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<meta name="keywords" content="C0853087, abnormal nail, abnormal nail morphology, abnormal nails, abnormalities, nail, abnormality of the nail, abnormality, nail, anatomical abnormality, nail abnormalities, nail abnormality, nail disease, nail, abnormal, nails, abnormal, 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="Abnormal structure or appearance of the nail." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Abnormal nail morphology (Concept Id: C0853087)
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<!--
UID=163115
ConceptID=C0853087
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal nail morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163115</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:">C0853087</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Abnormality of the nail</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:0001597">HP:0001597</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">Abnormal structure or appearance of the nail. [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><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=C0853087[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=163115">C</a></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 Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=163115" ref="ncbi_uid=163115">V</a></span></span><span class="TLline">Abnormal nail morphology</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="matched_ds">Abnormal nail morphology</span><ul><li><span class="TLline"><a href="/medgen/867411" ref="tree=MeSH" title="MedGen record for Abnormal fingernail morphology">Abnormal fingernail morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1800811" ref="tree=MeSH" title="MedGen record for Volar fingernail">Volar fingernail</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1054580" ref="tree=MeSH" title="MedGen record for Abnormal nail attachment">Abnormal nail attachment</a></span><ul><li><span class="TLline"><a href="/medgen/590415" ref="tree=MeSH" title="MedGen record for Nail pterygium">Nail pterygium</a></span></li><li><span class="TLline"><a href="/medgen/39324" ref="tree=MeSH" title="MedGen record for Onycholysis">Onycholysis</a></span><ul><li><span class="TLline"><a href="/medgen/765958" ref="tree=MeSH" title="MedGen record for Onycholysis of fingernails">Onycholysis of fingernails</a></span></li><li><span class="TLline"><a href="/medgen/120483" ref="tree=MeSH" title="MedGen record for Onychomadesis">Onychomadesis</a></span></li><li><span class="TLline"><a href="/medgen/867184" ref="tree=MeSH" title="MedGen record for Recurrent loss of toenails and fingernails">Recurrent loss of toenails and fingernails</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/853391" ref="tree=MeSH" title="MedGen record for Abnormal nail growth">Abnormal nail growth</a></span><ul><li><span class="TLline"><a href="/medgen/903256" ref="tree=MeSH" title="MedGen record for Fast-growing nails">Fast-growing nails</a></span></li><li><span class="TLline"><a href="/medgen/331935" ref="tree=MeSH" title="MedGen record for Slow-growing nails">Slow-growing nails</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1052475" ref="tree=MeSH" title="MedGen record for Abnormal nail shape">Abnormal nail shape</a></span><ul><li><span class="TLline"><a href="/medgen/904532" ref="tree=MeSH" title="MedGen record for Beaked nails">Beaked nails</a></span></li><li><span class="TLline"><a href="/medgen/901635" ref="tree=MeSH" title="MedGen record for Ragged cuticle">Ragged cuticle</a></span></li><li><span class="TLline"><a href="/medgen/909076" ref="tree=MeSH" title="MedGen record for Ski jump nail">Ski jump nail</a></span></li><li><span class="TLline"><a href="/medgen/1864010" ref="tree=MeSH" title="MedGen record for Triangular nail">Triangular nail</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1053059" ref="tree=MeSH" title="MedGen record for Abnormal nail surface">Abnormal nail surface</a></span><ul><li><span class="TLline"><a href="/medgen/537949" ref="tree=MeSH" title="MedGen record for Beau lines">Beau lines</a></span></li><li><span class="TLline"><a href="/medgen/57463" ref="tree=MeSH" title="MedGen record for Nail pits">Nail pits</a></span></li><li><span class="TLline"><a href="/medgen/140853" ref="tree=MeSH" title="MedGen record for Ridged nail">Ridged nail</a></span><ul><li><span class="TLline"><a href="/medgen/340311" ref="tree=MeSH" title="MedGen record for Ridged fingernail">Ridged fingernail</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/869789" ref="tree=MeSH" title="MedGen record for Abnormal subungual morphology">Abnormal subungual morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1056031" ref="tree=MeSH" title="MedGen record for Nail elevation">Nail elevation</a></span></li><li><span class="TLline"><a href="/medgen/21379" ref="tree=MeSH" title="MedGen record for Subungual hyperkeratosis">Subungual hyperkeratosis</a></span></li><li><span class="TLline"><a href="/medgen/342207" ref="tree=MeSH" title="MedGen record for Subungual hyperkeratotic fragments">Subungual hyperkeratotic fragments</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/825598" ref="tree=MeSH" title="MedGen record for Abnormal toenail morphology">Abnormal toenail morphology</a></span><ul><li><span class="TLline"><a href="/medgen/347294" ref="tree=MeSH" title="MedGen record for Aplastic/hypoplastic toenail">Aplastic/hypoplastic toenail</a></span><ul><li><span class="TLline"><a href="/medgen/336719" ref="tree=MeSH" title="MedGen record for Absent toenail">Absent toenail</a></span></li><li><span class="TLline"><a href="/medgen/332409" ref="tree=MeSH" title="MedGen record for Hypoplastic toenails">Hypoplastic toenails</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870246" ref="tree=MeSH" title="MedGen record for Congenital curved nail of fourth toe">Congenital curved nail of fourth toe</a></span></li><li><span class="TLline"><a href="/medgen/1616108" ref="tree=MeSH" title="MedGen record for Malalignment of the great toenail">Malalignment of the great toenail</a></span></li><li><span class="TLline"><a href="/medgen/767027" ref="tree=MeSH" title="MedGen record for Thin toenail">Thin toenail</a></span></li><li><span class="TLline"><a href="/medgen/478253" ref="tree=MeSH" title="MedGen record for Toenail dysplasia">Toenail dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/868085" ref="tree=MeSH" title="MedGen record for Toenail onycholysis">Toenail onycholysis</a></span></li><li><span class="TLline"><a href="/medgen/331939" ref="tree=MeSH" title="MedGen record for Upslanting toenail">Upslanting toenail</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/866614" ref="tree=MeSH" title="MedGen record for Abnormality of nail color">Abnormality of nail color</a></span><ul><li><span class="TLline"><a href="/medgen/68698" ref="tree=MeSH" title="MedGen record for Leukonychia">Leukonychia</a></span></li><li><span class="TLline"><a href="/medgen/451078" ref="tree=MeSH" title="MedGen record for Melanonychia">Melanonychia</a></span></li><li><span class="TLline"><a href="/medgen/369197" ref="tree=MeSH" title="MedGen record for Yellow nails">Yellow nails</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/902954" ref="tree=MeSH" title="MedGen record for Absent lunula">Absent lunula</a></span></li><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="TLline"><a