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<meta name="keywords" content="C0157733, abnormal hair morphology, abnormality of the hair, abnormality of the hair shaft, finding, hair abnormality, 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="An abnormality of the hair." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=56381
ConceptID=C0157733
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal hair morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56381</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.">C0157733</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Abnormality of the hair</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:0001595">HP:0001595</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">An abnormality of the hair. [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">Abnormal hair 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 hair morphology</span><ul><li><span class="TLline"><a href="/medgen/382526" ref="tree=MeSH" title="MedGen record for Abnormal eyelash morphology">Abnormal eyelash morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868075" ref="tree=MeSH" title="MedGen record for Abnormality of lower eyelashes">Abnormality of lower eyelashes</a></span><ul><li><span class="TLline"><a href="/medgen/868074" ref="tree=MeSH" title="MedGen record for Long lower eyelashes">Long lower eyelashes</a></span></li><li><span class="TLline"><a href="/medgen/868072" ref="tree=MeSH" title="MedGen record for Short lower eyelashes">Short lower eyelashes</a></span></li><li><span class="TLline"><a href="/medgen/322584" ref="tree=MeSH" title="MedGen record for Sparse lower eyelashes">Sparse lower eyelashes</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868076" ref="tree=MeSH" title="MedGen record for Abnormality of upper eyelashes">Abnormality of upper eyelashes</a></span><ul><li><span class="TLline"><a href="/medgen/870341" ref="tree=MeSH" title="MedGen record for Long upper eyelashes">Long upper eyelashes</a></span></li><li><span class="TLline"><a href="/medgen/868073" ref="tree=MeSH" title="MedGen record for Short upper eyelashes">Short upper eyelashes</a></span></li><li><span class="TLline"><a href="/medgen/868077" ref="tree=MeSH" title="MedGen record for Sparse upper eyelashes">Sparse upper eyelashes</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/382159" ref="tree=MeSH" title="MedGen record for Curly eyelashes">Curly eyelashes</a></span></li><li><span class="TLline"><a href="/medgen/636681" ref="tree=MeSH" title="MedGen record for Ectopic cilia of eyelid">Ectopic cilia of eyelid</a></span></li><li><span class="TLline"><a href="/medgen/342955" ref="tree=MeSH" title="MedGen record for Long eyelashes">Long eyelashes</a></span><ul><li><span class="TLline"><a href="/medgen/340588" ref="tree=MeSH" title="MedGen record for Long eyelashes in irregular rows">Long eyelashes in irregular rows</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1390509" ref="tree=MeSH" title="MedGen record for Loss of eyelashes">Loss of eyelashes</a></span></li><li><span class="TLline"><a href="/medgen/763250" ref="tree=MeSH" title="MedGen record for Multiple rows of eyelashes">Multiple rows of eyelashes</a></span><ul><li><span class="TLline"><a href="/medgen/98074" ref="tree=MeSH" title="MedGen record for Distichiasis">Distichiasis</a></span></li><li><span class="TLline"><a href="/medgen/349889" ref="tree=MeSH" title="MedGen record for Three rows of eyelashes">Three rows of eyelashes</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869033" ref="tree=MeSH" title="MedGen record for Prominent eyelashes">Prominent eyelashes</a></span></li><li><span class="TLline"><a href="/medgen/411272" ref="tree=MeSH" title="MedGen record for Short eyelashes">Short eyelashes</a></span></li><li><span class="TLline"><a href="/medgen/764345" ref="tree=MeSH" title="MedGen record for Sparse or absent eyelashes">Sparse or absent eyelashes</a></span><ul><li><span class="TLline"><a href="/medgen/334299" ref="tree=MeSH" title="MedGen record for Absent eyelashes">Absent eyelashes</a></span></li><li><span class="TLline"><a href="/medgen/375151" ref="tree=MeSH" title="MedGen record for Sparse eyelashes">Sparse eyelashes</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66367" ref="tree=MeSH" title="MedGen record for Trichiasis">Trichiasis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869295" ref="tree=MeSH" title="MedGen record for Abnormal hair pattern">Abnormal hair pattern</a></span><ul><li><span class="TLline"><a href="/medgen/1700934" ref="tree=MeSH" title="MedGen record for Abnormal terminal:vellus ratio">Abnormal terminal:vellus ratio</a></span><ul><li><span class="TLline"><a href="/medgen/1687361" ref="tree=MeSH" title="MedGen record for Elevated terminal:vellus ratio">Elevated terminal:vellus ratio</a></span></li><li><span class="TLline"><a href="/medgen/1706135" ref="tree=MeSH" title="MedGen record for Reduced terminal:vellus ratio">Reduced terminal:vellus ratio</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868985" ref="tree=MeSH" title="MedGen record for Acquired abnormal hair pattern">Acquired abnormal hair pattern</a></span><ul><li><span class="TLline"><a href="/medgen/871237" ref="tree=MeSH" title="MedGen record for Early balding">Early balding</a></span></li><li><span class="TLline"><a href="/medgen/355251" ref="tree=MeSH" title="MedGen record for Frontal balding">Frontal balding</a></span></li><li><span class="TLline"><a href="/medgen/350774" ref="tree=MeSH" title="MedGen record for Patchy alopecia">Patchy alopecia</a></span></li><li><span class="TLline"><a href="/medgen/1624824" ref="tree=MeSH" title="MedGen record for Tufted hairs">Tufted hairs</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868984" ref="tree=MeSH" title="MedGen record for Congenital abnormal hair pattern">Congenital abnormal hair pattern</a></span><ul><li><span class="TLline"><a href="/medgen/481933" ref="tree=MeSH" title="MedGen record for Abnormal hair whorl">Abnormal hair whorl</a></span></li><li><span class="TLline"><a href="/medgen/870405" ref="tree=MeSH" title="MedGen record for Congenital posterior occipital alopecia">Congenital posterior occipital alopecia</a></span></li><li><span class="TLline"><a href="/medgen/870856" ref="tree=MeSH" title="MedGen record for Temporal hypotrichosis">Temporal hypotrichosis</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/868983" ref="tree=MeSH" title="MedGen record for Abnormal hair quantity">Abnormal hair quantity</a></span><ul><li><span class="TLline"><a href="/medgen/108274" ref="tree=MeSH" title="MedGen record for Absent hair">Absent hair</a></span><ul><li><span class="TLline"><a href="/medgen/376305" ref="tree=MeSH" title="MedGen record for Absent facial hair">Absent facial hair</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/7982" ref="tree=MeSH" title="MedGen record for Alopecia">Alopecia</a></span><ul><li><span class="TLline"><a href="/medgen/444019" ref="tree=MeSH" title="MedGen record for Alopecia - intellectual disability syndrome">Alopecia - intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1683018" ref="tree=MeSH" title="MedGen record for Alopecia antibody deficiency">Alopecia antibody deficiency</a></span></li><li><span class="TLline"><a href="/medgen/213" ref="tree=MeSH" title="MedGen record for Alopecia areata">Alopecia areata</a></span></li><li><span class="TLline"><a href="/medgen/1419" ref="tree=MeSH" title="MedGen record for Alopecia mucinosa">Alopecia mucinosa</a></span></li><li><span