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<meta name="keywords" content="C0265287, acmicd, acromicric dysplasia, acromicric skeletal dysplasia, congenital abnormality, fbn1, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Acromicric dysplasia (ACMICD) is an autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal (summary by Le Goff et al., 2011). Allelic disorders with overlapping skeletal and joint features include geleophysic dysplasia-2 (GPHYSD2; 614185) and the autosomal dominant form of Weill-Marchesani syndrome (608328)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=78549
|
||
ConceptID=C0265287
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Acromicric dysplasia<span class="h1sub">(ACMICD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78549</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0265287</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>ACMICD; Acromicric skeletal dysplasia</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Acromicric dysplasia (254090007)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="FBN1 - ID: 2200 - NCBI Gene" href="/gene/2200" class="medgenPMinfo">FBN1</a> (15q21.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007055" target="_blank">MONDO:0007055</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/102370" target="_blank">102370</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=969">ORPHA969</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Acromicric dysplasia (ACMICD) is an autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal (summary by Le Goff et al., 2011). Allelic disorders with overlapping skeletal and joint features include geleophysic dysplasia-2 (GPHYSD2; 614185) and the autosomal dominant form of Weill-Marchesani syndrome (608328). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Acromicric dysplasia is a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features.<br /><br />Newborns with acromicric dysplasia are of normal size, but slow growth over time results in short stature. The average height of adults with this disorder is about 4 feet, 2 inches for women and 4 feet, 5 inches for men. The long bones of the arms and legs, and the bones in the hands and feet, are shorter than would be expected for the individual's height. Other skeletal features that occur in this disorder include slowed mineralization of bone (delayed bone age), abnormally shaped bones of the spine (vertebrae), and constrained movement of joints. Affected individuals often develop carpal tunnel syndrome, which is characterized by numbness, tingling, and weakness in the hands and fingers. A misalignment of the hip joints (hip dysplasia) can also occur in this disorder. These skeletal and joint problems may require treatment, but most affected individuals have few limitations in their activities.<br /><br />Children with acromicric dysplasia may have a round face, sharply defined eyebrows, long eyelashes, a bulbous nose with upturned nostrils, a long space between the nose and upper lip (long philtrum), and a small mouth with thick lips. These facial differences become less apparent in adulthood. Intelligence is unaffected in this disorder, and life expectancy is generally normal. <a target="_blank" href="https://medlineplus.gov/genetics/condition/acromicric-dysplasia">https://medlineplus.gov/genetics/condition/acromicric-dysplasia</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_163753"><div><strong>Short phalanx of finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163753</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0877165</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Short (hypoplastic) phalanx of finger, affecting one or more phalanges.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163753">Feature record</a> | <a href="/medgen?term=%22Short%20phalanx%20of%20finger%22%5BClinical%20Features%5D%20OR%20163753%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_323064"><div><strong>Short metacarpal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323064</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1837084</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323064">Feature record</a> | <a href="/medgen?term=%22Short%20metacarpal%22%5BClinical%20Features%5D%20OR%20323064%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334684"><div><strong>Short palm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334684</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1843108</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Short palm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334684">Feature record</a> | <a href="/medgen?term=%22Short%20palm%22%5BClinical%20Features%5D%20OR%20334684%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_376415"><div><strong>Short foot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376415</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1848673</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376415">Feature record</a> | <a href="/medgen?term=%22Short%20foot%22%5BClinical%20Features%5D%20OR%20376415%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_477954"><div><strong>Fifth metacarpal with ulnar notch</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477954</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3276324</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/477954">Feature record</a> | <a href="/medgen?term=%22Fifth%20metacarpal%20with%20ulnar%20notch%22%5BClinical%20Features%5D%20OR%20477954%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3931"><div><strong>Severe short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3931</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0013336</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3931">Feature record</a> | <a href="/medgen?term=%22Severe%20short%20stature%22%5BClinical%20Features%5D%20OR%203931%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108148"><div><strong>Delayed skeletal maturation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108148</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0541764</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108148">Feature record</a> | <a href="/medgen?term=%22Delayed%20skeletal%20maturation%22%5BClinical%20Features%5D%20OR%20108148%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_344385"><div><strong>Short long bone</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344385</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1854912</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">One or more abnormally short long bone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344385">Feature record</a> | <a href="/medgen?term=%22Short%20long%20bone%22%5BClinical%20Features%5D%20OR%20344385%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_344549"><div><strong>Ovoid vertebral bodies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344549</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855665</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344549">Feature record</a> | <a href="/medgen?term=%22Ovoid%20vertebral%20bodies%22%5BClinical%20Features%5D%20OR%20344549%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_351282"><div><strong>Cone-shaped epiphysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351282</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1865037</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/351282">Feature record</a> | <a href="/medgen?term=%22Cone-shaped%20epiphysis%22%5BClinical%20Features%5D%20OR%20351282%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5602"><div><strong>Hoarse voice</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5602</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0019825</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5602">Feature record</a> | <a href="/medgen?term=%22Hoarse%20voice%22%5BClinical%20Features%5D%20OR%205602%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44435"><div><strong>Narrow mouth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44435</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026034</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44435">Feature record</a> | <a href="/medgen?term=%22Narrow%20mouth%22%5BClinical%20Features%5D%20OR%2044435%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116087"><div><strong>Round face</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116087</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0239479</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The facial appearance is more circular than usual as viewed from the front.