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<meta name="keywords" content="C1844554, absent fingernail, absent fingernails, anonychia of fingernails, aplasia of the fingernail, congenital abnormality, finding, 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="Absence of a fingernail." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Absent fingernail (Concept Id: C1844554)
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<!--
UID=336718
ConceptID=C1844554
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Absent fingernail</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336718</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)&#10;Click for more information.">C1844554</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Absent fingernails</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:0001817">HP:0001817</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">Absence of a fingernail. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</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 unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Absent fingernail</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/869100" ref="tree=MeSH" title="MedGen record for Abnormal skin adnexa morphology">Abnormal skin adnexa morphology</a></span><ul><li><span class="TLline"><a href="/medgen/163115" ref="tree=MeSH" title="MedGen record for Abnormal nail morphology">Abnormal nail morphology</a></span><ul><li><span class="TLline"><a href="/medgen/347794" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the nails">Aplasia/Hypoplasia of the nails</a></span><ul><li><span class="TLline"><a href="/medgen/120563" ref="tree=MeSH" title="MedGen record for Anonychia">Anonychia</a></span><ul><li><span class="matched_ds">Absent fingernail</span><ul><li><span class="TLline"><a href="/medgen/866571" ref="tree=MeSH" title="MedGen record for Absent fifth fingernail">Absent fifth fingernail</a></span></li><li><span class="TLline"><a href="/medgen/1814103" ref="tree=MeSH" title="MedGen record for Absent second fingernail">Absent second fingernail</a></span></li><li><span class="TLline"><a href="/medgen/868455" ref="tree=MeSH" title="MedGen record for Absent thumbnail">Absent thumbnail</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<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>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_42055"><div><strong>Focal dermal hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42055</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)&#10;Click for more information."><span class="highlight" style="background-color:">C0016395</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">PORCN-related developmental disorders include a spectrum of highly variable multisystem disorders caused by developmental abnormalities in mesodermal and ectodermal structures primarily involving the skin, limbs, eyes, and face. The manifestations vary among affected individuals, and many have only a subset of the characteristic features. Skin manifestations present at birth include atrophic and hypoplastic areas of skin; cutis aplasia; fat nodules in the dermis manifesting as soft, yellow-pink cutaneous nodules; and pigmentary changes. Verrucous papillomas of the skin and mucous membranes may appear later. The nails can be ridged, dysplastic, or hypoplastic; hair can be sparse or absent. Limb malformations include oligo- and syndactyly and split hand/foot. Developmental abnormalities of the eye can include anophthalmia/microphthalmia, iris and chorioretinal coloboma, and lacrimal duct abnormalities. Craniofacial findings can include facial asymmetry, notched alae nasi, cleft lip and palate, pointed chin, and small, underfolded pinnae. Dental anomalies can include hypodontia, enamel defects, and/or abnormally shaped teeth. Occasional findings include abdominal wall defects, diaphragmatic hernia, and renal anomalies. Psychomotor development is usually normal; some individuals have cognitive impairment and/or behavioral issues.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/42055">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341275"><div><strong>Ulna hypoplasia-intellectual disability syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341275</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)&#10;Click for more information.">C1848650</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341275">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341818"><div><strong>Yunis-Varon syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341818</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)&#10;Click for more information.">C1857663</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Yunis-Varon syndrome (YVS) is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341818">Condition Record</a></div></div>
<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)&#10;Click for more information.">C1864826</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<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>
<div class="spaceAbove nowrap">See: <a href="/medgen/400622">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_42055" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal dermal hypoplasia</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_341275" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ulna hypoplasia-intellectual disability syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341818" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Yunis-Varon syndrome</a></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/26394714">Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fleming L,
Lemmon M,
Beck N,
Johnson M,
Mu W,
Murdock D,
Bodurtha J,
Hoover-Fong J,
Cohn R,
Bosemani T,
Barañano K,
Hamosh A</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2016 Jan;170A(1):77-86.
Epub 2015 Sep 23
doi: 10.1002/ajmg.a.37369.