class="TLline"><a href="/medgen/75525" ref="tree=MeSH" title="MedGen record for Alopecia totalis">Alopecia totalis</a></span></li><li><span class="TLline"><a href="/medgen/120481" ref="tree=MeSH" title="MedGen record for Alopecia universalis">Alopecia universalis</a></span></li><li><span class="TLline"><a href="/medgen/349262" ref="tree=MeSH" title="MedGen record for Alopecia universalis congenita">Alopecia universalis congenita</a></span></li><li><span class="TLline"><a href="/medgen/886756" ref="tree=MeSH" title="MedGen record for Alopecia, androgenetic, 1">Alopecia, androgenetic, 1</a></span></li><li><span class="TLline"><a href="/medgen/395522" ref="tree=MeSH" title="MedGen record for Alopecia, androgenetic, 2">Alopecia, androgenetic, 2</a></span></li><li><span class="TLline"><a href="/medgen/382808" ref="tree=MeSH" title="MedGen record for Alopecia, androgenetic, 3">Alopecia, androgenetic, 3</a></span></li><li><span class="TLline"><a href="/medgen/78581" ref="tree=MeSH" title="MedGen record for Alopecia, congenital">Alopecia, congenital</a></span></li><li><span class="TLline"><a href="/medgen/350833" ref="tree=MeSH" title="MedGen record for Alopecia-epilepsy-pyorrhea-intellectual disability syndrome">Alopecia-epilepsy-pyorrhea-intellectual disability 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ref="tree=MeSH" title="MedGen record for Endocrine Therapy-Induced Alopecia">Endocrine Therapy-Induced Alopecia</a></span></li><li><span class="TLline"><a href="/medgen/350835" ref="tree=MeSH" title="MedGen record for Familial focal alopecia">Familial focal alopecia</a></span></li><li><span class="TLline"><a href="/medgen/750617" ref="tree=MeSH" title="MedGen record for Folliculitis decalvans">Folliculitis decalvans</a></span></li><li><span class="TLline"><a href="/medgen/899012" ref="tree=MeSH" title="MedGen record for Frontal fibrosing alopecia">Frontal fibrosing alopecia</a></span></li><li><span class="TLline"><a href="/medgen/462053" ref="tree=MeSH" title="MedGen record for Frontonasal dysplasia with alopecia and genital anomaly">Frontonasal dysplasia with alopecia and genital anomaly</a></span></li><li><span class="TLline"><a href="/medgen/905915" ref="tree=MeSH" title="MedGen record for Graham Little-Piccardi-Lassueur syndrome">Graham Little-Piccardi-Lassueur syndrome</a></span></li><li><span class="TLline"><a href="/medgen/442697" ref="tree=MeSH" title="MedGen record for Hereditary hypotrichosis with recurrent skin vesicles">Hereditary hypotrichosis with recurrent skin vesicles</a></span></li><li><span class="TLline"><a href="/medgen/344257" ref="tree=MeSH" title="MedGen record for Hypotrichosis simplex">Hypotrichosis simplex</a></span></li><li><span class="TLline"><a href="/medgen/977122" ref="tree=MeSH" title="MedGen record for Hypotrichosis simplex of the scalp">Hypotrichosis simplex of the scalp</a></span></li><li><span class="TLline"><a href="/medgen/1679303" ref="tree=MeSH" title="MedGen record for Hypotrichosis-deafness syndrome">Hypotrichosis-deafness syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1746744" ref="tree=MeSH" title="MedGen record for IFAP syndrome 1, with or without BRESHECK syndrome">IFAP syndrome 1, with or without BRESHECK syndrome</a></span></li><li><span class="TLline"><a href="/medgen/44150" ref="tree=MeSH" title="MedGen record for Lichen planopilaris">Lichen planopilaris</a></span></li><li><span class="TLline"><a href="/medgen/98351" ref="tree=MeSH" title="MedGen record for Loose anagen hair syndrome">Loose anagen hair syndrome</a></span></li><li><span class="TLline"><a href="/medgen/898794" ref="tree=MeSH" title="MedGen record for Mandibulofacial dysostosis with alopecia">Mandibulofacial dysostosis with alopecia</a></span></li><li><span class="TLline"><a href="/medgen/419706" ref="tree=MeSH" title="MedGen record for Marie Unna syndrome">Marie Unna syndrome</a></span></li><li><span class="TLline"><a href="/medgen/334697" ref="tree=MeSH" title="MedGen record for Noonan syndrome-like disorder with loose anagen hair">Noonan syndrome-like disorder with loose anagen hair</a></span></li><li><span class="TLline"><a href="/medgen/1807813" ref="tree=MeSH" title="MedGen record for Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome">Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome</a></span></li><li><span class="TLline"><a href="/medgen/342116" ref="tree=MeSH" title="MedGen record for Progressive alopecia">Progressive alopecia</a></span></li><li><span class="TLline"><a href="/medgen/88640" ref="tree=MeSH" title="MedGen record for Pseudopelade of Brocq">Pseudopelade of Brocq</a></span></li><li><span class="TLline"><a href="/medgen/318882" ref="tree=MeSH" title="MedGen record for Satoyoshi syndrome">Satoyoshi syndrome</a></span></li><li><span class="TLline"><a href="/medgen/537938" ref="tree=MeSH" title="MedGen record for Telogen effluvium">Telogen effluvium</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/537939" ref="tree=MeSH" title="MedGen record for Anagen effluvium">Anagen effluvium</a></span></li><li><span class="TLline"><a href="/medgen/675288" ref="tree=MeSH" title="MedGen record for Atrichia">Atrichia</a></span></li><li><span class="TLline"><a href="/medgen/42461" ref="tree=MeSH" title="MedGen record for Hirsutism">Hirsutism</a></span><ul><li><span class="TLline"><a href="/medgen/336538" ref="tree=MeSH" title="MedGen record for Generalized hirsutism">Generalized hirsutism</a></span></li><li><span class="TLline"><a href="/medgen/869741" ref="tree=MeSH" title="MedGen record for Localized hirsutism">Localized hirsutism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/43787" ref="tree=MeSH" title="MedGen record for Hypertrichosis">Hypertrichosis</a></span><ul><li><span class="TLline"><a href="/medgen/87468" ref="tree=MeSH" title="MedGen record for Acquired hypertrichosis lanuginosa">Acquired hypertrichosis lanuginosa</a></span></li><li><span class="TLline"><a href="/medgen/341805" ref="tree=MeSH" title="MedGen record for Amaurosis-hypertrichosis syndrome">Amaurosis-hypertrichosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1800225" ref="tree=MeSH" title="MedGen record for Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome">Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/230818" ref="tree=MeSH" title="MedGen record for Barber-Say syndrome">Barber-Say syndrome</a></span></li><li><span class="TLline"><a href="/medgen/167117" ref="tree=MeSH" title="MedGen record for Cataract-hypertrichosis-intellectual disability syndrome">Cataract-hypertrichosis-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341004" ref="tree=MeSH" title="MedGen record for Cervical hypertrichosis-peripheral neuropathy syndrome">Cervical hypertrichosis-peripheral neuropathy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1807304" ref="tree=MeSH" title="MedGen record for Congenital, generalized hypertrichosis">Congenital, generalized hypertrichosis</a></span></li><li><span class="TLline"><a href="/medgen/1679105" ref="tree=MeSH" title="MedGen record for Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome">Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome</a></span></li><li><span class="TLline"><a href="/medgen/342000" ref="tree=MeSH" title="MedGen record for Facial hypertrichosis">Facial hypertrichosis</a></span></li><li><span class="TLline"><a href="/medgen/479570" ref="tree=MeSH" title="MedGen record for Generalized hypertrichosis">Generalized hypertrichosis</a></span></li><li><span class="TLline"><a