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<meta name="keywords" content="C0282160, absence of part of skin at birth, acc, acc - aplasia cutis congenita, aplasia cutis, aplasia cutis congenita, aplasia cutis congenita (disease), aplasia cutis congenita nonsyndromic, aplasia cutis congenita recessive, aplasia cutis congenita, nonsyndromic, aplasia of skin, bms1, congenital abnormality, congenital absence of skin, congenital defect of skull and scalp, congenital scars, cutis aplasia, epitheliogenesis imperfecta, scalp defect congenital, scalp defect, congenital, 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="Aplasia cutis congenita (ACC) is defined as congenital localized absence of skin. The skin appears as a thin, transparent membrane through which the underlying structures are visible. The location is usually on the scalp (Evers et al., 1995). Approximately 20 to 30% of cases have underlying osseous involvement (Elliott and Teebi, 1997). Autosomal dominant inheritance is most common, but recessive inheritance has also been reported. Cutaneous aplasia of the scalp vertex also occurs in Johanson-Blizzard syndrome (243800) and Adams-Oliver syndrome (AOS; 100300). A defect in the scalp is sometimes found in cases of trisomy 13 and in about 15% of cases of deletion of the short arm of chromosome 4, the Wolf-Hirschhorn syndrome (WHS; 194190) (Hirschhorn et al., 1965; Fryns et al., 1973). Evers et al. (1995) provided a list of disorders associated with aplasia cutis congenita, classified according to etiology. They also tabulated points of particular significance in history taking and examination of patients with ACC." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=79390
|
||
ConceptID=C0282160
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Aplasia cutis congenita<span class="h1sub">(ACC)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>79390</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:">C0282160</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>ACC; Aplasia cutis congenita (disease); Aplasia cutis congenita nonsyndromic; CONGENITAL DEFECT OF SKULL AND SCALP; Scalp defect congenital</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Congenital absence of skin (35484002); ACC - Aplasia cutis congenita (35484002); Aplasia of skin (254237003); Aplasia cutis congenita (35484002); Epitheliogenesis imperfecta (35484002); Cutis aplasia (35484002)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<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>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</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="BMS1 - ID: 9790 - NCBI Gene" href="/gene/9790" class="medgenPMinfo">BMS1</a> (10q11.21)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001057">HP:0001057</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007145" target="_blank">MONDO:0007145</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/107600" target="_blank">107600</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=1114">ORPHA1114</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Aplasia cutis congenita (ACC) is defined as congenital localized absence of skin. The skin appears as a thin, transparent membrane through which the underlying structures are visible. The location is usually on the scalp (Evers et al., 1995). Approximately 20 to 30% of cases have underlying osseous involvement (Elliott and Teebi, 1997). Autosomal dominant inheritance is most common, but recessive inheritance has also been reported. Cutaneous aplasia of the scalp vertex also occurs in Johanson-Blizzard syndrome (243800) and Adams-Oliver syndrome (AOS; 100300). A defect in the scalp is sometimes found in cases of trisomy 13 and in about 15% of cases of deletion of the short arm of chromosome 4, the Wolf-Hirschhorn syndrome (WHS; 194190) (Hirschhorn et al., 1965; Fryns et al., 1973). Evers et al. (1995) provided a list of disorders associated with aplasia cutis congenita, classified according to etiology. They also tabulated points of particular significance in history taking and examination of patients with ACC. [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">
|
||
<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 />Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin (lesions). These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex), although they can be found on the torso or limbs. In some cases, the bone and other tissues under the skin defect are also underdeveloped.<br /><br />Most affected babies have a single lesion. The lesions vary in size and can be differently shaped: some are round or oval, others rectangular, and still others star-shaped. They usually leave a scar after they heal. When the scalp is involved, there may be an absence of hair growth (alopecia) in the affected area.<br /><br />When the underlying bone and other tissues are involved, affected individuals are at higher risk of infections. If these severe defects occur on the head, the membrane that covers the brain (the dura mater) may be exposed, and life-threatening bleeding may occur from nearby vessels.<br /><br />Skin lesions are typically the only feature of nonsyndromic aplasia cutis congenita, although other skin problems and abnormalities of the bones and other tissues occur rarely. However, the characteristic skin lesions can occur as one of many symptoms in other conditions, including Johanson-Blizzard syndrome and Adams-Oliver syndrome. These instances are described as syndromic aplasia cutis congenita. <a target="_blank" href="https://medlineplus.gov/genetics/condition/nonsyndromic-aplasia-cutis-congenita">https://medlineplus.gov/genetics/condition/nonsyndromic-aplasia-cutis-congenita</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 />
