3138 lines
223 KiB
Text
3138 lines
223 KiB
Text
|
|
|
|
|
|
|
|
|
|
<!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
|
|
|
|
- #114000 - CAFFEY DISEASE; CAFYD
|
|
|
|
|
|
- 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=114000"><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">#114000</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/114000"><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="#diagnosis">Diagnosis</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="#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;">▼</div>
|
|
|
|
<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;">▼</div>
|
|
|
|
<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=CAFFEY DISEASE" 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=431&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/NBK99168/" 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://medlineplus.gov/genetics/condition/caffey-disease" 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=114000[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=1310" 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/5de60a9d-36d3-4aa9-946a-d1614845bb98/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;">►</div>
|
|
|
|
<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:4257" 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/114000" 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><a href="https://omia.org/results?search_type=advanced&omia_id=000236,000507" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</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.">
|
|
|
|
</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> 24752008<br />
|
|
|
|
|
|
<strong>ICD10CM:</strong> M89.8<br />
|
|
|
|
|
|
|
|
<strong>ORPHA:</strong> 1310<br />
|
|
|
|
|
|
<strong>DO:</strong> 4257<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>
|
|
114000
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
CAFFEY DISEASE; CAFYD
|
|
|
|
</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">
|
|
INFANTILE CORTICAL HYPEROSTOSIS
|
|
</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/17/735?start=-3&limit=10&highlight=735">
|
|
17q21.33
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Caffey disease
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/114000"> 114000 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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">
|
|
COL1A1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120150"> 120150 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/114000" 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>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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/114000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/114000" 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> Skel </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hot, tender swelling of involved bones (e.g., mandible, ribs)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Limbs </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mild congenital leg curvature<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Misc </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Usually appears by 5 months of age<br /> - Fever <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386661006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386661006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50177009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50177009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R50.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.60</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015967&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015967</a>, <a href="https://bioportal.bioontology.org/search?q=C0424755&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424755</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001945" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001945</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001945" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001945</a>]</span><br /> - Specific bones involved different in familial and sporadic cases<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Radiology </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Identified by x-ray in the fetus in utero<br /> - Cortical hyperostosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1394142&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1394142</a>]</span><br /> - Curved tibia<br /> - Irregularity of bone cortex<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Lab </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Thickened periosteum and infiltration of the deeper layers of the periosteum with round cells<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Inheritance </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ 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">▼</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 <span class='glyphicon glyphicon-plus-sign'></span> 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 of evidence that Caffey disease (CAFYD) is caused by heterozygous mutation in the alpha-1 collagen type I gene (COL1A1; <a href="/entry/120150">120150</a>) on chromosome 17q21.</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">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimDescriptionFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>Caffey disease (CAFYD) is an autosomal dominant disorder characterized by an infantile episode of massive subperiosteal new bone formation that typically involves the diaphyses of the long bones, mandible, and clavicles. Painful swelling and systemic fever often accompany the episode, which usually begins before the age of 5 months and resolves before age 2 years. Laboratory findings include an elevated level of alkaline phosphatase and sometimes an elevation in white blood cell count and erythrocyte sedimentation rate. Recurrent episodes are uncommon (summary by <a href="#9" class="mim-tip-reference" title="Gensure, R. C., Makitie, O., Barclay, C., Chan, C., DePalma, S. R., Bastepe, M., Abuzahra, H., Couper, R., Mundlos, S., Sillence, D., Ala Kokko, L., Seidman, J. G., Cole, W. G., Juppner, H. <strong>A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.</strong> J. Clin. Invest. 115: 1250-1257, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15864348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15864348</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15864348[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI22760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15864348">Gensure et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15864348" 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="clinicalFeatures" class="mim-anchor"></a>
|
|
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</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>Caffey disease, also known as infantile cortical hyperostosis, has somewhat unusual features for a hereditary disorder. It rarely if ever appears after 5 months of age and usually resolves spontaneously by 2 years of age; it is sometimes present at birth and has been identified by x-ray in the fetus in utero. The acute manifestations are inflammatory in nature, with fever and hot, tender swelling of involved bones (e.g., mandible, ribs). Despite striking radiologic changes in the acute stages, previously affected bones are often completely normal on restudy. However, <a href="#24" class="mim-tip-reference" title="Taj-Eldin, S., Al-Jawad, J. <strong>Cortical hyperostosis: infantile and juvenile manifestations in a boy.</strong> Arch. Dis. Child. 46: 565-566, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4935623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4935623</a>] [<a href="https://doi.org/10.1136/adc.46.248.565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4935623">Taj-Eldin and Al-Jawad (1971)</a> described a case followed since infancy with recurrences documented up to 19 years of age (1971). (Incontinentia pigmenti (<a href="/entry/308300">308300</a>) is another familial condition in which 'active' lesions at birth and early in life may leave little or no residue.) <a href="#19" class="mim-tip-reference" title="Pickering, D., Cuddigan, B. <strong>Infantile cortical hyperostosis associated with thrombocythaemia.</strong> Lancet 294: 464-465, 1969. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4183907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4183907</a>] [<a href="https://doi.org/10.1016/s0140-6736(69)90168-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4183907">Pickering and Cuddigan (1969)</a> suggested that vascular occlusion secondary to thrombocytosis may be involved in the pathogenesis. X-ray findings in 3 members of the family were reported by <a href="#18" class="mim-tip-reference" title="Pajewski, M., Vure, E. <strong>Late manifestations of infantile cortical hyperostosis (Caffey's disease).</strong> Brit. J. Radiol. 