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<!--
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||
UID=4430
|
||
ConceptID=C0013393
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Dysostosis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4430</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.">C0013393</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Dysostoses</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Dysostosis (109420003)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018234" target="_blank">MONDO:0018234</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=364559">ORPHA364559</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 defect in ossification of bone. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</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>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</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 unavailable" title="ClinVar">V</span></span><span class="TLline">Dysostosis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/272508" ref="tree=MeSH" title="MedGen record for Connective and Soft Tissue Disorder">Connective and Soft Tissue Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/6471" ref="tree=MeSH" title="MedGen record for Musculoskeletal system disorder">Musculoskeletal system disorder</a></span><ul><li><span class="TLline"><a href="/medgen/14182" ref="tree=MeSH" title="MedGen record for Disorder of bone">Disorder of bone</a></span><ul><li><span class="TLline"><a href="/medgen/2309" ref="tree=MeSH" title="MedGen record for Bone development disease">Bone development disease</a></span><ul><li><span class="matched_ds">Dysostosis</span><ul><li><span class="TLline"><a href="/medgen/272278" ref="tree=MeSH" title="MedGen record for Acrofacial dysostosis">Acrofacial dysostosis</a></span><ul><li><span class="TLline"><a href="/medgen/349738" ref="tree=MeSH" title="MedGen record for Acrocraniofacial dysostosis">Acrocraniofacial dysostosis</a></span></li><li><span class="TLline"><a href="/medgen/957516" ref="tree=MeSH" title="MedGen record for Acrodysostosis with multiple hormone resistance">Acrodysostosis with multiple hormone resistance</a></span></li><li><span class="TLline"><a href="/medgen/349730" ref="tree=MeSH" title="MedGen record for Acrofacial dysostosis Rodriguez type">Acrofacial dysostosis Rodriguez type</a></span></li><li><span class="TLline"><a href="/medgen/419487" ref="tree=MeSH" title="MedGen record for Acrofacial dysostosis, Catania type">Acrofacial dysostosis, Catania type</a></span></li><li><span class="TLline"><a href="/medgen/929763" ref="tree=MeSH" title="MedGen record for Acrofacial dysostosis, Kennedy-Teebi type">Acrofacial dysostosis, Kennedy-Teebi type</a></span></li><li><span class="TLline"><a href="/medgen/355645" ref="tree=MeSH" title="MedGen record for Acrofacial dysostosis, Palagonia type">Acrofacial dysostosis, Palagonia type</a></span></li><li><span class="TLline"><a href="/medgen/349729" ref="tree=MeSH" title="MedGen record for Acrofrontofacionasal dysostosis">Acrofrontofacionasal dysostosis</a></span><ul><li><span class="TLline"><a href="/medgen/1632008" ref="tree=MeSH" title="MedGen record for Acrofrontofacionasal dysostosis 1">Acrofrontofacionasal dysostosis 1</a></span></li><li><span class="TLline"><a href="/medgen/383797" ref="tree=MeSH" title="MedGen record for Acrofrontofacionasal dysostosis type 2">Acrofrontofacionasal dysostosis type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/350933" ref="tree=MeSH" title="MedGen record for Acromelic frontonasal dysostosis">Acromelic frontonasal dysostosis</a></span></li><li><span class="TLline"><a href="/medgen/65095" ref="tree=MeSH" title="MedGen record for Craniofrontonasal syndrome">Craniofrontonasal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/141594" ref="tree=MeSH" title="MedGen record for Curry-Hall syndrome">Curry-Hall syndrome</a></span></li><li><span class="TLline"><a href="/medgen/355264" ref="tree=MeSH" title="MedGen record for Mandibulofacial dysostosis-microcephaly syndrome">Mandibulofacial dysostosis-microcephaly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120522" ref="tree=MeSH" title="MedGen record for Miller syndrome">Miller syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120519" ref="tree=MeSH" title="MedGen record for Nager syndrome">Nager syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1808766" ref="tree=MeSH" title="MedGen