu type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322238" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia, Reardon type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1780157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_905084" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia, Stanescu type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163223" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloperipheral dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_810955" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stickler syndrome type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347615" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stickler syndrome type 2</a></div></span></div></div>
|
||
</div>
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|
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/37128177">Evaluation of polysomnography findings in children with genetic skeletal disorders.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Nayır Büyükşahin H,
|
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Emiralioglu N,
|
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Simşek Kiper PÖ,
|
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Sunman B,
|
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Güzelkaş I,
|
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Alboğa D,
|
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Akgül Erdal M,
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Boduroglu K,
|
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Utine GE,
|
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Yalcın E,
|
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Doğru D,
|
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Kiper N,
|
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Ozcelik U</span><br />
|
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<span class="medgenPMjournal">J Sleep Res</span>
|
||
2023 Oct;32(5):e13914.
|
||
Epub 2023 May 1
|
||
doi: 10.1111/jsr.13914.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37128177" target="_blank">37128177</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33908178">Sleep-disordered breathing and its management in children with rare skeletal dysplasias.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen DB,
|
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Khirani S,
|
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Griffon L,
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Baujat G,
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Michot C,
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Marzin P,
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Rondeau S,
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Luscan R,
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Couloigner V,
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Pejin Z,
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Zerah M,
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Cormier-Daire V,
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Fauroux B</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 Jul;185(7):2108-2118.
|
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Epub 2021 Apr 28
|
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doi: 10.1002/ajmg.a.62236.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33908178" target="_blank">33908178</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26358419">Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Barat-Houari M,
|
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Baujat G,
|
||
Tran Mau Them F,
|
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Fabre A,
|
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Geneviève D,
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Touitou I</span><br />
|
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<span class="medgenPMjournal">Am J Med Genet A</span>
|
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2016 Jan;170A(1):263-5.
|
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Epub 2015 Sep 11
|
||
doi: 10.1002/ajmg.a.37374.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26358419" target="_blank">26358419</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22spondyloepiphyseal%20dysplasia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (6)</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/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/16080123">A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gleghorn L,
|
||
Ramesar R,
|
||
Beighton P,
|
||
Wallis G</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2005 Sep;77(3):484-90.
|
||
Epub 2005 Jul 22
|
||
doi: 10.1086/444401.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16080123" target="_blank">16080123</a><a href="/pmc/articles/PMC1226213" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4080742">Pattern recognition in bone dysplasias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spranger J</span><br />
|
||
<span class="medgenPMjournal">Prog Clin Biol Res</span>
|
||
1985;200:315-42.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4080742" target="_blank">4080742</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6803579">Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Horton WA,
|
||
Hall JG,
|
||
Scott CI,
|
||
Pyeritz RE,
|
||
Rimoin DL</span><br />
|
||
<span class="medgenPMjournal">Am J Dis Child</span>
|
||
1982 Apr;136(4):316-9.
|
||
doi: 10.1001/archpedi.1982.03970400034010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6803579" target="_blank">6803579</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4999590">X-linked spondyloepiphyseal dysplasia tarda: clinical and linkage data.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bannerman RM,
|
||
Ingall GB,
|
||
Mohn JF</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1971 Sep;8(3):291-301.
|
||
doi: 10.1136/jmg.8.3.291.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4999590" target="_blank">4999590</a><a href="/pmc/articles/PMC1469156" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spondyloepiphyseal%20dysplasia%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 (113)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27759355">Spondyloepihyseal Dysplasia Congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saigal R,
|
||
Chaudhary A,
|
||
Pathak P,
|
||
Singh A,
|
||
Gupta D,
|
||
Tank ML,
|
||
Nohria S,
|
||
Khatana D</span><br />
|
||
<span class="medgenPMjournal">J Assoc Physicians India</span>
|
||
2016 Jul;64(7):85-86.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27759355" target="_blank">27759355</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20055564">Spondyloepiphyseal dysplasia congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turner LM,
|
||
Steffensen TS,
|
||
Leroy J,
|
||
Gilbert-Barness E</span><br />
|
||
<span class="medgenPMjournal">Fetal Pediatr Pathol</span>
|
||
2010;29(1):57-62.