40: 90-95, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5334797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5334797</a>] [<a href="https://doi.org/10.1259/0007-1285-40-470-90" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5334797">Pajewski and Vure (1967)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5334797+4183907+4935623" 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="MacLachlan, A. K., Gerrard, J. W., Houston, C. S., Ives, E. J. <strong>Familial infantile cortical hyperostosis in a large Canadian family.</strong> Canad. Med. Assoc. J. 130: 1172-1174, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6370402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6370402</a>]" pmid="6370402">MacLachlan et al. (1984)</a> followed up on the French-Canadian kindred reported by <a href="#10" class="mim-tip-reference" title="Gerrard, J. W., Holman, G. H., Gorman, A. A., Morrow, I. H. <strong>Familial infantile cortical hyperostosis.</strong> J. Pediat. 59: 543-548, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13898040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13898040</a>] [<a href="https://doi.org/10.1016/s0022-3476(61)80238-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13898040">Gerrard et al. (1961)</a>. To the 14 affected children identified in the original report, 20 new cases were added. <a href="#16" class="mim-tip-reference" title="MacLachlan, A. K., Gerrard, J. W., Houston, C. S., Ives, E. J. <strong>Familial infantile cortical hyperostosis in a large Canadian family.</strong> Canad. Med. Assoc. J. 130: 1172-1174, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6370402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6370402</a>]" pmid="6370402">MacLachlan et al. (1984)</a> commented that the sporadic form of the disorder is disappearing with no such cases seen in the last 7 years. In sporadic cases the bones most often affected are mandible, ulna, and clavicle with fairly frequent involvement of ribs and scapulae. In their radiographic studies of 14 familial cases, no involvement of ribs or scapulae was encountered. Clavicular involvement was found in only 3 children. The tibia was most often involved in familial cases. <a href="#1" class="mim-tip-reference" title="Borochowitz, Z., Gozal, D., Misselevitch, I., Aunallah, J., Boss, J. H. <strong>Familial Caffey's disease and late recurrence in a child.</strong> Clin. Genet. 40: 329-335, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1756606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1756606</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1991.tb03104.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1756606">Borochowitz et al. (1991)</a> described 2 affected sibs in a nonconsanguineous family; a girl had involvement of the fibula at the age of 5 months and a recurrence with tibial involvement at the age of 11 years. Her brother was hospitalized at the age of 4 months because of swelling of the face, fever, and restlessness. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1756606+6370402+13898040" 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="#23" class="mim-tip-reference" title="Suphapeetiporn, K., Tongkobpetch, S., Mahayosnond, A., Shotelersuk, V. <strong>Expanding the phenotypic spectrum of Caffey disease.</strong> Clin. Genet. 71: 280-284, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17309652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17309652</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00768.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17309652">Suphapeetiporn et al. (2007)</a> reported a 3-generation Thai family in which 5 individuals had Caffey disease. The oldest individual, a 75-year-old man, had bowed legs since childhood, several traumatic fractures, short hands, kyphoscoliosis and compression fractures of the vertebrae. Examination of other affected family members showed angular deformities of the long bones, short stature, and dental caries, although unaffected family members also had dental caries. The authors suggested that short stature and persistent bony deformities should be included in the clinical spectrum of Caffey disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17309652" 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>Clinical Variability</em></strong></p><p>
|
|
<a href="#15" class="mim-tip-reference" title="Lecolier, B., Bercau, G., Gonzales, M., Afriat, R., Rambaud, D., Mulliez, N., de Kermadec, S. <strong>Radiographic, haematological, and biochemical findings in a fetus with Caffey disease.</strong> Prenatal Diag. 12: 637-641, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1359527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1359527</a>] [<a href="https://doi.org/10.1002/pd.1970120803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1359527">Lecolier et al. (1992)</a> described a case of prenatal Caffey disease. Ultrasound examination at 20 weeks' gestation detected major angulation of the long bones. Although no fractures were seen, irregularities of the ribs suggested multiple callus formation and the diagnosis of lethal osteogenesis imperfecta was entertained. Cordocentesis showed marked leukocytosis, mainly due to neutrophils, as well as increased serum levels of hepatic enzymes. Because of a rapid appearance of 'fetoplacental anasarca' and a probable diagnosis of osteogenesis imperfecta, pregnancy was terminated at 23 weeks' gestation. Special x-ray views showed a double contour of the diaphyseal cortex of the long bones. Histologic examination confirmed the diagnosis of Caffey disease by demonstration of thickened periosteum and infiltration of the deeper layers of the periosteum with round cells. <a href="#15" class="mim-tip-reference" title="Lecolier, B., Bercau, G., Gonzales, M., Afriat, R., Rambaud, D., Mulliez, N., de Kermadec, S. <strong>Radiographic, haematological, and biochemical findings in a fetus with Caffey disease.</strong> Prenatal Diag. 12: 637-641, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1359527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1359527</a>] [<a href="https://doi.org/10.1002/pd.1970120803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1359527">Lecolier et al. (1992)</a> suggested that this form should be referred to as lethal prenatal cortical hyperostosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1359527" 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>Perinatal death in 2 sibs with Caffey disease was described by <a href="#6" class="mim-tip-reference" title="de Jong, G., Muller, L. M. M. <strong>Perinatal death in two sibs with infantile cortical hyperostosis (Caffey disease).</strong> Am. J. Med. Genet. 59: 134-138, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8588573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8588573</a>] [<a href="https://doi.org/10.1002/ajmg.1320590203" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8588573">de Jong and Muller (1995)</a>. Antenatal sonographic diagnosis was short-limb dwarfism and thoracic dysplasia of a nonspecific type, possibly osteogenesis imperfecta, in the first sib. The second sib had a similar appearance on ultrasonography. The thickened irregularly echodense diaphyses were an aid to diagnosis. <a href="#6" class="mim-tip-reference" title="de Jong, G., Muller, L. M. M. <strong>Perinatal death in two sibs with infantile cortical hyperostosis (Caffey disease).</strong> Am. J. Med. Genet. 59: 134-138, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8588573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8588573</a>] [<a href="https://doi.org/10.1002/ajmg.1320590203" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8588573">De Jong and Muller (1995)</a> agreed with <a href="#15" class="mim-tip-reference" title="Lecolier, B., Bercau, G., Gonzales, M., Afriat, R., Rambaud, D., Mulliez, N., de Kermadec, S. <strong>Radiographic, haematological, and biochemical findings in a fetus with Caffey disease.</strong> Prenatal Diag. 12: 637-641, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1359527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1359527</a>] [<a href="https://doi.org/10.1002/pd.1970120803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1359527">LeColier et al. (1992)</a> that fetoplacental anasarca and polyhydramnios are helpful prognostic signs. The presence of both seems to indicate a very poor prognosis. Autosomal dominant inheritance with subclinical Caffey disease in one of the parents during infancy could not be excluded since incidental discovery of the disease has been reported (<a href="#4" class="mim-tip-reference" title="Cayler, G. G., Peterson, C. A. <strong>Infantile cortical hyperostosis: report of seventeen cases.</strong> Am. J. Dis. Child. 91: 119-125, 1956.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13282620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13282620</a>] [<a href="https://doi.org/10.1001/archpedi.1956.02060020121003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13282620">Cayler and Peterson, 1956</a>). Parental gonadal mosaicism is another possibility. In spite of the absence of parental consanguinity, the occurrence of the condition in a male and a female sib born to healthy parents suggested autosomal recessive inheritance of the lethal prenatal onset type of cortical hyperostosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1359527+13282620+8588573" 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="#13" class="mim-tip-reference" title="Kamoun-Goldrat, A., Martinovic, J., Saada, J., Sonigo-Cohen, P., Razavi, F., Munnich, A., Le Merrer, M. <strong>Prenatal cortical hyperostosis with COL1A1 gene mutation.</strong> Am. J. Med. Genet. 146A: 1820-1824, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18553566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18553566</a>] [<a href="https://doi.org/10.1002/ajmg.a.32351" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18553566">Kamoun-Goldrat et al. (2008)</a> described a fetus that represented the first pregnancy of a young, healthy, nonconsanguineous couple. The pregnancy was medically terminated at 30 weeks' gestation after a diagnosis of severe osteogenesis imperfecta. Postmortem radiographs, autopsy, and histologic study showed typical features of a severe form of prenatal cortical hyperostosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18553566" 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="diagnosis" class="mim-anchor"></a>
