publicdata/nih-gov
1
0
Fork 0
Code Issues Pull requests Projects Releases Packages Wiki Activity Actions
nih-gov/www.ncbi.nlm.nih.gov/omim/302960

4054 lines
360 KiB
Text
Raw Permalink Blame History

<!DOCTYPE html>
<html xmlns="http://www.w3.org/1999/xhtml" lang="en-us" xml:lang="en-us" >
<head>
<!--
################################# CRAWLER WARNING #################################
- The terms of service and the robots.txt file disallows crawling of this site,
please see https://omim.org/help/agreement for more information.
- A number of data files are available for download at https://omim.org/downloads.
- We have an API which you can learn about at https://omim.org/help/api and register
for at https://omim.org/api, this provides access to the data in JSON & XML formats.
- You should feel free to contact us at https://omim.org/contact to figure out the best
approach to getting the data you need for your work.
- WE WILL AUTOMATICALLY BLOCK YOUR IP ADDRESS IF YOU CRAWL THIS SITE.
- WE WILL ALSO AUTOMATICALLY BLOCK SUB-DOMAINS AND ADDRESS RANGES IMPLICATED IN
DISTRIBUTED CRAWLS OF THIS SITE.
################################# CRAWLER WARNING #################################
-->
<meta http-equiv="content-type" content="text/html; charset=utf-8" />
<meta http-equiv="cache-control" content="no-cache" />
<meta http-equiv="pragma" content="no-cache" />
<meta name="robots" content="index, follow" />
<meta name="viewport" content="width=device-width, initial-scale=1" />
<meta http-equiv="X-UA-Compatible" content="IE=edge" />
<meta name="title" content="Online Mendelian Inheritance in Man (OMIM)" />
<meta name="description" content="Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative
compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text,
referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes.
OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries
contain copious links to other genetics resources." />
<meta name="keywords" content="Mendelian Inheritance in Man, OMIM, Mendelian diseases, Mendelian disorders, genetic diseases,
genetic disorders, genetic disorders in humans, genetic phenotypes, phenotype and genotype, disease models, alleles,
genes, dna, genetics, dna testing, gene testing, clinical synopsis, medical genetics" />
<meta name="theme-color" content="#333333" />
<link rel="icon" href="/static/omim/favicon.png" />
<link rel="apple-touch-icon" href="/static/omim/favicon.png" />
<link rel="manifest" href="/static/omim/manifest.json" />
<script id='mimBrowserCapability'>
function _0x5069(){const _0x4b1387=['91sZIeLc','mimBrowserCapability','15627zshTnf','710004yxXedd','34LxqNYj','match','disconnect','1755955rnzTod','observe','1206216ZRfBWB','575728fqgsYy','webdriver','documentElement','close','open','3086704utbakv','7984143PpiTpt'];_0x5069=function(){return _0x4b1387;};return _0x5069();}function _0xe429(_0x472ead,_0x43eb70){const _0x506916=_0x5069();return _0xe429=function(_0xe42949,_0x1aaefc){_0xe42949=_0xe42949-0x1a9;let _0xe6add8=_0x506916[_0xe42949];return _0xe6add8;},_0xe429(_0x472ead,_0x43eb70);}(function(_0x337daa,_0x401915){const _0x293f03=_0xe429,_0x5811dd=_0x337daa();while(!![]){try{const _0x3dc3a3=parseInt(_0x293f03(0x1b4))/0x1*(-parseInt(_0x293f03(0x1b6))/0x2)+parseInt(_0x293f03(0x1b5))/0x3+parseInt(_0x293f03(0x1b0))/0x4+-parseInt(_0x293f03(0x1b9))/0x5+parseInt(_0x293f03(0x1aa))/0x6+-parseInt(_0x293f03(0x1b2))/0x7*(parseInt(_0x293f03(0x1ab))/0x8)+parseInt(_0x293f03(0x1b1))/0x9;if(_0x3dc3a3===_0x401915)break;else _0x5811dd['push'](_0x5811dd['shift']());}catch(_0x4dd27b){_0x5811dd['push'](_0x5811dd['shift']());}}}(_0x5069,0x84d63),(function(){const _0x9e4c5f=_0xe429,_0x363a26=new MutationObserver(function(){const _0x458b09=_0xe429;if(document!==null){let _0x2f0621=![];navigator[_0x458b09(0x1ac)]!==![]&&(_0x2f0621=!![]);for(const _0x427dda in window){_0x427dda[_0x458b09(0x1b7)](/cdc_[a-z0-9]/ig)&&(_0x2f0621=!![]);}_0x2f0621===!![]?document[_0x458b09(0x1af)]()[_0x458b09(0x1ae)]():(_0x363a26[_0x458b09(0x1b8)](),document['getElementById'](_0x458b09(0x1b3))['remove']());}});_0x363a26[_0x9e4c5f(0x1a9)](document[_0x9e4c5f(0x1ad)],{'childList':!![]});}()));
</script>
<link rel='preconnect' href='https://cdn.jsdelivr.net' />
<link rel='preconnect' href='https://cdnjs.cloudflare.com' />
<link rel="preconnect" href="https://www.googletagmanager.com" />
<script src="https://cdn.jsdelivr.net/npm/jquery@3.7.1/dist/jquery.min.js" integrity="sha256-/JqT3SQfawRcv/BIHPThkBvs0OEvtFFmqPF/lYI/Cxo=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/jquery-migrate@3.5.2/dist/jquery-migrate.js" integrity="sha256-ThFcNr/v1xKVt5cmolJIauUHvtXFOwwqiTP7IbgP8EU=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/js/bootstrap.min.js" integrity="sha256-nuL8/2cJ5NDSSwnKD8VqreErSWHtnEP9E7AySL+1ev4=" crossorigin="anonymous"></script>
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap.min.css" integrity="sha256-bZLfwXAP04zRMK2BjiO8iu9pf4FbLqX6zitd+tIvLhE=" crossorigin="anonymous">
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap-theme.min.css" integrity="sha256-8uHMIn1ru0GS5KO+zf7Zccf8Uw12IA5DrdEcmMuWLFM=" crossorigin="anonymous">
<script src="https://cdn.jsdelivr.net/npm/moment@2.29.4/min/moment.min.js" integrity="sha256-80OqMZoXo/w3LuatWvSCub9qKYyyJlK0qnUCYEghBx8=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/js/bootstrap-datetimepicker.min.js" integrity="sha256-dYxUtecag9x4IaB2vUNM34sEso6rWTgEche5J6ahwEQ=" crossorigin="anonymous"></script>
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/css/bootstrap-datetimepicker.min.css" integrity="sha256-9FNpuXEYWYfrusiXLO73oIURKAOVzqzkn69cVqgKMRY=" crossorigin="anonymous">
<script src="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.js" integrity="sha256-a+PRq3NbyK3G08Boio9X6+yFiHpTSIrbE7uzZvqmDac=" crossorigin="anonymous"></script>
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.css" integrity="sha256-JvdVmxv7Q0LsN1EJo2zc1rACwzatOzkyx11YI4aP9PY=" crossorigin="anonymous">
<script src="https://cdn.jsdelivr.net/npm/devbridge-autocomplete@1.4.11/dist/jquery.autocomplete.min.js" integrity="sha256-BNpu3uLkB3SwY3a2H3Ue7WU69QFdSRlJVBrDTnVKjiA=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/jquery-validation@1.21.0/dist/jquery.validate.min.js" integrity="sha256-umbTaFxP31Fv6O1itpLS/3+v5fOAWDLOUzlmvOGaKV4=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/js-cookie@3.0.5/dist/js.cookie.min.js" integrity="sha256-WCzAhd2P6gRJF9Hv3oOOd+hFJi/QJbv+Azn4CGB8gfY=" crossorigin="anonymous"></script>
<script src="https://cdnjs.cloudflare.com/ajax/libs/ScrollToFixed/1.0.8/jquery-scrolltofixed-min.js" integrity="sha512-ohXbv1eFvjIHMXG/jY057oHdBZ/jhthP1U3jES/nYyFdc9g6xBpjDjKIacGoPG6hY//xVQeqpWx8tNjexXWdqA==" crossorigin="anonymous"></script>
<script async src="https://www.googletagmanager.com/gtag/js?id=G-HMPSQC23JJ"></script>
<script>
window.dataLayer = window.dataLayer || [];
function gtag(){window.dataLayer.push(arguments);}
gtag("js", new Date());
gtag("config", "G-HMPSQC23JJ");
</script>
<script src="/static/omim/js/site.js?version=Zmk5Y1" integrity="sha256-fi9cXywxCO5p0mU1OSWcMp0DTQB4s8ncFR8j+IO840s="></script>
<link rel="stylesheet" href="/static/omim/css/site.css?version=VGE4MF" integrity="sha256-Ta80Qpm3w1S8kmnN0ornbsZxdfA32R42R4ncsbos0YU=" />
<script src="/static/omim/js/entry/entry.js?version=anMvRU" integrity="sha256-js/EBOBZzGDctUqr1VhnNPzEiA7w3HM5JbFmOj2CW84="></script>
<div id="mimBootstrapDeviceSize">
<div class="visible-xs" data-mim-bootstrap-device-size="xs"></div>
<div class="visible-sm" data-mim-bootstrap-device-size="sm"></div>
<div class="visible-md" data-mim-bootstrap-device-size="md"></div>
<div class="visible-lg" data-mim-bootstrap-device-size="lg"></div>
</div>
<title>
Entry
- #302960 - CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2
- OMIM
</title>
</head>
<body>
<div id="mimBody">
<div id="mimHeader" class="hidden-print">
<nav class="navbar navbar-inverse navbar-fixed-top mim-navbar-background">
<div class="container-fluid">
<!-- Brand and toggle get grouped for better mobile display -->
<div class="navbar-header">
<button type="button" class="navbar-toggle collapsed" data-toggle="collapse" data-target="#mimNavbarCollapse" aria-expanded="false">
<span class="sr-only"> Toggle navigation </span>
<span class="icon-bar"></span>
<span class="icon-bar"></span>
<span class="icon-bar"></span>
</button>
<a class="navbar-brand" href="/"><img alt="OMIM" src="/static/omim/icons/OMIM_davinciman.001.png" height="30" width="30"></a>
</div>
<div id="mimNavbarCollapse" class="collapse navbar-collapse">
<ul class="nav navbar-nav">
<li>
<a href="/help/about"><span class="mim-navbar-menu-font"> About </span></a>
</li>
<li class="dropdown">
<a href="#" id="mimStatisticsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Statistics <span class="caret"></span></span></a>
<ul class="dropdown-menu" role="menu" aria-labelledby="statisticsDropdown">
<li>
<a href="/statistics/update"> Update List </a>
</li>
<li>
<a href="/statistics/entry"> Entry Statistics </a>
</li>
<li>
<a href="/statistics/geneMap"> Phenotype-Gene Statistics </a>
</li>
<li>
<a href="/statistics/paceGraph"> Pace of Gene Discovery Graph </a>
</li>
</ul>
</li>
<li class="dropdown">
<a href="#" id="mimDownloadsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Downloads <span class="caret"></span></span></a>
<ul class="dropdown-menu" role="menu" aria-labelledby="downloadsDropdown">
<li>
<a href="/downloads/"> Register for Downloads </a>
</li>
<li>
<a href="/api"> Register for API Access </a>
</li>
</ul>
</li>
<li>
<a href="/contact?mimNumber=302960"><span class="mim-navbar-menu-font"> Contact Us </span></a>
</li>
<li>
<a href="/mimmatch/">
<span class="mim-navbar-menu-font">
<span class="mim-tip-bottom" qtip_title="<strong>MIMmatch</strong>" qtip_text="MIMmatch is a way to follow OMIM entries that interest you and to find other researchers who may share interest in the same entries. <br /><br />A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.">
MIMmatch
</span>
</span>
</a>
</li>
<li class="dropdown">
<a href="#" id="mimDonateDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Donate <span class="caret"></span></span></a>
<ul class="dropdown-menu" role="menu" aria-labelledby="donateDropdown">
<li>
<a href="https://secure.jhu.edu/form/OMIM" target="_blank" onclick="gtag('event', 'mim_donation', {'destination': 'secure.jhu.edu'})"> Donate! </a>
</li>
<li>
<a href="/donors"> Donors </a>
</li>
</ul>
</li>
<li class="dropdown">
<a href="#" id="mimHelpDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Help <span class="caret"></span></span></a>
<ul class="dropdown-menu" role="menu" aria-labelledby="helpDropdown">
<li>
<a href="/help/faq"> Frequently Asked Questions (FAQs) </a>
</li>
<li role="separator" class="divider"></li>
<li>
<a href="/help/search"> Search Help </a>
</li>
<li>
<a href="/help/linking"> Linking Help </a>
</li>
<li>
<a href="/help/api"> API Help </a>
</li>
<li role="separator" class="divider"></li>
<li>
<a href="/help/external"> External Links </a>
</li>
<li role="separator" class="divider"></li>
<li>
<a href="/help/agreement"> Use Agreement </a>
</li>
<li>
<a href="/help/copyright"> Copyright </a>
</li>
</ul>
</li>
<li>
<a href="#" id="mimShowTips" class="mim-tip-hint" title="Click to reveal all tips on the page. You can also hover over individual elements to reveal the tip."><span class="mim-navbar-menu-font"><span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span></span></a>
</li>
</ul>
</div>
</div>
</nav>
</div>
<div id="mimSearch" class="hidden-print">
<div class="container">
<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
<input type="hidden" id="mimSearchStart" name="start" value="1" />
<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
<div class="row">
<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
<div class="form-group">
<div class="input-group">
<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
<div class="input-group-btn">
<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
<ul class="dropdown-menu dropdown-menu-right">
<li class="dropdown-header">
Advanced Search
</li>
<li style="margin-left: 0.5em;">
<a href="/search/advanced/entry"> OMIM </a>
</li>
<li style="margin-left: 0.5em;">
<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
</li>
<li style="margin-left: 0.5em;">
<a href="/search/advanced/geneMap"> Gene Map </a>
</li>
<li role="separator" class="divider"></li>
<li>
<a href="/history"> Search History </a>
</li>
</ul>
</div>
</div>
<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
</div>
</div>
<div class="col-lg-4 col-md-4 col-sm-4 col-xs-4">
<span class="small">
</span>
</div>
</div>
</form>
<div class="row">
<p />
</div>
</div>
</div>
<!-- <div id="mimSearch"> -->
<div id="mimContent">
<div class="container hidden-print">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<div id="mimAlertBanner">
</div>
</div>
</div>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
<div id="mimFloatingTocMenu" class="small" role="navigation">
<p>
<span class="h4">#302960</span>
<br />
<strong>Table of Contents</strong>
</p>
<nav>
<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
<li role="presentation">
<a href="#title"><strong>Title</strong></a>
</li>
<li role="presentation">
<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
</li>
<li role="presentation">
<a href="/clinicalSynopsis/302960"><strong>Clinical Synopsis</strong></a>
</li>
<li role="presentation">
<a href="#text"><strong>Text</strong></a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#description">Description</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#biochemicalFeatures">Biochemical Features</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#mapping">Mapping</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#nomenclature">Nomenclature</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#animalModel">Animal Model</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#history">History</a>
</li>
<li role="presentation">
<a href="#seeAlso"><strong>See Also</strong></a>
</li>
<li role="presentation">
<a href="#references"><strong>References</strong></a>
</li>
<li role="presentation">
<a href="#contributors"><strong>Contributors</strong></a>
</li>
<li role="presentation">
<a href="#creationDate"><strong>Creation Date</strong></a>
</li>
<li role="presentation">
<a href="#editHistory"><strong>Edit History</strong></a>
</li>
</ul>
</nav>
</div>
</div>
<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
<div id="mimFloatingLinksMenu">
<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
<h4 class="panel-title">
<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
<div style="display: table-row">
<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">&#9660;</div>
&nbsp;
<div style="display: table-cell;">External Links</div>
</div>
</a>
</h4>
</div>
</div>
<div id="mimExternalLinksFold" class="collapse in">
<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
<span class="panel-title">
<span class="small">
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9660;</div>
&nbsp;
<div style="display: table-cell;">Clinical Resources</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
<div class="panel-body small mim-panel-body">
<div><a href="https://clinicaltrials.gov/search?cond=CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10376&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK55062/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
<div><a href="https://www.diseaseinfosearch.org/x/1368" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
<div><a href="https://medlineplus.gov/genetics/condition/x-linked-chondrodysplasia-punctata-2" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=302960[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35173" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/5d6e68a3-2bcc-4b32-a2ee-63fd25849ae7/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0080352" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/302960" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 398719004, 398958000<br />
<strong>ORPHA:</strong> 35173<br />
<strong>DO:</strong> 0080352<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
302960
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
CDPXD; CPXD<br />
CONRADI-HUNERMANN SYNDROME<br />
HAPPLE SYNDROME<br />
CONRADI-HUNERMANN-HAPPLE SYNDROME
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/249?start=-3&limit=10&highlight=249">
Xp11.23
</a>
</span>
</td>
<td>
<span class="mim-font">
Chondrodysplasia punctata, X-linked dominant
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302960"> 302960 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
EBP
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300205"> 300205 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/302960" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/302960" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/302960" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- X-linked dominant <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847879&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847879</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Failure to thrive (early infancy) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844838</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br /> -
Mild to moderate growth deficiency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3151860&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3151860</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Flat face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853241&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853241</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012368</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012368</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9ba328482ffd2d39f0d1071965725b03" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Face,Flat-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9ba328482ffd2d39f0d1071965725b03&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Hypoplasia of malar eminences <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844840&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844840</a>]</span><br /> -
Frontal bossing <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90145001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90145001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221354</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Frontal_Bossing-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Dysplastic ears <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0857379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0857379</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000377" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000377</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000377" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000377</a>]</span><br /> -
Hearing loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/103276001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">103276001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/343087000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">343087000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15188001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15188001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H91.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011053</a>, <a href="https://bioportal.bioontology.org/search?q=C0018772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018772</a>, <a href="https://bioportal.bioontology.org/search?q=C1384666&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1384666</a>, <a href="https://bioportal.bioontology.org/search?q=C3887873&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887873</a>, <a href="https://bioportal.bioontology.org/search?q=C2029884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2029884</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Downslanting palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246800008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246800008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423110&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423110</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span><br /> -
Cataracts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193570009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247053007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247053007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95722004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95722004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086543</a>, <a href="https://bioportal.bioontology.org/search?q=C0521707&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521707</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br /> -
Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> -