href="/medgen/336718" ref="tree=MeSH" title="MedGen record for Absent fingernail">Absent fingernail</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/140850" ref="tree=MeSH" title="MedGen record for Short nail">Short nail</a></span></li><li><span class="TLline"><a href="/medgen/537942" ref="tree=MeSH" title="MedGen record for Small nail">Small nail</a></span><ul><li><span class="TLline"><a href="/medgen/347304" ref="tree=MeSH" title="MedGen record for Hypoplastic fingernail">Hypoplastic fingernail</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/870245" ref="tree=MeSH" title="MedGen record for Chronic monilial nail infection">Chronic monilial nail infection</a></span></li><li><span class="TLline"><a href="/medgen/1863842" ref="tree=MeSH" title="MedGen record for Enlarged lunula">Enlarged lunula</a></span></li><li><span class="TLline"><a href="/medgen/341661" ref="tree=MeSH" title="MedGen record for Fragile nails">Fragile nails</a></span></li><li><span class="TLline"><a href="/medgen/44991" ref="tree=MeSH" title="MedGen record for Ingrown nail">Ingrown nail</a></span></li><li><span class="TLline"><a href="/medgen/1820014" ref="tree=MeSH" title="MedGen record for Longitudinal erythronychia">Longitudinal erythronychia</a></span></li><li><span class="TLline"><a href="/medgen/830602" ref="tree=MeSH" title="MedGen record for Nail bed hemorrhage">Nail bed hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/373904" ref="tree=MeSH" title="MedGen record for Nail bed telangiectasia">Nail bed telangiectasia</a></span></li><li><span class="TLline"><a href="/medgen/331737" ref="tree=MeSH" title="MedGen record for Nail dysplasia">Nail dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/488914" ref="tree=MeSH" title="MedGen record for Bifid nail">Bifid nail</a></span></li><li><span class="TLline"><a href="/medgen/375097" ref="tree=MeSH" title="MedGen record for Broad nail">Broad nail</a></span></li><li><span class="TLline"><a href="/medgen/66369" ref="tree=MeSH" title="MedGen record for Concave nail">Concave nail</a></span></li><li><span class="TLline"><a href="/medgen/853249" ref="tree=MeSH" title="MedGen record for Congenital onychodystrophy">Congenital onychodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/479383" ref="tree=MeSH" title="MedGen record for Deep-set nails">Deep-set nails</a></span></li><li><span class="TLline"><a href="/medgen/866606" ref="tree=MeSH" title="MedGen record for Fingernail dysplasia">Fingernail dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/869002" ref="tree=MeSH" title="MedGen record for Fused nails">Fused nails</a></span></li><li><span class="TLline"><a href="/medgen/488894" ref="tree=MeSH" title="MedGen record for Hyperconvex nail">Hyperconvex nail</a></span><ul><li><span class="TLline"><a href="/medgen/337095" ref="tree=MeSH" title="MedGen record for Hyperconvex fingernails">Hyperconvex fingernails</a></span></li><li><span class="TLline"><a href="/medgen/383650" ref="tree=MeSH" title="MedGen record for Hyperconvex thumb nails">Hyperconvex thumb nails</a></span></li><li><span class="TLline"><a href="/medgen/868269" ref="tree=MeSH" title="MedGen record for Hyperconvex toenail">Hyperconvex toenail</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867452" ref="tree=MeSH" title="MedGen record for Narrow nail">Narrow nail</a></span></li><li><span class="TLline"><a href="/medgen/340108" ref="tree=MeSH" title="MedGen record for Platonychia">Platonychia</a></span></li><li><span class="TLline"><a href="/medgen/120482" ref="tree=MeSH" title="MedGen record for Split nail">Split nail</a></span></li><li><span class="TLline"><a href="/medgen/107484" ref="tree=MeSH" title="MedGen record for Trachyonychia">Trachyonychia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66368" ref="tree=MeSH" title="MedGen record for Nail dystrophy">Nail dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/537944" ref="tree=MeSH" title="MedGen record for Central nail canal">Central nail canal</a></span></li><li><span class="TLline"><a href="/medgen/764340" ref="tree=MeSH" title="MedGen record for Dystrophic fingernails">Dystrophic fingernails</a></span></li><li><span class="TLline"><a href="/medgen/318813" ref="tree=MeSH" title="MedGen record for Dystrophic toenail">Dystrophic toenail</a></span></li><li><span class="TLline"><a href="/medgen/66378" ref="tree=MeSH" title="MedGen record for Nail discoloration">Nail discoloration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/590308" ref="tree=MeSH" title="MedGen record for Nail psoriasis">Nail psoriasis</a></span></li><li><span class="TLline"><a href="/medgen/863168" ref="tree=MeSH" title="MedGen record for Nailfold capillary tortuosity">Nailfold capillary tortuosity</a></span></li><li><span class="TLline"><a href="/medgen/82671" ref="tree=MeSH" title="MedGen record for Onychogryphosis">Onychogryphosis</a></span><ul><li><span class="TLline"><a href="/medgen/78098" ref="tree=MeSH" title="MedGen record for Onychauxis">Onychauxis</a></span></li><li><span class="TLline"><a href="/medgen/868086" ref="tree=MeSH" title="MedGen record for Onychogryphosis of fingernail">Onychogryphosis of fingernail</a></span></li><li><span class="TLline"><a href="/medgen/870241" ref="tree=MeSH" title="MedGen record for Onychogryphosis of toenails">Onychogryphosis of toenails</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1055805" ref="tree=MeSH" title="MedGen record for Onychoheterotopia">Onychoheterotopia</a></span></li><li><span class="TLline"><a href="/medgen/869783" ref="tree=MeSH" title="MedGen record for Pyramidal skinfold extending from the base to the top of the nails">Pyramidal skinfold extending from the base to the top of the nails</a></span></li><li><span class="TLline"><a href="/medgen/569010" ref="tree=MeSH" title="MedGen record for Splinter hemorrhages">Splinter hemorrhages</a></span></li><li><span class="TLline"><a href="/medgen/98073" ref="tree=MeSH" title="MedGen record for Thin nail">Thin nail</a></span><ul><li><span class="TLline"><a href="/medgen/868356" ref="tree=MeSH" title="MedGen record for Thin fingernail">Thin fingernail</a></span></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&amp;data_id=156&amp;PatId=11394&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Abnormal nail morphology</span> in Orphanet.</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_9822"><div><strong>Chilblain lupus 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9822</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.">C0024145</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Chilblain lupus is a cutaneous form of systemic lupus erythematosus (SLE; 152700) characterized by the appearance of painful bluish-red papular or nodular lesions of the skin in acral locations (including the dorsal aspects of fingers and toes, heels, nose, cheeks, ears, and, in some cases, knees) precipitated by cold and wet exposure (summary by Lee-Kirsch et al., 2006).&#13; Genetic Heterogeneity of Chilblain Lupus&#13; See also CHBL2 (614415), caused by mutation in the SAMHD1 gene (606754) on chromosome 20q11.&#13; Mutations in the TREX1 and SAMHD1 genes also cause Aicardi-Goutieres syndrome (AGS1, 225750 and AGS5, 612952, respectively).