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<div class="divPopper rprt" id="clin_370826"><div><strong>Aplasia cutis congenita over the scalp vertex</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370826</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.">C1970112</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/370826">Feature record</a> | <a href="/medgen?term=%22Aplasia%20cutis%20congenita%20over%20the%20scalp%20vertex%22%5BClinical%20Features%5D%20OR%20370826%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_370826" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aplasia cutis congenita over the scalp vertex</a></span></li></ul></li></ul></div></div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</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=C0282160[DISCUI]&test_type=Clinical" ref="ncbi_uid=79390">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0282160[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=79390">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=79390" target="_blank" href="/omim/107600">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=79390" ref="ncbi_uid=79390">V</a></span></span><span class="TLline">Aplasia cutis congenita</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871273" ref="tree=MeSH" title="MedGen record for Abnormality of the integument">Abnormality of the integument</a></span><ul><li><span class="TLline"><a href="/medgen/1845238" ref="tree=MeSH" title="MedGen record for Abnormality of the skin">Abnormality of the skin</a></span><ul><li><span class="TLline"><a href="/medgen/869110" ref="tree=MeSH" title="MedGen record for Abnormal skin morphology">Abnormal skin morphology</a></span><ul><li><span class="TLline"><a href="/medgen/208858" ref="tree=MeSH" title="MedGen record for Localized skin lesion">Localized skin lesion</a></span><ul><li><span class="TLline"><a href="/medgen/870295" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the skin">Aplasia/Hypoplasia of the skin</a></span><ul><li><span class="matched_ds">Aplasia cutis congenita</span><ul><li><span class="TLline"><a href="/medgen/343411" ref="tree=MeSH" title="MedGen record for Aplasia cutis congenita of scalp">Aplasia cutis congenita of scalp</a></span><ul><li><span class="TLline"><a href="/medgen/350194" ref="tree=MeSH" title="MedGen record for Aplasia cutis congenita over parietal area">Aplasia cutis congenita over parietal area</a></span><ul><li><span class="TLline"><a href="/medgen/350902" ref="tree=MeSH" title="MedGen record for Aplasia cutis congenita over posterior parietal area">Aplasia cutis congenita over posterior parietal area</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/370826" ref="tree=MeSH" title="MedGen record for Aplasia cutis congenita over the scalp vertex">Aplasia cutis congenita over the scalp vertex</a></span><ul><li><span class="TLline"><a href="/medgen/870404" ref="tree=MeSH" title="MedGen record for Aplasia cutis congenita of midline scalp vertex">Aplasia cutis congenita of midline scalp vertex</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/400308" ref="tree=MeSH" title="MedGen record for Aplasia cutis congenita on trunk or limbs">Aplasia cutis congenita on trunk or limbs</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=3198&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Aplasia cutis congenita</span> in Orphanet.</div></div></div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_91261"><div><strong>Branchiooculofacial syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91261</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.">C0376524</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Branchiooculofacial syndrome (BOFS) is characterized by branchial (cervical or infra- or supra-auricular) skin defects that range from barely perceptible thin skin or hair patch to erythematous "hemangiomatous" lesions to large weeping erosions; ocular anomalies that can include microphthalmia, anophthalmia, coloboma, cataract, and nasolacrimal duct stenosis/atresia; and facial anomalies that can include dolichocephaly, hypertelorism or telecanthus, broad nasal tip, upslanted palpebral fissures, cleft lip or prominent philtral pillars that give the appearance of a repaired cleft lip (formerly called "pseudocleft lip") with or without cleft palate, upper lip pits, and lower facial weakness (asymmetric crying face or partial weakness of cranial nerve VII). Malformed and prominent pinnae and hearing loss from inner ear and/or petrous bone anomalies are common. Intellect is usually normal.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/91261">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_324970"><div><strong>Recessive aplasia cutis congenita of limbs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324970</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.">C1838206</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/324970">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_333068"><div><strong>Toriello-Lacassie-Droste syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333068</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.">C1838329</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Oculoectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals exhibit congenital scalp lesions which are atrophic, nonscarring, hairless regions that are often multiple and asymmetric in distribution, and may have associated hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and, rarely, epidermal nevus-like lesions. Epibulbar dermoids may be uni- or bilateral. Additional ocular anomalies such as skin tags of the upper eyelid and rarely optic nerve or retinal changes or microphthalmia can be present. Phenotypic expression is highly variable, and various other abnormalities have occasionally been reported, including growth failure, lymphedema, and cardiovascular defects, as well as neurodevelopmental symptoms such as developmental delay, epilepsy, learning difficulties, and behavioral abnormalities. Benign tumor-like lesions such as nonossifying fibromas of the long bones and giant cell granulomas of the jaws have repeatedly been observed and appear to be age-dependent, becoming a common manifestation in individuals aged 5 years or older (summary by Boppudi et al., 2016).