|
|
<h4 href="#mimDiagnosisFold" id="mimDiagnosisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDiagnosisToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Diagnosis</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimDiagnosisFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Prenatal Diagnosis</em></strong></p><p>
|
|
<a href="#22" class="mim-tip-reference" title="Stevenson, R. E. <strong>Findings of heritable Caffey disease on ultrasound at 35 1/2 weeks gestation.</strong> Proc. Greenwood Genet. Center 12: 16-18, 1993."None>Stevenson (1993)</a> described a case indicating that Caffey disease can be detected in utero in familial nonlethal cases. Ultrasound examination at age 35.5 weeks showed curvature of the tibia and irregularity of the cortex of the radius. Mild leg curvature was present at birth at 39 weeks; involvement of all long bones was documented radiographically at the age of 2.5 months. A sister, the mother, and a maternal uncle had documented Caffey disease.</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">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Inheritance</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimInheritanceFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>Autosomal dominant inheritance of Caffey disease is suggested by the reports of <a href="#10" class="mim-tip-reference" title="Gerrard, J. W., Holman, G. H., Gorman, A. A., Morrow, I. H. <strong>Familial infantile cortical hyperostosis.</strong> J. Pediat. 59: 543-548, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13898040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13898040</a>] [<a href="https://doi.org/10.1016/s0022-3476(61)80238-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13898040">Gerrard et al. (1961)</a>, <a href="#26" class="mim-tip-reference" title="Van Buskirk, F. W., Tampas, J. P., Peterson, O. S., Jr. <strong>Infantile cortical hyperostosis: an inquiry into its familial aspects.</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 85: 613-632, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13779881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13779881</a>]" pmid="13779881">Van Buskirk et al. (1961)</a>, <a href="#12" class="mim-tip-reference" title="Holman, G. H. <strong>Infantile cortical hyperostosis: a review.</strong> Quart. Rev. Pediat. 17: 24-31, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13908496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13908496</a>]" pmid="13908496">Holman (1962)</a>, and others. Male-to-male transmission was observed by <a href="#26" class="mim-tip-reference" title="Van Buskirk, F. W., Tampas, J. P., Peterson, O. S., Jr. <strong>Infantile cortical hyperostosis: an inquiry into its familial aspects.</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 85: 613-632, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13779881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13779881</a>]" pmid="13779881">Van Buskirk et al. (1961)</a>. <a href="#2" class="mim-tip-reference" title="Bull, M. J., Feingold, M. <strong>Autosomal dominant inheritance of Caffey disease.</strong> Birth Defects Orig. Art. Ser. X: 139-146, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4609117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4609117</a>]" pmid="4609117">Bull and Feingold (1974)</a> reported 2 affected sisters, one of whom had affected son and daughter and the other a normal daughter and affected son. <a href="#8" class="mim-tip-reference" title="Fried, K., Manor, A., Pajewski, M., Starinsky, R., Vure, E. <strong>Autosomal dominant inheritance with incomplete penetrance of Caffey disease (infantile cortical hyperostosis).</strong> Clin. Genet. 19: 271-274, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7023758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7023758</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1981.tb00708.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7023758">Fried et al. (1981)</a> observed 9 affected persons in 3 sibships of 2 generations of a family. One instance of male-to-male transmission and one of apparent nonpenetrance were reported. <a href="#17" class="mim-tip-reference" title="Newberg, A. H., Tampas, J. P. <strong>Familial infantile cortical hyperostosis: an update.</strong> Am. J. Roentgen. 137: 93-96, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6787897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6787897</a>] [<a href="https://doi.org/10.2214/ajr.137.1.93" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6787897">Newberg and Tampas (1981)</a> gave a follow-up on a family with 11 cases reported in 1961 (<a href="#25" class="mim-tip-reference" title="Tampas, J. P., Van Buskirk, F. W., Peterson, O. S., Soule, A. B. <strong>Infantile cortical hyperostosis.</strong> JAMA 175: 491-493, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13775121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13775121</a>] [<a href="https://doi.org/10.1001/jama.1961.63040060003014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13775121">Tampas et al., 1961</a>; <a href="#26" class="mim-tip-reference" title="Van Buskirk, F. W., Tampas, J. P., Peterson, O. S., Jr. <strong>Infantile cortical hyperostosis: an inquiry into its familial aspects.</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 85: 613-632, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13779881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13779881</a>]" pmid="13779881">Van Buskirk et al., 1961</a>). Since then, 10 new cases had occurred, confirming autosomal dominant inheritance. <a href="#7" class="mim-tip-reference" title="Emmery, L., Timmermans, J., Christens, J., Fryns, J. P. <strong>Familial infantile cortical hyperostosis.</strong> Europ. J. Pediat. 141: 56-58, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6357801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6357801</a>] [<a href="https://doi.org/10.1007/BF00445672" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6357801">Emmery et al. (1983)</a> described 8 affected persons in 3 generations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13775121+13779881+6357801+13898040+13908496+7023758+6787897+4609117" 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>Of the 24 affected members of a family segregating Caffey disease in which <a href="#9" class="mim-tip-reference" title="Gensure, R. C., Makitie, O., Barclay, C., Chan, C., DePalma, S. R., Bastepe, M., Abuzahra, H., Couper, R., Mundlos, S., Sillence, D., Ala Kokko, L., Seidman, J. G., Cole, W. G., Juppner, H. <strong>A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.</strong> J. Clin. Invest. 115: 1250-1257, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15864348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15864348</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15864348[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI22760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15864348">Gensure et al. (2005)</a> identified an R836C mutation in the COL1A1 gene (<a href="/entry/120150#0063">120150.0063</a>), only 19 (79%) had experienced an episode of cortical hyperostosis and 5 (21%) obligate carriers had not, consistent with reduced penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15864348" 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">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMappingFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#9" class="mim-tip-reference" title="Gensure, R. C., Makitie, O., Barclay, C., Chan, C., DePalma, S. R., Bastepe, M., Abuzahra, H., Couper, R., Mundlos, S., Sillence, D., Ala Kokko, L., Seidman, J. G., Cole, W. G., Juppner, H. <strong>A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.