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9822">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_11443"><div><strong>Sjögren-Larsson syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11443</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.">C0037231</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Sjogren-Larsson syndrome (SLS) is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, impaired intellectual development, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/11443">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_59798"><div><strong>Johanson-Blizzard syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>59798</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.">C0175692</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Johanson-Blizzard syndrome (JBS) is an autosomal recessive disorder characterized by poor growth, impaired intellectual development, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. Other features include hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency (summary by Al-Dosari et al., 2008).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/59798">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_113098"><div><strong>Adactylia, unilateral</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113098</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.">C0220660</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/113098">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_66357"><div><strong>Oromandibular-limb hypogenesis spectrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66357</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.">C0221060</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The most basic description of Moebius syndrome is a congenital facial palsy with impairment of ocular abduction. The facial nerve (cranial nerve VII) and abducens nerve (CN VI) are most frequently involved, but other cranial nerves may be involved as well. Other variable features include orofacial dysmorphism and limb malformations. Mental retardation has been reported in a subset of patients. Most cases of Moebius syndrome are sporadic, but familial occurrence has been reported (Verzijl et al., 2003).&#13; The definition of and diagnostic criteria for Moebius syndrome have been controversial and problematic. The syndrome has most frequently been confused with hereditary congenital facial paresis (HCFP; see 601471), which is restricted to involvement of the facial nerve and no other abnormalities. Verzijl et al. (2003) and Verzijl et al. (2005) concluded that HCFP and Moebius syndrome are distinct disorders, and that Moebius syndrome is a complex developmental disorder of the brainstem.&#13; Moebius syndrome was defined at the Moebius Syndrome Foundation Research Conference in 2007 as congenital, nonprogressive facial weakness with limited abduction of one or both eyes. Additional features can include hearing loss and other cranial nerve dysfunction, as well as motor, orofacial, musculoskeletal, neurodevelopmental, and social problems (summary by Webb et al., 2012).&#13; Kumar (1990) provided a review of Moebius syndrome, which was critiqued by Lipson et al. (1990). Briegel (2006) provided a review of Moebius sequence with special emphasis on neuropsychiatric findings.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66357">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_167089"><div><strong>Bullous dystrophy, macular type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167089</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.">C0795974</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hereditary bullous dystrophy of the macular type (HBDM) is a rare X-linked recessive disorder characterized by the formation of bullae without evident trauma, hyper- and hypopigmentation, absence of hair at birth, and, in some cases, microcephaly, mildly impaired intellectual development, short conic fingers, and aberrations of nails (summary by Wijker et al., 1995).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/167089">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_208672"><div><strong>Spondylometaphyseal dysplasia, Golden type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208672</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.">C0796172</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare primary bone dysplasia disorder with characteristics of severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/208672">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_316921"><div><strong>Congenital hypotrichosis with juvenile macular dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>316921</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.">C1832162</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Congenital hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal recessive disorder characterized by hair loss followed by progressive macular degeneration and early blindness. Scalp hair is lost during the first months of life, with onset of retinal degeneration and vision loss a few years to 2 decades later (summary by Sprecher et al., 2001 and Indelman et al., 2002).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/316921">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_371331"><div><strong>Ectodermal dysplasia with natal teeth, Turnpenny type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371331</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.">C1832444</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare disorder with manifestation of hypo or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients are born with multiple teeth. Hair anomalies (sparse body and scalp hair) also reported. Inheritance is autosomal dominant.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/371331">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_372099"><div><strong>Punctate palmoplantar keratoderma type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>372099</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.">C1835662</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A very rare hereditary skin disease with manifestation of irregularly distributed epidermal hyperkeratosis of the palms and soles. Reported in 35 families worldwide to date. The lesions usually start to develop in early adolescence but can also present later in life. Mutations in the AAGAB gene (15q22.33-q23) have recently been identified as one of the causes. Mutations in the COL14A1 gene (8q23) have also been identified as causal in some cases in Asia that seem to have a similar phenotype</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/372099">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_332073"><div><strong>Autosomal recessive congenital ichthyosis 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332073</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.">C1835851</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010).&#13; NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).&#13; In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005).&#13; For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/332073">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_322969"><div><strong>Hypotrichosis 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322969</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.">C1836672</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fragile and easily broken. Affected individuals often cannot grow hair longer than a few inches. The eyebrows, eyelashes, and other body hair may be sparse as well. Over time, the hair problems can remain stable or progress to complete scalp hair loss (alopecia) and a decrease in body hair.