Microphthalmos <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204108000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204108000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61142002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61142002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q11.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q11.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026010&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026010</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span><br /> -
Glaucoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23986001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23986001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H40-H42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40-H42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H40.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">365</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/365.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">365.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017601&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017601</a>, <a href="https://bioportal.bioontology.org/search?q=C0997768&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0997768</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000501" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000501</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000501" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000501</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Saddle nose <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/710234009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">710234009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0264169&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264169</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011120" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011120</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011120" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011120</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=188a9c8c46ac6905d0d3e53e29bb8e64" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nasal_Ridge,Concave-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=188a9c8c46ac6905d0d3e53e29bb8e64&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Neck </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short neck <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95427009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95427009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521525&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521525</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Neck,Short-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Airways </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Tracheal calcifications <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/81089005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">81089005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0264324&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264324</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002787" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002787</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002787" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002787</a>]</span><br /> -
Tracheal stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11296007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11296007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040583&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040583</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002777" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002777</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002777" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002777</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CHEST </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Ribs Sternum Clavicles & Scapulae </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Punctate calcific stippling sternum, ribs, coracoid process, and glenoid fossae of scapula <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844837</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hydronephrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43064006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43064006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.30</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">591</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020295</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br /> -
Hemivertebrae <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/68359008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">68359008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.49" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.49</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/756.14" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">756.14</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265677&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265677</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002937" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002937</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002937" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002937</a>]</span><br /> -
Vertebral calcifications <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844842&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844842</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Pelvis </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Calcific deposits of ischium and pubis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844843&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844843</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Asymmetric limb shortening <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34087007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34087007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0333662&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0333662</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100556" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100556</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100556" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100556</a>]</span><br /> -
Epiphyseal stippling <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859126&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859126</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010655" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010655</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010655" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010655</a>]</span><br /> -
Dislocation of patella <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263029007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263029007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1135812&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1135812</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002999" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002999</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002999" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002999</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Punctate calcifications of carpals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844846&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844846</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004241" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004241</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004241" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004241</a>]</span><br /> -
Postaxial polydactyly (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220697</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Bilateral club feet <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844847&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844847</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397932003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397932003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156475005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156475005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.89</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.51</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span><br /> -
Punctate calcifications of tarsals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844848&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844848</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008131" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008131</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008131" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008131</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Congenital ichthyosiform erythroderma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267372009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267372009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/268282005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">268282005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254156001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254156001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0079154&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0079154</a>, <a href="https://bioportal.bioontology.org/search?q=C0079583&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0079583</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007479" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007479</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0007431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007431</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007431</a>]</span><br /> -
Follicular atrophoderma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/238842001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">238842001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0406563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0406563</a>]</span><br /> -
'Orange peel' skin (large pores) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844849&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844849</a>]</span><br /> -
Ichthyosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/782957005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">782957005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13059002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13059002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/757.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">757.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020758</a>, <a href="https://bioportal.bioontology.org/search?q=C0020757&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020757</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008064" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008064</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008064" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008064</a>]</span><br /> -
Skin lesions follow the lines of Blaschko <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2677853&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2677853</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Coarse, sparse hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844850&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844850</a>]</span><br /> -
Patchy areas of alopecia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844851&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844851</a>]</span><br /> -
Sparse eyebrows <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422441003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422441003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0578682&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0578682</a>, <a href="https://bioportal.bioontology.org/search?q=C1832446&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832446</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002223" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002223</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0045075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0045075</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0045075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0045075</a>]</span><br /> -
Sparse eyelashes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843300&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843300</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000653</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000653</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=09052e490ffb13e8a17a589d4a9208f0" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyelashes,Sparse-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=09052e490ffb13e8a17a589d4a9208f0&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> PRENATAL MANIFESTATIONS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Amniotic Fluid </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Polyhydramnios <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86203003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86203003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/O40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O40</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/657.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">657.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/657" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">657</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020224</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001561" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001561</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001561" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001561</a>]</span><br /> -
Hydrops <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/79654002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">79654002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267038008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267038008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20741006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20741006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R60.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R60.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/782.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">782.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013604&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013604</a>, <a href="https://bioportal.bioontology.org/search?q=C1058427&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1058427</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000969" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000969</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000969" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000969</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Elevated 8(9)-cholestenol <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840014&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840014</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003465" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003465</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003465" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003465</a>]</span><br /> -
Elevated 8-dehydrocholesterol <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840013&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840013</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003462" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003462</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003462" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003462</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Onset at birth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836142&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836142</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003577</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003577</a>]</span><br /> -
Variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
Virtually all patients are female<br /> -
Surviving males are postzygotic mosaic for EBP mutations<br /> -
Skin erythroderma may resolve early, leaving atrophic lesions<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the emopamil-binding protein gene (EBP, <a href="/entry/300205#0001">300205.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
</span>
</span>
</h4>
<div id="mimTextFold" class="collapse in ">
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because X-linked dominant chondrodysplasia punctata-2 (CDPX2) is caused by mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein (EBP; <a href="/entry/300205">300205</a>) on chromosome Xp11.</p><p>Hemizygous mutation in the EBP gene can also cause MEND syndrome (<a href="/entry/300960">300960</a>) in males, which shares some features with CDPX2.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="description" class="mim-anchor"></a>
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<div id="mimDescriptionFold" class="collapse in ">
<span class="mim-text-font">
<p>Chondrodysplasia punctata (CDP) is a clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. X-linked dominant CDP, also known as Conradi-Hunermann syndrome, is the most well-characterized form. CDPX2 arises almost exclusively in females and is usually lethal in males. In addition to radiographic stippling, the disorder is characterized by rhizomelic shortness, transient congenital ichthyosis following the lines of Blaschko, patchy alopecia, cataracts, and midface hypoplasia. Affected males are extremely rare and the clinical features in males almost always result from postzygotic mosaicism for an EBP mutation (summary by <a href="#2" class="mim-tip-reference" title="Aughton, D. J., Kelley, R. I., Metzenberg, A., Pureza, V., Pauli, R. M. &lt;strong&gt;X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male.&lt;/strong&gt; Am. J. Med. Genet. 116A: 255-260, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12503102/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12503102&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.10852&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12503102">Aughton et al., 2003</a> and <a href="#1" class="mim-tip-reference" title="Arnold, A. W., Bruckner-Tuderman, L., Has, C., Happle, R. &lt;strong&gt;Conradi-Hunermann-Happle syndrome in males vs MEND syndrome (male EBP disorder with neurological defects).&lt;/strong&gt; Brit. J. Derm. 166: 1309-1313, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22229330/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22229330&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1365-2133.2012.10808.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22229330">Arnold et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22229330+12503102" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Chondrodysplasia Punctata</em></strong></p><p>
See also CDPX1 (<a href="/entry/302950">302950</a>), caused by mutation in the ARSE gene (<a href="/entry/300180">300180</a>).</p><p>See <a href="/entry/118650">118650</a>, <a href="/entry/602497">602497</a>, and <a href="/entry/118651">118651</a> for possible autosomal dominant forms of CDP. In addition, CDP can be caused by maternal vitamin K deficiency or warfarin teratogenicity (see <a href="/entry/118650">118650</a>).</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="clinicalFeatures" class="mim-anchor"></a>