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116087">Feature record</a> | <a href="/medgen?term=%22Round%20face%22%5BClinical%20Features%5D%20OR%20116087%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66013"><div><strong>Bulbous nose</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66013</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0240543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased volume and globular shape of the anteroinferior aspect of the nose.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66013">Feature record</a> | <a href="/medgen?term=%22Bulbous%20nose%22%5BClinical%20Features%5D%20OR%2066013%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326567"><div><strong>Thick lower lip vermilion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326567</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1839739</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326567">Feature record</a> | <a href="/medgen?term=%22Thick%20lower%20lip%20vermilion%22%5BClinical%20Features%5D%20OR%20326567%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_374311"><div><strong>Deep philtrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374311</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1839797</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374311">Feature record</a> | <a href="/medgen?term=%22Deep%20philtrum%22%5BClinical%20Features%5D%20OR%20374311%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326648"><div><strong>Anteverted nares</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326648</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1840077</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326648">Feature record</a> | <a href="/medgen?term=%22Anteverted%20nares%22%5BClinical%20Features%5D%20OR%20326648%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_351278"><div><strong>Long philtrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351278</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1865014</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/351278">Feature record</a> | <a href="/medgen?term=%22Long%20philtrum%22%5BClinical%20Features%5D%20OR%20351278%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66024"><div><strong>Thickened skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66024</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0241165</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Laminar thickening of skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66024">Feature record</a> | <a href="/medgen?term=%22Thickened%20skin%22%5BClinical%20Features%5D%20OR%2066024%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342955"><div><strong>Long eyelashes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342955</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1853738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342955">Feature record</a> | <a href="/medgen?term=%22Long%20eyelashes%22%5BClinical%20Features%5D%20OR%20342955%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anteverted nares</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bulbous nose</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_374311" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deep philtrum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_351278" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long philtrum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44435" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Narrow mouth</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116087" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Round face</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326567" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thick lower lip vermilion</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_477954" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fifth metacarpal with ulnar notch</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_376415" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short foot</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_323064" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short metacarpal</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334684" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short palm</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short phalanx of finger</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342955" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long eyelashes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66024" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thickened skin</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_351282" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cone-shaped epiphysis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108148" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed skeletal maturation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_344549" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ovoid vertebral bodies</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_344385" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short long bone</a></span></li></ul></li><li><span class="TLline">Abnormality of the voice</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5602" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hoarse voice</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3931" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe short stature</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0265287[DISCUI]&test_type=Clinical" ref="ncbi_uid=78549">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78549" target="_blank" href="/omim/102370">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78549" ref="ncbi_uid=78549">V</a></span></span><span class="TLline">Acromicric dysplasia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843369" ref="tree=MeSH" title="MedGen record for Acromelic dysplasia">Acromelic dysplasia</a></span><ul><li><span class="matched_ds">Acromicric dysplasia</span></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33908178">Sleep-disordered breathing and its management in children with rare skeletal dysplasias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen DB,
|
||
Khirani S,
|
||
Griffon L,
|
||
Baujat G,
|
||
Michot C,
|
||
Marzin P,
|
||
Rondeau S,
|
||
Luscan R,
|
||
Couloigner V,
|
||
Pejin Z,
|
||
Zerah M,
|
||
Cormier-Daire V,
|
||
Fauroux B</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 Jul;185(7):2108-2118.