href="/medgen/342675" ref="tree=MeSH" title="MedGen record for Gingival fibromatosis-hypertrichosis syndrome">Gingival fibromatosis-hypertrichosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/870835" ref="tree=MeSH" title="MedGen record for Hypertrichosis cubiti-short stature syndrome">Hypertrichosis cubiti-short stature syndrome</a></span></li><li><span class="TLline"><a href="/medgen/66727" ref="tree=MeSH" title="MedGen record for Hypertrichosis lanuginosa congenita">Hypertrichosis lanuginosa congenita</a></span></li><li><span class="TLline"><a href="/medgen/325346" ref="tree=MeSH" title="MedGen record for Isolated anterior cervical hypertrichosis">Isolated anterior cervical hypertrichosis</a></span></li><li><span class="TLline"><a href="/medgen/82708" ref="tree=MeSH" title="MedGen record for Leprechaunism syndrome">Leprechaunism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/868725" ref="tree=MeSH" title="MedGen record for Lumbar hypertrichosis">Lumbar hypertrichosis</a></span></li><li><span class="TLline"><a href="/medgen/78783" ref="tree=MeSH" title="MedGen record for Rabson-Mendenhall syndrome">Rabson-Mendenhall syndrome</a></span></li><li><span class="TLline"><a href="/medgen/870853" ref="tree=MeSH" title="MedGen record for Sacral hypertrichosis">Sacral hypertrichosis</a></span></li><li><span class="TLline"><a href="/medgen/868724" ref="tree=MeSH" title="MedGen record for Thoracic hypertrichosis">Thoracic hypertrichosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1790211" ref="tree=MeSH" title="MedGen record for Sparse hair">Sparse hair</a></span><ul><li><span class="TLline"><a href="/medgen/867291" ref="tree=MeSH" title="MedGen record for Generalized hypotrichosis">Generalized hypotrichosis</a></span></li><li><span class="TLline"><a href="/medgen/346500" ref="tree=MeSH" title="MedGen record for Progressive hypotrichosis">Progressive hypotrichosis</a></span></li><li><span class="TLline"><a href="/medgen/350775" ref="tree=MeSH" title="MedGen record for Sparse body hair">Sparse body hair</a></span></li><li><span class="TLline"><a href="/medgen/488981" ref="tree=MeSH" title="MedGen record for Sparse facial hair">Sparse facial hair</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892635" ref="tree=MeSH" title="MedGen record for Thick hair">Thick hair</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1815044" ref="tree=MeSH" title="MedGen record for Abnormal hairshaft morphology">Abnormal hairshaft morphology</a></span><ul><li><span class="TLline"><a href="/medgen/108185" ref="tree=MeSH" title="MedGen record for Beaded hair">Beaded hair</a></span></li><li><span class="TLline"><a href="/medgen/871158" ref="tree=MeSH" title="MedGen record for Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes">Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes</a></span></li><li><span class="TLline"><a href="/medgen/1841838" ref="tree=MeSH" title="MedGen record for Hairshafts with longitudinal grooves">Hairshafts with longitudinal grooves</a></span></li><li><span class="TLline"><a href="/medgen/348148" ref="tree=MeSH" title="MedGen record for Pili canaliculi">Pili canaliculi</a></span></li><li><span class="TLline"><a href="/medgen/82670" ref="tree=MeSH" title="MedGen record for Pili torti">Pili torti</a></span></li><li><span class="TLline"><a href="/medgen/860481" ref="tree=MeSH" title="MedGen record for Reduced hair sulfur content">Reduced hair sulfur content</a></span></li><li><span class="TLline"><a href="/medgen/892884" ref="tree=MeSH" title="MedGen record for Tiger tail banding">Tiger tail banding</a></span></li><li><span class="TLline"><a href="/medgen/82668" ref="tree=MeSH" title="MedGen record for Trichorrhexis nodosa">Trichorrhexis nodosa</a></span></li><li><span class="TLline"><a href="/medgen/698036" ref="tree=MeSH" title="MedGen record for Trichoschisis">Trichoschisis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/893150" ref="tree=MeSH" title="MedGen record for Abnormality of hair growth">Abnormality of hair growth</a></span><ul><li><span class="TLline"><a href="/medgen/868982" ref="tree=MeSH" title="MedGen record for Abnormality of hair growth rate">Abnormality of hair growth rate</a></span><ul><li><span class="TLline"><a href="/medgen/371309" ref="tree=MeSH" title="MedGen record for Slow-growing hair">Slow-growing hair</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/767707" ref="tree=MeSH" title="MedGen record for Loose anagen hair">Loose anagen hair</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869743" ref="tree=MeSH" title="MedGen record for Abnormality of hair pigmentation">Abnormality of hair pigmentation</a></span><ul><li><span class="TLline"><a href="/medgen/480031" ref="tree=MeSH" title="MedGen record for Hypopigmentation of hair">Hypopigmentation of hair</a></span><ul><li><span class="TLline"><a href="/medgen/868986" ref="tree=MeSH" title="MedGen record for Generalized hypopigmentation of hair">Generalized hypopigmentation of hair</a></span></li><li><span class="TLline"><a href="/medgen/868981" ref="tree=MeSH" title="MedGen record for Patchy hypopigmentation of hair">Patchy hypopigmentation of hair</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/375181" ref="tree=MeSH" title="MedGen record for Melanin pigment aggregation in hair shafts">Melanin pigment aggregation in hair shafts</a></span><ul><li><span class="TLline"><a href="/medgen/870855" ref="tree=MeSH" title="MedGen record for Large clumps of pigment irregularly distributed along hair shaft">Large clumps of pigment irregularly distributed along hair shaft</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75524" ref="tree=MeSH" title="MedGen record for Premature graying of hair">Premature graying of hair</a></span><ul><li><span class="TLline"><a href="/medgen/341386" ref="tree=MeSH" title="MedGen record for Premature graying of body hair">Premature graying of body hair</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66796" ref="tree=MeSH" title="MedGen record for Red hair">Red hair</a></span></li><li><span class="TLline"><a href="/medgen/373165" ref="tree=MeSH" title="MedGen record for White eyebrow">White eyebrow</a></span></li><li><span class="TLline"><a href="/medgen/332275" ref="tree=MeSH" title="MedGen record for White eyelashes">White eyelashes</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869296" ref="tree=MeSH" title="MedGen record for Abnormality of hair texture">Abnormality of hair texture</a></span><ul><li><span class="TLline"><a href="/medgen/120480" ref="tree=MeSH" title="MedGen record for Brittle hair">Brittle hair</a></span><ul><li><span class="TLline"><a href="/medgen/870836" ref="tree=MeSH" title="MedGen record for Brittle scalp hair">Brittle scalp hair</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/124454" ref="tree=MeSH" title="MedGen record for Coarse hair">Coarse hair</a></span></li><li><span class="TLline"><a href="/medgen/488919" ref="tree=MeSH" title="MedGen record for Curly hair">Curly hair</a></span></li><li><span class="TLline"><a href="/medgen/75809" ref="tree=MeSH" title="MedGen record for Dry hair">Dry hair</a></span></li><li><span class="TLline"><a href="/medgen/98401" ref="tree=MeSH" title="MedGen record for Fine hair">Fine hair</a></span></li><li><span class="TLline"><a href="/medgen/348660" ref="tree=MeSH" title="MedGen record for Uncombable hair">Uncombable hair</a></span></li><li><span class="TLline"><a href="/medgen/87469" ref="tree=MeSH" title="MedGen record for Wooly hair">Wooly hair</a></span><ul><li><span class="TLline"><a