\n\nRarely, people with autosomal recessive hypotrichosis have skin problems affecting areas with sparse hair, such as redness (erythema), itchiness (pruritus), or missing patches of skin (erosions) on the scalp. In areas of poor hair growth, they may also develop bumps called hyperkeratotic follicular papules that develop around hair follicles, which are specialized structures in the skin where hair growth occurs.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/322969">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_333474"><div><strong>Coxopodopatellar syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333474</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.">C1840061</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Ischiocoxopodopatellar syndrome (ICPPS) is a rare autosomal dominant disorder characterized by a/hypoplasia of the patellas and various anomalies of the pelvis and feet. Pelvic anomalies include bilateral absent or delayed ossification of the ischiopubic junction and infraacetabular axe cut notches. Other major signs are a wide gap between the first and second toes, short fourth and fifth rays of the feet, and pes planus (summary by Bongers et al., 2001). Pediatric-onset pulmonary arterial hypertension may be seen in association with ICPPS (Kerstjens-Frederikse et al., 2013 and Levy et al., 2016).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/333474">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_374435"><div><strong>Hypotrichosis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374435</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.">C1840299</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hypotrichosis simplex can affect all body hair or be limited to the scalp. Usually patients with the scalp-limited form of hypotrichosis present with normal hair at birth; they experience a progressive, gradual loss of scalp hair beginning at the middle of the first decade and leading to almost complete loss of scalp hair by the third decade. A few sparse, fine, short hairs remain in some individuals. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Light and electron microscopy of hairs from early hypotrichosis simplex revealed no structural changes, whereas hairs from patients with advanced hypotrichosis showed focal areas of defective cuticular structure. Men and women are equally affected (summary by Betz et al., 2000).&#13; For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see 605389.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/374435">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_375070"><div><strong>Hypotrichosis-lymphedema-telangiectasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375070</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.">C1843004</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hypotrichosis-lymphedema-telangiectasia syndrome is an autosomal recessive disorder characterized by these 3 features, which begin at birth or in early childhood and are progressive (summary by Irrthum et al., 2003).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/375070">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_334410"><div><strong>Annular epidermolytic ichthyosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334410</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.">C1843463</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare clinical variant of epidermolytic ichthyosis, with manifestations of blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. It has been reported in less than 10 families. The disease is caused by mutations in the KRT1 (12q11-q13) and KRT10 (17q21-q23) genes, encoding keratins 1 and 10 respectively. These mutations impair keratin filament formation and weaken the structural stability of the keratinocyte cytoskeleton. Transmission is autosomal dominant.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/334410">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_376704"><div><strong>Otoonychoperoneal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376704</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.">C1850105</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of dysplastic external ears, nail hypoplasia, and variable skeletal malformations, such as hypoplastic or absent fibulae, abnormalities of the scapula, clavicle, and acromioclavicular joint, and talipes equinovarus, among others. Joint contractures and mild facial dysmorphism have also been reported.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/376704">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_343725"><div><strong>Keratosis palmoplantaris striata 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343725</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.">C1852127</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">PPKS2 is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor. Hyperkeratosis of the soles primarily involves pressure points, and diffuse background palmoplantar thickening may also be present. (Armstrong et al., 1999; Whittock et al., 1999).&#13; For a discussion of genetic heterogeneity of the striate form of palmoplantar keratoderma, see PPKS1 (148700).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/343725">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_342862"><div><strong>Acral peeling skin syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342862</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.">C1853354</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/342862">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_344437"><div><strong>Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344437</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.">C1855175</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/344437">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_348254"><div><strong>Toe, rotated fifth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348254</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.">C1861060</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/348254">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_356586"><div><strong>Steatocystoma multiplex-natal teeth syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356586</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.">C1866650</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/356586">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_440568"><div><strong>Hypotrichosis 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>440568</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.">C2748535</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hypotrichosis-5 (HYPT5), also known as Marie Unna hereditary hypotrichosis-2 (MUHH2), is a form of hereditary hypotrichosis characterized by twisting hair. Affected individuals have little or no scalp hair at birth, wiry and irregular scalp hair in childhood, and sparse or no forehead and parietal hair at puberty. Eyebrows and eyelashes are thin, and pubic and axillary hair fails to develop. Scarring alopecia is modest, and vertex hair is normal (summary by Zhang et al., 2012).&#13; For a general phenotypic description of Marie Unna hereditary hypotrichosis, see MUHH1 (146550).&#13; For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see 605389.