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/333068">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_400622"><div><strong>Lethal acantholytic epidermolysis bullosa</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400622</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.">C1864826</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Lethal acantholytic epidermolysis bullosa (EBLA) is an autosomal recessive skin disorder characterized by extensive epidermal dislodgment, universal alopecia, and anonychia. Cardiac involvement may be present. Death occurs in the neonatal period (summary by Hobbs et al., 2010).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/400622">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_357183"><div><strong>Scalp-ear-nipple syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357183</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.">C1867020</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Scalp-ear-nipple syndrome is characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families (Marneros et al., 2013).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/357183">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_436922"><div><strong>Epidermolysis bullosa simplex 5C, with pyloric atresia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436922</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.">C2677349</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Epidermolysis bullosa with pyloric atresia (EB-PA) is characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma; congenital pyloric atresia; renal and/or ureteral anomalies; and protein-losing enteropathy. The course of EB-PA is usually severe and most often lethal in the neonatal period. Those who survive may have severe blistering with formation of granulation tissue on the skin around the mouth, nose, diaper area, fingers, and toes, and internally around the trachea. However, some affected individuals have little or no blistering later in life. Additional features shared by EB-PA and the other major forms of epidermolysis bullosa (EB) include congenital localized absence of skin (aplasia cutis congenita) affecting the extremities and/or head, milia, nail dystrophy, scarring alopecia, hypotrichosis, and corneal abnormalities.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/436922">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_481812"><div><strong>Adams-Oliver syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481812</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.">C3280182</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Adams-Oliver syndrome-2 (AOS2) is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011). For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (100300).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/481812">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_763835"><div><strong>Linear skin defects with multiple congenital anomalies 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>763835</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.">C3550921</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Microphthalmia with linear skin defects (MLS) syndrome is characterized by unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects, usually involving the face and neck, which are present at birth and heal with age, leaving minimal residual scarring. Other findings can include a wide variety of other ocular abnormalities (e.g., corneal anomalies, orbital cysts, cataracts), central nervous system involvement (e.g., structural anomalies, developmental delay, infantile seizures), cardiac concerns (e.g., hypertrophic or oncocytic cardiomyopathy, atrial or ventricular septal defects, arrhythmias), short stature, diaphragmatic hernia, nail dystrophy, hearing impairment, and genitourinary malformations. Inter- and intrafamilial variability is described.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/763835">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_766662"><div><strong>Adams-Oliver syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766662</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.">C3553748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Hassed et al. (2012) described an autosomal dominant form of Adams-Oliver syndrome involving characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other associated defects, or immune defects. For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (100300).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/766662">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_815422"><div><strong>Adams-Oliver syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815422</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.">C3809092</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Adams-Oliver syndrome (AOS) is a rare congenital disorder characterized by aplasia cutis congenita and terminal transverse limb defects. Additional abnormalities may be present in other organs, e.g., heart, brain, and/or eyes (summary by Shaheen et al., 2013). For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (100300).