</strong> J. Clin. Invest. 115: 1250-1257, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15864348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15864348</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15864348[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI22760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15864348">Gensure et al. (2005)</a> performed genomewide mapping of a large family with Caffey disease, which revealed linkage to chromosome 17q21. Fine mapping reduced the linked region to a 2.3-Mb interval between markers D17S1868 and D17S1877; the maximum 2-point lod score obtained was 6.78 for marker D17S1795 (theta = 0.0). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15864348" 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">▼</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 affected individuals and obligate carriers from 3 unrelated families with Caffey disease, <a href="#9" class="mim-tip-reference" title="Gensure, R. C., Makitie, O., Barclay, C., Chan, C., DePalma, S. R., Bastepe, M., Abuzahra, H., Couper, R., Mundlos, S., Sillence, D., Ala Kokko, L., Seidman, J. G., Cole, W. G., Juppner, H. <strong>A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.</strong> J. Clin. Invest. 115: 1250-1257, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15864348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15864348</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15864348[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI22760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15864348">Gensure et al. (2005)</a> identified heterozygosity for an arg836-to-cys mutation in the COL1A1 gene (R836C; <a href="/entry/120150#0063">120150.0063</a>), involving the triple-helical domain of the alpha-1 chain of type I collagen. None of the affected individuals or obligate carriers in any of the families had clinical signs of the major type I collagen disorder, osteogenesis imperfecta (see <a href="/entry/166200">166200</a>); however, in 2 of the 3 families, individuals carrying the mutation did have joint hyperlaxity, hyperextensible skin, and inguinal hernias, features seen in Ehlers-Danlos syndrome (see <a href="/entry/130000">130000</a>), some forms of which are caused by mutations in COL1A1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15864348" 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>In affected members of a Thai family with Caffey disease, <a href="#23" class="mim-tip-reference" title="Suphapeetiporn, K., Tongkobpetch, S., Mahayosnond, A., Shotelersuk, V. <strong>Expanding the phenotypic spectrum of Caffey disease.</strong> Clin. Genet. 71: 280-284, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17309652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17309652</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00768.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17309652">Suphapeetiporn et al. (2007)</a> identified heterozygosity for the R836C mutation in the COL1A1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17309652" 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="#13" class="mim-tip-reference" title="Kamoun-Goldrat, A., Martinovic, J., Saada, J., Sonigo-Cohen, P., Razavi, F., Munnich, A., Le Merrer, M. <strong>Prenatal cortical hyperostosis with COL1A1 gene mutation.</strong> Am. J. Med. Genet. 146A: 1820-1824, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18553566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18553566</a>] [<a href="https://doi.org/10.1002/ajmg.a.32351" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18553566">Kamoun-Goldrat et al. (2008)</a> identified heterozygosity for the R836C mutation in the COL1A1 gene in the pulmonary tissue of a fetus with a severe form of prenatal cortical hyperostosis from a terminated pregnancy at 30 weeks' gestation. They noted that this mutation had not been found in 2 other such cases by <a href="#9" class="mim-tip-reference" title="Gensure, R. C., Makitie, O., Barclay, C., Chan, C., DePalma, S. R., Bastepe, M., Abuzahra, H., Couper, R., Mundlos, S., Sillence, D., Ala Kokko, L., Seidman, J. G., Cole, W. G., Juppner, H. <strong>A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.</strong> J. Clin. Invest. 115: 1250-1257, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15864348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15864348</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15864348[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI22760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15864348">Gensure et al. (2005)</a> and speculated that mutations in other genes were likely involved in the prenatal and infantile forms of cortical hyperostosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18553566+15864348" 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>Associations Pending Confirmation</em></strong></p><p>
|
|
For a discussion of a possible association between Caffey disease and variation in the AHSG gene, see <a href="/entry/138680#0005">138680.0005</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">▼</span>
|
|
<span class="mim-font">
|
|
<strong>History</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimHistoryFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>See <a href="#11" class="mim-tip-reference" title="Griscom, N. T. <strong>John Caffey and his contributions to radiology.</strong> Radiology 194: 513-518, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7824734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7824734</a>] [<a href="https://doi.org/10.1148/radiology.194.2.7824734" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7824734">Griscom (1995)</a> for a biographic account of John Caffey (1895-1978). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7824734" 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">▼</span>
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<a href="#Caffey1945" class="mim-tip-reference" title="Caffey, J., Silverman, W. <strong>Infantile cortical hyperostosis, preliminary report on new syndrome.</strong> Am. J. Roentgen. 54: 1-16, 1945.">Caffey and Silverman (1945)</a>; <a href="#Clemett1963" class="mim-tip-reference" title="Clemett, A. R., Williams, J. H. <strong>The familial occurrence of infantile cortical hyperostosis.</strong> Radiology 80: 409-416, 1963.">Clemett and Williams (1963)</a>; <a href="#Langewisch1975" class="mim-tip-reference" title="Langewisch, W. H. <strong>Infantile cortical hyperostosis--familial occurrence in a mother and daughter.</strong> J. Pediat. 87: 323-324, 1975.">Langewisch
|
|
(1975)</a>; <a href="#Sherman1950" class="mim-tip-reference" title="Sherman, M. S., Hellyer, D. T. <strong>Infantile cortical hyperostosis: review of the literature and report of 5 cases.</strong> Am. J. Roentgen. 63: 212-222, 1950.">Sherman and Hellyer (1950)</a>; <a href="#Sidbury1957" class="mim-tip-reference" title="Sidbury, J. B., Jr. <strong>Infantile cortical hyperostosis.</strong> Postgrad. Med. 22: 211-215, 1957.">Sidbury (1957)</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">▼</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="Borochowitz1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Borochowitz, Z., Gozal, D., Misselevitch, I., Aunallah, J., Boss, J. H.
|
|
<strong>Familial Caffey's disease and late recurrence in a child.</strong>
|
|
Clin. Genet. 40: 329-335, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1756606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1756606</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1756606" 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.1399-0004.1991.tb03104.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Bull1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bull, M. J., Feingold, M.
|
|
<strong>Autosomal dominant inheritance of Caffey disease.</strong>
|
|
Birth Defects Orig. Art. Ser. X: 139-146, 1974.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4609117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4609117</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4609117" 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="3" class="mim-anchor"></a>
|
|
<a id="Caffey1945" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Caffey, J., Silverman, W.
|
|
<strong>Infantile cortical hyperostosis, preliminary report on new syndrome.</strong>
|
|
Am. J. Roentgen. 54: 1-16, 1945.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Cayler1956" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cayler, G. G., Peterson, C. A.
|
|
<strong>Infantile cortical hyperostosis: report of seventeen cases.</strong>
|
|
Am. J. Dis. Child. 91: 119-125, 1956.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13282620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13282620</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13282620" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archpedi.1956.02060020121003" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Clemett1963" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Clemett, A. R., Williams, J. H.