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/440568">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_418996"><div><strong>Keratosis palmoplantaris striata 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>418996</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.">C2931123</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Keratosis palmoplantaris striata III (PPKS3) is a rare autosomal dominant skin disorder characterized clinically by early childhood onset of linear and focal hyperkeratosis of the palms and more diffuse changes on the soles (Whittock et al., 2002).&#13; For a discussion of genetic heterogeneity of the striate form of palmoplantar keratoderma, see PPKS1 (148700).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/418996">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462782"><div><strong>Hypotrichosis 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462782</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.">C3151432</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hypotrichosis simplex can affect all body hair (generalized; see 605389) or be limited to the scalp. Usually patients with the scalp-limited form of hypotrichosis present with normal hair at birth; they experience a progressive, gradual loss of scalp hair beginning at the middle of the first decade and leading to almost complete loss of scalp hair by the third decade. A few sparse, fine, short hairs remain in some individuals. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Light and electron microscopy of hairs from patients with early hypotrichosis simplex revealed no structural changes, whereas hairs from patients with advanced hypotrichosis showed focal areas of defective cuticular structure. Men and women are equally affected (summary by Betz et al., 2000).&#13; For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 (605389).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462782">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_481882"><div><strong>Hypotrichosis 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481882</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.">C3280252</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/481882">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_481883"><div><strong>Hypotrichosis 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481883</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.">C3280253</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/481883">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_815219"><div><strong>Polydactyly, postaxial, type A6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815219</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.">C3808889</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/815219">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_816111"><div><strong>Hypopigmentation-punctate palmoplantar keratoderma syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816111</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.">C3809781</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cole disease (COLED) is a rare autosomal dominant disorder characterized by congenital or early-onset punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over the arms and legs but not the trunk or acral regions. Skin biopsies of palmoplantar lesions show nonspecific changes including hyperorthokeratosis, hypergranulosis, and acanthosis. Hypopigmented areas of skin, however, reveal a reduction in melanin content in keratinocytes but not in melanocytes, as well as hyperkeratosis and a normal number of melanocytes. Ultrastructurally, melanocytes show a disproportionately large number of melanosomes in the cytoplasm and dendrites, whereas keratinocytes show a paucity of these organelles, suggestive of impaired melanosome transfer (summary by Eytan et al., 2013). Some patients also exhibit calcinosis cutis or early-onset calcific tendinopathy (Eytan et al., 2013).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/816111">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_863000"><div><strong>Hypotrichosis 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863000</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.">C4014563</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/863000">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1644234"><div><strong>Hypotrichosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644234</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.">C4551976</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hereditary hypotrichosis simplex (HHS) is a rare form of nonsyndromic hereditary hypotrichosis without characteristic hair shaft anomalies. Affected individuals typically show normal hair at birth, but hair loss and thinning of the hair shaft start during early childhood and progress with age. HHS can be largely divided into 2 forms: the scalp-limited form (e.g., 146520) and the generalized form, such as HYPT1, in which all body hair is affected. HHS is characterized by progressive hair follicle miniaturization, which is a typical feature of androgenetic alopecia (see 109200). HHS can be inherited either as an autosomal dominant or autosomal recessive trait (e.g., HYPT8, 278150) (summary by Shimomura et al., 2010).&#13; Genetic Heterogeneity of Nonsyndromic Hypotrichosis&#13; See also HYPT2 (146520), caused by mutation in the CDSN gene (602593) on chromosome 6p21; HYPT3 (613981), caused by mutation in the KRT74 gene (608248) on chromosome 12q13; HYPT4 (146550), caused by mutation in the HRURF gene (619257) on chromosome 8p21; HYPT5 (612841), caused by mutation in the EPS8L3 gene (614989) on chromosome 1p13; HYPT6 (607903), caused by mutation in the DSG4 gene (607892) on chromosome 18q12; HYPT7 (604379), caused by mutation in the LIPH gene (607365) on chromosome 3q27; HYPT8 (278150), caused by mutation in the LPAR6 gene (609239) on chromosome 13q14; HYPT9 (614237), mapped to chromosome 10q11.23-q22.3; HYPT10 (614238), mapped to chromosome 7p22.3-p21.3; HYPT11 (615059), caused by mutation in the SNRPE gene (128260) on chromosome 1q32; HYPT12 (615885), caused by mutation in the RPL21 gene (603636) on chromosome 13q12; HYPT13 (615896), caused by mutation in the KRT71 gene (608245) on chromosome 12q13; HYPT14 (618275), caused by mutation in the LSS gene (600909) on chromosome 21q22; and HYPT15 (620177), caused by mutation in the C3ORF52 gene (611956) on chromosome 3q13.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1644234">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1807897"><div><strong>Epidermolysis bullosa, junctional 3B, severe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1807897</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.">C5676939</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Severe junctional epidermolysis bullosa 3B (JEB3B) is an autosomal recessive skin blistering disorder characterized by extreme fragility of the skin and epithelia of various extracutaneous tissues. Skin blisters and erosions are present at birth. The plane of skin cleavage is through the lamina lucida of the cutaneous basement membrane zone. Patients die in infancy to early adulthood (summary by Has et al., 2020).&#13; For a discussion of genetic heterogeneity of the subtypes of JEB, see JEB1A (226650).&#13; Reviews&#13; Has et al. (2020) reviewed the clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors, and natural history of epidermolysis bullosa.