record for Patterson-Stevenson-Fontaine syndrome">Patterson-Stevenson-Fontaine syndrome</a></span></li><li><span class="TLline"><a href="/medgen/336581" ref="tree=MeSH" title="MedGen record for Richieri Costa-Pereira syndrome">Richieri Costa-Pereira syndrome</a></span></li><li><span class="TLline"><a href="/medgen/375543" ref="tree=MeSH" title="MedGen record for X-linked mandibulofacial dysostosis">X-linked mandibulofacial dysostosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75577" ref="tree=MeSH" title="MedGen record for Congenital pseudoarthrosis of clavicle">Congenital pseudoarthrosis of clavicle</a></span></li><li><span class="TLline"><a href="/medgen/1162" ref="tree=MeSH" title="MedGen record for Crouzon syndrome">Crouzon syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/870229" ref="tree=MeSH" title="MedGen record for Congenital craniofacial dysostosis">Congenital craniofacial dysostosis</a></span></li><li><span class="TLline"><a href="/medgen/5414" ref="tree=MeSH" title="MedGen record for Hallermann-Streiff syndrome">Hallermann-Streiff syndrome</a></span></li><li><span class="TLline"><a href="/medgen/9373" ref="tree=MeSH" title="MedGen record for Hypertelorism">Hypertelorism</a></span></li><li><span class="TLline"><a href="/medgen/505796" ref="tree=MeSH" title="MedGen record for Mandibulofacial dysostosis">Mandibulofacial dysostosis</a></span><ul><li><span class="TLline"><a href="/medgen/113097" ref="tree=MeSH" title="MedGen record for Acrodysostosis">Acrodysostosis</a></span></li><li><span class="TLline"><a href="/medgen/898794" ref="tree=MeSH" title="MedGen record for Mandibulofacial dysostosis with alopecia">Mandibulofacial dysostosis with alopecia</a></span></li><li><span class="TLline"><a href="/medgen/355927" ref="tree=MeSH" title="MedGen record for Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome">Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/66078" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome">Treacher Collins syndrome</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/42055" ref="tree=MeSH" title="MedGen record for Focal dermal hypoplasia">Focal dermal hypoplasia</a></span></li><li><span class="TLline"><a href="/medgen/9645" ref="tree=MeSH" title="MedGen record for Klippel-Feil syndrome">Klippel-Feil syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/980916" ref="tree=MeSH" title="MedGen record for Isolated Klippel-Feil syndrome">Isolated Klippel-Feil syndrome</a></span></li><li><span class="TLline"><a href="/medgen/894399" ref="tree=MeSH" title="MedGen record for Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome">Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/396196" ref="tree=MeSH" title="MedGen record for Klippel-Feil syndrome 1, autosomal dominant">Klippel-Feil syndrome 1, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/395201" ref="tree=MeSH" title="MedGen record for Klippel-Feil syndrome 2, autosomal recessive">Klippel-Feil syndrome 2, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/462317" ref="tree=MeSH" title="MedGen record for Klippel-Feil syndrome 3, autosomal dominant">Klippel-Feil syndrome 3, autosomal dominant</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/14518" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome">Orofaciodigital syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/10077" ref="tree=MeSH" title="MedGen record for Mohr syndrome">Mohr syndrome</a></span></li><li><span class="TLline"><a href="/medgen/993107" ref="tree=MeSH" title="MedGen record for Oral-facial-digital syndrome with short stature and brachymesophalangy">Oral-facial-digital syndrome with short stature and brachymesophalangy</a></span></li><li><span class="TLline"><a href="/medgen/96069" ref="tree=MeSH" title="MedGen record for Orofacial-digital syndrome III">Orofacial-digital syndrome III</a></span></li><li><span class="TLline"><a href="/medgen/98358" ref="tree=MeSH" title="MedGen record for Orofacial-digital syndrome IV">Orofacial-digital syndrome IV</a></span></li><li><span class="TLline"><a href="/medgen/307142" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome I">Orofaciodigital syndrome I</a></span></li><li><span class="TLline"><a href="/medgen/162908" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome IX">Orofaciodigital syndrome IX</a></span></li><li><span class="TLline"><a href="/medgen/411200" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome type 6">Orofaciodigital syndrome type 6</a></span></li><li><span class="TLline"><a href="/medgen/420948" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome type 12">Orofaciodigital syndrome type 12</a></span></li><li><span class="TLline"><a href="/medgen/420203" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome type 13">Orofaciodigital syndrome type 13</a></span></li><li><span class="TLline"><a href="/medgen/1635470" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome type 14">Orofaciodigital syndrome type 14</a></span></li><li><span class="TLline"><a href="/medgen/358131" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome V">Orofaciodigital syndrome V</a></span></li><li><span class="TLline"><a href="/medgen/208667" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome VIII">Orofaciodigital syndrome VIII</a></span></li><li><span class="TLline"><a href="/medgen/322280" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome X">Orofaciodigital syndrome X</a></span></li><li><span class="TLline"><a href="/medgen/416694" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome XI">Orofaciodigital syndrome XI</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/48517" ref="tree=MeSH" title="MedGen record for Rubinstein-Taybi syndrome">Rubinstein-Taybi syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/350477" ref="tree=MeSH" title="MedGen record for Rubinstein-Taybi syndrome due to 16p13.3 microdeletion">Rubinstein-Taybi syndrome due to 16p13.3 microdeletion</a></span></li><li><span class="TLline"><a href="/medgen/1639327" ref="tree=MeSH" title="MedGen record for Rubinstein-Taybi syndrome due to CREBBP mutations">Rubinstein-Taybi syndrome due to CREBBP mutations</a></span></li><li><span class="TLline"><a href="/medgen/462291" ref="tree=MeSH" title="MedGen record for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency">Rubinstein-Taybi syndrome due to EP300 haploinsufficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82707" ref="tree=MeSH" title="MedGen record for Spondylocostal dysostosis">Spondylocostal dysostosis</a></span><ul><li><span class="TLline"><a href="/medgen/834047" ref="tree=MeSH" title="MedGen record for Autosomal recessive spondylocostal dysostosis">Autosomal recessive spondylocostal dysostosis</a></span><ul><li><span class="TLline"><a href="/medgen/834049" ref="tree=MeSH" title="MedGen record for Spondylocostal dysostosis 1, autosomal recessive">Spondylocostal dysostosis 1, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/332481" ref="tree=MeSH" title="MedGen record for Spondylocostal dysostosis 2, autosomal recessive">Spondylocostal dysostosis 2, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/377871" ref="tree=MeSH" title="MedGen record for Spondylocostal dysostosis 3, autosomal recessive">Spondylocostal dysostosis 3, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/462292" ref="tree=MeSH" title="MedGen record for Spondylocostal dysostosis 4, autosomal recessive">Spondylocostal dysostosis 4, autosomal recessive</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/901825" ref="tree=MeSH" title="MedGen record for Spondylocostal dysostosis 5">Spondylocostal dysostosis 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/11689" ref="tree=MeSH" title="MedGen record for Synostosis">Synostosis</a></span><ul><li><span class="TLline"><a href="/medgen/389937" ref="tree=MeSH" title="MedGen record for Antley-Bixler Syndrome Phenotype">Antley-Bixler Syndrome Phenotype</a></span></li><li><span class="TLline"><a href="/medgen/1163" ref="tree=MeSH" title="MedGen record for Craniosynostosis syndrome">Craniosynostosis syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/267602" ref="tree=MeSH" title="MedGen record for Acrocephalosyndactyly">Acrocephalosyndactyly</a></span></li><li><span class="TLline"><a href="/medgen/344694" ref="tree=MeSH" title="MedGen record for Coronal craniosynostosis">Coronal craniosynostosis</a></span></li><li><span class="TLline"><a href="/medgen/346753" ref="tree=MeSH" title="MedGen record for Craniosynostosis 2">Craniosynostosis 2</a></span></li><li><span class="TLline"><a href="/medgen/322167" ref="tree=MeSH" title="MedGen record for Craniosynostosis 4">Craniosynostosis 4</a></span></li><li><span class="TLline"><a href="/medgen/866807" ref="tree=MeSH" title="MedGen record for Multiple suture craniosynostosis">Multiple suture craniosynostosis</a></span></li><li><span