|
|
<strong>The familial occurrence of infantile cortical hyperostosis.</strong>
|
|
Radiology 80: 409-416, 1963.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14021697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14021697</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14021697" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1148/80.3.409" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="de Jong1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
de Jong, G., Muller, L. M. M.
|
|
<strong>Perinatal death in two sibs with infantile cortical hyperostosis (Caffey disease).</strong>
|
|
Am. J. Med. Genet. 59: 134-138, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8588573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8588573</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8588573" 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.1320590203" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Emmery1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Emmery, L., Timmermans, J., Christens, J., Fryns, J. P.
|
|
<strong>Familial infantile cortical hyperostosis.</strong>
|
|
Europ. J. Pediat. 141: 56-58, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6357801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6357801</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6357801" 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/BF00445672" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Fried1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fried, K., Manor, A., Pajewski, M., Starinsky, R., Vure, E.
|
|
<strong>Autosomal dominant inheritance with incomplete penetrance of Caffey disease (infantile cortical hyperostosis).</strong>
|
|
Clin. Genet. 19: 271-274, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7023758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7023758</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7023758" 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.1399-0004.1981.tb00708.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Gensure2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gensure, R. C., Makitie, O., Barclay, C., Chan, C., DePalma, S. R., Bastepe, M., Abuzahra, H., Couper, R., Mundlos, S., Sillence, D., Ala Kokko, L., Seidman, J. G., Cole, W. G., Juppner, H.
|
|
<strong>A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.</strong>
|
|
J. Clin. Invest. 115: 1250-1257, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15864348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15864348</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15864348[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15864348" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI22760" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Gerrard1961" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gerrard, J. W., Holman, G. H., Gorman, A. A., Morrow, I. H.
|
|
<strong>Familial infantile cortical hyperostosis.</strong>
|
|
J. Pediat. 59: 543-548, 1961.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13898040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13898040</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13898040" 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/s0022-3476(61)80238-2" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Griscom1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Griscom, N. T.
|
|
<strong>John Caffey and his contributions to radiology.</strong>
|
|
Radiology 194: 513-518, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7824734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7824734</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7824734" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1148/radiology.194.2.7824734" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Holman1962" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Holman, G. H.
|
|
<strong>Infantile cortical hyperostosis: a review.</strong>
|
|
Quart. Rev. Pediat. 17: 24-31, 1962.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13908496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13908496</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13908496" 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="13" class="mim-anchor"></a>
|
|
<a id="Kamoun-Goldrat2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kamoun-Goldrat, A., Martinovic, J., Saada, J., Sonigo-Cohen, P., Razavi, F., Munnich, A., Le Merrer, M.
|
|
<strong>Prenatal cortical hyperostosis with COL1A1 gene mutation.</strong>
|
|
Am. J. Med. Genet. 146A: 1820-1824, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18553566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18553566</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18553566" 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.32351" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Langewisch1975" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Langewisch, W. H.
|
|
<strong>Infantile cortical hyperostosis--familial occurrence in a mother and daughter.</strong>
|
|
J. Pediat. 87: 323-324, 1975.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1097622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1097622</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1097622" 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/s0022-3476(75)80612-3" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Lecolier1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lecolier, B., Bercau, G., Gonzales, M., Afriat, R., Rambaud, D., Mulliez, N., de Kermadec, S.
|
|
<strong>Radiographic, haematological, and biochemical findings in a fetus with Caffey disease.</strong>
|
|
Prenatal Diag. 12: 637-641, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1359527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1359527</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1359527" 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/pd.1970120803" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="MacLachlan1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
MacLachlan, A. K., Gerrard, J. W., Houston, C. S., Ives, E. J.
|
|
<strong>Familial infantile cortical hyperostosis in a large Canadian family.</strong>
|
|
Canad. Med. Assoc. J. 130: 1172-1174, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6370402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6370402</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6370402" 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="17" class="mim-anchor"></a>
|
|
<a id="Newberg1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Newberg, A. H., Tampas, J. P.
|
|
<strong>Familial infantile cortical hyperostosis: an update.</strong>
|
|
Am. J. Roentgen. 137: 93-96, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6787897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6787897</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6787897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.2214/ajr.137.1.93" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Pajewski1967" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pajewski, M., Vure, E.
|
|
<strong>Late manifestations of infantile cortical hyperostosis (Caffey's disease).</strong>
|
|
Brit. J. Radiol. 40: 90-95, 1967.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5334797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5334797</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5334797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1259/0007-1285-40-470-90" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Pickering1969" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pickering, D., Cuddigan, B.
|
|
<strong>Infantile cortical hyperostosis associated with thrombocythaemia.</strong>
|
|
Lancet 294: 464-465, 1969. Note: Originally Volume II.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4183907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4183907</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4183907" 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(69)90168-8" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Sherman1950" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sherman, M. S., Hellyer, D. T.
|
|
<strong>Infantile cortical hyperostosis: review of the literature and report of 5 cases.</strong>
|
|
Am. J. Roentgen. 63: 212-222, 1950.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Sidbury1957" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sidbury, J. B., Jr.
|
|
<strong>Infantile cortical hyperostosis.</strong>
|
|
Postgrad. Med. 22: 211-215, 1957.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13465549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13465549</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13465549" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1080/00325481.1957.11691897" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Stevenson1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Stevenson, R. E.
|
|
<strong>Findings of heritable Caffey disease on ultrasound at 35 1/2 weeks gestation.</strong>
|
|
Proc. Greenwood Genet. Center 12: 16-18, 1993.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Suphapeetiporn2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Suphapeetiporn, K., Tongkobpetch, S., Mahayosnond, A., Shotelersuk, V.
|
|
<strong>Expanding the phenotypic spectrum of Caffey disease.</strong>
|
|
Clin. Genet. 71: 280-284, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17309652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17309652</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17309652" 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.1399-0004.2007.00768.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Taj-Eldin1971" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Taj-Eldin, S., Al-Jawad, J.
|
|
<strong>Cortical hyperostosis: infantile and juvenile manifestations in a boy.</strong>
|
|
Arch. Dis. Child. 46: 565-566, 1971.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4935623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4935623</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4935623" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/adc.46.248.565" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Tampas1961" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tampas, J. P., Van Buskirk, F. W., Peterson, O. S., Soule, A. B.
|
|
<strong>Infantile cortical hyperostosis.</strong>
|
|
JAMA 175: 491-493, 1961.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13775121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13775121</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13775121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/jama.1961.63040060003014" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Van Buskirk1961" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Van Buskirk, F. W., Tampas, J. P., Peterson, O. S., Jr.