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1807897">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342862" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acral peeling skin syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_113098" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adactylia, unilateral</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334410" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Annular epidermolytic ichthyosis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332073" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive congenital ichthyosis 11</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_167089" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bullous dystrophy, macular type</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (32)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_9822" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chilblain lupus 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_316921" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital hypotrichosis with juvenile macular dystrophy</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333474" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coxopodopatellar syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371331" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectodermal dysplasia with natal teeth, Turnpenny type</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1807897" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epidermolysis bullosa, junctional 3B, severe</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816111" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypopigmentation-punctate palmoplantar keratoderma syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1644234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotrichosis 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481883" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotrichosis 10</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863000" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotrichosis 12</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374435" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotrichosis 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462782" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotrichosis 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_440568" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotrichosis 5</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotrichosis 7</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481882" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotrichosis 9</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375070" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotrichosis-lymphedema-telangiectasia syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_59798" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Johanson-Blizzard syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343725" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Keratosis palmoplantaris striata 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_418996" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Keratosis palmoplantaris striata 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344437" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_66357" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oromandibular-limb hypogenesis spectrum</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Otoonychoperoneal syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815219" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polydactyly, postaxial, type A6</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_372099" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Punctate palmoplantar keratoderma type 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_11443" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sjögren-Larsson syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_208672" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylometaphyseal dysplasia, Golden type</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Steatocystoma multiplex-natal teeth syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348254" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Toe, rotated fifth</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/32592473">Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Prasasya R,
Grotheer KV,
Siracusa LD,
Bartolomei MS</span><br />
<span class="medgenPMjournal">Hum Mol Genet</span>
2020 Sep 30;29(R1):R107-R116.
doi: 10.1093/hmg/ddaa133.
<span class="bold">PMID: </span><a href="/pubmed/32592473" target="_blank">32592473</a><a href="/pmc/articles/PMC8325017" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28969652">Transient yellow discoloration of the nails for differential diagnosis with yellow nail syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chiriac A,
Naznean A,
Podoleanu C,
Stolnicu S</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2017 Oct 2;12(1):159.
doi: 10.1186/s13023-017-0711-4.
<span class="bold">PMID: </span><a href="/pubmed/28969652" target="_blank">28969652</a><a href="/pmc/articles/PMC5625644" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4825398">The differential diagnosis of the cleft hand and cleft foot malformations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">David TJ</span><br />
<span class="medgenPMjournal">Hand</span>
1974 Feb;6(1):58-61.
doi: 10.1016/0072-968x(74)90010-2.
<span class="bold">PMID: </span><a href="/pubmed/4825398" target="_blank">4825398</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20nail%20morphology)%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 (13)</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/36485133">Dyskeratosis congenita and telomere biology disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Savage SA</span><br />
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
2022 Dec 9;2022(1):637-648.
doi: 10.1182/hematology.2022000394.
<span class="bold">PMID: </span><a href="/pubmed/36485133" target="_blank">36485133</a><a href="/pmc/articles/PMC9821046" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32560786">"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hamilton MJ,
Suri M</span><br />
<span class="medgenPMjournal">Adv Genet</span>
2020;105:137-174.
Epub 2020 May 26
doi: 10.1016/bs.adgen.2020.03.002.
<span class="bold">PMID: </span><a href="/pubmed/32560786" target="_blank">32560786</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26227781">Fifty shades of yellow: a review of the xanthodermatoses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Frew JW,
Murrell DF,
Haber RM</span><br />
<span class="medgenPMjournal">Int J Dermatol</span>
2015 Oct;54(10):1109-23.
Epub 2015 Jul 30
doi: 10.1111/ijd.12945.
<span class="bold">PMID: </span><a href="/pubmed/26227781" target="_blank">26227781</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23219768">The role of nail-videocapillaroscopy in early diagnosis of scleroderma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rossi D,
Russo A,
Manna E,
Binello G,
Baldovino S,
Sciascia S,
Roccatello D</span><br />
<span class="medgenPMjournal">Autoimmun Rev</span>
2013 Jun;12(8):821-5.
Epub 2012 Dec 4
doi: 10.1016/j.autrev.2012.11.006.