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>Patients with X-linked dominant chondrodysplasia punctata-2 display skin defects including linear or whorled atrophic and pigmentary lesions, striated hyperkeratosis, coarse lusterless hair and alopecia, cataracts, and skeletal abnormalities including short stature, rhizomelic shortening of the limbs, epiphyseal stippling, and craniofacial defects (<a href="#7" class="mim-tip-reference" title="Derry, J. M. J., Gormally, E., Means, G. D., Zhao, W., Meindl, A., Kelley, R. I., Boyd, Y., Herman, G. E. &lt;strong&gt;Mutations in a delta(8)-delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata.&lt;/strong&gt; Nature Genet. 22: 286-290, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10391218/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10391218&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/10350&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10391218">Derry et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391218" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>A higher ratio of females to males (36:7) was noted by <a href="#31" class="mim-tip-reference" title="Spranger, J. W., Opitz, J. M., Bidder, U. &lt;strong&gt;Heterogeneity of chondrodysplasia punctata.&lt;/strong&gt; Humangenetik 11: 190-212, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5544780/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5544780&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00274739&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5544780">Spranger et al. (1971)</a> in one type of this disorder, termed type B, and defined as 'moderately affected patients with...asymmetric skeletal changes, occasional cataracts and skin changes.' Because some patients with chondrodysplasia punctata show widespread atrophic and pigmentary lesions of the skin in a linear or whorled pattern, <a href="#9" class="mim-tip-reference" title="Happle, R., Matthiass, H.-H., Macher, E. &lt;strong&gt;Sex-linked chondrodysplasia punctata?&lt;/strong&gt; Clin. Genet. 11: 73-76, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/830452/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;830452&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1977.tb01281.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="830452">Happle et al. (1977)</a> proposed that these cases may be inherited as an X-linked dominant lethal in hemizygous males. <a href="#12" class="mim-tip-reference" title="Happle, R. &lt;strong&gt;X-linked dominant chondrodysplasia punctata: review of literature and report of a case.&lt;/strong&gt; Hum. Genet. 53: 65-73, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/535904/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;535904&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00289453&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="535904">Happle (1979)</a> reviewed 35 cases, all female. The phenotype had mosaic features consistent with lyonization. <a href="#4" class="mim-tip-reference" title="Bergstrom, K., Gustavson, K.-H., Jorulf, H. &lt;strong&gt;Chondrodystrophia calcificans congenita (Conradi&#x27;s disease) in a mother and her child.&lt;/strong&gt; Clin. Genet. 3: 158-161, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5054808/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5054808&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1972.tb01453.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5054808">Bergstrom et al. (1972)</a> described a mother and son with chondrodysplasia punctata. The mother was born with short femora and humeri, the left leg shorter than the right, saddle nose, frontal bossing, flexion contractures at the hips and knees, left talipes equinovarus and hyperkeratosis with erythema of the left side of the body. The son lived only 1 hour. <a href="#8" class="mim-tip-reference" title="Happle, R., Kuchle, H. J. &lt;strong&gt;Sectorial cataract: a possible example of lyonisation. (Letter)&lt;/strong&gt; Lancet 322: 919-920, 1983. Note: Originally Volume II.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6137740/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6137740&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(83)90915-7&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6137740">Happle and Kuchle (1983)</a> pictured a sectorial cataract in a woman with X-linked dominant chondrodysplasia punctata and proposed that this reflected lyonization. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=535904+6137740+5054808+5544780+830452" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#25" class="mim-tip-reference" title="Manzke, H., Christophers, E., Weidemann, H.-R. &lt;strong&gt;Dominant sex-linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata.&lt;/strong&gt; Clin. Genet. 17: 97-107, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7363504/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7363504&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1980.tb00115.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7363504">Manzke et al. (1980)</a> reported 3 affected girls. Two of their mothers showed a mild form of cicatricial alopecia. The pathognomonic dermatologic findings in the children included erythematous skin changes and striated ichthyosiform hyperkeratosis during the first months of life. Later, patterned ichthyosis, follicular atrophoderma, coarse lusterless hair, and cicatricial alopecia become evident. <a href="#25" class="mim-tip-reference" title="Manzke, H., Christophers, E., Weidemann, H.-R. &lt;strong&gt;Dominant sex-linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata.&lt;/strong&gt; Clin. Genet. 17: 97-107, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7363504/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7363504&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1980.tb00115.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7363504">Manzke et al. (1980)</a> estimated that about one-fourth of reported cases are of the X-linked dominant variety. The X-linked dominant form of chondrodysplasia punctata is lethal in the hemizygous male and, in females, shows a pattern of skin defects consistent with functional X-chromosomal mosaicism; the variability in severity and the marked asymmetry of bone and eye changes may have a similar explanation. Cerebral involvement does not seem to occur. The X-linked recessive form is clinically mild but has cerebral involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7363504" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Kalter, D. C., Atherton, D. J., Clayton, P. T. &lt;strong&gt;X-linked dominant Conradi-Hunermann syndrome presenting as congenital erythroderma.&lt;/strong&gt; J. Am. Acad. Derm. 21: 248-256, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2527874/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2527874&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0190-9622(89)70169-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2527874">Kalter et al. (1989)</a> described a family first identified through the birth of a scaly, erythrodermic female neonate whose mother and maternal great-grandmother had features that allowed the diagnosis to be made. Only after 5 months did the streaky hyperkeratotic pattern characteristic of the disorder appear. Family members bore other stigmata including patchy cicatricial alopecia, coarse hair, follicular atrophoderma, frontal bossing, cataracts, short stature, and short proximal limbs. Decreased peroxisomal enzyme activity was demonstrated on fibroblast cultures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2527874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#32" class="mim-tip-reference" title="Sutphen, R., Amar, M. J., Kousseff, B. G., Toomey, K. E. &lt;strong&gt;XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome).&lt;/strong&gt; Am. J. Med. Genet. 57: 489-492, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7677157/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7677157&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320570326&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7677157">Sutphen et al. (1995)</a> described a family with Happle syndrome in 3 successive generations. Three of the affected individuals were females: the grandmother, daughter, and granddaughter. The fourth affected individual was a male in the second generation who was found to be severely affected but represented the first known male patient with X-linked dominant chondrodysplasia punctata (see 'Affected Males' below). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7677157" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Bruch, D., Megahed, M., Majewski, F., Ruzicka, T. &lt;strong&gt;Ichthyotic and psoriasiform skin lesions along Blaschko&#x27;s lines in a woman with X-linked dominant chondrodysplasia punctata.&lt;/strong&gt; J. Am. Acad. Derm. 33: 356-360, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7615885/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7615885&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0190-9622(95)91433-1&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7615885">Bruch et al. (1995)</a> described the case of a 32-year-old woman with ichthyotic skin lesions that developed during early childhood and persisted into adulthood. Psoriasiform skin changes became evident for the first time during adulthood. Both the ichthyotic and psoriasiform skin lesions followed Blaschko lines. Usually in X-linked dominant chondrodysplasia punctata, punctate epiphyseal calcifications and ichthyotic skin lesions are both transient, resolving during early infancy. The coexistence of the 2 forms of skin change in the adult was unusual. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7615885" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Kozlowski, K., Godlonton, J., Gardner, J., Beighton, P. &lt;strong&gt;Lethal non-rhizomelic dysplasia epiphysealis punctata.&lt;/strong&gt; Clin. Dysmorph. 11: 203-208, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12072802/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12072802&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00019605-200207000-00011&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12072802">Kozlowski et al. (2002)</a> presented 2 cases of nonrhizomelic lethal X-linked dominant chondrodysplasia punctata. The mother of 1 of the patients had bone dysplasia consistent with the X-linked dominant form of chondrodysplasia punctata. She had always been smaller than her peers, and spinal curvature, which had been recognized in early childhood, had progressed. By adulthood, she had a gross kyphoscoliosis and was 152 cm in height, with relative truncal shortening. Vertebral wedging was maximal in the lower thoracic spine. The vertebral bodies above and below this region were found to be comparatively normal. The distal end of the left ulna was dysplastic, as was the right femoral head. The left fourth metacarpal was short. A firm diagnosis would not have been possible on the basis of the radiologic findings in the mother alone. In the case of the infant there had been no maternal exposure to embryopathic agents, and, in particular, no warfarin therapy had been given. The infant died at approximately 1 hour of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12072802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Ausavarat, S., Tanpaiboon, P., Tongkobpetch, S., Suphapeetiporn, K., Shotelersuk, V. &lt;strong&gt;Two novel EBP mutations in Conradi-Hunermann-Happle syndrome.&lt;/strong&gt; Europ. J. Derm. 18: 391-393, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18573709/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18573709&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1684/ejd.2008.0433&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18573709">Ausavarat et al. (2008)</a> reported 2 unrelated Thai girls with CDPX2 confirmed by genetic analysis. The first girl presented in infancy with asymmetric limb shortening, flat face, saddle nose, and cataracts. She had hyperkeratotic brownish plaques on the lower extremities following the lines of Blaschko and generalized brownish scales sparing the scalp, face, palms, soles, and inguinal area. Radiographs showed generalized punctate calcifications of the epiphyseal regions of long bones, vertebrae, and the pelvic bone. The second girl first presented at age 13 years. She had short stature, asymmetric limb shortening, postaxial polydactyly, pronounced kyphoscoliosis, dry and scaly skin, sparse hair with areas of alopecia, and cataracts. There were atrophic linear skin lesions following the lines of Blaschko mostly on the extremities. Her mother, who also carried the mutation, had sparse hair and atrophic linear skin lesions following the lines of Blaschko. She did not manifest cataracts, polydactyly, scoliosis, or asymmetric limb shortening. <a href="#3" class="mim-tip-reference" title="Ausavarat, S., Tanpaiboon, P., Tongkobpetch, S., Suphapeetiporn, K., Shotelersuk, V. &lt;strong&gt;Two novel EBP mutations in Conradi-Hunermann-Happle syndrome.&lt;/strong&gt; Europ. J. Derm. 18: 391-393, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18573709/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18573709&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1684/ejd.2008.0433&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18573709">Ausavarat et al. (2008)</a> noted that incomplete penetrance has been reported and suggested that the variable expressivity may reflect different patterns of X inactivation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18573709" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Affected Males</em></strong></p><p>
<a href="#32" class="mim-tip-reference" title="Sutphen, R., Amar, M. J., Kousseff, B. G., Toomey, K. E. &lt;strong&gt;XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome).&lt;/strong&gt; Am. J. Med. Genet. 57: 489-492, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7677157/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7677157&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320570326&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7677157">Sutphen et al. (1995)</a> reported a man with CDPX2. His survival was attributable to the presence of a 47,XXY karyotype. This affected male died at age 31 years due to restricted pulmonary disease secondary to severe kyphoscoliosis. He attained a height of 147.5 cm after orthopedic surgery. Physical findings showed severe skeletal anomalies, including asymmetric skull with hypoplastic right face, short neck, kyphoscoliosis, shortness of the right upper and lower limbs, short right third digit, and dislocation of the head of the right radius. He also had patchy cicatricial alopecia, right cataract, and right esotropia. Intelligence was borderline; his IQ was 83 at age 5 years and 77 at age 11 years. Although <a href="#32" class="mim-tip-reference" title="Sutphen, R., Amar, M. J., Kousseff, B. G., Toomey, K. E. &lt;strong&gt;XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome).&lt;/strong&gt; Am. J. Med. Genet. 57: 489-492, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7677157/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7677157&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320570326&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7677157">Sutphen et al. (1995)</a> suggested that their male with XXY Klinefelter syndrome was the first known case of Happle syndrome in a man, <a href="#13" class="mim-tip-reference" title="Happle, R. &lt;strong&gt;X-linked dominant chondrodysplasia punctata/ichthyosis/cataract syndrome in males. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 57: 493 only, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7677158/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7677158&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320570327&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7677158">Happle (1995)</a> pointed to reports of 3 unrelated males with this disorder, at least 2 of whom had chromosome studies showing 46,XY karyotype. Contrasting with the XXY male reported by <a href="#32" class="mim-tip-reference" title="Sutphen, R., Amar, M. J., Kousseff, B. G., Toomey, K. E. &lt;strong&gt;XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome).&lt;/strong&gt; Am. J. Med. Genet. 57: 489-492, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7677157/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7677157&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320570326&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7677157">Sutphen et al. (1995)</a>, such cases can best be explained either by postzygotic mutation or by a gametic half-chromatid mutation as proposed for other X-linked dominant traits such as incontinentia pigmenti (<a href="#23" class="mim-tip-reference" title="Lenz, W. &lt;strong&gt;Half chromatid mutations may explain incontinentia pigmenti in males. (Letter)&lt;/strong&gt; Am. J. Hum. Genet. 27: 690-691, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1163541/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1163541&lt;/a&gt;]" pmid="1163541">Lenz, 1975</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7677158+1163541+7677157" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Aughton, D. J., Kelley, R. I., Metzenberg, A., Pureza, V., Pauli, R. M. &lt;strong&gt;X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male.&lt;/strong&gt; Am. J. Med. Genet. 116A: 255-260, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12503102/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12503102&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.10852&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12503102">Aughton et al. (2003)</a> reported a 4-year-old boy with mild macrocephaly, scoliosis, rhizomelic shortening of the limbs, epiphyseal and periepiphyseal stippling, butterfly vertebrae, and asymmetry of the femurs. Additional features included coarse, dry hair with spotty scalp alopecia, mild nasal depression, mild midface flattening, and cutaneous linear streaky hypotrophy. He did not have cataracts, and cognition was normal. Laboratory studies showed increased levels of plasma 8-dehydrocholesterol and 8(9)-cholestenol. Genetic analysis showed mosaicism for a missense mutation in the EBP gene (E80K; <a href="/entry/300205#0003">300205.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12503102" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Arnold, A. W., Bruckner-Tuderman, L., Has, C., Happle, R. &lt;strong&gt;Conradi-Hunermann-Happle syndrome in males vs MEND syndrome (male EBP disorder with neurological defects).&lt;/strong&gt; Brit. J. Derm. 166: 1309-1313, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22229330/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22229330&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1365-2133.2012.10808.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22229330">Arnold et al. (2012)</a> reported a 7-year-old boy with a history of transient scaly erythematous lesions on the trunk, extremities, and scalp at birth, which resolved completely leaving linear, hypopigmented, and slightly scaly areas following the lines of Blaschko. He also had patchy alopecia of the scalp and follicular atrophoderma of the knees. No skeletal or ocular abnormalities were noted, and no neurologic abnormalities were reported. Genetic analysis revealed a de novo hemizygous truncating mutation in the EBP gene (Y11X; <a href="/entry/300205#0014">300205.0014</a>). Karyotype analysis showed 46,XY, and <a href="#1" class="mim-tip-reference" title="Arnold, A. W., Bruckner-Tuderman, L., Has, C., Happle, R. &lt;strong&gt;Conradi-Hunermann-Happle syndrome in males vs MEND syndrome (male EBP disorder with neurological defects).&lt;/strong&gt; Brit. J. Derm. 166: 1309-1313, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22229330/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22229330&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1365-2133.2012.10808.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22229330">Arnold et al. (2012)</a> suggested that postzygotic mosaicism had occurred. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22229330" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="biochemicalFeatures" class="mim-anchor"></a>
<h4 href="#mimBiochemicalFeaturesFold" id="mimBiochemicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimBiochemicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Biochemical Features</strong>
</span>
</h4>
</div>
<div id="mimBiochemicalFeaturesFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#21" class="mim-tip-reference" title="Kelley, R. I., Wilcox, W. G., Smith, M., Kratz, L. E., Moser, A., Rimoin, D. S. &lt;strong&gt;Abnormal sterol metabolism in patients with Conradi-Hunermann-Happle syndrome and sporadic lethal chondrodysplasia punctata.&lt;/strong&gt; Am. J. Med. Genet. 83: 213-219, 1999. Note: Erratum: Am. J. Med. Genet. 84: 387 only, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10096601/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10096601&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19990319)83:3&lt;213::aid-ajmg15&gt;3.0.co;2-c&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10096601">Kelley et al. (1999)</a> studied 5 patients with variably severe chondrodysplasia punctata, including 2 patients with the diagnosis of CDPX2, for abnormalities in cholesterol biosynthesis. They found abnormal plasma or tissue sterol profiles characterized by increased levels of 8-dehydrocholesterol and 8(9)-cholestenol, suggesting a deficiency of 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase, a principal enzyme of cholesterol biosynthesis. The authors concluded that abnormal cholesterol biosynthesis is a characteristic of some syndromes with rhizomelic shortening and chondrodysplasia punctata. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10096601" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Herman, G. E. &lt;strong&gt;Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.&lt;/strong&gt; Hum. Molec. Genet. 12(R1): R75-R88, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12668600/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12668600&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddg072&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12668600">Herman (2003)</a> reviewed the cholesterol biosynthetic pathway and the 6 disorders involving enzyme defects in post-squalene cholesterol biosynthesis: Smith-Lemli-Opitz syndrome (SLOS; <a href="/entry/270400">270400</a>), desmosterolosis (<a href="/entry/602398">602398</a>), CDPX2, CHILD syndrome (<a href="/entry/308050">308050</a>), lathosterolosis (<a href="/entry/607330">607330</a>), and hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM; <a href="/entry/215140">215140</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12668600" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="inheritance" class="mim-anchor"></a>