|
|
<strong>Infantile cortical hyperostosis: an inquiry into its familial aspects.</strong>
|
|
Am. J. Roentgen. Radium Ther. Nucl. Med. 85: 613-632, 1961.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13779881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13779881</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13779881" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</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">
|
|
Nara Sobreira - updated : 6/17/2009
|
|
</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 : 8/29/2007<br>Marla J. F. O'Neill - updated : 5/20/2005
|
|
</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 : 6/4/1986
|
|
</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">
|
|
carol : 01/03/2024
|
|
</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 : 01/02/2024<br>alopez : 02/15/2022<br>carol : 01/28/2020<br>carol : 01/21/2015<br>carol : 4/5/2012<br>carol : 6/18/2009<br>terry : 6/17/2009<br>terry : 6/3/2009<br>terry : 1/8/2009<br>wwang : 9/10/2007<br>ckniffin : 8/29/2007<br>carol : 6/23/2005<br>carol : 6/23/2005<br>carol : 5/25/2005<br>wwang : 5/23/2005<br>terry : 5/20/2005<br>alopez : 3/17/2004<br>alopez : 4/8/1999<br>alopez : 7/9/1997<br>terry : 3/26/1996<br>mark : 1/16/1996<br>terry : 1/11/1996<br>carol : 3/7/1995<br>davew : 6/9/1994<br>terry : 5/13/1994<br>mimadm : 4/9/1994<br>warfield : 4/6/1994<br>carol : 10/26/1993
|
|
</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> 114000
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
CAFFEY DISEASE; CAFYD
|
|
|
|
</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">
|
|
INFANTILE CORTICAL HYPEROSTOSIS
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 24752008;
|
|
|
|
|
|
<strong>ICD10CM:</strong> M89.8;
|
|
|
|
|
|
|
|
<strong>ORPHA:</strong> 1310;
|
|
|
|
|
|
<strong>DO:</strong> 4257;
|
|
|
|
|
|
</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">
|
|
17q21.33
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Caffey disease
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
114000
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
COL1A1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
120150
|
|
</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 of evidence that Caffey disease (CAFYD) is caused by heterozygous mutation in the alpha-1 collagen type I gene (COL1A1; 120150) on chromosome 17q21.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Caffey disease (CAFYD) is an autosomal dominant disorder characterized by an infantile episode of massive subperiosteal new bone formation that typically involves the diaphyses of the long bones, mandible, and clavicles. Painful swelling and systemic fever often accompany the episode, which usually begins before the age of 5 months and resolves before age 2 years. Laboratory findings include an elevated level of alkaline phosphatase and sometimes an elevation in white blood cell count and erythrocyte sedimentation rate. Recurrent episodes are uncommon (summary by Gensure et al., 2005). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Caffey disease, also known as infantile cortical hyperostosis, has somewhat unusual features for a hereditary disorder. It rarely if ever appears after 5 months of age and usually resolves spontaneously by 2 years of age; it is sometimes present at birth and has been identified by x-ray in the fetus in utero. The acute manifestations are inflammatory in nature, with fever and hot, tender swelling of involved bones (e.g., mandible, ribs). Despite striking radiologic changes in the acute stages, previously affected bones are often completely normal on restudy. However, Taj-Eldin and Al-Jawad (1971) described a case followed since infancy with recurrences documented up to 19 years of age (1971). (Incontinentia pigmenti (308300) is another familial condition in which 'active' lesions at birth and early in life may leave little or no residue.) Pickering and Cuddigan (1969) suggested that vascular occlusion secondary to thrombocytosis may be involved in the pathogenesis. X-ray findings in 3 members of the family were reported by Pajewski and Vure (1967). </p><p>MacLachlan et al. (1984) followed up on the French-Canadian kindred reported by Gerrard et al. (1961). To the 14 affected children identified in the original report, 20 new cases were added. MacLachlan et al. (1984) commented that the sporadic form of the disorder is disappearing with no such cases seen in the last 7 years. In sporadic cases the bones most often affected are mandible, ulna, and clavicle with fairly frequent involvement of ribs and scapulae. In their radiographic studies of 14 familial cases, no involvement of ribs or scapulae was encountered. Clavicular involvement was found in only 3 children. The tibia was most often involved in familial cases. Borochowitz et al. (1991) described 2 affected sibs in a nonconsanguineous family; a girl had involvement of the fibula at the age of 5 months and a recurrence with tibial involvement at the age of 11 years. Her brother was hospitalized at the age of 4 months because of swelling of the face, fever, and restlessness. </p><p>Suphapeetiporn et al. (2007) reported a 3-generation Thai family in which 5 individuals had Caffey disease. The oldest individual, a 75-year-old man, had bowed legs since childhood, several traumatic fractures, short hands, kyphoscoliosis and compression fractures of the vertebrae. Examination of other affected family members showed angular deformities of the long bones, short stature, and dental caries, although unaffected family members also had dental caries. The authors suggested that short stature and persistent bony deformities should be included in the clinical spectrum of Caffey disease. </p><p><strong><em>Clinical Variability</em></strong></p><p>
|
|
Lecolier et al. (1992) described a case of prenatal Caffey disease. Ultrasound examination at 20 weeks' gestation detected major angulation of the long bones. Although no fractures were seen, irregularities of the ribs suggested multiple callus formation and the diagnosis of lethal osteogenesis imperfecta was entertained. Cordocentesis showed marked leukocytosis, mainly due to neutrophils, as well as increased serum levels of hepatic enzymes. Because of a rapid appearance of 'fetoplacental anasarca' and a probable diagnosis of osteogenesis imperfecta, pregnancy was terminated at 23 weeks' gestation. Special x-ray views showed a double contour of the diaphyseal cortex of the long bones. Histologic examination confirmed the diagnosis of Caffey disease by demonstration of thickened periosteum and infiltration of the deeper layers of the periosteum with round cells. Lecolier et al. (1992) suggested that this form should be referred to as lethal prenatal cortical hyperostosis. </p><p>Perinatal death in 2 sibs with Caffey disease was described by de Jong and Muller (1995). Antenatal sonographic diagnosis was short-limb dwarfism and thoracic dysplasia of a nonspecific type, possibly osteogenesis imperfecta, in the first sib. The second sib had a similar appearance on ultrasonography. The thickened irregularly echodense diaphyses were an aid to diagnosis. De Jong and Muller (1995) agreed with LeColier et al. (1992) that fetoplacental anasarca and polyhydramnios are helpful prognostic signs. The presence of both seems to indicate a very poor prognosis. Autosomal dominant inheritance with subclinical Caffey disease in one of the parents during infancy could not be excluded since incidental discovery of the disease has been reported (Cayler and Peterson, 1956). Parental gonadal mosaicism is another possibility. In spite of the absence of parental consanguinity, the occurrence of the condition in a male and a female sib born to healthy parents suggested autosomal recessive inheritance of the lethal prenatal onset type of cortical hyperostosis. </p><p>Kamoun-Goldrat et al. (2008) described a fetus that represented the first pregnancy of a young, healthy, nonconsanguineous couple. The pregnancy was medically terminated at 30 weeks' gestation after a diagnosis of severe osteogenesis imperfecta. Postmortem radiographs, autopsy, and histologic study showed typical features of a severe form of prenatal cortical hyperostosis. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Diagnosis</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Prenatal Diagnosis</em></strong></p><p>