<span class="bold">PMID: </span><a href="/pubmed/26394714" target="_blank">26394714</a><a href="/pmc/articles/PMC4886552" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22980928">Treatment of proximal humeral fractures - a review of current concepts enlightened by basic principles.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Maier D,
Jäger M,
Strohm PC,
Südkamp NP</span><br />
<span class="medgenPMjournal">Acta Chir Orthop Traumatol Cech</span>
2012;79(4):307-16.
<span class="bold">PMID: </span><a href="/pubmed/22980928" target="_blank">22980928</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1201992">Prevention and treatment of non-union of slightly displaced fractures of the lateral humeral condyle in children. An end-result study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Flynn JC,
Richards JF Jr,
Saltzman RI</span><br />
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
1975 Dec;57(8):1087-92.
<span class="bold">PMID: </span><a href="/pubmed/1201992" target="_blank">1201992</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(absent%20fingernail)%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 (6)</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/34416026">Onychophagia: detailed clinical characteristics.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shin JO,
Roh D,
Son JH,
Shin K,
Kim HS,
Ko HC,
Kim BS,
Kim MB</span><br />
<span class="medgenPMjournal">Int J Dermatol</span>
2022 Mar;61(3):331-336.
Epub 2021 Aug 20
doi: 10.1111/ijd.15861.
<span class="bold">PMID: </span><a href="/pubmed/34416026" target="_blank">34416026</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27109743">Nail-patella syndrome: report of 11 pediatric cases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Figueroa-Silva O,
Vicente A,
Agudo A,
Baliu-Piqué C,
Gómez-Armayones S,
Aldunce-Soto MJ,
Inarejos Clemente EJ,
Navallas Irujo M,
Gutiérrez de la Iglesia D,
González-Enseñat MA</span><br />
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
2016 Sep;30(9):1614-7.
Epub 2016 Apr 25
doi: 10.1111/jdv.13683.
<span class="bold">PMID: </span><a href="/pubmed/27109743" target="_blank">27109743</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15468153">Ectodermal dysplasias.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Itin PH,
Fistarol SK</span><br />
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
2004 Nov 15;131C(1):45-51.
doi: 10.1002/ajmg.c.30033.
<span class="bold">PMID: </span><a href="/pubmed/15468153" target="_blank">15468153</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14706033">Zimmermann-Laband syndrome with bilateral developmental cataract - a new association?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shah N,
Gupta YK,
Ghose S</span><br />
<span class="medgenPMjournal">Int J Paediatr Dent</span>
2004 Jan;14(1):78-85.
doi: 10.1111/j.1365-263x.2004.00471.x.
<span class="bold">PMID: </span><a href="/pubmed/14706033" target="_blank">14706033</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2651010">Immunoregulation of dermatophytosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Calderon RA</span><br />
<span class="medgenPMjournal">Crit Rev Microbiol</span>
1989;16(5):339-68.
doi: 10.3109/10408418909104472.
<span class="bold">PMID: </span><a href="/pubmed/2651010" target="_blank">2651010</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absent%20fingernail%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 (57)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37435845">Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bönnemann CG,
Krishnamoorthy KS,
Johnston JJ,
Lee MM,
Fowler DJ,
Biesecker LG,
Holmes LB</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2023 Sep;191(9):2337-2343.
Epub 2023 Jul 12
doi: 10.1002/ajmg.a.63306.