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/815422">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_863407"><div><strong>Adams-Oliver syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863407</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.">C4014970</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014). For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (100300).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/863407">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_904613"><div><strong>Even-plus syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>904613</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.">C4225180</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">EVEN-plus syndrome (EVPLS) is characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. The features overlap those reported in patients with CODAS syndrome (600373; Royer-Bertrand et al., 2015).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/904613">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_895979"><div><strong>Intellectual disability, X-linked, syndromic 33</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895979</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.">C4225418</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">X-linked syndromic intellectual developmental disorder-33 (MRXS33) is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/895979">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1854940"><div><strong>Intellectual developmental disorder, x-linked, syndromic 37</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854940</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.">C5935567</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">X-linked syndromic intellectual developmental disorder-37 (MRXS37) is a developmental disorder showing phenotypic variability and variable severity. Male mutation carriers tend to be more severely affected than female mutation carriers, some of whom may even be asymptomatic. In general, the disorder is characterized by global developmental delay with delayed walking, speech delay, impaired intellectual development that ranges from borderline low to moderate, and behavioral abnormalities, such as autism and sleeping difficulties. Many patients are able to attend mainstream schools with assistance and work under supervision. Additional more variable features include sensorineural hearing loss, ocular anomalies, feeding difficulties, dysmorphic facial features, inguinal and umbilical hernia, genitourinary defects, congenital heart defects, musculoskeletal anomalies, and endocrine dysfunction, such as hypogonadism or hyperparathyroidism (Shepherdson et al., 2024).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1854940">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481812" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adams-Oliver syndrome 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766662" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adams-Oliver syndrome 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815422" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adams-Oliver syndrome 4</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863407" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adams-Oliver syndrome 5</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_91261" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Branchiooculofacial syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (14)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436922" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epidermolysis bullosa simplex 5C, with pyloric atresia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_904613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Even-plus syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder, x-linked, syndromic 37</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_895979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, X-linked, syndromic 33</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400622" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethal acantholytic epidermolysis bullosa</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_763835" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Linear skin defects with multiple congenital anomalies 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324970" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recessive aplasia cutis congenita of limbs</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357183" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scalp-ear-nipple syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333068" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Toriello-Lacassie-Droste syndrome</a></div></span></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/16924505">Aplasia cutis congenita of the scalp: is there a better treatment strategy?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gan YC,
|
||
Steinbok P</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2006 Oct;22(10):1216-7; author reply 1218-9.
|
||
Epub 2006 Aug 19
|
||
doi: 10.1007/s00381-006-0224-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16924505" target="_blank">16924505</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15191833">Letter to the Editor: Management of aplasia cutis congenita in a non-scalp location.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simman R</span><br />
|
||
<span class="medgenPMjournal">Br J Plast Surg</span>
|
||
2004 Jul;57(5):469-70; author reply 470-2.
|
||
doi: 10.1016/j.bjps.2004.02.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15191833" target="_blank">15191833</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9179253">Conservative management of aplasia cutis congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yilmaz S,