href="/medgen/348571" ref="tree=MeSH" title="MedGen record for Autosomal dominant wooly hair">Autosomal dominant wooly hair</a></span></li><li><span class="TLline"><a href="/medgen/481100" ref="tree=MeSH" title="MedGen record for Hypotrichosis 8">Hypotrichosis 8</a></span></li><li><span class="TLline"><a href="/medgen/863640" ref="tree=MeSH" title="MedGen record for Woolly scalp hair">Woolly scalp hair</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/869742" ref="tree=MeSH" title="MedGen record for Abnormality of secondary sexual hair">Abnormality of secondary sexual hair</a></span><ul><li><span class="TLline"><a href="/medgen/867896" ref="tree=MeSH" title="MedGen record for Abnormality of the axillary hair">Abnormality of the axillary hair</a></span><ul><li><span class="TLline"><a href="/medgen/347869" ref="tree=MeSH" title="MedGen record for Absent axillary hair">Absent axillary hair</a></span></li><li><span class="TLline"><a href="/medgen/348975" ref="tree=MeSH" title="MedGen record for Sparse axillary hair">Sparse axillary hair</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867897" ref="tree=MeSH" title="MedGen record for Abnormality of the pubic hair">Abnormality of the pubic hair</a></span><ul><li><span class="TLline"><a href="/medgen/349155" ref="tree=MeSH" title="MedGen record for Absent pubic hair">Absent pubic hair</a></span></li><li><span class="TLline"><a href="/medgen/388095" ref="tree=MeSH" title="MedGen record for Sparse pubic hair">Sparse pubic hair</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/892721" ref="tree=MeSH" title="MedGen record for Trichodysplasia">Trichodysplasia</a></span></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>
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<div class="divPopper rprt" id="rdis_439"><div><strong>Ataxia-telangiectasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>439</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:">C0004135</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The phenotypic spectrum of ataxia-telangiectasia (A-T), a multisystem disorder, is a continuum ranging from classic A-T at the severe end and variant A-T at the milder end. Nonetheless, distinguishing between classic A-T and variant A-T on this spectrum helps understand differences in disease course, rate of progression, and life expectancy. Classic A-T is characterized by childhood onset of progressive neurologic manifestations (initially cerebellar ataxia, followed typically by extrapyramidal involvement and peripheral sensorimotor neuropathy), immunodeficiency (variably associated with abnormalities of humoral immunity, cellular immunity, or combined immune deficiency), pulmonary disease (resulting from recurrent infections, immune deficiency, aspiration, interstitial lung disease, and neurologic abnormalities), and increased risk of malignancy. Although it is generally accepted that intellectual disability is not common in A-T, disturbances in cerebellar as well as non-cerebellar brain areas and networks may result in cognitive deficits. Increased sensitivity to ionizing radiation (x-ray and gamma ray) can result in severe side effects from such treatments. Life expectancy is significantly reduced due to cancer, pulmonary disease, and infections. Variant A-T has a significantly milder disease course. While cerebellar ataxia can be absent, extrapyramidal movement disorders are common (typically dystonia and dystonic tremor) and most individuals have manifestations of axonal sensorimotor polyneuropathy. In contrast to classic A-T, immune function is generally normal, respiratory infections are not increased, and pulmonary disease is not a major feature. However, risk of developing malignancies is increased, particularly in premenopausal females who have an increased risk of developing breast cancer and hematologic malignancies.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/439">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_75523"><div><strong>Pili annulati</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75523</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.">C0263489</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Pili annulati, or 'ringed hair,' is a disorder in which scalp hairs show alternating light and dark bands. It is often an incidental finding, and the hair usually does not show increased fragility (Green et al., 2004).&#13; See also pseudopili annulati (613241), a distinct entity.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/75523">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_78555"><div><strong>Tricho-dento-osseous syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78555</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.">C0265333</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Trichodentoosseous syndrome (TDO) is an autosomal dominant disorder with complete penetrance characterized by abnormalities involving hair, teeth, and bone (summary by Nguyen et al., 2013).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/78555">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_75667"><div><strong>3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75667</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.">C0268297</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Pseudovaginal perineoscrotal hypospadias is a form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/75667">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_98149"><div><strong>Geroderma osteodysplastica</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98149</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.">C0432255</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Geroderma osteodysplasticum (GO) is an autosomal recessive disorder characterized by skin wrinkling limited to the dorsa of hands and feet and to the abdomen, bowed long bones, and osteopenia with frequent fractures. There is a distinctive facial appearance with droopy skin at the cheeks, maxillary hypoplasia, and large ears. Adult patients appear prematurely aged (summary by Rajab et al., 2008).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98149">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_107463"><div><strong>Nonsyndromic congenital nail disorder 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107463</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.">C0544855</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/107463">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_155487"><div><strong>Cockayne syndrome type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155487</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.">C0751038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth (this form overlaps with cerebrooculofacioskeletal [COFS] syndrome); CS type III, a milder and later-onset form; and COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/155487">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_316973"><div><strong>Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>316973</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.">C1832362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/316973">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_320444"><div><strong>Metaphyseal dysplasia without hypotrichosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>320444</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.">C1834821</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine, silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/320444">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_333893"><div><strong>Hairy