<span class="bold">PMID: </span><a href="/pubmed/37435845" target="_blank">37435845</a><a href="/pmc/articles/PMC10524239" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30349098">The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">van der Sluijs PJ,
Jansen S,
Vergano SA,
Adachi-Fukuda M,
Alanay Y,
AlKindy A,
Baban A,
Bayat A,
Beck-Wödl S,
Berry K,
Bijlsma EK,
Bok LA,
Brouwer AFJ,
van der Burgt I,
Campeau PM,
Canham N,
Chrzanowska K,
Chu YWY,
Chung BHY,
Dahan K,
De Rademaeker M,
Destree A,
Dudding-Byth T,
Earl R,
Elcioglu N,
Elias ER,
Fagerberg C,
Gardham A,
Gener B,
Gerkes EH,
Grasshoff U,
van Haeringen A,
Heitink KR,
Herkert JC,
den Hollander NS,
Horn D,
Hunt D,
Kant SG,
Kato M,
Kayserili H,
Kersseboom R,
Kilic E,
Krajewska-Walasek M,
Lammers K,
Laulund LW,
Lederer D,
Lees M,
López-González V,
Maas S,
Mancini GMS,
Marcelis C,
Martinez F,
Maystadt I,
McGuire M,
McKee S,
Mehta S,
Metcalfe K,
Milunsky J,
Mizuno S,
Moeschler JB,
Netzer C,
Ockeloen CW,
Oehl-Jaschkowitz B,
Okamoto N,
Olminkhof SNM,
Orellana C,
Pasquier L,
Pottinger C,
Riehmer V,
Robertson SP,
Roifman M,
Rooryck C,
Ropers FG,
Rosello M,
Ruivenkamp CAL,
Sagiroglu MS,
Sallevelt SCEH,
Sanchis Calvo A,
Simsek-Kiper PO,
Soares G,
Solaeche L,
Sonmez FM,
Splitt M,
Steenbeek D,
Stegmann APA,
Stumpel CTRM,
Tanabe S,
Uctepe E,
Utine GE,
Veenstra-Knol HE,
Venkateswaran S,
Vilain C,
Vincent-Delorme C,
Vulto-van Silfhout AT,
Wheeler P,
Wilson GN,
Wilson LC,
Wollnik B,
Kosho T,
Wieczorek D,
Eichler E,
Pfundt R,
de Vries BBA,
Clayton-Smith J,
Santen GWE</span><br />
<span class="medgenPMjournal">Genet Med</span>
2019 Jun;21(6):1295-1307.
Epub 2018 Nov 8
doi: 10.1038/s41436-018-0330-z.
<span class="bold">PMID: </span><a href="/pubmed/30349098" target="_blank">30349098</a><a href="/pmc/articles/PMC6752273" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22329539">Cooks syndrome: a case report and brief review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brennan CB,
Buehler T,
Lesher JL Jr</span><br />
<span class="medgenPMjournal">Pediatr Dermatol</span>
2013 Jul-Aug;30(4):e52-3.
Epub 2012 Feb 13
doi: 10.1111/j.1525-1470.2011.01668.x.
<span class="bold">PMID: </span><a href="/pubmed/22329539" target="_blank">22329539</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22838235">Zimmermann-Laband syndrome: a case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sawaki K,
Mishima K,
Sato A,
Goda Y,
Osugi A,
Nakano M</span><br />
<span class="medgenPMjournal">J Clin Pediatr Dent</span>
2012 Spring;36(3):297-300.
doi: 10.17796/jcpd.36.3.k854128176u764l8.
<span class="bold">PMID: </span><a href="/pubmed/22838235" target="_blank">22838235</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18478364">Clinical forms of dermatophytosis (ringworm infection).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Degreef H</span><br />
<span class="medgenPMjournal">Mycopathologia</span>
2008 Nov-Dec;166(5-6):257-65.
Epub 2008 May 14
doi: 10.1007/s11046-008-9101-8.
<span class="bold">PMID: </span><a href="/pubmed/18478364" target="_blank">18478364</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absent%20fingernail%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 (72)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/37848187">Presence of 2-hydroxyethyl methacrylate (HEMA) and other (meth)acrylates in nail cosmetics, and compliance with EU legislation: An online market survey.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Steunebrink IM,
de Groot A,
Rustemeyer T</span><br />
<span class="medgenPMjournal">Contact Dermatitis</span>
2024 Jan;90(1):60-65.
Epub 2023 Oct 17
doi: 10.1111/cod.14441.
<span class="bold">PMID: </span><a href="/pubmed/37848187" target="_blank">37848187</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34416026">Onychophagia: detailed clinical characteristics.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shin JO,
Roh D,
Son JH,
Shin K,
Kim HS,
Ko HC,
Kim BS,
Kim MB</span><br />
<span class="medgenPMjournal">Int J Dermatol</span>
2022 Mar;61(3):331-336.
Epub 2021 Aug 20
doi: 10.1111/ijd.15861.