|
||
Epub 2021 Apr 28
|
||
doi: 10.1002/ajmg.a.62236.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33908178" target="_blank">33908178</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33082559">Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marzin P,
|
||
Thierry B,
|
||
Dancasius A,
|
||
Cavau A,
|
||
Michot C,
|
||
Rondeau S,
|
||
Baujat G,
|
||
Phan G,
|
||
Bonnière M,
|
||
Le Bourgeois M,
|
||
Khraiche D,
|
||
Pejin Z,
|
||
Bonnet D,
|
||
Delacourt C,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2021 Feb;23(2):331-340.
|
||
Epub 2020 Oct 21
|
||
doi: 10.1038/s41436-020-00994-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33082559" target="_blank">33082559</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22acromicric%20dysplasia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33082559">Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marzin P,
|
||
Thierry B,
|
||
Dancasius A,
|
||
Cavau A,
|
||
Michot C,
|
||
Rondeau S,
|
||
Baujat G,
|
||
Phan G,
|
||
Bonnière M,
|
||
Le Bourgeois M,
|
||
Khraiche D,
|
||
Pejin Z,
|
||
Bonnet D,
|
||
Delacourt C,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2021 Feb;23(2):331-340.
|
||
Epub 2020 Oct 21
|
||
doi: 10.1038/s41436-020-00994-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33082559" target="_blank">33082559</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27068007">Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McInerney-Leo AM,
|
||
Le Goff C,
|
||
Leo PJ,
|
||
Kenna TJ,
|
||
Keith P,
|
||
Harris JE,
|
||
Steer R,
|
||
Bole-Feysot C,
|
||
Nitschke P,
|
||
Kielty C,
|
||
Brown MA,
|
||
Zankl A,
|
||
Duncan EL,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2016 Jul;53(7):457-64.
|
||
Epub 2016 Apr 11
|
||
doi: 10.1136/jmedgenet-2015-103647.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27068007" target="_blank">27068007</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24339047">Orthopedics management of acromicric dysplasia: follow up of nine patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klein C,
|
||
Le Goff C,
|
||
Topouchian V,
|
||
Odent S,
|
||
Violas P,
|
||
Glorion C,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2014 Feb;164A(2):331-7.
|
||
Epub 2013 Dec 11
|
||
doi: 10.1002/ajmg.a.36139.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24339047" target="_blank">24339047</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22791552">From tall to short: the role of TGFβ signaling in growth and its disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Le Goff C,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2012 Aug 15;160C(3):145-53.
|
||
Epub 2012 Jul 12
|
||
doi: 10.1002/ajmg.c.31337.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22791552" target="_blank">22791552</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21683322">Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Le Goff C,
|
||
Mahaut C,
|
||
Wang LW,
|
||
Allali S,
|
||
Abhyankar A,
|
||
Jensen S,
|
||
Zylberberg L,
|
||
Collod-Beroud G,
|
||
Bonnet D,
|
||
Alanay Y,
|
||
Brady AF,
|
||
Cordier MP,
|
||
Devriendt K,
|
||
Genevieve D,
|
||
Kiper PÖ,
|
||
Kitoh H,
|
||
Krakow D,
|
||
Lynch SA,
|
||
Le Merrer M,
|
||
Mégarbane A,
|
||
Mortier G,
|
||
Odent S,
|
||
Polak M,
|
||
Rohrbach M,
|
||
Sillence D,
|
||
Stolte-Dijkstra I,
|
||
Superti-Furga A,
|
||
Rimoin DL,
|
||
Topouchian V,
|
||
Unger S,
|
||
Zabel B,
|
||
Bole-Feysot C,
|
||
Nitschke P,
|
||
Handford P,
|
||
Casanova JL,
|
||
Boileau C,
|
||
Apte SS,
|
||
Munnich A,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2011 Jul 15;89(1):7-14.
|
||
Epub 2011 Jun 16
|
||
doi: 10.1016/j.ajhg.2011.05.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21683322" target="_blank">21683322</a><a href="/pmc/articles/PMC3135800" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acromicric%20dysplasia%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (14)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38458756">Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arnaud P,
|
||
Mougin Z,
|
||
Baujat G,
|
||
Drouin-Garraud V,
|
||
El Chehadeh S,
|
||
Gouya L,
|
||
Odent S,
|
||
Jondeau G,
|
||
Boileau C,
|
||
Hanna N,
|
||
Le Goff C</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2024 Apr 19;61(5):469-476.