|
||
Apaydin I,
|
||
Yenidünya O,
|
||
Adanali G,
|
||
Gültan S</span><br />
|
||
<span class="medgenPMjournal">Dermatol Surg</span>
|
||
1997 May;23(5):402-3.
|
||
doi: 10.1111/j.1524-4725.1997.tb00074.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9179253" target="_blank">9179253</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22aplasia%20cutis%20congenita%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 (10)</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/32969353">Aplasia cutis congenita with dystrophic epidermolysis bullosa: Bart syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu XG,
|
||
Zhang C,
|
||
Qin J,
|
||
Gao XH,
|
||
Zhang L</span><br />
|
||
<span class="medgenPMjournal">Indian J Dermatol Venereol Leprol</span>
|
||
2022 Mar-Apr;88(2):210-211.
|
||
doi: 10.4103/ijdvl.IJDVL_1094_19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32969353" target="_blank">32969353</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32738035">Teratogen update: Antithyroid medications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Romeo AN,
|
||
Običan SG</span><br />
|
||
<span class="medgenPMjournal">Birth Defects Res</span>
|
||
2020 Sep;112(15):1150-1170.
|
||
Epub 2020 Aug 1
|
||
doi: 10.1002/bdr2.1771.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32738035" target="_blank">32738035</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26212801">Aplasia Cutis Congenita Associated with Fetus Papyraceus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pieretti ML,
|
||
Alcalá R,
|
||
Boggio P,
|
||
Noguera-Morel L,
|
||
Porriño ML,
|
||
Luna PC,
|
||
Hernández-Martín A,
|
||
Schroh R,
|
||
Larralde M,
|
||
Torrelo A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2015 Nov-Dec;32(6):858-61.
|
||
Epub 2015 Jul 27
|
||
doi: 10.1111/pde.12651.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26212801" target="_blank">26212801</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15060207">Skin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mancini AJ</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2004 Apr;113(4 Suppl):1114-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15060207" target="_blank">15060207</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6996008">Aplasia cutis congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Irons GB,
|
||
Olson RM</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
1980 Aug;66(2):199-203.
|
||
doi: 10.1097/00006534-198008000-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6996008" target="_blank">6996008</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20cutis%20congenita%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 (101)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36100287">Aplasia cutis congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Higgins C,
|
||
Price A,
|
||
Craig S</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2022 Sep 13;15(9)
|
||
doi: 10.1136/bcr-2022-251533.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36100287" target="_blank">36100287</a><a href="/pmc/articles/PMC9472161" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35181938">Trichorhinophalangeal syndrome type II associated with aplasia cutis congenita in a neonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tripodi GD,
|
||
Dickerman DI,
|
||
LeMosy EK,
|
||
Davis LS</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2022 May;39(3):481-482.
|
||
Epub 2022 Feb 18
|
||
doi: 10.1111/pde.14934.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35181938" target="_blank">35181938</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33904163">Aplasia Cutis Congenita: A Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ugowe OJ,
|
||
Balogun SA,
|
||
Adejuyigbe EA</span><br />
|
||
<span class="medgenPMjournal">West Afr J Med</span>
|
||
2021 Apr 23;38(4):391-394.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33904163" target="_blank">33904163</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25919737">Aplasia cutis congenita with "vanishing twin".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Valerio E,
|
||
Fantinato M,
|
||
Giovannini I,
|
||
Cutrone M</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2015 May;166(5):1316-1316.e1.
|
||
doi: 10.1016/j.jpeds.2015.02.037.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25919737" target="_blank">25919737</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6692238">Aplasia cutis congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martin J,
|
||
Ross JB</span><br />
|
||
<span class="medgenPMjournal">Can Med Assoc J</span>
|
||
1984 Feb 15;130(4):421-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6692238" target="_blank">6692238</a><a href="/pmc/articles/PMC1876084" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20cutis%20congenita%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 (196)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32738035">Teratogen update: Antithyroid medications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Romeo AN,