|
|
Stevenson (1993) described a case indicating that Caffey disease can be detected in utero in familial nonlethal cases. Ultrasound examination at age 35.5 weeks showed curvature of the tibia and irregularity of the cortex of the radius. Mild leg curvature was present at birth at 39 weeks; involvement of all long bones was documented radiographically at the age of 2.5 months. A sister, the mother, and a maternal uncle had documented Caffey disease.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Inheritance</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Autosomal dominant inheritance of Caffey disease is suggested by the reports of Gerrard et al. (1961), Van Buskirk et al. (1961), Holman (1962), and others. Male-to-male transmission was observed by Van Buskirk et al. (1961). Bull and Feingold (1974) reported 2 affected sisters, one of whom had affected son and daughter and the other a normal daughter and affected son. Fried et al. (1981) observed 9 affected persons in 3 sibships of 2 generations of a family. One instance of male-to-male transmission and one of apparent nonpenetrance were reported. Newberg and Tampas (1981) gave a follow-up on a family with 11 cases reported in 1961 (Tampas et al., 1961; Van Buskirk et al., 1961). Since then, 10 new cases had occurred, confirming autosomal dominant inheritance. Emmery et al. (1983) described 8 affected persons in 3 generations. </p><p>Of the 24 affected members of a family segregating Caffey disease in which Gensure et al. (2005) identified an R836C mutation in the COL1A1 gene (120150.0063), only 19 (79%) had experienced an episode of cortical hyperostosis and 5 (21%) obligate carriers had not, consistent with reduced penetrance. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Gensure et al. (2005) performed genomewide mapping of a large family with Caffey disease, which revealed linkage to chromosome 17q21. Fine mapping reduced the linked region to a 2.3-Mb interval between markers D17S1868 and D17S1877; the maximum 2-point lod score obtained was 6.78 for marker D17S1795 (theta = 0.0). </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 affected individuals and obligate carriers from 3 unrelated families with Caffey disease, Gensure et al. (2005) identified heterozygosity for an arg836-to-cys mutation in the COL1A1 gene (R836C; 120150.0063), involving the triple-helical domain of the alpha-1 chain of type I collagen. None of the affected individuals or obligate carriers in any of the families had clinical signs of the major type I collagen disorder, osteogenesis imperfecta (see 166200); however, in 2 of the 3 families, individuals carrying the mutation did have joint hyperlaxity, hyperextensible skin, and inguinal hernias, features seen in Ehlers-Danlos syndrome (see 130000), some forms of which are caused by mutations in COL1A1. </p><p>In affected members of a Thai family with Caffey disease, Suphapeetiporn et al. (2007) identified heterozygosity for the R836C mutation in the COL1A1 gene. </p><p>Kamoun-Goldrat et al. (2008) identified heterozygosity for the R836C mutation in the COL1A1 gene in the pulmonary tissue of a fetus with a severe form of prenatal cortical hyperostosis from a terminated pregnancy at 30 weeks' gestation. They noted that this mutation had not been found in 2 other such cases by Gensure et al. (2005) and speculated that mutations in other genes were likely involved in the prenatal and infantile forms of cortical hyperostosis. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
|
|
For a discussion of a possible association between Caffey disease and variation in the AHSG gene, see 138680.0005.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>History</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>See Griscom (1995) for a biographic account of John Caffey (1895-1978). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Caffey and Silverman (1945); Clemett and Williams (1963); Langewisch
|
|
(1975); Sherman and Hellyer (1950); Sidbury (1957)
|
|
</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">
|
|
Borochowitz, Z., Gozal, D., Misselevitch, I., Aunallah, J., Boss, J. H.
|
|
<strong>Familial Caffey's disease and late recurrence in a child.</strong>
|
|
Clin. Genet. 40: 329-335, 1991.
|
|
|
|
|
|
[PubMed: 1756606]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1991.tb03104.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bull, M. J., Feingold, M.
|
|
<strong>Autosomal dominant inheritance of Caffey disease.</strong>
|
|
Birth Defects Orig. Art. Ser. X: 139-146, 1974.
|
|
|
|
|
|
[PubMed: 4609117]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Caffey, J., Silverman, W.
|
|
<strong>Infantile cortical hyperostosis, preliminary report on new syndrome.</strong>
|
|
Am. J. Roentgen. 54: 1-16, 1945.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cayler, G. G., Peterson, C. A.
|
|
<strong>Infantile cortical hyperostosis: report of seventeen cases.</strong>
|
|
Am. J. Dis. Child. 91: 119-125, 1956.
|
|
|
|
|
|
[PubMed: 13282620]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archpedi.1956.02060020121003]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Clemett, A. R., Williams, J. H.
|
|
<strong>The familial occurrence of infantile cortical hyperostosis.</strong>
|
|
Radiology 80: 409-416, 1963.
|
|
|
|
|
|
[PubMed: 14021697]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1148/80.3.409]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
de Jong, G., Muller, L. M. M.
|
|
<strong>Perinatal death in two sibs with infantile cortical hyperostosis (Caffey disease).</strong>
|
|
Am. J. Med. Genet. 59: 134-138, 1995.
|
|
|
|
|
|
[PubMed: 8588573]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320590203]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Emmery, L., Timmermans, J., Christens, J., Fryns, J. P.
|
|
<strong>Familial infantile cortical hyperostosis.</strong>
|
|
Europ. J. Pediat. 141: 56-58, 1983.
|
|
|
|
|
|
[PubMed: 6357801]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00445672]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fried, K., Manor, A., Pajewski, M., Starinsky, R., Vure, E.
|
|
<strong>Autosomal dominant inheritance with incomplete penetrance of Caffey disease (infantile cortical hyperostosis).</strong>
|
|
Clin. Genet. 19: 271-274, 1981.
|
|
|
|
|
|
[PubMed: 7023758]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1981.tb00708.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gensure, R. C., Makitie, O., Barclay, C., Chan, C., DePalma, S. R., Bastepe, M., Abuzahra, H., Couper, R., Mundlos, S., Sillence, D., Ala Kokko, L., Seidman, J. G., Cole, W. G., Juppner, H.