nose tip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333893</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.">C1841695</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/333893">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_341263"><div><strong>Van Bogaert-Hozay syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341263</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.">C1848598</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/341263">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341457"><div><strong>Red skin pigment anomaly of new guinea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341457</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.">C1849451</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/341457">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_344576"><div><strong>Ichthyosis, split hairs, and amino aciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344576</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.">C1855786</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/344576">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_395099"><div><strong>Loricrin keratoderma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395099</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.">C1858805</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Variant Vohwinkel syndrome is a rare genodermatosis characterized by hyperkeratosis of the palms and soles, with a honeycomb appearance; constricting bands encircling the digits of the hands and feet, which frequently lead to autoamputation of the fifth digits; starfish-shaped, salmon-colored hyperkeratotic lesions, or knuckle pads, on the dorsal surface of the hands; and ichthyosiform dermatosis. The pathognomonic histologic finding is markedly thickened stratum corneum, hypergranulosis, and particularly, hyperkeratosis with round nuclei retained in the stratum corneum. Unlike classic Vohwinkel syndrome, hearing loss is not a feature (summary by Maestrini et al., 1996).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/395099">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_348201"><div><strong>Familial multiple discoid fibromas</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348201</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.">C1860850</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Familial multiple discoid fibromas (FMDF) is an autosomal dominant dermatologic condition characterized by the appearance of multiple skin-colored, firm, flat or dome-shaped papules on the pinnae and the central area of the face in childhood or adolescence. Most lesions show a hair at or just outside the periphery, and many have a telangiectatic surface (summary by Starink et al., 2012).&#13; Trichodiscoma, as this lesion was first described by Pinkus et al. (1974), is a small benign fibrovascular tumor of the dermal part of the hair disc. The hair disc is a richly vascularized dermal pad in close association with a hair. It is supplied by a thick myelinated nerve and is considered to be a slow-adapting mechanoreceptor. Trichodiscomas are small, flat or dome-shaped, skin-colored, firm papules with a telangiectatic surface. Many of the lesions show a hair at the periphery or just outside it. Starink et al. (2012) renamed the lesion 'discoid fibroma' as a clarification of the histologic findings.&#13; FMDF is similar to, but histologically and genetically distinct from, Birt-Hogg-Dube syndrome (BHD; 135150), which is characterized by fibrofolliculomas as well as renal and pulmonary cysts.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/348201">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_356468"><div><strong>Premature aging syndrome, Okamoto type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356468</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.">C1866183</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/356468">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_356655"><div><strong>Flat face-microstomia-ear anomaly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356655</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.">C1866962</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of dysmorphic facial features including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/356655">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_410035"><div><strong>Tooth agenesis, selective, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>410035</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.">C1970291</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/410035">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_418932"><div><strong>Ramos-Arroyo syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>418932</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.">C2930866</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An extremely rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature and intellectual disability. The phenotype is variable. Some affected individuals have only mild disease manifestations. The etiology of this syndrome is not yet known. Mutations in an as of yet unidentified gene, involved in autonomic nervous system function, are suspected. Follows an autosomal dominant pattern of inheritance, probably with variable expressivity.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/418932">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_444009"><div><strong>Primary intestinal lymphangiectasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>444009</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.">C2931241</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing gastro-enteropathy), asthenia, moderate diarrhea, lymphedema, serous effusion and failure to thrive in children.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/444009">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_854762"><div><strong>Autosomal recessive congenital ichthyosis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854762</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.">C3888093</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 a 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 discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/854762">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_864166"><div><strong>Peeling skin syndrome type A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>864166</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.">C4015729</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Peeling skin syndrome-3 (PSS3) is characterized by asymptomatic lifelong and continuous shedding of the stratum corneum of the epidermis. Symptoms start during the second half of the first decade of life and consist of generalized white scaling occurring over the upper and lower extremities (Cabral et al. (2012)).&#13; For a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (270300).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/864166">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1626376"><div><strong>Erythrokeratodermia variabilis et progressiva 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1626376</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.">C4540331</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Erythrokeratodermia variabilis et progressiva-5 (EKVP5) is an autosomal recessive skin disorder characterized by progressive development of symmetrically distributed hyperkeratotic plaques with palmoplantar hyperkeratosis and nail thickening (Shah et al., 2017).