|
||
doi: 10.3109/15513810903266310.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20055564" target="_blank">20055564</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8157027">The type II collagenopathies: a spectrum of chondrodysplasias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spranger J,
|
||
Winterpacht A,
|
||
Zabel B</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
1994 Feb;153(2):56-65.
|
||
doi: 10.1007/BF01959208.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8157027" target="_blank">8157027</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4213775">Spondyloepiphyseal dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spranger J,
|
||
Langer LO</span><br />
|
||
<span class="medgenPMjournal">Birth Defects Orig Artic Ser</span>
|
||
1974;10(9):19-61.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4213775" target="_blank">4213775</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5412797">Spondyloepiphyseal dysplasia congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spranger JW,
|
||
Langer LO Jr</span><br />
|
||
<span class="medgenPMjournal">Radiology</span>
|
||
1970 Feb;94(2):313-22.
|
||
doi: 10.1148/94.2.313.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5412797" target="_blank">5412797</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spondyloepiphyseal%20dysplasia%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 (194)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38511620">A further case of chondrodysplasia with growth failure occurring after hematopoietic stem cell transplantation (HSCT).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kavanagh K,
|
||
Coleman J,
|
||
O'Connell SM,
|
||
Fhoghlú CN,
|
||
Moore DP,
|
||
Brenner C,
|
||
Lynch SA</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2024 Jul;194(7):e63603.
|
||
Epub 2024 Mar 21
|
||
doi: 10.1002/ajmg.a.63603.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38511620" target="_blank">38511620</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35502749">Treatment outcomes of hips in patients with epiphyseal dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lindgren AM,
|
||
Bomar JD,
|
||
Upasani VV,
|
||
Wenger DR</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop B</span>
|
||
2022 Nov 1;31(6):554-559.
|
||
Epub 2022 May 3
|
||
doi: 10.1097/BPB.0000000000000982.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35502749" target="_blank">35502749</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28688555">Airway stenting in a child with spondyloepiphyseal dysplasia congenita: 13-Year survival.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nenna R,
|
||
Midulla F,
|
||
Masi L,
|
||
Bacci GM,
|
||
Frassanito A,
|
||
Baggi R,
|
||
Brandi ML,
|
||
Avenali S,
|
||
Mirabile L,
|
||
Serio P</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2017 Aug;99:13-16.
|
||
Epub 2017 May 22
|
||
doi: 10.1016/j.ijporl.2017.05.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28688555" target="_blank">28688555</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25345096">Morquio A syndrome: diagnosis and current and future therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tomatsu S,
|
||
Yasuda E,
|
||
Patel P,
|
||
Ruhnke K,
|
||
Shimada T,
|
||
Mackenzie WG,
|
||
Mason R,
|
||
Thacker MM,
|
||
Theroux M,
|
||
Montaño AM,
|
||
Alméciga-Díaz CJ,
|
||
Barrera LA,
|
||
Chinen Y,
|
||
Sly WS,
|
||
Rowan D,
|
||
Suzuki Y,
|
||
Orii T</span><br />
|
||
<span class="medgenPMjournal">Pediatr Endocrinol Rev</span>
|
||
2014 Sep;12 Suppl 1(0 1):141-51.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25345096" target="_blank">25345096</a><a href="/pmc/articles/PMC4259875" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18389260">Fusions at the craniovertebral junction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ahmed R,
|
||
Traynelis VC,
|
||
Menezes AH</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2008 Oct;24(10):1209-24.
|
||
Epub 2008 Apr 4
|
||
doi: 10.1007/s00381-008-0607-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18389260" target="_blank">18389260</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spondyloepiphyseal%20dysplasia%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 (29)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29779902">Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peracha H,
|
||
Sawamoto K,
|
||
Averill L,
|
||
Kecskemethy H,
|
||
Theroux M,
|
||
Thacker M,
|
||
Nagao K,
|
||
Pizarro C,
|
||
Mackenzie W,
|
||
Kobayashi H,
|
||
Yamaguchi S,
|
||
Suzuki Y,
|
||
Orii K,
|
||
Orii T,
|
||
Fukao T,
|
||
Tomatsu S</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2018 Sep;125(1-2):18-37.
|
||
Epub 2018 May 15
|
||
doi: 10.1016/j.ymgme.2018.05.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29779902" target="_blank">29779902</a><a href="/pmc/articles/PMC6175643" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28196778">Mucopolysaccharidoses seen in adults in rheumatology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mitrovic S,
|
||
Gouze H,
|
||
Gossec L,
|
||
Schaeverbeke T,
|
||
Fautrel B</span><br />
|
||
<span class="medgenPMjournal">Joint Bone Spine</span>
|
||
2017 Dec;84(6):663-670.
|
||
Epub 2017 Feb 11
|
||
doi: 10.1016/j.jbspin.2017.01.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28196778" target="_blank">28196778</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27059630">Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu L,
|
||
Pang Q,
|
||
Jiang Y,
|
||
Li M,
|
||
Wang O,
|
||
Xia W</span><br />
|
||
<span class="medgenPMjournal">Eur Spine J</span>
|
||
2016 Sep;25(9):2967-74.
|
||
Epub 2016 Apr 8
|
||
doi: 10.1007/s00586-016-4559-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27059630" target="_blank">27059630</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12923858">Double heterozygosity in bone growth disorders: four new observations and review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Flynn MA,
|
||
Pauli RM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2003 Sep 1;121A(3):193-208.