<h4 href="#mimInheritanceFold" id="mimInheritanceToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimInheritanceToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<div id="mimInheritanceFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>The transmission pattern of CDPX2 in the family reported by <a href="#22" class="mim-tip-reference" title="Kozlowski, K., Godlonton, J., Gardner, J., Beighton, P. &lt;strong&gt;Lethal non-rhizomelic dysplasia epiphysealis punctata.&lt;/strong&gt; Clin. Dysmorph. 11: 203-208, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12072802/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12072802&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00019605-200207000-00011&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12072802">Kozlowski et al. (2002)</a> was consistent with X-linked dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12072802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#30" class="mim-tip-reference" title="Shirahama, S., Miyahara, A., Kitoh, H., Honda, A., Kawase, A., Yamada, K., Mabuchi, A., Kura, H., Yokoyama, Y., Tsutsumi, M., Ikeda, T., Tanaka, N., Nishimura, G., Ohashi, H., Ikegawa, S. &lt;strong&gt;Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata.&lt;/strong&gt; Hum. Genet. 112: 78-83, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12483303/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12483303&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00439-002-0844-x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12483303">Shirahama et al. (2003)</a> noted that anticipation was a striking clinical feature of CDPX2 in the studies of <a href="#32" class="mim-tip-reference" title="Sutphen, R., Amar, M. J., Kousseff, B. G., Toomey, K. E. &lt;strong&gt;XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome).&lt;/strong&gt; Am. J. Med. Genet. 57: 489-492, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7677157/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7677157&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320570326&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7677157">Sutphen et al. (1995)</a> and <a href="#33" class="mim-tip-reference" title="Traupe, H., Muller, D., Atherton, D., Kalter, D. C., Cremers, F. P. M., van Oost, B. A., Ropers, H.-H. &lt;strong&gt;Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation.&lt;/strong&gt; Hum. Genet. 89: 659-665, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1355069/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1355069&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00221958&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1355069">Traupe et al. (1992)</a> and suggested that skewed methylation may have a role in this phenomenon; see <a href="/entry/300205#0012">300205.0012</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7677157+12483303+1355069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="mapping" class="mim-anchor"></a>
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<div id="mimMappingFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>The assignment of the EBP gene to Xp11.23-p11.22 and the demonstration of mutations in this gene in patients with CDPX2 clearly demonstrated that the previous assignment to Xq28 was an error (see HISTORY). <a href="#33" class="mim-tip-reference" title="Traupe, H., Muller, D., Atherton, D., Kalter, D. C., Cremers, F. P. M., van Oost, B. A., Ropers, H.-H. &lt;strong&gt;Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation.&lt;/strong&gt; Hum. Genet. 89: 659-665, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1355069/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1355069&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00221958&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1355069">Traupe et al. (1992)</a> had suggested that Xp11 was excluded as the site of the gene responsible for CDPX2; however, restudy of that family by <a href="#7" class="mim-tip-reference" title="Derry, J. M. J., Gormally, E., Means, G. D., Zhao, W., Meindl, A., Kelley, R. I., Boyd, Y., Herman, G. E. &lt;strong&gt;Mutations in a delta(8)-delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata.&lt;/strong&gt; Nature Genet. 22: 286-290, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10391218/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10391218&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/10350&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10391218">Derry et al. (1999)</a> using molecular methods permitted revision of the scoring of affected individuals in the family such that Xp11 was no longer excluded. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10391218+1355069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="molecularGenetics" class="mim-anchor"></a>
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>In 7 unrelated patients with CDPX2, <a href="#7" class="mim-tip-reference" title="Derry, J. M. J., Gormally, E., Means, G. D., Zhao, W., Meindl, A., Kelley, R. I., Boyd, Y., Herman, G. E. &lt;strong&gt;Mutations in a delta(8)-delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata.&lt;/strong&gt; Nature Genet. 22: 286-290, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10391218/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10391218&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/10350&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10391218">Derry et al. (1999)</a> identified mutations in the EBP gene (e.g., <a href="/entry/300205#0001">300205.0001</a>-<a href="/entry/300205#0002">300205.0002</a>). <a href="#5" class="mim-tip-reference" title="Braverman, N., Lin, P., Moebius, F. F., Obie, C., Moser, A., Glossmann, H., Wilcox, W. R., Rimoin, D. L., Smith, M., Kratz, L., Kelley, R. I., Valle, D. &lt;strong&gt;Mutations in the gene encoding 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome.&lt;/strong&gt; Nature Genet. 22: 291-294, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10391219/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10391219&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/10357&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10391219">Braverman et al. (1999)</a> found mutations in the EBP gene in all 7 cases of chondrodysplasia punctata studied (e.g., <a href="/entry/300205#0003">300205.0003</a>). None of the mutations were identical to those found by <a href="#7" class="mim-tip-reference" title="Derry, J. M. J., Gormally, E., Means, G. D., Zhao, W., Meindl, A., Kelley, R. I., Boyd, Y., Herman, G. E. &lt;strong&gt;Mutations in a delta(8)-delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata.&lt;/strong&gt; Nature Genet. 22: 286-290, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10391218/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10391218&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/10350&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10391218">Derry et al. (1999)</a>. <a href="#5" class="mim-tip-reference" title="Braverman, N., Lin, P., Moebius, F. F., Obie, C., Moser, A., Glossmann, H., Wilcox, W. R., Rimoin, D. L., Smith, M., Kratz, L., Kelley, R. I., Valle, D. &lt;strong&gt;Mutations in the gene encoding 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome.&lt;/strong&gt; Nature Genet. 22: 291-294, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10391219/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10391219&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/10357&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10391219">Braverman et al. (1999)</a> pointed out that the phenotype in CDPX2 females ranges from stillborn to mildly affected individuals identified in adulthood. No correlation between the nature of the mutation and the phenotype was evident. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10391218+10391219" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Ikegawa, S., Ohashi, H., Ogata, T., Honda, A., Tsukahara, M., Kubo, T., Kimizuka, M., Shimode, M., Hasegawa, T., Nishimura, G., Nakamura, Y. &lt;strong&gt;Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.&lt;/strong&gt; Am. J. Med. Genet. 94: 300-305, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11038443/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11038443&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/1096-8628(20001002)94:4&lt;300::aid-ajmg7&gt;3.0.co;2-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11038443">Ikegawa et al. (2000)</a> screened the EBP gene for mutations in 5 individuals with CDPX2 and 3 individuals with chondrodysplasia punctata without extraskeletal (cutaneous and ocular) manifestations of CDPX2. EBP mutations (3 nonsense and 2 missense) were identified in all 5 individuals with CDPX2 but in none of the non-CDPX2 individuals. The authors concluded that EBP mutations that produce truncated proteins result in typical CDPX2, whereas phenotypes resulting from missense mutations are not always typical for CDPX2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11038443" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Herman, G. E., Kelley, R. I., Pureza, V., Smith, D., Kopacz, K., Pitt, J., Sutphen, R., Sheffield, L. J., Metzenberg, A. B. &lt;strong&gt;Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).&lt;/strong&gt; Genet. Med. 4: 434-438, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12509714/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12509714&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00125817-200211000-00006&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12509714">Herman et al. (2002)</a> searched for mutations in 26 females with suspected CDPX2. Mutations in the EBP gene were identified in 22 of the 26 females studied, including 20 of the 22 patients who demonstrated an abnormal sterol profile. Thirteen of the mutations were novel. Affected females had typical skin manifestations and all but 1 had skeletal dysplasia. <a href="#14" class="mim-tip-reference" title="Herman, G. E., Kelley, R. I., Pureza, V., Smith, D., Kopacz, K., Pitt, J., Sutphen, R., Sheffield, L. J., Metzenberg, A. B. &lt;strong&gt;Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).&lt;/strong&gt; Genet. Med. 4: 434-438, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12509714/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12509714&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00125817-200211000-00006&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12509714">Herman et al. (2002)</a> concluded that plasma sterol analysis was a highly specific and sensitive indicator of the presence of an EBP mutation in females with suspected CDPX2, including a clinically unaffected mother of a sporadic case. No clear genotype/phenotype correlations were ascertained, probably because phenotypic expression is influenced substantially by the pattern of X-inactivation in an affected female. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12509714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="nomenclature" class="mim-anchor"></a>
<h4 href="#mimNomenclatureFold" id="mimNomenclatureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimNomenclatureToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
</div>
<div id="mimNomenclatureFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#19" class="mim-tip-reference" title="Kalter, D. C., Atherton, D. J., Clayton, P. T. &lt;strong&gt;X-linked dominant Conradi-Hunermann syndrome presenting as congenital erythroderma.&lt;/strong&gt; J. Am. Acad. Derm. 21: 248-256, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2527874/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2527874&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0190-9622(89)70169-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2527874">Kalter et al. (1989)</a> suggested that the designation Conradi-Hunermann syndrome be reserved for the X-linked dominant form of the disorder. <a href="#29" class="mim-tip-reference" title="Sheffield, L. J. &lt;strong&gt;Comment on Traupe&#x27;s tribute to Rudolf Happle. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 101: 283 only, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11424147/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11424147&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/1096-8628(20010701)101:3&lt;283::aid-ajmg1335&gt;3.0.co;2-f&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11424147">Sheffield (2001)</a> traced the legitimacy of a tripartite eponym for this disorder: Conradi-Hunermann-Happle. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2527874+11424147" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="animalModel" class="mim-anchor"></a>
<h4 href="#mimAnimalModelFold" id="mimAnimalModelToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimAnimalModelToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<div id="mimAnimalModelFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>'Tattered' (Td) is an X-linked, semidominant mouse mutation associated with prenatal male lethality. Heterozygous females are small and at 4 to 5 days of age develop patches of hyperkeratotic skin where no hair grows, resulting in a striping of the coat in adults (<a href="#35" class="mim-tip-reference" title="Uwechue, I. C., Cooper, B. F., Goble, C., Hacker, T., Blair, H. J., Burke, D. T., Herman, G., Boyd, Y. &lt;strong&gt;The mouse X-linked developmental mutant, tattered, lies between DXMit55 and Xkh and is associated with hyperkeratinization.&lt;/strong&gt; Genomics 37: 238-241, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8921395/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8921395&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1996.0549&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8921395">Uwechue et al., 1996</a>). Craniofacial anomalies and twisted toes have also been observed in some affected females. A potential second allele of Td was described by <a href="#28" class="mim-tip-reference" title="Seo, K. W., Miyoshi, H., Kon, Y., Watanabe, T. &lt;strong&gt;Chromosomal mapping and developmental study of Tattered-Hokkaido (Tdho).&lt;/strong&gt; Mammalian Genome 8: 578-580, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9250864/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9250864&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s003359900507&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9250864">Seo et al. (1997)</a>. The phenotype of Td is similar to that seen in heterozygous females with human X-linked dominant chondrodysplasia punctata as well as another X-linked semidominant mouse mutation, 'bare patches' (Bpa). <a href="#7" class="mim-tip-reference" title="Derry, J. M. J., Gormally, E., Means, G. D., Zhao, W., Meindl, A., Kelley, R. I., Boyd, Y., Herman, G. E. &lt;strong&gt;Mutations in a delta(8)-delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata.&lt;/strong&gt; Nature Genet. 22: 286-290, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10391218/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10391218&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/10350&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10391218">Derry et al. (1999)</a> identified the defect in Td mice as a single amino acid substitution in the delta(8)-delta(7) sterol isomerase emopamil-binding protein encoded by the Ebp gene in mouse. <a href="#24" class="mim-tip-reference" title="Liu, X. Y., Dangel, A. W., Kelley, R. I., Zhao, W., Denny, P., Botcherby, M., Cattanach, B., Peters, J., Hunsicker, P. R., Mallon, A.-M., Strivens, M. A., Bate, R., Miller, W., Rhodes, M., Brown, S. D. M., Herman, G. E. &lt;strong&gt;The gene mutated in bare patches and striated mice encodes a novel 3-beta-hydroxysteroid dehydrogenase.&lt;/strong&gt; Nature Genet. 22: 182-187, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10369263/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10369263&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/9700&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10369263">Liu et al. (1999)</a> isolated the Bpa gene (<a href="/entry/300275">300275</a>) on Xq28, and found that it encodes a protein with homology to 3-beta-hydroxysteroid dehydrogenases that function in one of the later steps of cholesterol biosynthesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10391218+10369263+8921395+9250864" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="history" class="mim-anchor"></a>
<h4 href="#mimHistoryFold" id="mimHistoryToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimHistoryToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<div id="mimHistoryFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#10" class="mim-tip-reference" title="Happle, R., Phillips, R. J. S., Roessner, A., Junemann, G. &lt;strong&gt;Homologous genes for X-linked chondrodysplasia punctata in man and mouse.&lt;/strong&gt; Hum. Genet. 63: 24-27, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6682087/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6682087&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00285392&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6682087">Happle et al. (1983)</a> suggested that the syndrome of X-linked dominant chondrodysplasia punctata, ichthyosis, and short stature to which his name is sometimes attached was the human homolog of 'bare patches' in the mouse. This presumed homology led to the assumption that CDPX2 mapped to Xq28 <a href="#15" class="mim-tip-reference" title="Herman, G. E., Walton, S. J. &lt;strong&gt;Close linkage of the murine locus bare patches to the X-linked visual pigment gene: implications for mapping human X-linked dominant chondrodysplasia punctata.&lt;/strong&gt; Genomics 7: 307-312, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1973136/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1973136&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0888-7543(90)90162-n&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1973136">Herman and Walton (1990)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6682087+1973136" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The location of the Bpa gene in the mouse suggested that the human counterpart is in the Xq28 region. To test the hypothesis that the CDPX2 locus maps to Xq28, <a href="#33" class="mim-tip-reference" title="Traupe, H., Muller, D., Atherton, D., Kalter, D. C., Cremers, F. P. M., van Oost, B. A., Ropers, H.-H. &lt;strong&gt;Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation.&lt;/strong&gt; Hum. Genet. 89: 659-665, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1355069/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1355069&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00221958&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1355069">Traupe et al. (1992)</a> performed a linkage study in 3 families comprising a total of 12 informative meioses. Multiple recombinations appeared to exclude the Xq28 region as the site of the gene. Surprisingly, multiple crossovers were also found with 26 other markers distributed over the rest of the X chromosome. Two-point linkage analysis and analysis of recombination chromosomes seemed to exclude the gene from the entire X chromosome. They considered 3 mechanisms that might explain the apparent exclusion of the X-linked gene from the X chromosome by linkage analysis. One was the occurrence of mutations at several different sites on the X chromosome, any one of which could disturb X-inactivation/reactivation. This mechanism has been suggested to explain the phenotype of hypomelanosis of Ito (<a href="/entry/300337">300337</a>) occurring with X/autosome translocations or ring formation of one X chromosome with breakpoints variously located (<a href="#27" class="mim-tip-reference" title="Sefiani, A., Heuertz, S., Turleau, C., Thibaud, D., de Grouchy, J., Hors-Cayla, M.-C. &lt;strong&gt;Incontinentia pigmenti: Xp breakpoint is not the same in a case of r(X) and in X/autosome translocations.&lt;/strong&gt; Ann. Genet. 32: 149-151, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2817774/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2817774&lt;/a&gt;]" pmid="2817774">Sefiani et al., 1989</a>). A second possibility is that of metabolic interference as proposed by <a href="#18" class="mim-tip-reference" title="Johnson, W. G. &lt;strong&gt;Metabolic interference and the +/- heterozygote: a hypothetical form of simple inheritance which is neither dominant nor recessive.&lt;/strong&gt; Am. J. Hum. Genet. 