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1626376">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1681026"><div><strong>Erythrokeratodermia variabilis et progressiva 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1681026</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.">C5193144</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">EKVP6 is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces. Intrafamilial variation in severity has been observed, and most affected individuals experience slowly progressive spontaneous remission after puberty (Wang et al., 2019).&#13; For a general phenotypic description and discussion of genetic heterogeneity of EKVP, see EKVP1 (133200).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1681026">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1800259"><div><strong>Isolated anhidrosis with normal sweat glands</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1800259</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.">C5568836</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Isolated anhidrosis with normal sweat glands (ANHD) is characterized by absence of perspiration and subsequent heat intolerance with normal morphology and number of sweat glands. Teeth, hair, nails, and skin are normal (Klar et al., 2014).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1800259">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75667" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency</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_316973" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_439" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ataxia-telangiectasia syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854762" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive congenital ichthyosis 2</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (31)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_155487" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cockayne syndrome type 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1626376" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Erythrokeratodermia variabilis et progressiva 5</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1681026" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Erythrokeratodermia variabilis et progressiva 6</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348201" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial multiple discoid fibromas</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356655" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Flat face-microstomia-ear anomaly syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Geroderma osteodysplastica</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333893" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hairy nose tip</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_344576" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ichthyosis, split hairs, and amino aciduria</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1800259" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isolated anhidrosis with normal sweat glands</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_395099" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loricrin keratoderma</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_320444" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal dysplasia without hypotrichosis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_107463" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nonsyndromic congenital nail disorder 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_864166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peeling skin syndrome type A</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75523" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pili annulati</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356468" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature aging syndrome, Okamoto type</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_444009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary intestinal lymphangiectasia</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_418932" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ramos-Arroyo syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341457" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Red skin pigment anomaly of new guinea</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_410035" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tooth agenesis, selective, 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78555" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tricho-dento-osseous syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341263" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Van Bogaert-Hozay syndrome</a></div></span></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/37166753">Keratosis pilaris: an update and approach to management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kodali N,
Patel VM,
Schwartz RA</span><br />
<span class="medgenPMjournal">Ital J Dermatol Venerol</span>
2023 Jun;158(3):217-223.
Epub 2023 May 11
doi: 10.23736/S2784-8671.23.07594-1.
<span class="bold">PMID: </span><a href="/pubmed/37166753" target="_blank">37166753</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32886029">Treatment of keratosis pilaris and its variants: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Maghfour J,
Ly S,
Haidari W,
Taylor SL,
Feldman SR</span><br />
<span class="medgenPMjournal">J Dermatolog Treat</span>
2022 May;33(3):1231-1242.
Epub 2020 Sep 14
doi: 10.1080/09546634.2020.1818678.
<span class="bold">PMID: </span><a href="/pubmed/32886029" target="_blank">32886029</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31677111">Female Androgenetic Alopecia: An Update on Diagnosis and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Starace M,
Orlando G,
Alessandrini A,
Piraccini BM</span><br />
<span class="medgenPMjournal">Am J Clin Dermatol</span>
2020 Feb;21(1):69-84.
doi: 10.1007/s40257-019-00479-x.
<span class="bold">PMID: </span><a href="/pubmed/31677111" target="_blank">31677111</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20hair%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 (80)</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/34205270">Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vasko A,
Drivas TG,
Schrier Vergano SA</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2021 Jun 19;12(6)
doi: 10.3390/genes12060937.
<span class="bold">PMID: </span><a href="/pubmed/34205270" target="_blank">34205270</a><a href="/pmc/articles/PMC8233770" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31778553">Keratosis Pilaris.</a></div>
<div class="portlet_content ln"><span class="medgenPMjournal">Pediatr Dermatol</span>
2019 Nov;36(6):937-938.
doi: 10.1111/pde.14062.
<span class="bold">PMID: </span><a href="/pubmed/31778553" target="_blank">31778553</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28840850">Classification and Current Management of Inner Ear Malformations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sennaroğlu L,
Bajin MD</span><br />
<span class="medgenPMjournal">Balkan Med J</span>
2017 Sep 29;34(5):397-411.
Epub 2017 Aug 25
doi: 10.4274/balkanmedj.2017.0367.