|
||
doi: 10.1136/jmg-2023-109646.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38458756" target="_blank">38458756</a><a href="/pmc/articles/PMC11041597" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32406602">Acromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation in an 8-year-old boy with a missense FBN1 mutation: Case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang T,
|
||
Yang Y,
|
||
Dong Q,
|
||
Zhu H,
|
||
Liu Y</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2020 Jul;8(7):e1282.
|
||
Epub 2020 May 14
|
||
doi: 10.1002/mgg3.1282.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32406602" target="_blank">32406602</a><a href="/pmc/articles/PMC7336748" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27057656">Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mackenroth L,
|
||
Rump A,
|
||
Lorenz P,
|
||
Schröck E,
|
||
Tzschach A</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2016 Jul;25(3):106-9.
|
||
doi: 10.1097/MCD.0000000000000124.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27057656" target="_blank">27057656</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25244068">Children with short-limbed short stature in pediatric endocrinological services in Japan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hasegawa K,
|
||
Tanaka H</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2014 Dec;56(6):809-812.
|
||
Epub 2014 Nov 28
|
||
doi: 10.1111/ped.12511.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25244068" target="_blank">25244068</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2732993">Moore-Federman syndrome and acromicric dysplasia: are they the same entity?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Winter RM,
|
||
Patton MA,
|
||
Challener J,
|
||
Mueller RF,
|
||
Baraitser M</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1989 May;26(5):320-5.
|
||
doi: 10.1136/jmg.26.5.320.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2732993" target="_blank">2732993</a><a href="/pmc/articles/PMC1015599" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acromicric%20dysplasia%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (18)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28917829">A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li D,
|
||
Dong H,
|
||
Zheng H,
|
||
Song J,
|
||
Li X,
|
||
Jin Y,
|
||
Liu Y,
|
||
Yang Y</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2017 Dec;60(12):685-689.
|
||
Epub 2017 Sep 14
|
||
doi: 10.1016/j.ejmg.2017.09.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28917829" target="_blank">28917829</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23124041">A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee T,
|
||
Takeshima Y,
|
||
Okizuka Y,
|
||
Hamahira K,
|
||
Kusunoki N,
|
||
Awano H,
|
||
Yagi M,
|
||
Sakai N,
|
||
Matsuo M,
|
||
Iijima K</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2013 Jan 10;512(2):456-9.
|
||
Epub 2012 Nov 2
|
||
doi: 10.1016/j.gene.2012.10.060.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23124041" target="_blank">23124041</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acromicric%20dysplasia%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33082559">Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marzin P,
|
||
Thierry B,
|
||
Dancasius A,
|
||
Cavau A,
|
||
Michot C,
|
||
Rondeau S,
|
||
Baujat G,
|
||
Phan G,
|
||
Bonnière M,
|
||
Le Bourgeois M,
|
||
Khraiche D,
|
||
Pejin Z,
|
||
Bonnet D,
|
||
Delacourt C,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2021 Feb;23(2):331-340.
|
||
Epub 2020 Oct 21
|
||
doi: 10.1038/s41436-020-00994-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33082559" target="_blank">33082559</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32913123">O-Fucosylation of ADAMTSL2 is required for secretion and is impacted by geleophysic dysplasia-causing mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang A,
|
||
Berardinelli SJ,
|
||
Leonhard-Melief C,
|
||
Vasudevan D,
|
||
Liu TW,
|
||
Taibi A,
|
||
Giannone S,
|
||
Apte SS,
|
||
Holdener BC,
|
||
Haltiwanger RS</span><br />
|
||
<span class="medgenPMjournal">J Biol Chem</span>
|
||
2020 Nov 13;295(46):15742-15753.
|
||
Epub 2020 Sep 10
|
||
doi: 10.1074/jbc.RA120.014557.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32913123" target="_blank">32913123</a><a href="/pmc/articles/PMC7667967" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27935852">Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hasegawa K,
|
||
Numakura C,
|
||
Tanaka H,
|
||
Furujo M,
|
||
Kubo T,
|
||
Higuchi Y,
|
||
Yamashita M,
|
||
Tsukahara H</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2017 Jan 1;30(1):117-121.