32: 374-386, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6770678/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6770678&lt;/a&gt;]" pmid="6770678">Johnson (1980)</a>. This hypothesis would suggest that only females manifest the disorder and that it would segregate in a manner mimicking X-linked dominant transmission. However, males could receive and transmit the abnormal gene but could not exhibit the abnormal phenotype. Such nonpenetrant males would be scored as recombinants. Metabolic interference would predict that all daughters of a nonpenetrant male gene carrier would be affected; transmission of the gene via an unaffected male has not been observed in the families with Happle syndrome. In the 3 kindreds studied, only females were affected in successive generations. <a href="#33" class="mim-tip-reference" title="Traupe, H., Muller, D., Atherton, D., Kalter, D. C., Cremers, F. P. M., van Oost, B. A., Ropers, H.-H. &lt;strong&gt;Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation.&lt;/strong&gt; Hum. Genet. 89: 659-665, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1355069/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1355069&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00221958&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1355069">Traupe et al. (1992)</a> favored the existence of an unstable premutation that can become silent in males. This explanation would account for the unexpected sex ratio (M:F) of 1.2:1 among surviving sibs. One expects with an X-linked dominant male-lethal gene to find a ratio of 1:2. An unstable premutation would also explain the striking clinical variability of the phenotype, including stepwise increases in disease expression in successive generations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2817774+6770678+1355069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#34" class="mim-tip-reference" title="Traupe, H. &lt;strong&gt;Functional X-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko.&lt;/strong&gt; Am. J. Med. Genet. 85: 324-329, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10398252/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10398252&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19990806)85:4&lt;324::aid-ajmg2&gt;3.0.co;2-o&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10398252">Traupe (1999)</a> recounted difficulties in mapping the gene for X-linked dominant chondrodysplasia punctata or, as he called it, Happle syndrome. Because of presumed homology to the mouse mutant 'bare patches,' on Xq28, they tested for linkage in that region and excluded it. Indeed, multiple crossovers were found, with 26 other markers spread along the rest of the X chromosome. The linkage of the gene seemed to be excluded for the entire X chromosome by 2-point linkage analysis. On reexamination of the pedigree, they realized that in contrast to their expectation of a gene that is lethal for hemizygous males and thus results in a preponderance of females, they actually observed a close-to-even sex ratio (M:F) of 1.2:1 among surviving sibs after performing a Weinberg proband correction. This result suggested that the assumption that males with a mutant gene for Happle syndrome die in utero could be wrong. <a href="#26" class="mim-tip-reference" title="Ryan, S. G., Chance, P. F., Zou, C.-H., Spinner, N. B., Golden, J. A., Smietana, S. &lt;strong&gt;Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing.&lt;/strong&gt; Nature Genet. 17: 92-95, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9288105/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9288105&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0997-92&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9288105">Ryan et al. (1997)</a> reported mapping to Xq22 of a mutant gene that is transmitted by unaffected carrier males in an X-linked dominant disorder in which male sparing, rather than male lethality, is responsible for the selective involvement of females. The disorder studied by <a href="#26" class="mim-tip-reference" title="Ryan, S. G., Chance, P. F., Zou, C.-H., Spinner, N. B., Golden, J. A., Smietana, S. &lt;strong&gt;Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing.&lt;/strong&gt; Nature Genet. 17: 92-95, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9288105/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9288105&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0997-92&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9288105">Ryan et al. (1997)</a> was epilepsy, female restricted, with mental retardation (EFMR; <a href="/entry/300088">300088</a>). Craniofrontonasal dysplasia (CFND; <a href="/entry/304110">304110</a>) is another X-linked dominant disorder in which females are consistently affected more severely than males, although male carriers show some phenotypic abnormalities (<a href="#20" class="mim-tip-reference" title="Kapusta, L., Brunner, H. G., Hamel, B. C. J. &lt;strong&gt;Craniofrontonasal dysplasia.&lt;/strong&gt; Europ. J. Pediat. 151: 837-841, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1468459/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1468459&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01957936&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1468459">Kapusta et al., 1992</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1468459+10398252+9288105" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
</div>
<div>
<a id="seeAlso" class="mim-anchor"></a>
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>See Also:</strong>
</span>
</h4>
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<a href="#Happle1979" class="mim-tip-reference" title="Happle, R. &lt;strong&gt;X-linked dominant chondrodysplasia punctata: review of literature and report of a case.&lt;/strong&gt; Hum. Genet. 53: 65-73, 1979.">Happle (1979)</a>
</span>
<div>
<br />
</div>
</div>
</div>
<div>
<a id="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Arnold2012" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Arnold, A. W., Bruckner-Tuderman, L., Has, C., Happle, R.
<strong>Conradi-Hunermann-Happle syndrome in males vs MEND syndrome (male EBP disorder with neurological defects).</strong>
Brit. J. Derm. 166: 1309-1313, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22229330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22229330</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22229330" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1365-2133.2012.10808.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="2" class="mim-anchor"></a>
<a id="Aughton2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Aughton, D. J., Kelley, R. I., Metzenberg, A., Pureza, V., Pauli, R. M.
<strong>X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male.</strong>
Am. J. Med. Genet. 116A: 255-260, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12503102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12503102</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12503102" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.10852" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="3" class="mim-anchor"></a>
<a id="Ausavarat2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ausavarat, S., Tanpaiboon, P., Tongkobpetch, S., Suphapeetiporn, K., Shotelersuk, V.
<strong>Two novel EBP mutations in Conradi-Hunermann-Happle syndrome.</strong>
Europ. J. Derm. 18: 391-393, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18573709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18573709</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18573709" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1684/ejd.2008.0433" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="4" class="mim-anchor"></a>
<a id="Bergstrom1972" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bergstrom, K., Gustavson, K.-H., Jorulf, H.
<strong>Chondrodystrophia calcificans congenita (Conradi's disease) in a mother and her child.</strong>
Clin. Genet. 3: 158-161, 1972.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5054808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5054808</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5054808" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1972.tb01453.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="5" class="mim-anchor"></a>
<a id="Braverman1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Braverman, N., Lin, P., Moebius, F. F., Obie, C., Moser, A., Glossmann, H., Wilcox, W. R., Rimoin, D. L., Smith, M., Kratz, L., Kelley, R. I., Valle, D.
<strong>Mutations in the gene encoding 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome.</strong>
Nature Genet. 22: 291-294, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391219</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391219" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/10357" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Bruch1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bruch, D., Megahed, M., Majewski, F., Ruzicka, T.
<strong>Ichthyotic and psoriasiform skin lesions along Blaschko's lines in a woman with X-linked dominant chondrodysplasia punctata.</strong>
J. Am. Acad. Derm. 33: 356-360, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7615885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7615885</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7615885" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0190-9622(95)91433-1" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Derry1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Derry, J. M. J., Gormally, E., Means, G. D., Zhao, W., Meindl, A., Kelley, R. I., Boyd, Y., Herman, G. E.
<strong>Mutations in a delta(8)-delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata.</strong>
Nature Genet. 22: 286-290, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391218</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391218" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/10350" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="Happle1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Happle, R., Kuchle, H. J.
<strong>Sectorial cataract: a possible example of lyonisation. (Letter)</strong>
Lancet 322: 919-920, 1983. Note: Originally Volume II.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6137740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6137740</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6137740" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0140-6736(83)90915-7" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Happle1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Happle, R., Matthiass, H.-H., Macher, E.
<strong>Sex-linked chondrodysplasia punctata?</strong>
Clin. Genet. 11: 73-76, 1977.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/830452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">830452</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=830452" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1977.tb01281.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="10" class="mim-anchor"></a>
<a id="Happle1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Happle, R., Phillips, R. J. S., Roessner, A., Junemann, G.
<strong>Homologous genes for X-linked chondrodysplasia punctata in man and mouse.</strong>
Hum. Genet. 63: 24-27, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6682087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6682087</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6682087" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00285392" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="11" class="mim-anchor"></a>
<a id="Happle1979" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Happle, R.
<strong>Skin markers of X-linked dominant chondrodysplasia punctata. (Letter)</strong>
Arch. Derm. 115: 931-932, 1979.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/464620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">464620</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=464620" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="Happle1979" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Happle, R.
<strong>X-linked dominant chondrodysplasia punctata: review of literature and report of a case.</strong>
Hum. Genet. 53: 65-73, 1979.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/535904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">535904</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=535904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00289453" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="13" class="mim-anchor"></a>
<a id="Happle1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Happle, R.
<strong>X-linked dominant chondrodysplasia punctata/ichthyosis/cataract syndrome in males. (Letter)</strong>
Am. J. Med. Genet. 57: 493 only, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7677158/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7677158</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7677158" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320570327" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="14" class="mim-anchor"></a>
<a id="Herman2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Herman, G. E., Kelley, R. I., Pureza, V., Smith, D., Kopacz, K., Pitt, J., Sutphen, R., Sheffield, L. J., Metzenberg, A. B.
<strong>Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).</strong>
Genet. Med. 4: 434-438, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12509714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12509714</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12509714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1097/00125817-200211000-00006" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="15" class="mim-anchor"></a>
<a id="Herman1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Herman, G. E., Walton, S. J.
<strong>Close linkage of the murine locus bare patches to the X-linked visual pigment gene: implications for mapping human X-linked dominant chondrodysplasia punctata.</strong>
Genomics 7: 307-312, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1973136/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1973136</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1973136" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0888-7543(90)90162-n" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="16" class="mim-anchor"></a>
<a id="Herman2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Herman, G. E.
<strong>Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.</strong>
Hum. Molec. Genet. 12(R1): R75-R88, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12668600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12668600</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12668600" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/ddg072" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="17" class="mim-anchor"></a>
<a id="Ikegawa2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ikegawa, S., Ohashi, H., Ogata, T., Honda, A., Tsukahara, M., Kubo, T., Kimizuka, M., Shimode, M., Hasegawa, T., Nishimura, G., Nakamura, Y.
<strong>Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.</strong>
Am. J. Med. Genet. 94: 300-305, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11038443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11038443</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11038443" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/1096-8628(20001002)94:4&lt;300::aid-ajmg7&gt;3.0.co;2-3" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="18" class="mim-anchor"></a>
<a id="Johnson1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Johnson, W. G.
<strong>Metabolic interference and the +/- heterozygote: a hypothetical form of simple inheritance which is neither dominant nor recessive.</strong>
Am. J. Hum. Genet. 32: 374-386, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6770678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6770678</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6770678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="19" class="mim-anchor"></a>
<a id="Kalter1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kalter, D. C., Atherton, D. J., Clayton, P. T.
<strong>X-linked dominant Conradi-Hunermann syndrome presenting as congenital erythroderma.</strong>
J. Am. Acad. Derm. 21: 248-256, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2527874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2527874</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2527874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0190-9622(89)70169-9" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="20" class="mim-anchor"></a>
<a id="Kapusta1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kapusta, L., Brunner, H. G., Hamel, B. C. J.
<strong>Craniofrontonasal dysplasia.</strong>
Europ. J. Pediat. 151: 837-841, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1468459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1468459</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1468459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF01957936" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="21" class="mim-anchor"></a>
<a id="Kelley1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kelley, R. I., Wilcox, W. G., Smith, M., Kratz, L. E., Moser, A., Rimoin, D. S.
<strong>Abnormal sterol metabolism in patients with Conradi-Hunermann-Happle syndrome and sporadic lethal chondrodysplasia punctata.</strong>
Am. J. Med. Genet. 83: 213-219, 1999. Note: Erratum: Am. J. Med. Genet. 84: 387 only, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10096601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10096601</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10096601" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1096-8628(19990319)83:3&lt;213::aid-ajmg15&gt;3.0.co;2-c" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="22" class="mim-anchor"></a>
<a id="Kozlowski2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kozlowski, K., Godlonton, J., Gardner, J., Beighton, P.
<strong>Lethal non-rhizomelic dysplasia epiphysealis punctata.</strong>
Clin. Dysmorph. 11: 203-208, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12072802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12072802</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12072802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1097/00019605-200207000-00011" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="23" class="mim-anchor"></a>
<a id="Lenz1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lenz, W.
<strong>Half chromatid mutations may explain incontinentia pigmenti in males. (Letter)</strong>
Am. J. Hum. Genet. 27: 690-691, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1163541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1163541</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1163541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="24" class="mim-anchor"></a>
<a id="Liu1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Liu, X. Y., Dangel, A. W., Kelley, R. I., Zhao, W., Denny, P., Botcherby, M., Cattanach, B., Peters, J., Hunsicker, P. R., Mallon, A.-M., Strivens, M. A., Bate, R., Miller, W., Rhodes, M., Brown, S. D. M., Herman, G. E.
<strong>The gene mutated in bare patches and striated mice encodes a novel 3-beta-hydroxysteroid dehydrogenase.</strong>
Nature Genet. 22: 182-187, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369263</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369263" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/9700" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="25" class="mim-anchor"></a>
<a id="Manzke1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Manzke, H., Christophers, E., Weidemann, H.-R.
<strong>Dominant sex-linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata.</strong>
Clin. Genet. 17: 97-107, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7363504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7363504</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7363504" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1980.tb00115.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="26" class="mim-anchor"></a>
<a id="Ryan1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ryan, S. G., Chance, P. F., Zou, C.-H., Spinner, N. B., Golden, J. A., Smietana, S.
<strong>Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing.</strong>
Nature Genet. 17: 92-95, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9288105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9288105</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9288105" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng0997-92" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="27" class="mim-anchor"></a>
<a id="Sefiani1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sefiani, A., Heuertz, S., Turleau, C., Thibaud, D., de Grouchy, J., Hors-Cayla, M.-C.
<strong>Incontinentia pigmenti: Xp breakpoint is not the same in a case of r(X) and in X/autosome translocations.</strong>
Ann. Genet. 32: 149-151, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2817774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2817774</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2817774" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="28" class="mim-anchor"></a>
<a id="Seo1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Seo, K. W., Miyoshi, H., Kon, Y., Watanabe, T.