<span class="bold">PMID: </span><a href="/pubmed/34416026" target="_blank">34416026</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28719472">Contact Sensitization to Allergens in Nail Cosmetics.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chou M,
Dhingra N,
Strugar TL</span><br />
<span class="medgenPMjournal">Dermatitis</span>
2017 Jul/Aug;28(4):231-240.
doi: 10.1097/DER.0000000000000301.
<span class="bold">PMID: </span><a href="/pubmed/28719472" target="_blank">28719472</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17019458">Chronic paronychia--putting a finger on the evidence.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Montgomery BD</span><br />
<span class="medgenPMjournal">Aust Fam Physician</span>
2006 Oct;35(10):811, 813.
<span class="bold">PMID: </span><a href="/pubmed/17019458" target="_blank">17019458</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16961514">Generalized linear porokeratosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dervis E,
Demirkesen C</span><br />
<span class="medgenPMjournal">Int J Dermatol</span>
2006 Sep;45(9):1077-9.
doi: 10.1111/j.1365-4632.2004.02490.x.
<span class="bold">PMID: </span><a href="/pubmed/16961514" target="_blank">16961514</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absent%20fingernail%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 (26)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/30540672">Hypohidrotic Ectodermal Dysplasia: A Rare Disorder With Bilateral Infantile Glaucoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dubey S,
Bhoot M,
Jain K</span><br />
<span class="medgenPMjournal">J Glaucoma</span>
2019 Apr;28(4):e58-e60.
doi: 10.1097/IJG.0000000000001156.
<span class="bold">PMID: </span><a href="/pubmed/30540672" target="_blank">30540672</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27450397">Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Harita Y,
Kitanaka S,
Isojima T,
Ashida A,
Hattori M</span><br />
<span class="medgenPMjournal">Pediatr Nephrol</span>
2017 Oct;32(10):1845-1850.
Epub 2016 Jul 23
doi: 10.1007/s00467-016-3462-x.
<span class="bold">PMID: </span><a href="/pubmed/27450397" target="_blank">27450397</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17019458">Chronic paronychia--putting a finger on the evidence.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Montgomery BD</span><br />
<span class="medgenPMjournal">Aust Fam Physician</span>
2006 Oct;35(10):811, 813.
<span class="bold">PMID: </span><a href="/pubmed/17019458" target="_blank">17019458</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14760798">Nailfold capillary microscopy can suggest pulmonary disease activity in systemic sclerosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bredemeier M,
Xavier RM,
Capobianco KG,
Restelli VG,
Rohde LE,
Pinotti AF,
Pitrez EH,
Vieira MV,
Fontoura MA,
Ludwig DH,
Brenol JC</span><br />
<span class="medgenPMjournal">J Rheumatol</span>
2004 Feb;31(2):286-94.
<span class="bold">PMID: </span><a href="/pubmed/14760798" target="_blank">14760798</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14706033">Zimmermann-Laband syndrome with bilateral developmental cataract - a new association?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shah N,
Gupta YK,
Ghose S</span><br />
<span class="medgenPMjournal">Int J Paediatr Dent</span>
2004 Jan;14(1):78-85.
doi: 10.1111/j.1365-263x.2004.00471.x.
<span class="bold">PMID: </span><a href="/pubmed/14706033" target="_blank">14706033</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absent%20fingernail%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 (37)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/30540672">Hypohidrotic Ectodermal Dysplasia: A Rare Disorder With Bilateral Infantile Glaucoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dubey S,
Bhoot M,
Jain K</span><br />
<span class="medgenPMjournal">J Glaucoma</span>
2019 Apr;28(4):e58-e60.
doi: 10.1097/IJG.0000000000001156.