|
||
doi: 10.1515/jpem-2016-0258.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27935852" target="_blank">27935852</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24339047">Orthopedics management of acromicric dysplasia: follow up of nine patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klein C,
|
||
Le Goff C,
|
||
Topouchian V,
|
||
Odent S,
|
||
Violas P,
|
||
Glorion C,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2014 Feb;164A(2):331-7.
|
||
Epub 2013 Dec 11
|
||
doi: 10.1002/ajmg.a.36139.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24339047" target="_blank">24339047</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11694546">Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Faivre L,
|
||
Le Merrer M,
|
||
Baumann C,
|
||
Polak M,
|
||
Chatelain P,
|
||
Sulmont V,
|
||
Cousin J,
|
||
Bost M,
|
||
Cordier MP,
|
||
Zackai E,
|
||
Russell K,
|
||
Finidori G,
|
||
Pouliquen JC,
|
||
Munnich A,
|
||
Maroteaux P,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2001 Nov;38(11):745-9.
|
||
doi: 10.1136/jmg.38.11.745.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11694546" target="_blank">11694546</a><a href="/pmc/articles/PMC1734753" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acromicric%20dysplasia%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (6)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38300707">ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Camarena V,
|
||
Williams MM,
|
||
Morales AA,
|
||
Zafeer MF,
|
||
Kilic OV,
|
||
Kamiar A,
|
||
Abad C,
|
||
Rasmussen MA,
|
||
Briski LM,
|
||
Peart L,
|
||
Bademci G,
|
||
Barbouth DS,
|
||
Smithson S,
|
||
Wang G,
|
||
Shehadeh LA,
|
||
Walz K,
|
||
Tekin M</span><br />
|
||
<span class="medgenPMjournal">JCI Insight</span>
|
||
2024 Feb 1;9(5)
|
||
doi: 10.1172/jci.insight.174417.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38300707" target="_blank">38300707</a><a href="/pmc/articles/PMC10972594" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25244068">Children with short-limbed short stature in pediatric endocrinological services in Japan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hasegawa K,
|
||
Tanaka H</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2014 Dec;56(6):809-812.
|
||
Epub 2014 Nov 28
|
||
doi: 10.1111/ped.12511.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25244068" target="_blank">25244068</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24339047">Orthopedics management of acromicric dysplasia: follow up of nine patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klein C,
|
||
Le Goff C,
|
||
Topouchian V,
|
||
Odent S,
|
||
Violas P,
|
||
Glorion C,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2014 Feb;164A(2):331-7.
|
||
Epub 2013 Dec 11
|
||
doi: 10.1002/ajmg.a.36139.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24339047" target="_blank">24339047</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22791552">From tall to short: the role of TGFβ signaling in growth and its disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Le Goff C,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2012 Aug 15;160C(3):145-53.
|
||
Epub 2012 Jul 12
|
||
doi: 10.1002/ajmg.c.31337.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22791552" target="_blank">22791552</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11694546">Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Faivre L,
|
||
Le Merrer M,
|
||
Baumann C,
|
||
Polak M,
|
||
Chatelain P,
|
||
Sulmont V,
|
||
Cousin J,
|
||
Bost M,
|
||
Cordier MP,
|
||
Zackai E,
|
||
Russell K,
|
||
Finidori G,
|
||
Pouliquen JC,
|
||
Munnich A,
|
||
Maroteaux P,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2001 Nov;38(11):745-9.
|
||
doi: 10.1136/jmg.38.11.745.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11694546" target="_blank">11694546</a><a href="/pmc/articles/PMC1734753" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acromicric%20dysplasia%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (9)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0265287%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (55)</a></li>
|
||
<li><a href="/gtr/tests?term=C0265287%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0265287%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0265287%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (58)</a></li>
|
||
<li><a href="/gtr/tests?term=C0265287%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (13)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0265287%5bDISCUI%5d" target="_blank">See all (68)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=102370" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=969" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Acromicric%20dysplasia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22acromicric%20dysplasia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=134797" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2200[geneid]" target="_blank">View FBN1 variations in ClinVar</a></li><li><a href="/nuccore/283837777" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=102370" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Acromicric+Dysplasia/167" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/acromicric_dysplasia" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Acromicric%20dysplasia" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/acromicric-dysplasia" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/7/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Acromicric%20dysplasia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Acromicric%20dysplasia%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=78549" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=78549" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0265287[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0265287[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
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