|
||
Običan SG</span><br />
|
||
<span class="medgenPMjournal">Birth Defects Res</span>
|
||
2020 Sep;112(15):1150-1170.
|
||
Epub 2020 Aug 1
|
||
doi: 10.1002/bdr2.1771.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32738035" target="_blank">32738035</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29353258">Aplasia cutis congenita and 'vanishing twin' caused by iatrogenic fetal reduction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bassi A,
|
||
Coviello C,
|
||
Martino M,
|
||
Cutrone M,
|
||
Dani C</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child Fetal Neonatal Ed</span>
|
||
2018 May;103(3):F270.
|
||
Epub 2018 Jan 20
|
||
doi: 10.1136/archdischild-2017-314630.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29353258" target="_blank">29353258</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28319675">Aplasia cutis congenita with foetus papyraceus: Case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uzuner C,
|
||
Seeho SKM,
|
||
Smith CJ</span><br />
|
||
<span class="medgenPMjournal">J Obstet Gynaecol</span>
|
||
2017 Aug;37(6):811-812.
|
||
Epub 2017 Mar 20
|
||
doi: 10.1080/01443615.2017.1286305.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28319675" target="_blank">28319675</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25919737">Aplasia cutis congenita with "vanishing twin".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Valerio E,
|
||
Fantinato M,
|
||
Giovannini I,
|
||
Cutrone M</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2015 May;166(5):1316-1316.e1.
|
||
doi: 10.1016/j.jpeds.2015.02.037.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25919737" target="_blank">25919737</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15060207">Skin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mancini AJ</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2004 Apr;113(4 Suppl):1114-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15060207" target="_blank">15060207</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20cutis%20congenita%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 (58)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32969353">Aplasia cutis congenita with dystrophic epidermolysis bullosa: Bart syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu XG,
|
||
Zhang C,
|
||
Qin J,
|
||
Gao XH,
|
||
Zhang L</span><br />
|
||
<span class="medgenPMjournal">Indian J Dermatol Venereol Leprol</span>
|
||
2022 Mar-Apr;88(2):210-211.
|
||
doi: 10.4103/ijdvl.IJDVL_1094_19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32969353" target="_blank">32969353</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31023179">Aplasia cutis congenita: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arslanca SB,
|
||
Arslanca T,
|
||
Koç A</span><br />
|
||
<span class="medgenPMjournal">J Obstet Gynaecol</span>
|
||
2019 Aug;39(6):860-861.
|
||
Epub 2019 Apr 25
|
||
doi: 10.1080/01443615.2019.1581753.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31023179" target="_blank">31023179</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26212801">Aplasia Cutis Congenita Associated with Fetus Papyraceus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pieretti ML,
|
||
Alcalá R,
|
||
Boggio P,
|
||
Noguera-Morel L,
|
||
Porriño ML,
|
||
Luna PC,
|
||
Hernández-Martín A,
|
||
Schroh R,
|
||
Larralde M,
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Torrelo A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2015 Nov-Dec;32(6):858-61.
|
||
Epub 2015 Jul 27
|
||
doi: 10.1111/pde.12651.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26212801" target="_blank">26212801</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1951437">Adams-Oliver syndrome revisited.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whitley CB,
|
||
Gorlin RJ</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1991 Sep 1;40(3):319-26.
|
||
doi: 10.1002/ajmg.1320400315.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1951437" target="_blank">1951437</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6996008">Aplasia cutis congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Irons GB,