<span class="bold">PMID: </span><a href="/pubmed/30540672" target="_blank">30540672</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30349098">The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">van der Sluijs PJ,
Jansen S,
Vergano SA,
Adachi-Fukuda M,
Alanay Y,
AlKindy A,
Baban A,
Bayat A,
Beck-Wödl S,
Berry K,
Bijlsma EK,
Bok LA,
Brouwer AFJ,
van der Burgt I,
Campeau PM,
Canham N,
Chrzanowska K,
Chu YWY,
Chung BHY,
Dahan K,
De Rademaeker M,
Destree A,
Dudding-Byth T,
Earl R,
Elcioglu N,
Elias ER,
Fagerberg C,
Gardham A,
Gener B,
Gerkes EH,
Grasshoff U,
van Haeringen A,
Heitink KR,
Herkert JC,
den Hollander NS,
Horn D,
Hunt D,
Kant SG,
Kato M,
Kayserili H,
Kersseboom R,
Kilic E,
Krajewska-Walasek M,
Lammers K,
Laulund LW,
Lederer D,
Lees M,
López-González V,
Maas S,
Mancini GMS,
Marcelis C,
Martinez F,
Maystadt I,
McGuire M,
McKee S,
Mehta S,
Metcalfe K,
Milunsky J,
Mizuno S,
Moeschler JB,
Netzer C,
Ockeloen CW,
Oehl-Jaschkowitz B,
Okamoto N,
Olminkhof SNM,
Orellana C,
Pasquier L,
Pottinger C,
Riehmer V,
Robertson SP,
Roifman M,
Rooryck C,
Ropers FG,
Rosello M,
Ruivenkamp CAL,
Sagiroglu MS,
Sallevelt SCEH,
Sanchis Calvo A,
Simsek-Kiper PO,
Soares G,
Solaeche L,
Sonmez FM,
Splitt M,
Steenbeek D,
Stegmann APA,
Stumpel CTRM,
Tanabe S,
Uctepe E,
Utine GE,
Veenstra-Knol HE,
Venkateswaran S,
Vilain C,
Vincent-Delorme C,
Vulto-van Silfhout AT,
Wheeler P,
Wilson GN,
Wilson LC,
Wollnik B,
Kosho T,
Wieczorek D,
Eichler E,
Pfundt R,
de Vries BBA,
Clayton-Smith J,
Santen GWE</span><br />
<span class="medgenPMjournal">Genet Med</span>
2019 Jun;21(6):1295-1307.
Epub 2018 Nov 8
doi: 10.1038/s41436-018-0330-z.
<span class="bold">PMID: </span><a href="/pubmed/30349098" target="_blank">30349098</a><a href="/pmc/articles/PMC6752273" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17472679">Late-onset Rothmund-Thomson syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar P,
Sharma PK,
Gautam RK,
Jain RK,
Kar HK</span><br />
<span class="medgenPMjournal">Int J Dermatol</span>
2007 May;46(5):492-3.
doi: 10.1111/j.1365-4632.2007.03248.x.
<span class="bold">PMID: </span><a href="/pubmed/17472679" target="_blank">17472679</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16961514">Generalized linear porokeratosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dervis E,
Demirkesen C</span><br />
<span class="medgenPMjournal">Int J Dermatol</span>
2006 Sep;45(9):1077-9.
doi: 10.1111/j.1365-4632.2004.02490.x.
<span class="bold">PMID: </span><a href="/pubmed/16961514" target="_blank">16961514</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14760798">Nailfold capillary microscopy can suggest pulmonary disease activity in systemic sclerosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bredemeier M,
Xavier RM,
Capobianco KG,
Restelli VG,
Rohde LE,
Pinotti AF,
Pitrez EH,
Vieira MV,
Fontoura MA,
Ludwig DH,
Brenol JC</span><br />
<span class="medgenPMjournal">J Rheumatol</span>
2004 Feb;31(2):286-94.
<span class="bold">PMID: </span><a href="/pubmed/14760798" target="_blank">14760798</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absent%20fingernail%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 (53)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/26218152">Operative treatment of ingrown toenail by nail fold resection without matricectomy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">DeBrule MB</span><br />
<span class="medgenPMjournal">J Am Podiatr Med Assoc</span>
2015 Jul;105(4):295-301.
doi: 10.7547/13-121.1.
<span class="bold">PMID: </span><a href="/pubmed/26218152" target="_blank">26218152</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absent%20fingernail%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>
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