<span class="bold">PMID: </span><a href="/pubmed/28840850" target="_blank">28840850</a><a href="/pmc/articles/PMC5635626" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26202646">Psoriatic alopecia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">George SM,
Taylor MR,
Farrant PB</span><br />
<span class="medgenPMjournal">Clin Exp Dermatol</span>
2015 Oct;40(7):717-21.
Epub 2015 Jul 23
doi: 10.1111/ced.12715.
<span class="bold">PMID: </span><a href="/pubmed/26202646" target="_blank">26202646</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9279758">Waardenburg syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Read AP,
Newton VE</span><br />
<span class="medgenPMjournal">J Med Genet</span>
1997 Aug;34(8):656-65.
doi: 10.1136/jmg.34.8.656.
<span class="bold">PMID: </span><a href="/pubmed/9279758" target="_blank">9279758</a><a href="/pmc/articles/PMC1051028" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20hair%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 (706)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37166753">Keratosis pilaris: an update and approach to management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kodali N,
Patel VM,
Schwartz RA</span><br />
<span class="medgenPMjournal">Ital J Dermatol Venerol</span>
2023 Jun;158(3):217-223.
Epub 2023 May 11
doi: 10.23736/S2784-8671.23.07594-1.
<span class="bold">PMID: </span><a href="/pubmed/37166753" target="_blank">37166753</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36987905">Keratosis pilaris.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Drivenes JL,
Vasilescu IC,
Bygum A</span><br />
<span class="medgenPMjournal">Tidsskr Nor Laegeforen</span>
2023 Mar 28;143(5)
Epub 2023 Mar 7
doi: 10.4045/tidsskr.22.0513.
<span class="bold">PMID: </span><a href="/pubmed/36987905" target="_blank">36987905</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32446725">Monilethrix.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gómez-Moyano E,
Casaño AV,
Fernandez Ballesteros MD</span><br />
<span class="medgenPMjournal">J Pediatr</span>
2020 Sep;224:175.
Epub 2020 May 21
doi: 10.1016/j.jpeds.2020.05.024.
<span class="bold">PMID: </span><a href="/pubmed/32446725" target="_blank">32446725</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31677111">Female Androgenetic Alopecia: An Update on Diagnosis and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Starace M,
Orlando G,
Alessandrini A,
Piraccini BM</span><br />
<span class="medgenPMjournal">Am J Clin Dermatol</span>
2020 Feb;21(1):69-84.
doi: 10.1007/s40257-019-00479-x.
<span class="bold">PMID: </span><a href="/pubmed/31677111" target="_blank">31677111</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30061326">Monilethrix.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhi HL,
Liu ZH</span><br />
<span class="medgenPMjournal">CMAJ</span>
2018 Jul 30;190(30):E912.
doi: 10.1503/cmaj.180273.
<span class="bold">PMID: </span><a href="/pubmed/30061326" target="_blank">30061326</a><a href="/pmc/articles/PMC6066397" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20hair%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 (1389)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/31677111">Female Androgenetic Alopecia: An Update on Diagnosis and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Starace M,
Orlando G,
Alessandrini A,
Piraccini BM</span><br />
<span class="medgenPMjournal">Am J Clin Dermatol</span>
2020 Feb;21(1):69-84.
doi: 10.1007/s40257-019-00479-x.
<span class="bold">PMID: </span><a href="/pubmed/31677111" target="_blank">31677111</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30088232">Alopecia in Association with Malignancy: A Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Suchonwanit P,
McMichael AJ</span><br />
<span class="medgenPMjournal">Am J Clin Dermatol</span>
2018 Dec;19(6):853-865.
doi: 10.1007/s40257-018-0378-1.
<span class="bold">PMID: </span><a href="/pubmed/30088232" target="_blank">30088232</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25813885">Advanced targeted therapies in cancer: Drug nanocarriers, the future of chemotherapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pérez-Herrero E,
Fernández-Medarde A</span><br />
<span class="medgenPMjournal">Eur J Pharm Biopharm</span>
2015 Jun;93:52-79.
Epub 2015 Mar 23
doi: 10.1016/j.ejpb.2015.03.018.
<span class="bold">PMID: </span><a href="/pubmed/25813885" target="_blank">25813885</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24566563">Androgenetic alopecia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Piraccini BM,
Alessandrini A</span><br />
<span class="medgenPMjournal">G Ital Dermatol Venereol</span>
2014 Feb;149(1):15-24.
<span class="bold">PMID: </span><a href="/pubmed/24566563" target="_blank">24566563</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18004288">Healthy hair: what is it?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sinclair RD</span><br />
<span class="medgenPMjournal">J Investig Dermatol Symp Proc</span>
2007 Dec;12(2):2-5.
doi: 10.1038/sj.jidsymp.5650046.
<span class="bold">PMID: </span><a href="/pubmed/18004288" target="_blank">18004288</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20hair%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 (383)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36980920">The Klinefelter Syndrome and Testicular Sperm Retrieval Outcomes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sá R,
Ferraz L,
Barros A,
Sousa M</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2023 Mar 4;14(3)
doi: 10.3390/genes14030647.
<span class="bold">PMID: </span><a href="/pubmed/36980920" target="_blank">36980920</a><a href="/pmc/articles/PMC10048758" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30088232">Alopecia in Association with Malignancy: A Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Suchonwanit P,
McMichael AJ</span><br />
<span class="medgenPMjournal">Am J Clin Dermatol</span>
2018 Dec;19(6):853-865.
doi: 10.1007/s40257-018-0378-1.
<span class="bold">PMID: </span><a href="/pubmed/30088232" target="_blank">30088232</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24566563">Androgenetic alopecia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Piraccini BM,
Alessandrini A</span><br />
<span class="medgenPMjournal">G Ital Dermatol Venereol</span>
2014 Feb;149(1):15-24.
<span class="bold">PMID: </span><a href="/pubmed/24566563" target="_blank">24566563</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16816500">Naxos disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Adhisivam B,
Mahadevan S</span><br />
<span class="medgenPMjournal">Indian J Pediatr</span>
2006 Apr;73(4):359-60.
doi: 10.1007/BF02825834.