class="TLline"><a href="/medgen/140921" ref="tree=MeSH" title="MedGen record for Sagittal craniosynostosis">Sagittal craniosynostosis</a></span></li><li><span class="TLline"><a href="/medgen/1863703" ref="tree=MeSH" title="MedGen record for Squamosal suture synostosis">Squamosal suture synostosis</a></span></li><li><span class="TLline"><a href="/medgen/811568" ref="tree=MeSH" title="MedGen record for TCF12-related craniosynostosis">TCF12-related craniosynostosis</a></span></li><li><span class="TLline"><a href="/medgen/1646646" ref="tree=MeSH" title="MedGen record for TWIST1-related craniosynostosis">TWIST1-related craniosynostosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/52619" ref="tree=MeSH" title="MedGen record for Syndactyly">Syndactyly</a></span><ul><li><span class="TLline"><a href="/medgen/82692" ref="tree=MeSH" title="MedGen record for Cryptophthalmos syndrome">Cryptophthalmos syndrome</a></span></li><li><span class="TLline"><a href="/medgen/396250" ref="tree=MeSH" title="MedGen record for Cutaneous syndactyly">Cutaneous syndactyly</a></span></li><li><span class="TLline"><a href="/medgen/65139" ref="tree=MeSH" title="MedGen record for Finger syndactyly">Finger syndactyly</a></span></li><li><span class="TLline"><a href="/medgen/1842957" ref="tree=MeSH" title="MedGen record for Non-syndromic syndactyly">Non-syndromic syndactyly</a></span></li><li><span class="TLline"><a href="/medgen/10822" ref="tree=MeSH" title="MedGen record for Poland anomaly">Poland anomaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/539393" ref="tree=MeSH" title="MedGen record for Tarsal synostosis">Tarsal synostosis</a></span><ul><li><span class="TLline"><a href="/medgen/870288" ref="tree=MeSH" title="MedGen record for Calcaneonavicular fusion">Calcaneonavicular fusion</a></span></li><li><span class="TLline"><a href="/medgen/870676" ref="tree=MeSH" title="MedGen record for Coalescence of tarsal bones">Coalescence of tarsal bones</a></span></li><li><span class="TLline"><a href="/medgen/336197" ref="tree=MeSH" title="MedGen record for Partial fusion of tarsals">Partial fusion of tarsals</a></span></li><li><span class="TLline"><a href="/medgen/870701" ref="tree=MeSH" title="MedGen record for Talocalcaneal synostosis">Talocalcaneal synostosis</a></span></li><li><span class="TLline"><a href="/medgen/867755" ref="tree=MeSH" title="MedGen record for Tarsometatarsal synostosis">Tarsometatarsal synostosis</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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||
<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/38369333">Early prenatal diagnosis of spondylocostal dysostosis caused by a novel variant in MESP2.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou Y,
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||
Chen G,
|
||
Li F,
|
||
Huang L,
|
||
Han J</span><br />
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||
<span class="medgenPMjournal">Congenit Anom (Kyoto)</span>
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||
2024 Mar;64(2):61-62.
|
||
Epub 2024 Feb 18
|
||
doi: 10.1111/cga.12554.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38369333" target="_blank">38369333</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34573374">Treacher Collins Syndrome: Genetics, Clinical Features and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marszałek-Kruk BA,
|
||
Wójcicki P,
|
||
Dowgierd K,
|
||
Śmigiel R</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Sep 9;12(9)
|
||
doi: 10.3390/genes12091392.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34573374" target="_blank">34573374</a><a href="/pmc/articles/PMC8470852" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6463027">Prenatal diagnosis of mandibulofacial dysostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nicolaides KH,
|
||
Johansson D,
|
||
Donnai D,
|
||
Rodeck CH</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
1984 May-Jun;4(3):201-5.
|
||
doi: 10.1002/pd.1970040307.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6463027" target="_blank">6463027</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22dysostosis%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 (31)</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/23565775">Human facial dysostoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wieczorek D</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2013 Jun;83(6):499-510.