|
|
<strong>A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.</strong>
|
|
J. Clin. Invest. 115: 1250-1257, 2005.
|
|
|
|
|
|
[PubMed: 15864348]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI22760]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gerrard, J. W., Holman, G. H., Gorman, A. A., Morrow, I. H.
|
|
<strong>Familial infantile cortical hyperostosis.</strong>
|
|
J. Pediat. 59: 543-548, 1961.
|
|
|
|
|
|
[PubMed: 13898040]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(61)80238-2]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Griscom, N. T.
|
|
<strong>John Caffey and his contributions to radiology.</strong>
|
|
Radiology 194: 513-518, 1995.
|
|
|
|
|
|
[PubMed: 7824734]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1148/radiology.194.2.7824734]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Holman, G. H.
|
|
<strong>Infantile cortical hyperostosis: a review.</strong>
|
|
Quart. Rev. Pediat. 17: 24-31, 1962.
|
|
|
|
|
|
[PubMed: 13908496]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kamoun-Goldrat, A., Martinovic, J., Saada, J., Sonigo-Cohen, P., Razavi, F., Munnich, A., Le Merrer, M.
|
|
<strong>Prenatal cortical hyperostosis with COL1A1 gene mutation.</strong>
|
|
Am. J. Med. Genet. 146A: 1820-1824, 2008.
|
|
|
|
|
|
[PubMed: 18553566]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.32351]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Langewisch, W. H.
|
|
<strong>Infantile cortical hyperostosis--familial occurrence in a mother and daughter.</strong>
|
|
J. Pediat. 87: 323-324, 1975.
|
|
|
|
|
|
[PubMed: 1097622]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(75)80612-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lecolier, B., Bercau, G., Gonzales, M., Afriat, R., Rambaud, D., Mulliez, N., de Kermadec, S.
|
|
<strong>Radiographic, haematological, and biochemical findings in a fetus with Caffey disease.</strong>
|
|
Prenatal Diag. 12: 637-641, 1992.
|
|
|
|
|
|
[PubMed: 1359527]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/pd.1970120803]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
MacLachlan, A. K., Gerrard, J. W., Houston, C. S., Ives, E. J.
|
|
<strong>Familial infantile cortical hyperostosis in a large Canadian family.</strong>
|
|
Canad. Med. Assoc. J. 130: 1172-1174, 1984.
|
|
|
|
|
|
[PubMed: 6370402]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Newberg, A. H., Tampas, J. P.
|
|
<strong>Familial infantile cortical hyperostosis: an update.</strong>
|
|
Am. J. Roentgen. 137: 93-96, 1981.
|
|
|
|
|
|
[PubMed: 6787897]
|
|
|
|
|
|
[Full Text: https://doi.org/10.2214/ajr.137.1.93]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pajewski, M., Vure, E.
|
|
<strong>Late manifestations of infantile cortical hyperostosis (Caffey's disease).</strong>
|
|
Brit. J. Radiol. 40: 90-95, 1967.
|
|
|
|
|
|
[PubMed: 5334797]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1259/0007-1285-40-470-90]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pickering, D., Cuddigan, B.
|
|
<strong>Infantile cortical hyperostosis associated with thrombocythaemia.</strong>
|
|
Lancet 294: 464-465, 1969. Note: Originally Volume II.
|
|
|
|
|
|
[PubMed: 4183907]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(69)90168-8]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sherman, M. S., Hellyer, D. T.
|
|
<strong>Infantile cortical hyperostosis: review of the literature and report of 5 cases.</strong>
|
|
Am. J. Roentgen. 63: 212-222, 1950.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sidbury, J. B., Jr.
|
|
<strong>Infantile cortical hyperostosis.</strong>
|
|
Postgrad. Med. 22: 211-215, 1957.
|
|
|
|
|
|
[PubMed: 13465549]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1080/00325481.1957.11691897]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Stevenson, R. E.
|
|
<strong>Findings of heritable Caffey disease on ultrasound at 35 1/2 weeks gestation.</strong>
|
|
Proc. Greenwood Genet. Center 12: 16-18, 1993.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Suphapeetiporn, K., Tongkobpetch, S., Mahayosnond, A., Shotelersuk, V.
|
|
<strong>Expanding the phenotypic spectrum of Caffey disease.</strong>
|
|
Clin. Genet. 71: 280-284, 2007.
|
|
|
|
|
|
[PubMed: 17309652]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.2007.00768.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Taj-Eldin, S., Al-Jawad, J.
|
|
<strong>Cortical hyperostosis: infantile and juvenile manifestations in a boy.</strong>
|
|
Arch. Dis. Child. 46: 565-566, 1971.
|
|
|
|
|
|
[PubMed: 4935623]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/adc.46.248.565]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tampas, J. P., Van Buskirk, F. W., Peterson, O. S., Soule, A. B.
|
|
<strong>Infantile cortical hyperostosis.</strong>
|
|
JAMA 175: 491-493, 1961.
|
|
|
|
|
|
[PubMed: 13775121]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/jama.1961.63040060003014]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Van Buskirk, F. W., Tampas, J. P., Peterson, O. S., Jr.
|
|
<strong>Infantile cortical hyperostosis: an inquiry into its familial aspects.</strong>
|
|
Am. J. Roentgen. Radium Ther. Nucl. Med. 85: 613-632, 1961.
|
|
|
|
|
|
[PubMed: 13779881]
|
|
|
|
|
|
|
|
</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">
|
|
Nara Sobreira - updated : 6/17/2009<br>Cassandra L. Kniffin - updated : 8/29/2007<br>Marla J. F. O'Neill - updated : 5/20/2005
|
|
</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 : 6/4/1986
|
|
</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">
|
|
carol : 01/03/2024<br>carol : 01/02/2024<br>alopez : 02/15/2022<br>carol : 01/28/2020<br>carol : 01/21/2015<br>carol : 4/5/2012<br>carol : 6/18/2009<br>terry : 6/17/2009<br>terry : 6/3/2009<br>terry : 1/8/2009<br>wwang : 9/10/2007<br>ckniffin : 8/29/2007<br>carol : 6/23/2005<br>carol : 6/23/2005<br>carol : 5/25/2005<br>wwang : 5/23/2005<br>terry : 5/20/2005<br>alopez : 3/17/2004<br>alopez : 4/8/1999<br>alopez : 7/9/1997<br>terry : 3/26/1996<br>mark : 1/16/1996<br>terry : 1/11/1996<br>carol : 3/7/1995<br>davew : 6/9/1994<br>terry : 5/13/1994<br>mimadm : 4/9/1994<br>warfield : 4/6/1994<br>carol : 10/26/1993
|
|
</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>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</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>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</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">×</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>
|
|
|
|
|