<span class="bold">PMID: </span><a href="/pubmed/16816500" target="_blank">16816500</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9279758">Waardenburg syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Read AP,
Newton VE</span><br />
<span class="medgenPMjournal">J Med Genet</span>
1997 Aug;34(8):656-65.
doi: 10.1136/jmg.34.8.656.
<span class="bold">PMID: </span><a href="/pubmed/9279758" target="_blank">9279758</a><a href="/pmc/articles/PMC1051028" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20hair%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 (412)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/36980920">The Klinefelter Syndrome and Testicular Sperm Retrieval Outcomes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sá R,
Ferraz L,
Barros A,
Sousa M</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2023 Mar 4;14(3)
doi: 10.3390/genes14030647.
<span class="bold">PMID: </span><a href="/pubmed/36980920" target="_blank">36980920</a><a href="/pmc/articles/PMC10048758" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28840850">Classification and Current Management of Inner Ear Malformations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sennaroğlu L,
Bajin MD</span><br />
<span class="medgenPMjournal">Balkan Med J</span>
2017 Sep 29;34(5):397-411.
Epub 2017 Aug 25
doi: 10.4274/balkanmedj.2017.0367.
<span class="bold">PMID: </span><a href="/pubmed/28840850" target="_blank">28840850</a><a href="/pmc/articles/PMC5635626" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26509855">AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS, AMERICAN COLLEGE OF ENDOCRINOLOGY, AND ANDROGEN EXCESS AND PCOS SOCIETY DISEASE STATE CLINICAL REVIEW: GUIDE TO THE BEST PRACTICES IN THE EVALUATION AND TREATMENT OF POLYCYSTIC OVARY SYNDROME--PART 1.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Goodman NF,
Cobin RH,
Futterweit W,
Glueck JS,
Legro RS,
Carmina E;
American Association of Clinical Endocrinologists (AACE);
American College of Endocrinology (ACE);
Androgen Excess and PCOS Society (AES)</span><br />
<span class="medgenPMjournal">Endocr Pract</span>
2015 Nov;21(11):1291-300.
doi: 10.4158/EP15748.DSC.
<span class="bold">PMID: </span><a href="/pubmed/26509855" target="_blank">26509855</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9279758">Waardenburg syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Read AP,
Newton VE</span><br />
<span class="medgenPMjournal">J Med Genet</span>
1997 Aug;34(8):656-65.
doi: 10.1136/jmg.34.8.656.
<span class="bold">PMID: </span><a href="/pubmed/9279758" target="_blank">9279758</a><a href="/pmc/articles/PMC1051028" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7086187">Elastin in diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Uitto J,
Ryhänen L,
Abraham PA,
Perejda AJ</span><br />
<span class="medgenPMjournal">J Invest Dermatol</span>
1982 Jul;79 Suppl 1:160s-168s.
doi: 10.1111/1523-1747.ep12546063.
<span class="bold">PMID: </span><a href="/pubmed/7086187" target="_blank">7086187</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20hair%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 (696)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/32886029">Treatment of keratosis pilaris and its variants: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Maghfour J,
Ly S,
Haidari W,
Taylor SL,
Feldman SR</span><br />
<span class="medgenPMjournal">J Dermatolog Treat</span>
2022 May;33(3):1231-1242.
Epub 2020 Sep 14
doi: 10.1080/09546634.2020.1818678.
<span class="bold">PMID: </span><a href="/pubmed/32886029" target="_blank">32886029</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30831212">Exposure to mercury and human reproductive health: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Henriques MC,
Loureiro S,
Fardilha M,
Herdeiro MT</span><br />
<span class="medgenPMjournal">Reprod Toxicol</span>
2019 Apr;85:93-103.
Epub 2019 Mar 1
doi: 10.1016/j.reprotox.2019.02.012.
<span class="bold">PMID: </span><a href="/pubmed/30831212" target="_blank">30831212</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30785992">Female Pattern Hair Loss and Androgen Excess: A Report From the Multidisciplinary Androgen Excess and PCOS Committee.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Carmina E,
Azziz R,
Bergfeld W,
Escobar-Morreale HF,
Futterweit W,
Huddleston H,
Lobo R,
Olsen E</span><br />
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
2019 Jul 1;104(7):2875-2891.
doi: 10.1210/jc.2018-02548.
<span class="bold">PMID: </span><a href="/pubmed/30785992" target="_blank">30785992</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30031145">Comorbidities in alopecia areata: A systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lee S,
Lee H,
Lee CH,
Lee WS</span><br />
<span class="medgenPMjournal">J Am Acad Dermatol</span>
2019 Feb;80(2):466-477.e16.
Epub 2018 Jul 18
doi: 10.1016/j.jaad.2018.07.013.
<span class="bold">PMID: </span><a href="/pubmed/30031145" target="_blank">30031145</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28658462">Isotretinoin and Timing of Procedural Interventions: A Systematic Review With Consensus Recommendations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Spring LK,
Krakowski AC,
Alam M,
Bhatia A,
Brauer J,
Cohen J,
Del Rosso JQ,
Diaz L,
Dover J,
Eichenfield LF,
Gurtner GC,
Hanke CW,
Jahnke MN,
Kelly KM,
Khetarpal S,
Kinney MA,
Levy ML,
Leyden J,
Longaker MT,
Munavalli GS,
Ozog DM,
Prather H,
Shumaker PR,
Tanzi E,
Torres A,
Velez MW,
Waldman AB,
Yan AC,
Zaenglein AL</span><br />
<span class="medgenPMjournal">JAMA Dermatol</span>
2017 Aug 1;153(8):802-809.
doi: 10.1001/jamadermatol.2017.2077.
<span class="bold">PMID: </span><a href="/pubmed/28658462" target="_blank">28658462</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20hair%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 (15)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Abnormal%20hair%20morphology" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20hair%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Abnormal%20hair%20morphology%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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