|
||
Epub 2013 Apr 8
|
||
doi: 10.1111/cge.12123.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23565775" target="_blank">23565775</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7572098">Abnormal craniofacial growth.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friede H</span><br />
|
||
<span class="medgenPMjournal">Acta Odontol Scand</span>
|
||
1995 Jun;53(3):203-9.
|
||
doi: 10.3109/00016359509005973.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7572098" target="_blank">7572098</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7833394">Noncraniofacial manifestations of Crouzon's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Proudman TW,
|
||
Moore MH,
|
||
Abbott AH,
|
||
David DJ</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
1994 Sep;5(4):218-22.
|
||
doi: 10.1097/00001665-199409000-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7833394" target="_blank">7833394</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3614607">Craniosynostosis and hydrocephalus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Golabi M,
|
||
Edwards MS,
|
||
Ousterhout DK</span><br />
|
||
<span class="medgenPMjournal">Neurosurgery</span>
|
||
1987 Jul;21(1):63-7.
|
||
doi: 10.1227/00006123-198707000-00013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3614607" target="_blank">3614607</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4521445">Results after midface-osteotomies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Freihofer HP Jr</span><br />
|
||
<span class="medgenPMjournal">J Maxillofac Surg</span>
|
||
1973 Mar;1(1):30-6.
|
||
doi: 10.1016/s0301-0503(73)80009-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4521445" target="_blank">4521445</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dysostosis%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 (827)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34573374">Treacher Collins Syndrome: Genetics, Clinical Features and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marszałek-Kruk BA,
|
||
Wójcicki P,
|
||
Dowgierd K,
|
||
Śmigiel R</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Sep 9;12(9)
|
||
doi: 10.3390/genes12091392.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34573374" target="_blank">34573374</a><a href="/pmc/articles/PMC8470852" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30189431">Fetal Skeletal Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schramm T,
|
||
Mommsen H</span><br />
|
||
<span class="medgenPMjournal">Ultraschall Med</span>
|
||
2018 Dec;39(6):610-634.
|
||
Epub 2018 Sep 6
|
||
doi: 10.1055/a-0660-9417.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30189431" target="_blank">30189431</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25543163">Nager syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lansinger Y,
|
||
Rayan G</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2015 Apr;40(4):851-4.
|
||
Epub 2014 Dec 24
|
||
doi: 10.1016/j.jhsa.2014.10.064.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25543163" target="_blank">25543163</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25171992">Craniosynostosis syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dicus Brookes C,
|
||
Golden BA,
|
||
Turvey TA</span><br />
|
||
<span class="medgenPMjournal">Atlas Oral Maxillofac Surg Clin North Am</span>
|
||
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<div class="portlet_content ln"><span class="medgenPMauthor">Silve C,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dysostosis%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 (500)</a></div></div>
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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/37468803">Miller Fischer syndrome after COVID-19 infection and vaccine: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neophytou P,
|
||
Artemiadis A,
|
||
Hadjigeorgiou GM,
|
||
Zis P</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Belg</span>
|
||
2023 Oct;123(5):1693-1701.
|
||
Epub 2023 Jul 19
|
||
doi: 10.1007/s13760-023-02336-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37468803" target="_blank">37468803</a><a href="/pmc/articles/PMC10505097" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36203321">A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ulhaq ZS,
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Nurputra DK,
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Soraya GV,
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Kurniawati S,
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Istifiani LA,
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Pamungkas SA,
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Tse WKF</span><br />
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<span class="medgenPMjournal">Clin Genet</span>
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2023 Feb;103(2):146-155.
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Epub 2022 Oct 17
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doi: 10.1111/cge.14243.
|
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<span class="bold">PMID: </span><a href="/pubmed/36203321" target="_blank">36203321</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35293298">Clinical and Molecular Heterogeneity of Silver-Russell Syndrome and Therapeutic Challenges: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Singh A,
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Pajni K,
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Panigrahi I,
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Khetarpal P</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/35293298" target="_blank">35293298</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29239919">Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Amirhassankhani S,
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<span class="medgenPMjournal">J Craniofac Surg</span>
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2018 Mar;29(2):372-375.
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<span class="bold">PMID: </span><a href="/pubmed/29239919" target="_blank">29239919</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/22872275">Complications of frontofacial advancement.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Dunaway DJ,
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Britto JA,
|
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Abela C,
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Evans RD,
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<span class="medgenPMjournal">Childs Nerv Syst</span>
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<span class="bold">PMID: </span><a href="/pubmed/22872275" target="_blank">22872275</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dysostosis%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 (13)</a></div></div>
|
||
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|
||
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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=(%22dysostosis%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Dysostosis%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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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