<strong>Chromosomal mapping and developmental study of Tattered-Hokkaido (Tdho).</strong>
Mammalian Genome 8: 578-580, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9250864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9250864</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9250864" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s003359900507" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="29" class="mim-anchor"></a>
<a id="Sheffield2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sheffield, L. J.
<strong>Comment on Traupe's tribute to Rudolf Happle. (Letter)</strong>
Am. J. Med. Genet. 101: 283 only, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11424147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11424147</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11424147" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/1096-8628(20010701)101:3&lt;283::aid-ajmg1335&gt;3.0.co;2-f" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="30" class="mim-anchor"></a>
<a id="Shirahama2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Shirahama, S., Miyahara, A., Kitoh, H., Honda, A., Kawase, A., Yamada, K., Mabuchi, A., Kura, H., Yokoyama, Y., Tsutsumi, M., Ikeda, T., Tanaka, N., Nishimura, G., Ohashi, H., Ikegawa, S.
<strong>Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata.</strong>
Hum. Genet. 112: 78-83, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12483303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12483303</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12483303" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s00439-002-0844-x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="31" class="mim-anchor"></a>
<a id="Spranger1971" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Spranger, J. W., Opitz, J. M., Bidder, U.
<strong>Heterogeneity of chondrodysplasia punctata.</strong>
Humangenetik 11: 190-212, 1971.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5544780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5544780</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5544780" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00274739" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="32" class="mim-anchor"></a>
<a id="Sutphen1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sutphen, R., Amar, M. J., Kousseff, B. G., Toomey, K. E.
<strong>XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome).</strong>
Am. J. Med. Genet. 57: 489-492, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7677157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7677157</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7677157" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320570326" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="33" class="mim-anchor"></a>
<a id="Traupe1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Traupe, H., Muller, D., Atherton, D., Kalter, D. C., Cremers, F. P. M., van Oost, B. A., Ropers, H.-H.
<strong>Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation.</strong>
Hum. Genet. 89: 659-665, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1355069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1355069</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1355069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00221958" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="34" class="mim-anchor"></a>
<a id="Traupe1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Traupe, H.
<strong>Functional X-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko.</strong>
Am. J. Med. Genet. 85: 324-329, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10398252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10398252</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10398252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1096-8628(19990806)85:4&lt;324::aid-ajmg2&gt;3.0.co;2-o" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="35" class="mim-anchor"></a>
<a id="Uwechue1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Uwechue, I. C., Cooper, B. F., Goble, C., Hacker, T., Blair, H. J., Burke, D. T., Herman, G., Boyd, Y.
<strong>The mouse X-linked developmental mutant, tattered, lies between DXMit55 and Xkh and is associated with hyperkeratinization.</strong>
Genomics 37: 238-241, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8921395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8921395</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8921395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1006/geno.1996.0549" target="_blank">Full Text</a>]
</p>
</div>
</li>
</ol>
<div>
<br />
</div>
</div>
</div>
<div>
<a id="contributors" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="mim-text-font">
<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Cassandra L. Kniffin - updated : 9/16/2015
</span>
</div>
</div>
<div class="row collapse" id="mimCollapseContributors">
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Cassandra L. Kniffin - updated : 3/19/2009<br>George E. Tiller - updated : 3/3/2005<br>Victor A. McKusick - updated : 4/13/2004<br>Cassandra L. Kniffin - reorganized : 4/2/2003<br>Ada Hamosh - updated : 3/4/2003<br>Victor A. McKusick - updated : 1/8/2003<br>Sonja A. Rasmussen - updated : 12/11/2000<br>Victor A. McKusick - updated : 9/14/1999<br>Victor A. McKusick - updated : 8/31/1999<br>Victor A. McKusick - updated : 6/24/1999<br>Sonja A. Rasmussen - updated : 5/12/1999
</span>
</div>
</div>
</div>
<div>
<a id="creationDate" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="text-nowrap mim-text-font">
Creation Date:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Victor A. McKusick : 2/9/1987
</span>
</div>
</div>
</div>
<div>
<a id="editHistory" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="text-nowrap mim-text-font">
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
alopez : 10/02/2024
</span>
</div>
</div>
<div class="row collapse" id="mimCollapseEditHistory">
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
carol : 03/02/2022<br>carol : 01/18/2022<br>carol : 05/03/2017<br>carol : 04/18/2016<br>alopez : 4/14/2016<br>carol : 9/21/2015<br>ckniffin : 9/16/2015<br>carol : 3/27/2014<br>terry : 4/4/2013<br>terry : 8/11/2011<br>terry : 8/2/2011<br>terry : 8/2/2011<br>carol : 11/12/2010<br>wwang : 4/9/2009<br>terry : 3/27/2009<br>ckniffin : 3/19/2009<br>carol : 11/28/2005<br>carol : 11/28/2005<br>ckniffin : 11/28/2005<br>ckniffin : 11/17/2005<br>alopez : 3/3/2005<br>tkritzer : 4/19/2004<br>terry : 4/13/2004<br>carol : 4/2/2003<br>carol : 4/2/2003<br>ckniffin : 3/24/2003<br>ckniffin : 3/24/2003<br>cwells : 3/4/2003<br>carol : 1/8/2003<br>cwells : 3/13/2002<br>carol : 8/10/2001<br>cwells : 8/10/2001<br>alopez : 5/25/2001<br>mcapotos : 12/11/2000<br>mcapotos : 12/11/2000<br>alopez : 11/23/1999<br>jlewis : 9/17/1999<br>jlewis : 9/14/1999<br>terry : 8/31/1999<br>alopez : 8/24/1999<br>alopez : 8/24/1999<br>alopez : 6/28/1999<br>terry : 6/24/1999<br>carol : 5/12/1999<br>carol : 3/29/1999<br>mark : 10/13/1995<br>jason : 6/24/1994<br>pfoster : 4/22/1994<br>mimadm : 2/27/1994<br>carol : 10/16/1992<br>carol : 10/13/1992
</span>
</div>
</div>
</div>
</div>
</div>
</div>
<div class="container visible-print-block">
<div class="row">
<div class="col-md-8 col-md-offset-1">
<div>
<div>
<h3>
<span class="mim-font">
<strong>#</strong> 302960
</span>
</h3>
</div>
<div>
<h3>
<span class="mim-font">
CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<div >
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
CDPXD; CPXD<br />
CONRADI-HUNERMANN SYNDROME<br />
HAPPLE SYNDROME<br />
CONRADI-HUNERMANN-HAPPLE SYNDROME
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<p>
<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 398719004, 398958000; &nbsp;
<strong>ORPHA:</strong> 35173; &nbsp;
<strong>DO:</strong> 0080352; &nbsp;
</span>
</p>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
Xp11.23
</span>
</td>
<td>
<span class="mim-font">
Chondrodysplasia punctata, X-linked dominant
</span>
</td>
<td>
<span class="mim-font">
302960
</span>
</td>
<td>
<span class="mim-font">
X-linked dominant
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
EBP
</span>
</td>
<td>
<span class="mim-font">
300205
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>TEXT</strong>
</span>
</h4>
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because X-linked dominant chondrodysplasia punctata-2 (CDPX2) is caused by mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein (EBP; 300205) on chromosome Xp11.</p><p>Hemizygous mutation in the EBP gene can also cause MEND syndrome (300960) in males, which shares some features with CDPX2.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Chondrodysplasia punctata (CDP) is a clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. X-linked dominant CDP, also known as Conradi-Hunermann syndrome, is the most well-characterized form. CDPX2 arises almost exclusively in females and is usually lethal in males. In addition to radiographic stippling, the disorder is characterized by rhizomelic shortness, transient congenital ichthyosis following the lines of Blaschko, patchy alopecia, cataracts, and midface hypoplasia. Affected males are extremely rare and the clinical features in males almost always result from postzygotic mosaicism for an EBP mutation (summary by Aughton et al., 2003 and Arnold et al., 2012). </p><p><strong><em>Genetic Heterogeneity of Chondrodysplasia Punctata</em></strong></p><p>
See also CDPX1 (302950), caused by mutation in the ARSE gene (300180).</p><p>See 118650, 602497, and 118651 for possible autosomal dominant forms of CDP. In addition, CDP can be caused by maternal vitamin K deficiency or warfarin teratogenicity (see 118650).</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Patients with X-linked dominant chondrodysplasia punctata-2 display skin defects including linear or whorled atrophic and pigmentary lesions, striated hyperkeratosis, coarse lusterless hair and alopecia, cataracts, and skeletal abnormalities including short stature, rhizomelic shortening of the limbs, epiphyseal stippling, and craniofacial defects (Derry et al., 1999). </p><p>A higher ratio of females to males (36:7) was noted by Spranger et al. (1971) in one type of this disorder, termed type B, and defined as 'moderately affected patients with...asymmetric skeletal changes, occasional cataracts and skin changes.' Because some patients with chondrodysplasia punctata show widespread atrophic and pigmentary lesions of the skin in a linear or whorled pattern, Happle et al. (1977) proposed that these cases may be inherited as an X-linked dominant lethal in hemizygous males. Happle (1979) reviewed 35 cases, all female. The phenotype had mosaic features consistent with lyonization. Bergstrom et al. (1972) described a mother and son with chondrodysplasia punctata. The mother was born with short femora and humeri, the left leg shorter than the right, saddle nose, frontal bossing, flexion contractures at the hips and knees, left talipes equinovarus and hyperkeratosis with erythema of the left side of the body. The son lived only 1 hour. Happle and Kuchle (1983) pictured a sectorial cataract in a woman with X-linked dominant chondrodysplasia punctata and proposed that this reflected lyonization. </p><p>Manzke et al. (1980) reported 3 affected girls. Two of their mothers showed a mild form of cicatricial alopecia. The pathognomonic dermatologic findings in the children included erythematous skin changes and striated ichthyosiform hyperkeratosis during the first months of life. Later, patterned ichthyosis, follicular atrophoderma, coarse lusterless hair, and cicatricial alopecia become evident. Manzke et al. (1980) estimated that about one-fourth of reported cases are of the X-linked dominant variety. The X-linked dominant form of chondrodysplasia punctata is lethal in the hemizygous male and, in females, shows a pattern of skin defects consistent with functional X-chromosomal mosaicism; the variability in severity and the marked asymmetry of bone and eye changes may have a similar explanation. Cerebral involvement does not seem to occur. The X-linked recessive form is clinically mild but has cerebral involvement. </p><p>Kalter et al. (1989) described a family first identified through the birth of a scaly, erythrodermic female neonate whose mother and maternal great-grandmother had features that allowed the diagnosis to be made. Only after 5 months did the streaky hyperkeratotic pattern characteristic of the disorder appear. Family members bore other stigmata including patchy cicatricial alopecia, coarse hair, follicular atrophoderma, frontal bossing, cataracts, short stature, and short proximal limbs. Decreased peroxisomal enzyme activity was demonstrated on fibroblast cultures. </p><p>Sutphen et al. (1995) described a family with Happle syndrome in 3 successive generations. Three of the affected individuals were females: the grandmother, daughter, and granddaughter. The fourth affected individual was a male in the second generation who was found to be severely affected but represented the first known male patient with X-linked dominant chondrodysplasia punctata (see 'Affected Males' below). </p><p>Bruch et al. (1995) described the case of a 32-year-old woman with ichthyotic skin lesions that developed during early childhood and persisted into adulthood. Psoriasiform skin changes became evident for the first time during adulthood. Both the ichthyotic and psoriasiform skin lesions followed Blaschko lines. Usually in X-linked dominant chondrodysplasia punctata, punctate epiphyseal calcifications and ichthyotic skin lesions are both transient, resolving during early infancy. The coexistence of the 2 forms of skin change in the adult was unusual. </p><p>Kozlowski et al. (2002) presented 2 cases of nonrhizomelic lethal X-linked dominant chondrodysplasia punctata. The mother of 1 of the patients had bone dysplasia consistent with the X-linked dominant form of chondrodysplasia punctata. She had always been smaller than her peers, and spinal curvature, which had been recognized in early childhood, had progressed. By adulthood, she had a gross kyphoscoliosis and was 152 cm in height, with relative truncal shortening. Vertebral wedging was maximal in the lower thoracic spine. The vertebral bodies above and below this region were found to be comparatively normal. The distal end of the left ulna was dysplastic, as was the right femoral head. The left fourth metacarpal was short. A firm diagnosis would not have been possible on the basis of the radiologic findings in the mother alone. In the case of the infant there had been no maternal exposure to embryopathic agents, and, in particular, no warfarin therapy had been given. The infant died at approximately 1 hour of age. </p><p>Ausavarat et al. (2008) reported 2 unrelated Thai girls with CDPX2 confirmed by genetic analysis. The first girl presented in infancy with asymmetric limb shortening, flat face, saddle nose, and cataracts. She had hyperkeratotic brownish plaques on the lower extremities following the lines of Blaschko and generalized brownish scales sparing the scalp, face, palms, soles, and inguinal area. Radiographs showed generalized punctate calcifications of the epiphyseal regions of long bones, vertebrae, and the pelvic bone. The second girl first presented at age 13 years. She had short stature, asymmetric limb shortening, postaxial polydactyly, pronounced kyphoscoliosis, dry and scaly skin, sparse hair with areas of alopecia, and cataracts. There were atrophic linear skin lesions following the lines of Blaschko mostly on the extremities. Her mother, who also carried the mutation, had sparse hair and atrophic linear skin lesions following the lines of Blaschko. She did not manifest cataracts, polydactyly, scoliosis, or asymmetric limb shortening. Ausavarat et al. (2008) noted that incomplete penetrance has been reported and suggested that the variable expressivity may reflect different patterns of X inactivation. </p><p><strong><em>Affected Males</em></strong></p><p>