|
||
doi: 10.1002/ajmg.a.20143.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12923858" target="_blank">12923858</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1870932">Spondylometepiphyseal dysplasia congenita, Strudwick type.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shebib SM,
|
||
Chudley AE,
|
||
Reed MH</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
1991;21(4):298-300.
|
||
doi: 10.1007/BF02018630.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1870932" target="_blank">1870932</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spondyloepiphyseal%20dysplasia%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 (80)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34010451">Growth hormone therapy in a boy with X-linked spondyloepiphyseal dysplasia tarda: a 3-year observation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Y,
|
||
Wu H,
|
||
Li H</span><br />
|
||
<span class="medgenPMjournal">Endokrynol Pol</span>
|
||
2021;72(4):410-411.
|
||
Epub 2021 May 19
|
||
doi: 10.5603/EP.a2021.0051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34010451" target="_blank">34010451</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27059630">Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu L,
|
||
Pang Q,
|
||
Jiang Y,
|
||
Li M,
|
||
Wang O,
|
||
Xia W</span><br />
|
||
<span class="medgenPMjournal">Eur Spine J</span>
|
||
2016 Sep;25(9):2967-74.
|
||
Epub 2016 Apr 8
|
||
doi: 10.1007/s00586-016-4559-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27059630" target="_blank">27059630</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12923858">Double heterozygosity in bone growth disorders: four new observations and review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Flynn MA,
|
||
Pauli RM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2003 Sep 1;121A(3):193-208.
|
||
doi: 10.1002/ajmg.a.20143.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12923858" target="_blank">12923858</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12917109">Depletion of cartilage collagen fibrils in mice carrying a dominant negative Col2a1 transgene affects chondrocyte differentiation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barbieri O,
|
||
Astigiano S,
|
||
Morini M,
|
||
Tavella S,
|
||
Schito A,
|
||
Corsi A,
|
||
Di Martino D,
|
||
Bianco P,
|
||
Cancedda R,
|
||
Garofalo S</span><br />
|
||
<span class="medgenPMjournal">Am J Physiol Cell Physiol</span>
|
||
2003 Dec;285(6):C1504-12.
|
||
Epub 2003 Aug 13
|
||
doi: 10.1152/ajpcell.00579.2002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12917109" target="_blank">12917109</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2896625">The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Francomano CA,
|
||
Liberfarb RM,
|
||
Hirose T,
|
||
Maumenee IH,
|
||
Streeten EA,
|
||
Meyers DA,
|
||
Pyeritz RE</span><br />
|
||
<span class="medgenPMjournal">Genomics</span>
|
||
1987 Dec;1(4):293-6.
|
||
doi: 10.1016/0888-7543(87)90027-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2896625" target="_blank">2896625</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spondyloepiphyseal%20dysplasia%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 (114)</a></div></div>
|
||
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|
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
|
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<div class="nl"><a target="_blank" href="/pubmed/36729370">A Chinese case of CHST3-related skeletal dysplasia and a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liang H,
|
||
Qi W,
|
||
Jin C,
|
||
Pang Q,
|
||
Cui L,
|
||
Jiang Y,
|
||
Wang O,
|
||
Li M,
|
||
Xing X,
|
||
Liu W,
|
||
Xia W</span><br />
|
||
<span class="medgenPMjournal">Endocrine</span>
|
||
2023 Jun;80(3):658-668.
|
||
Epub 2023 Feb 2
|
||
doi: 10.1007/s12020-023-03303-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36729370" target="_blank">36729370</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spondyloepiphyseal%20dysplasia%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
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|
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|
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|
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|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
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|
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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0038015%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0038015%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
|
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<li><a href="/gtr/tests?term=C0038015%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0038015%5bDISCUI%5d" target="_blank">See all (3)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=253" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Spondyloepiphyseal%20dysplasia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22spondyloepiphyseal%20dysplasia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/spondyloepiphyseal_dysplasia_congenita" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Spondyloepiphyseal%20dysplasia" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/7687/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/clinical?term=Spondyloepiphyseal%20dysplasia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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