|
||
Olson RM</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
1980 Aug;66(2):199-203.
|
||
doi: 10.1097/00006534-198008000-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6996008" target="_blank">6996008</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20cutis%20congenita%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 (68)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36300660">Epidemiology of aplasia cutis congenita: A population-based study in Europe.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coi A,
|
||
Barisic I,
|
||
Garne E,
|
||
Pierini A,
|
||
Addor MC,
|
||
Aizpurua Atxega A,
|
||
Ballardini E,
|
||
Braz P,
|
||
Broughan JM,
|
||
Cavero-Carbonell C,
|
||
de Walle HEK,
|
||
Draper ES,
|
||
Gatt M,
|
||
Häusler M,
|
||
Kinsner-Ovaskainen A,
|
||
Kurinczuk JJ,
|
||
Lelong N,
|
||
Luyt K,
|
||
Mezzasalma L,
|
||
Mullaney C,
|
||
Nelen V,
|
||
Odak L,
|
||
O'Mahony MT,
|
||
Perthus I,
|
||
Randrianaivo H,
|
||
Rankin J,
|
||
Rissmann A,
|
||
Rouget F,
|
||
Schaub B,
|
||
Tucker D,
|
||
Wellesley D,
|
||
Wiśniewska K,
|
||
Yevtushok L,
|
||
Santoro M</span><br />
|
||
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
|
||
2023 Mar;37(3):581-589.
|
||
Epub 2022 Nov 11
|
||
doi: 10.1111/jdv.18690.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36300660" target="_blank">36300660</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34895016">Choroidal calcifications in two cases of aplasia cutis congenita and oculoectodermal syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kalavar M,
|
||
Echegaray JJ,
|
||
Ashkenazy N,
|
||
McKeown C,
|
||
Berrocal AM</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2022 Apr;43(2):258-261.
|
||
Epub 2021 Dec 13
|
||
doi: 10.1080/13816810.2021.1998552.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34895016" target="_blank">34895016</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32070410">Recognizable neonatal clinical features of aplasia cutis congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schierz IAM,
|
||
Giuffrè M,
|
||
Del Vecchio A,
|
||
Antona V,
|
||
Corsello G,
|
||
Piro E</span><br />
|
||
<span class="medgenPMjournal">Ital J Pediatr</span>
|
||
2020 Feb 18;46(1):25.
|
||
doi: 10.1186/s13052-020-0789-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32070410" target="_blank">32070410</a><a href="/pmc/articles/PMC7029587" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19610107">The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Snape KM,
|
||
Ruddy D,
|
||
Zenker M,
|
||
Wuyts W,
|
||
Whiteford M,
|
||
Johnson D,
|
||
Lam W,
|
||
Trembath RC</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2009 Aug;149A(8):1860-81.
|
||
doi: 10.1002/ajmg.a.32708.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19610107" target="_blank">19610107</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6996008">Aplasia cutis congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Irons GB,
|
||
Olson RM</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
1980 Aug;66(2):199-203.
|
||
doi: 10.1097/00006534-198008000-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6996008" target="_blank">6996008</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20cutis%20congenita%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 (40)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/23231846">The safety of methimazole and propylthiouracil in pregnancy: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hackmon R,
|
||
Blichowski M,
|
||
Koren G</span><br />
|
||
<span class="medgenPMjournal">J Obstet Gynaecol Can</span>
|
||
2012 Nov;34(11):1077-1086.
|
||
doi: 10.1016/S1701-2163(16)35438-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23231846" target="_blank">23231846</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20cutis%20congenita%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</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">
|
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<div class="portlet mgSection" id="ID_113">
|
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<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>
|
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</div>
|
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|
||
<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=C0282160%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C0282160%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0282160%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (10)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0282160%5bDISCUI%5d" target="_blank">See all (11)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<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>
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<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=107600" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1114" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Aplasia%20cutis%20congenita" 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>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22aplasia%20cutis%20congenita%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Aplasia%20cutis%20congenita%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
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<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>
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||
<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=611448" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=9790[geneid]" target="_blank">View BMS1 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=107600" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
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<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/Aplasia+Cutis+Congenita/549" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/aplasia_cutis_congenita_nonsyndromic" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Aplasia%20cutis%20congenita" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/nonsyndromic-aplasia-cutis-congenita" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/5835/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>
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</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Aplasia%20cutis%20congenita" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Aplasia%20cutis%20congenita%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>
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||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=79390" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=79390" ref="log$=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=C0282160[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0282160[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0282160[DISCUI]&test_type=Research" ref="log$=recordlinks">GTR(Research)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Research tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=79390" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=79390" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
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<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
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<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
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