Sutphen et al. (1995) reported a man with CDPX2. His survival was attributable to the presence of a 47,XXY karyotype. This affected male died at age 31 years due to restricted pulmonary disease secondary to severe kyphoscoliosis. He attained a height of 147.5 cm after orthopedic surgery. Physical findings showed severe skeletal anomalies, including asymmetric skull with hypoplastic right face, short neck, kyphoscoliosis, shortness of the right upper and lower limbs, short right third digit, and dislocation of the head of the right radius. He also had patchy cicatricial alopecia, right cataract, and right esotropia. Intelligence was borderline; his IQ was 83 at age 5 years and 77 at age 11 years. Although Sutphen et al. (1995) suggested that their male with XXY Klinefelter syndrome was the first known case of Happle syndrome in a man, Happle (1995) pointed to reports of 3 unrelated males with this disorder, at least 2 of whom had chromosome studies showing 46,XY karyotype. Contrasting with the XXY male reported by Sutphen et al. (1995), such cases can best be explained either by postzygotic mutation or by a gametic half-chromatid mutation as proposed for other X-linked dominant traits such as incontinentia pigmenti (Lenz, 1975). </p><p>Aughton et al. (2003) reported a 4-year-old boy with mild macrocephaly, scoliosis, rhizomelic shortening of the limbs, epiphyseal and periepiphyseal stippling, butterfly vertebrae, and asymmetry of the femurs. Additional features included coarse, dry hair with spotty scalp alopecia, mild nasal depression, mild midface flattening, and cutaneous linear streaky hypotrophy. He did not have cataracts, and cognition was normal. Laboratory studies showed increased levels of plasma 8-dehydrocholesterol and 8(9)-cholestenol. Genetic analysis showed mosaicism for a missense mutation in the EBP gene (E80K; 300205.0003). </p><p>Arnold et al. (2012) reported a 7-year-old boy with a history of transient scaly erythematous lesions on the trunk, extremities, and scalp at birth, which resolved completely leaving linear, hypopigmented, and slightly scaly areas following the lines of Blaschko. He also had patchy alopecia of the scalp and follicular atrophoderma of the knees. No skeletal or ocular abnormalities were noted, and no neurologic abnormalities were reported. Genetic analysis revealed a de novo hemizygous truncating mutation in the EBP gene (Y11X; 300205.0014). Karyotype analysis showed 46,XY, and Arnold et al. (2012) suggested that postzygotic mosaicism had occurred. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Biochemical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Kelley et al. (1999) studied 5 patients with variably severe chondrodysplasia punctata, including 2 patients with the diagnosis of CDPX2, for abnormalities in cholesterol biosynthesis. They found abnormal plasma or tissue sterol profiles characterized by increased levels of 8-dehydrocholesterol and 8(9)-cholestenol, suggesting a deficiency of 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase, a principal enzyme of cholesterol biosynthesis. The authors concluded that abnormal cholesterol biosynthesis is a characteristic of some syndromes with rhizomelic shortening and chondrodysplasia punctata. </p><p>Herman (2003) reviewed the cholesterol biosynthetic pathway and the 6 disorders involving enzyme defects in post-squalene cholesterol biosynthesis: Smith-Lemli-Opitz syndrome (SLOS; 270400), desmosterolosis (602398), CDPX2, CHILD syndrome (308050), lathosterolosis (607330), and hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM; 215140). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The transmission pattern of CDPX2 in the family reported by Kozlowski et al. (2002) was consistent with X-linked dominant inheritance. </p><p>Shirahama et al. (2003) noted that anticipation was a striking clinical feature of CDPX2 in the studies of Sutphen et al. (1995) and Traupe et al. (1992) and suggested that skewed methylation may have a role in this phenomenon; see 300205.0012. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The assignment of the EBP gene to Xp11.23-p11.22 and the demonstration of mutations in this gene in patients with CDPX2 clearly demonstrated that the previous assignment to Xq28 was an error (see HISTORY). Traupe et al. (1992) had suggested that Xp11 was excluded as the site of the gene responsible for CDPX2; however, restudy of that family by Derry et al. (1999) using molecular methods permitted revision of the scoring of affected individuals in the family such that Xp11 was no longer excluded. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In 7 unrelated patients with CDPX2, Derry et al. (1999) identified mutations in the EBP gene (e.g., 300205.0001-300205.0002). Braverman et al. (1999) found mutations in the EBP gene in all 7 cases of chondrodysplasia punctata studied (e.g., 300205.0003). None of the mutations were identical to those found by Derry et al. (1999). Braverman et al. (1999) pointed out that the phenotype in CDPX2 females ranges from stillborn to mildly affected individuals identified in adulthood. No correlation between the nature of the mutation and the phenotype was evident. </p><p>Ikegawa et al. (2000) screened the EBP gene for mutations in 5 individuals with CDPX2 and 3 individuals with chondrodysplasia punctata without extraskeletal (cutaneous and ocular) manifestations of CDPX2. EBP mutations (3 nonsense and 2 missense) were identified in all 5 individuals with CDPX2 but in none of the non-CDPX2 individuals. The authors concluded that EBP mutations that produce truncated proteins result in typical CDPX2, whereas phenotypes resulting from missense mutations are not always typical for CDPX2. </p><p>Herman et al. (2002) searched for mutations in 26 females with suspected CDPX2. Mutations in the EBP gene were identified in 22 of the 26 females studied, including 20 of the 22 patients who demonstrated an abnormal sterol profile. Thirteen of the mutations were novel. Affected females had typical skin manifestations and all but 1 had skeletal dysplasia. Herman et al. (2002) concluded that plasma sterol analysis was a highly specific and sensitive indicator of the presence of an EBP mutation in females with suspected CDPX2, including a clinically unaffected mother of a sporadic case. No clear genotype/phenotype correlations were ascertained, probably because phenotypic expression is influenced substantially by the pattern of X-inactivation in an affected female. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Kalter et al. (1989) suggested that the designation Conradi-Hunermann syndrome be reserved for the X-linked dominant form of the disorder. Sheffield (2001) traced the legitimacy of a tripartite eponym for this disorder: Conradi-Hunermann-Happle. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>'Tattered' (Td) is an X-linked, semidominant mouse mutation associated with prenatal male lethality. Heterozygous females are small and at 4 to 5 days of age develop patches of hyperkeratotic skin where no hair grows, resulting in a striping of the coat in adults (Uwechue et al., 1996). Craniofacial anomalies and twisted toes have also been observed in some affected females. A potential second allele of Td was described by Seo et al. (1997). The phenotype of Td is similar to that seen in heterozygous females with human X-linked dominant chondrodysplasia punctata as well as another X-linked semidominant mouse mutation, 'bare patches' (Bpa). Derry et al. (1999) identified the defect in Td mice as a single amino acid substitution in the delta(8)-delta(7) sterol isomerase emopamil-binding protein encoded by the Ebp gene in mouse. Liu et al. (1999) isolated the Bpa gene (300275) on Xq28, and found that it encodes a protein with homology to 3-beta-hydroxysteroid dehydrogenases that function in one of the later steps of cholesterol biosynthesis. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Happle et al. (1983) suggested that the syndrome of X-linked dominant chondrodysplasia punctata, ichthyosis, and short stature to which his name is sometimes attached was the human homolog of 'bare patches' in the mouse. This presumed homology led to the assumption that CDPX2 mapped to Xq28 Herman and Walton (1990). </p><p>The location of the Bpa gene in the mouse suggested that the human counterpart is in the Xq28 region. To test the hypothesis that the CDPX2 locus maps to Xq28, Traupe et al. (1992) performed a linkage study in 3 families comprising a total of 12 informative meioses. Multiple recombinations appeared to exclude the Xq28 region as the site of the gene. Surprisingly, multiple crossovers were also found with 26 other markers distributed over the rest of the X chromosome. Two-point linkage analysis and analysis of recombination chromosomes seemed to exclude the gene from the entire X chromosome. They considered 3 mechanisms that might explain the apparent exclusion of the X-linked gene from the X chromosome by linkage analysis. One was the occurrence of mutations at several different sites on the X chromosome, any one of which could disturb X-inactivation/reactivation. This mechanism has been suggested to explain the phenotype of hypomelanosis of Ito (300337) occurring with X/autosome translocations or ring formation of one X chromosome with breakpoints variously located (Sefiani et al., 1989). A second possibility is that of metabolic interference as proposed by Johnson (1980). This hypothesis would suggest that only females manifest the disorder and that it would segregate in a manner mimicking X-linked dominant transmission. However, males could receive and transmit the abnormal gene but could not exhibit the abnormal phenotype. Such nonpenetrant males would be scored as recombinants. Metabolic interference would predict that all daughters of a nonpenetrant male gene carrier would be affected; transmission of the gene via an unaffected male has not been observed in the families with Happle syndrome. In the 3 kindreds studied, only females were affected in successive generations. Traupe et al. (1992) favored the existence of an unstable premutation that can become silent in males. This explanation would account for the unexpected sex ratio (M:F) of 1.2:1 among surviving sibs. One expects with an X-linked dominant male-lethal gene to find a ratio of 1:2. An unstable premutation would also explain the striking clinical variability of the phenotype, including stepwise increases in disease expression in successive generations. </p><p>Traupe (1999) recounted difficulties in mapping the gene for X-linked dominant chondrodysplasia punctata or, as he called it, Happle syndrome. Because of presumed homology to the mouse mutant 'bare patches,' on Xq28, they tested for linkage in that region and excluded it. Indeed, multiple crossovers were found, with 26 other markers spread along the rest of the X chromosome. The linkage of the gene seemed to be excluded for the entire X chromosome by 2-point linkage analysis. On reexamination of the pedigree, they realized that in contrast to their expectation of a gene that is lethal for hemizygous males and thus results in a preponderance of females, they actually observed a close-to-even sex ratio (M:F) of 1.2:1 among surviving sibs after performing a Weinberg proband correction. This result suggested that the assumption that males with a mutant gene for Happle syndrome die in utero could be wrong. Ryan et al. (1997) reported mapping to Xq22 of a mutant gene that is transmitted by unaffected carrier males in an X-linked dominant disorder in which male sparing, rather than male lethality, is responsible for the selective involvement of females. The disorder studied by Ryan et al. (1997) was epilepsy, female restricted, with mental retardation (EFMR; 300088). Craniofrontonasal dysplasia (CFND; 304110) is another X-linked dominant disorder in which females are consistently affected more severely than males, although male carriers show some phenotypic abnormalities (Kapusta et al., 1992). </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Happle (1979)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Arnold, A. W., Bruckner-Tuderman, L., Has, C., Happle, R.
<strong>Conradi-Hunermann-Happle syndrome in males vs MEND syndrome (male EBP disorder with neurological defects).</strong>
Brit. J. Derm. 166: 1309-1313, 2012.
[PubMed: 22229330]
[Full Text: https://doi.org/10.1111/j.1365-2133.2012.10808.x]
</p>
</li>
<li>
<p class="mim-text-font">
Aughton, D. J., Kelley, R. I., Metzenberg, A., Pureza, V., Pauli, R. M.
<strong>X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male.</strong>
Am. J. Med. Genet. 116A: 255-260, 2003.
[PubMed: 12503102]
[Full Text: https://doi.org/10.1002/ajmg.a.10852]
</p>
</li>
<li>
<p class="mim-text-font">
Ausavarat, S., Tanpaiboon, P., Tongkobpetch, S., Suphapeetiporn, K., Shotelersuk, V.
<strong>Two novel EBP mutations in Conradi-Hunermann-Happle syndrome.</strong>
Europ. J. Derm. 18: 391-393, 2008.
[PubMed: 18573709]
[Full Text: https://doi.org/10.1684/ejd.2008.0433]
</p>
</li>
<li>
<p class="mim-text-font">
Bergstrom, K., Gustavson, K.-H., Jorulf, H.
<strong>Chondrodystrophia calcificans congenita (Conradi&#x27;s disease) in a mother and her child.</strong>
Clin. Genet. 3: 158-161, 1972.
[PubMed: 5054808]
[Full Text: https://doi.org/10.1111/j.1399-0004.1972.tb01453.x]
</p>
</li>
<li>
<p class="mim-text-font">
Braverman, N., Lin, P., Moebius, F. F., Obie, C., Moser, A., Glossmann, H., Wilcox, W. R., Rimoin, D. L., Smith, M., Kratz, L., Kelley, R. I., Valle, D.
<strong>Mutations in the gene encoding 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome.</strong>
Nature Genet. 22: 291-294, 1999.
[PubMed: 10391219]
[Full Text: https://doi.org/10.1038/10357]
</p>
</li>
<li>
<p class="mim-text-font">
Bruch, D., Megahed, M., Majewski, F., Ruzicka, T.
<strong>Ichthyotic and psoriasiform skin lesions along Blaschko&#x27;s lines in a woman with X-linked dominant chondrodysplasia punctata.</strong>
J. Am. Acad. Derm. 33: 356-360, 1995.
[PubMed: 7615885]
[Full Text: https://doi.org/10.1016/0190-9622(95)91433-1]
</p>
</li>
<li>
<p class="mim-text-font">
Derry, J. M. J., Gormally, E., Means, G. D., Zhao, W., Meindl, A., Kelley, R. I., Boyd, Y., Herman, G. E.
<strong>Mutations in a delta(8)-delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata.</strong>
Nature Genet. 22: 286-290, 1999.
[PubMed: 10391218]
[Full Text: https://doi.org/10.1038/10350]
</p>
</li>
<li>
<p class="mim-text-font">
Happle, R., Kuchle, H. J.
<strong>Sectorial cataract: a possible example of lyonisation. (Letter)</strong>
Lancet 322: 919-920, 1983. Note: Originally Volume II.
[PubMed: 6137740]
[Full Text: https://doi.org/10.1016/s0140-6736(83)90915-7]
</p>
</li>
<li>
<p class="mim-text-font">
Happle, R., Matthiass, H.-H., Macher, E.
<strong>Sex-linked chondrodysplasia punctata?</strong>
Clin. Genet. 11: 73-76, 1977.
[PubMed: 830452]
[Full Text: https://doi.org/10.1111/j.1399-0004.1977.tb01281.x]
</p>
</li>
<li>
<p class="mim-text-font">
Happle, R., Phillips, R. J. S., Roessner, A., Junemann, G.
<strong>Homologous genes for X-linked chondrodysplasia punctata in man and mouse.</strong>
Hum. Genet. 63: 24-27, 1983.
[PubMed: 6682087]
[Full Text: https://doi.org/10.1007/BF00285392]
</p>
</li>
<li>
<p class="mim-text-font">
Happle, R.
<strong>Skin markers of X-linked dominant chondrodysplasia punctata. (Letter)</strong>
Arch. Derm. 115: 931-932, 1979.
[PubMed: 464620]
</p>
</li>
<li>
<p class="mim-text-font">
Happle, R.
<strong>X-linked dominant chondrodysplasia punctata: review of literature and report of a case.</strong>
Hum. Genet. 53: 65-73, 1979.
[PubMed: 535904]
[Full Text: https://doi.org/10.1007/BF00289453]
</p>
</li>
<li>
<p class="mim-text-font">
Happle, R.