<span class="bold">PMID: </span><a href="/pubmed/23219768" target="_blank">23219768</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1468459">Craniofrontonasal dysplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kapusta L,
Brunner HG,
Hamel BC</span><br />
<span class="medgenPMjournal">Eur J Pediatr</span>
1992 Nov;151(11):837-41.
doi: 10.1007/BF01957936.
<span class="bold">PMID: </span><a href="/pubmed/1468459" target="_blank">1468459</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20nail%20morphology%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 (174)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38959483">Yellow Nail Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kournoutas I,
Tung EE</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2024 Jul 4;391(1):68.
doi: 10.1056/NEJMicm2401377.
<span class="bold">PMID: </span><a href="/pubmed/38959483" target="_blank">38959483</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15450905">Nail dystrophies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bodman MA</span><br />
<span class="medgenPMjournal">Clin Podiatr Med Surg</span>
2004 Oct;21(4):663-87, viii.
doi: 10.1016/j.cpm.2004.05.005.
<span class="bold">PMID: </span><a href="/pubmed/15450905" target="_blank">15450905</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8647987">The lunula.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen PR</span><br />
<span class="medgenPMjournal">J Am Acad Dermatol</span>
1996 Jun;34(6):943-53; quiz 954-6.
doi: 10.1016/s0190-9622(96)90269-8.
<span class="bold">PMID: </span><a href="/pubmed/8647987" target="_blank">8647987</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7600507">Miscellaneous nail presentations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bodman MA</span><br />
<span class="medgenPMjournal">Clin Podiatr Med Surg</span>
1995 Apr;12(2):327-46.
<span class="bold">PMID: </span><a href="/pubmed/7600507" target="_blank">7600507</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3050097">Triphalangeal thumb.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Qazi Q,
Kassner EG</span><br />
<span class="medgenPMjournal">J Med Genet</span>
1988 Aug;25(8):505-20.
doi: 10.1136/jmg.25.8.505.
<span class="bold">PMID: </span><a href="/pubmed/3050097" target="_blank">3050097</a><a href="/pmc/articles/PMC1080027" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20nail%20morphology%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 (385)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/33453126">Kawasaki disease for the paediatric dermatologist: skin manifestations and new insights into the pathophysiology.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Piram M,
Burns JC</span><br />
<span class="medgenPMjournal">Clin Exp Dermatol</span>
2021 Apr;46(3):503-509.
doi: 10.1111/ced.14558.
<span class="bold">PMID: </span><a href="/pubmed/33453126" target="_blank">33453126</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31880638">Hypopigmented Macules With Onychodystrophy: Answer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Henehan M,
Nozile W,
Longo MI,
Walker A,
Motaparthi K</span><br />
<span class="medgenPMjournal">Am J Dermatopathol</span>
2020 Jan;42(1):66-67.
doi: 10.1097/DAD.0000000000001308.
<span class="bold">PMID: </span><a href="/pubmed/31880638" target="_blank">31880638</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21510012">Yellow nail syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Al Hawsawi K,
Pope E</span><br />
<span class="medgenPMjournal">Pediatr Dermatol</span>
2010 Nov-Dec;27(6):675-6.
doi: 10.1111/j.1525-1470.2010.01338.x.
<span class="bold">PMID: </span><a href="/pubmed/21510012" target="_blank">21510012</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10954990">Pachyonychia congenita tarda.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hannaford RS,
Stapleton K</span><br />
<span class="medgenPMjournal">Australas J Dermatol</span>
2000 Aug;41(3):175-7.
doi: 10.1046/j.1440-0960.2000.00425.x.
<span class="bold">PMID: </span><a href="/pubmed/10954990" target="_blank">10954990</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4581554">Psoriatic arthritis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moll JM,
Wright V</span><br />
<span class="medgenPMjournal">Semin Arthritis Rheum</span>
1973;3(1):55-78.
doi: 10.1016/0049-0172(73)90035-8.
<span class="bold">PMID: </span><a href="/pubmed/4581554" target="_blank">4581554</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20nail%20morphology%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 (98)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/27469932">Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Whittington A,
Stein S,
Kenner-Bell B</span><br />
<span class="medgenPMjournal">Pediatr Dermatol</span>
2016 Sep;33(5):e322-6.
Epub 2016 Jul 28
doi: 10.1111/pde.12938.
<span class="bold">PMID: </span><a href="/pubmed/27469932" target="_blank">27469932</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23219768">The role of nail-videocapillaroscopy in early diagnosis of scleroderma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rossi D,
Russo A,
Manna E,
Binello G,
Baldovino S,
Sciascia S,
Roccatello D</span><br />
<span class="medgenPMjournal">Autoimmun Rev</span>
2013 Jun;12(8):821-5.
Epub 2012 Dec 4
doi: 10.1016/j.autrev.2012.11.006.
<span class="bold">PMID: </span><a href="/pubmed/23219768" target="_blank">23219768</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22639454">Finlay-Marks syndrome: report of two siblings and review of literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Naik P,
Kini P,
Chopra D,
Gupta Y</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2012 Jul;158A(7):1696-701.