<strong>X-linked dominant chondrodysplasia punctata/ichthyosis/cataract syndrome in males. (Letter)</strong>
Am. J. Med. Genet. 57: 493 only, 1995.
[PubMed: 7677158]
[Full Text: https://doi.org/10.1002/ajmg.1320570327]
</p>
</li>
<li>
<p class="mim-text-font">
Herman, G. E., Kelley, R. I., Pureza, V., Smith, D., Kopacz, K., Pitt, J., Sutphen, R., Sheffield, L. J., Metzenberg, A. B.
<strong>Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).</strong>
Genet. Med. 4: 434-438, 2002.
[PubMed: 12509714]
[Full Text: https://doi.org/10.1097/00125817-200211000-00006]
</p>
</li>
<li>
<p class="mim-text-font">
Herman, G. E., Walton, S. J.
<strong>Close linkage of the murine locus bare patches to the X-linked visual pigment gene: implications for mapping human X-linked dominant chondrodysplasia punctata.</strong>
Genomics 7: 307-312, 1990.
[PubMed: 1973136]
[Full Text: https://doi.org/10.1016/0888-7543(90)90162-n]
</p>
</li>
<li>
<p class="mim-text-font">
Herman, G. E.
<strong>Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.</strong>
Hum. Molec. Genet. 12(R1): R75-R88, 2003.
[PubMed: 12668600]
[Full Text: https://doi.org/10.1093/hmg/ddg072]
</p>
</li>
<li>
<p class="mim-text-font">
Ikegawa, S., Ohashi, H., Ogata, T., Honda, A., Tsukahara, M., Kubo, T., Kimizuka, M., Shimode, M., Hasegawa, T., Nishimura, G., Nakamura, Y.
<strong>Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.</strong>
Am. J. Med. Genet. 94: 300-305, 2000.
[PubMed: 11038443]
[Full Text: https://doi.org/10.1002/1096-8628(20001002)94:4&lt;300::aid-ajmg7&gt;3.0.co;2-3]
</p>
</li>
<li>
<p class="mim-text-font">
Johnson, W. G.
<strong>Metabolic interference and the +/- heterozygote: a hypothetical form of simple inheritance which is neither dominant nor recessive.</strong>
Am. J. Hum. Genet. 32: 374-386, 1980.
[PubMed: 6770678]
</p>
</li>
<li>
<p class="mim-text-font">
Kalter, D. C., Atherton, D. J., Clayton, P. T.
<strong>X-linked dominant Conradi-Hunermann syndrome presenting as congenital erythroderma.</strong>
J. Am. Acad. Derm. 21: 248-256, 1989.
[PubMed: 2527874]
[Full Text: https://doi.org/10.1016/s0190-9622(89)70169-9]
</p>
</li>
<li>
<p class="mim-text-font">
Kapusta, L., Brunner, H. G., Hamel, B. C. J.
<strong>Craniofrontonasal dysplasia.</strong>
Europ. J. Pediat. 151: 837-841, 1992.
[PubMed: 1468459]
[Full Text: https://doi.org/10.1007/BF01957936]
</p>
</li>
<li>
<p class="mim-text-font">
Kelley, R. I., Wilcox, W. G., Smith, M., Kratz, L. E., Moser, A., Rimoin, D. S.
<strong>Abnormal sterol metabolism in patients with Conradi-Hunermann-Happle syndrome and sporadic lethal chondrodysplasia punctata.</strong>
Am. J. Med. Genet. 83: 213-219, 1999. Note: Erratum: Am. J. Med. Genet. 84: 387 only, 1999.
[PubMed: 10096601]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19990319)83:3&lt;213::aid-ajmg15&gt;3.0.co;2-c]
</p>
</li>
<li>
<p class="mim-text-font">
Kozlowski, K., Godlonton, J., Gardner, J., Beighton, P.
<strong>Lethal non-rhizomelic dysplasia epiphysealis punctata.</strong>
Clin. Dysmorph. 11: 203-208, 2002.
[PubMed: 12072802]
[Full Text: https://doi.org/10.1097/00019605-200207000-00011]
</p>
</li>
<li>
<p class="mim-text-font">
Lenz, W.
<strong>Half chromatid mutations may explain incontinentia pigmenti in males. (Letter)</strong>
Am. J. Hum. Genet. 27: 690-691, 1975.
[PubMed: 1163541]
</p>
</li>
<li>
<p class="mim-text-font">
Liu, X. Y., Dangel, A. W., Kelley, R. I., Zhao, W., Denny, P., Botcherby, M., Cattanach, B., Peters, J., Hunsicker, P. R., Mallon, A.-M., Strivens, M. A., Bate, R., Miller, W., Rhodes, M., Brown, S. D. M., Herman, G. E.
<strong>The gene mutated in bare patches and striated mice encodes a novel 3-beta-hydroxysteroid dehydrogenase.</strong>
Nature Genet. 22: 182-187, 1999.
[PubMed: 10369263]
[Full Text: https://doi.org/10.1038/9700]
</p>
</li>
<li>
<p class="mim-text-font">
Manzke, H., Christophers, E., Weidemann, H.-R.
<strong>Dominant sex-linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata.</strong>
Clin. Genet. 17: 97-107, 1980.
[PubMed: 7363504]
[Full Text: https://doi.org/10.1111/j.1399-0004.1980.tb00115.x]
</p>
</li>
<li>
<p class="mim-text-font">
Ryan, S. G., Chance, P. F., Zou, C.-H., Spinner, N. B., Golden, J. A., Smietana, S.
<strong>Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing.</strong>
Nature Genet. 17: 92-95, 1997.
[PubMed: 9288105]
[Full Text: https://doi.org/10.1038/ng0997-92]
</p>
</li>
<li>
<p class="mim-text-font">
Sefiani, A., Heuertz, S., Turleau, C., Thibaud, D., de Grouchy, J., Hors-Cayla, M.-C.
<strong>Incontinentia pigmenti: Xp breakpoint is not the same in a case of r(X) and in X/autosome translocations.</strong>
Ann. Genet. 32: 149-151, 1989.
[PubMed: 2817774]
</p>
</li>
<li>
<p class="mim-text-font">
Seo, K. W., Miyoshi, H., Kon, Y., Watanabe, T.
<strong>Chromosomal mapping and developmental study of Tattered-Hokkaido (Tdho).</strong>
Mammalian Genome 8: 578-580, 1997.
[PubMed: 9250864]
[Full Text: https://doi.org/10.1007/s003359900507]
</p>
</li>
<li>
<p class="mim-text-font">
Sheffield, L. J.
<strong>Comment on Traupe&#x27;s tribute to Rudolf Happle. (Letter)</strong>
Am. J. Med. Genet. 101: 283 only, 2001.
[PubMed: 11424147]
[Full Text: https://doi.org/10.1002/1096-8628(20010701)101:3&lt;283::aid-ajmg1335&gt;3.0.co;2-f]
</p>
</li>
<li>
<p class="mim-text-font">
Shirahama, S., Miyahara, A., Kitoh, H., Honda, A., Kawase, A., Yamada, K., Mabuchi, A., Kura, H., Yokoyama, Y., Tsutsumi, M., Ikeda, T., Tanaka, N., Nishimura, G., Ohashi, H., Ikegawa, S.
<strong>Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata.</strong>
Hum. Genet. 112: 78-83, 2003.
[PubMed: 12483303]
[Full Text: https://doi.org/10.1007/s00439-002-0844-x]
</p>
</li>
<li>
<p class="mim-text-font">
Spranger, J. W., Opitz, J. M., Bidder, U.
<strong>Heterogeneity of chondrodysplasia punctata.</strong>
Humangenetik 11: 190-212, 1971.
[PubMed: 5544780]
[Full Text: https://doi.org/10.1007/BF00274739]
</p>
</li>
<li>
<p class="mim-text-font">
Sutphen, R., Amar, M. J., Kousseff, B. G., Toomey, K. E.
<strong>XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome).</strong>
Am. J. Med. Genet. 57: 489-492, 1995.
[PubMed: 7677157]
[Full Text: https://doi.org/10.1002/ajmg.1320570326]
</p>
</li>
<li>
<p class="mim-text-font">
Traupe, H., Muller, D., Atherton, D., Kalter, D. C., Cremers, F. P. M., van Oost, B. A., Ropers, H.-H.
<strong>Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation.</strong>
Hum. Genet. 89: 659-665, 1992.
[PubMed: 1355069]
[Full Text: https://doi.org/10.1007/BF00221958]
</p>
</li>
<li>
<p class="mim-text-font">
Traupe, H.
<strong>Functional X-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko.</strong>
Am. J. Med. Genet. 85: 324-329, 1999.
[PubMed: 10398252]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19990806)85:4&lt;324::aid-ajmg2&gt;3.0.co;2-o]
</p>
</li>
<li>
<p class="mim-text-font">
Uwechue, I. C., Cooper, B. F., Goble, C., Hacker, T., Blair, H. J., Burke, D. T., Herman, G., Boyd, Y.
<strong>The mouse X-linked developmental mutant, tattered, lies between DXMit55 and Xkh and is associated with hyperkeratinization.</strong>
Genomics 37: 238-241, 1996.
[PubMed: 8921395]
[Full Text: https://doi.org/10.1006/geno.1996.0549]
</p>
</li>
</ol>
<div>
<br />
</div>
</div>
</div>
<div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
<span class="text-nowrap mim-text-font">
Contributors:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Cassandra L. Kniffin - updated : 9/16/2015<br>Cassandra L. Kniffin - updated : 3/19/2009<br>George E. Tiller - updated : 3/3/2005<br>Victor A. McKusick - updated : 4/13/2004<br>Cassandra L. Kniffin - reorganized : 4/2/2003<br>Ada Hamosh - updated : 3/4/2003<br>Victor A. McKusick - updated : 1/8/2003<br>Sonja A. Rasmussen - updated : 12/11/2000<br>Victor A. McKusick - updated : 9/14/1999<br>Victor A. McKusick - updated : 8/31/1999<br>Victor A. McKusick - updated : 6/24/1999<br>Sonja A. Rasmussen - updated : 5/12/1999
</span>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
<span class="text-nowrap mim-text-font">
Creation Date:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Victor A. McKusick : 2/9/1987
</span>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
<span class="text-nowrap mim-text-font">
Edit History:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
alopez : 10/02/2024<br>carol : 03/02/2022<br>carol : 01/18/2022<br>carol : 05/03/2017<br>carol : 04/18/2016<br>alopez : 4/14/2016<br>carol : 9/21/2015<br>ckniffin : 9/16/2015<br>carol : 3/27/2014<br>terry : 4/4/2013<br>terry : 8/11/2011<br>terry : 8/2/2011<br>terry : 8/2/2011<br>carol : 11/12/2010<br>wwang : 4/9/2009<br>terry : 3/27/2009<br>ckniffin : 3/19/2009<br>carol : 11/28/2005<br>carol : 11/28/2005<br>ckniffin : 11/28/2005<br>ckniffin : 11/17/2005<br>alopez : 3/3/2005<br>tkritzer : 4/19/2004<br>terry : 4/13/2004<br>carol : 4/2/2003<br>carol : 4/2/2003<br>ckniffin : 3/24/2003<br>ckniffin : 3/24/2003<br>cwells : 3/4/2003<br>carol : 1/8/2003<br>cwells : 3/13/2002<br>carol : 8/10/2001<br>cwells : 8/10/2001<br>alopez : 5/25/2001<br>mcapotos : 12/11/2000<br>mcapotos : 12/11/2000<br>alopez : 11/23/1999<br>jlewis : 9/17/1999<br>jlewis : 9/14/1999<br>terry : 8/31/1999<br>alopez : 8/24/1999<br>alopez : 8/24/1999<br>alopez : 6/28/1999<br>terry : 6/24/1999<br>carol : 5/12/1999<br>carol : 3/29/1999<br>mark : 10/13/1995<br>jason : 6/24/1994<br>pfoster : 4/22/1994<br>mimadm : 2/27/1994<br>carol : 10/16/1992<br>carol : 10/13/1992
</span>
</div>
</div>
</div>
<div>
<br />
</div>
</div>
</div>
</div>
</div>
<div id="mimFooter">
<div class="container ">
<div class="row">
<br />
<br />
</div>
</div>
<div class="hidden-print mim-footer">
<div class="container">
<div class="row">
<p />
</div>
<div class="row text-center small">
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
<br />
OMIM<sup>&reg;</sup> and Online Mendelian Inheritance in Man<sup>&reg;</sup> are registered trademarks of the Johns Hopkins University.
<br />
Copyright<sup>&reg;</sup> 1966-2025 Johns Hopkins University.
</div>
</div>
</div>
<div class="visible-print-block mim-footer" style="position: relative;">
<div class="container">
<div class="row">
<p />
</div>
<div class="row text-center small">
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
<br />
OMIM<sup>&reg;</sup> and Online Mendelian Inheritance in Man<sup>&reg;</sup> are registered trademarks of the Johns Hopkins University.
<br />
Copyright<sup>&reg;</sup> 1966-2025 Johns Hopkins University.
<br />
Printed: March 5, 2025
</div>
</div>
</div>
</div>
<div class="modal fade" id="mimDonationPopupModal" tabindex="-1" role="dialog" aria-labelledby="mimDonationPopupModalTitle">
<div class="modal-dialog" role="document">
<div class="modal-content">
<div class="modal-header">
<button type="button" id="mimDonationPopupCancel" class="close" data-dismiss="modal" aria-label="Close"><span aria-hidden="true">&times;</span></button>
<h4 class="modal-title" id="mimDonationPopupModalTitle">
OMIM Donation:
</h4>
</div>
<div class="modal-body">
<div class="row">
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
<p>
Dear OMIM User,
</p>
</div>
</div>
<div class="row">
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
<p>
To ensure long-term funding for the OMIM project, we have diversified
our revenue stream. We are determined to keep this website freely
accessible. Unfortunately, it is not free to produce. Expert curators
review the literature and organize it to facilitate your work. Over 90%
of the OMIM's operating expenses go to salary support for MD and PhD
science writers and biocurators. Please join your colleagues by making a
donation now and again in the future. Donations are an important
component of our efforts to ensure long-term funding to provide you the
information that you need at your fingertips.
</p>
</div>
</div>
<div class="row">
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
<p>
Thank you in advance for your generous support, <br />
Ada Hamosh, MD, MPH <br />
Scientific Director, OMIM <br />
</p>
</div>
</div>
</div>
<div class="modal-footer">
<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
</div>
</div>
</div>
</div>
</div>
</body>
</html>
Reference in a new issue View git blame Copy permalink