Epub 2012 May 25
doi: 10.1002/ajmg.a.35389.
<span class="bold">PMID: </span><a href="/pubmed/22639454" target="_blank">22639454</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1468459">Craniofrontonasal dysplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kapusta L,
Brunner HG,
Hamel BC</span><br />
<span class="medgenPMjournal">Eur J Pediatr</span>
1992 Nov;151(11):837-41.
doi: 10.1007/BF01957936.
<span class="bold">PMID: </span><a href="/pubmed/1468459" target="_blank">1468459</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4581554">Psoriatic arthritis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moll JM,
Wright V</span><br />
<span class="medgenPMjournal">Semin Arthritis Rheum</span>
1973;3(1):55-78.
doi: 10.1016/0049-0172(73)90035-8.
<span class="bold">PMID: </span><a href="/pubmed/4581554" target="_blank">4581554</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20nail%20morphology%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 (112)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/21366429">Macular dystrophy in Heimler syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lima LH,
Barbazetto IA,
Chen R,
Yannuzzi LA,
Tsang SH,
Spaide RF</span><br />
<span class="medgenPMjournal">Ophthalmic Genet</span>
2011 Jun;32(2):97-100.
Epub 2011 Mar 2
doi: 10.3109/13816810.2010.551797.
<span class="bold">PMID: </span><a href="/pubmed/21366429" target="_blank">21366429</a><a href="/pmc/articles/PMC3093430" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18329533">Vascular disease in scleroderma: angiogenesis and vascular repair.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mulligan-Kehoe MJ,
Simons M</span><br />
<span class="medgenPMjournal">Rheum Dis Clin North Am</span>
2008 Feb;34(1):73-9; vi.
doi: 10.1016/j.rdc.2007.12.006.
<span class="bold">PMID: </span><a href="/pubmed/18329533" target="_blank">18329533</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8698920">Pachyonychia congenita tarda.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mouaci-Midoun N,
Cambiaghi S,
Abimelec P</span><br />
<span class="medgenPMjournal">J Am Acad Dermatol</span>
1996 Aug;35(2 Pt 2):334-5.
doi: 10.1016/s0190-9622(96)90663-5.
<span class="bold">PMID: </span><a href="/pubmed/8698920" target="_blank">8698920</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7600505">Nail manifestations of systemic diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Herzberg AJ</span><br />
<span class="medgenPMjournal">Clin Podiatr Med Surg</span>
1995 Apr;12(2):309-18.
<span class="bold">PMID: </span><a href="/pubmed/7600505" target="_blank">7600505</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1468459">Craniofrontonasal dysplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kapusta L,
Brunner HG,
Hamel BC</span><br />
<span class="medgenPMjournal">Eur J Pediatr</span>
1992 Nov;151(11):837-41.
doi: 10.1007/BF01957936.
<span class="bold">PMID: </span><a href="/pubmed/1468459" target="_blank">1468459</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20nail%20morphology%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 (135)</a></div></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Exley V,
Jones K,
O'Carroll G,
Watson J,
Backhouse M</span><br />
<span class="medgenPMjournal">J Foot Ankle Res</span>
2023 Jun 10;16(1):35.
doi: 10.1186/s13047-023-00631-1.
<span class="bold">PMID: </span><a href="/pubmed/37301845" target="_blank">37301845</a><a href="/pmc/articles/PMC10257290" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36657709">Nailfold capillaroscopy as diagnostic test in patients with psoriasis and psoriatic arthritis: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lazar LT,
Guldberg-Møller J,
Lazar BT,
Mogensen M</span><br />
<span class="medgenPMjournal">Microvasc Res</span>
2023 May;147:104476.
Epub 2023 Jan 16
doi: 10.1016/j.mvr.2023.104476.
<span class="bold">PMID: </span><a href="/pubmed/36657709" target="_blank">36657709</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32211929">Hand ultrasound patterns in rheumatoid and psoriatic arthritis: the role of ultrasound in the differential diagnosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sapundzhieva T,
Karalilova R,
Batalov A</span><br />
<span class="medgenPMjournal">Rheumatol Int</span>
2020 Jun;40(6):837-848.
Epub 2020 Mar 24
doi: 10.1007/s00296-020-04559-8.
<span class="bold">PMID: </span><a href="/pubmed/32211929" target="_blank">32211929</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31074523">A systematic review of reported cases of pachyonychia congenita tarda.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tatiane A,
Slape D,
Lawless R,
Frew JW</span><br />
<span class="medgenPMjournal">Clin Exp Dermatol</span>
2019 Aug;44(6):606-612.
Epub 2019 May 10
doi: 10.1111/ced.13980.
<span class="bold">PMID: </span><a href="/pubmed/31074523" target="_blank">31074523</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30093237">Foot and ankle characteristics in systemic lupus erythematosus: A systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stewart S,
Brenton-Rule A,
Dalbeth N,
Aiyer A,
Frampton C,
Rome K</span><br />
<span class="medgenPMjournal">Semin Arthritis Rheum</span>
2019 Apr;48(5):847-859.
Epub 2018 Aug 6
doi: 10.1016/j.semarthrit.2018.07.002.
<span class="bold">PMID: </span><a href="/pubmed/30093237" target="_blank">30093237</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20nail%20morphology%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 (6)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0853087%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (25)</a></li>
<li><a href="/gtr/tests?term=C0853087%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (25)</a></li>
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