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<meta name="keywords" content="C5848103, anhidrotic ectodermal dysplasia, anhidrotic ectodermal dysplasia 1, anhidrotic ectodermal dysplasia 3, cst syndrome, disease or syndrome, ectodermal dysplasia 1, anhydrotic, ectodermal dysplasia anhidrotic, ectodermal dysplasia, hypohidrotic, eda, hed, hypohidrotic ectodermal dysplasia, hypohidrotic x-linked ectodermal dysplasia, 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="Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1853123
|
||
ConceptID=C5848103
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hypohidrotic ectodermal dysplasia<span class="h1sub">(HED)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1853123</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5848103</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>HED</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/128178">EDARADD</a>, <a target="_blank" href="/gene/10913">EDAR</a>, <a target="_blank" href="/gene/1896">EDA</a></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:0007607">HP:0007607</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0016535" target="_blank">MONDO:0016535</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238468">ORPHA238468</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1112" target="_blank">Hypohidrotic Ectodermal Dysplasia</a></div><div>Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1112#x-hed.Summary" target="NBK1112">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1112#x-hed.GeneReview_Scope" target="NBK1112">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1112#x-hed.Diagnosis" target="NBK1112">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1112#x-hed.Clinical_Characteristics" target="NBK1112">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1112#x-hed.Genetically_Related_Allelic_Disord" target="NBK1112">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1112#x-hed.Differential_Diagnosis" target="NBK1112">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1112#x-hed.Management" target="NBK1112">Management</a> | <a class="medgenPMinfo" href="/books/NBK1112#x-hed.Genetic_Counseling" target="NBK1112">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1112#x-hed.Resources" target="NBK1112">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1112#x-hed.Molecular_Genetics" target="NBK1112">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1112#x-hed.Chapter_Notes" target="NBK1112">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1112#x-hed.References" target="NBK1112">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
J Timothy Wright | Dorothy K Grange | Mary Fete <a href="/books/NBK1112" target="NBK1112" title="NCBI Bookshelf: Hypohidrotic Ectodermal Dysplasia">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
|
||
Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011). <a target="_blank" href="http://www.omim.org/entry/614941">http://www.omim.org/entry/614941</a></div></div>
|
||
</div>
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||
|
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5848103[DISCUI]&test_type=Clinical" ref="ncbi_uid=1853123">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1112/" ref="ncbi_uid=1853123">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1853123" ref="ncbi_uid=1853123">V</a></span></span><span class="TLline">Hypohidrotic ectodermal dysplasia</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN118829[DISCUI]&test_type=Clinical" ref="ncbi_uid=468426">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/468426" ref="tree=GTR&ncbi_uid=468426&link_uid=468426" title="View MedGen record for 'Autosomal hypohidrotic ectodermal dysplasia'">Autosomal hypohidrotic ectodermal dysplasia</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3888065[DISCUI]&test_type=Clinical" ref="ncbi_uid=854747">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854747" target="_blank" href="/omim/129490">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1112/" ref="ncbi_uid=854747">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854747" ref="ncbi_uid=854747">V</a></span></span><span class="TLline"><a href="/medgen/854747" ref="tree=GTR&ncbi_uid=854747&link_uid=854747" title="View MedGen record for 'Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant'">Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3887494[DISCUI]&test_type=Clinical" ref="ncbi_uid=854356">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854356" target="_blank" href="/omim/224900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1112/" ref="ncbi_uid=854356">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854356" ref="ncbi_uid=854356">V</a></span></span><span class="TLline"><a href="/medgen/854356" ref="tree=GTR&ncbi_uid=854356&link_uid=854356" title="View MedGen record for 'Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive'">Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3539920[DISCUI]&test_type=Clinical" ref="ncbi_uid=761671">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=761671" target="_blank" href="/omim/606603">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1112/" ref="ncbi_uid=761671">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=761671" ref="ncbi_uid=761671">V</a></span></span><span class="TLline"><a href="/medgen/761671" ref="tree=GTR&ncbi_uid=761671&link_uid=761671" title="View MedGen record for 'Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive'">Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0162359[DISCUI]&test_type=Clinical" ref="ncbi_uid=57890">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=57890" target="_blank" href="/omim/300451">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1112/" ref="ncbi_uid=57890">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=57890" ref="ncbi_uid=57890">V</a></span></span><span class="TLline"><a href="/medgen/57890" ref="tree=GTR&ncbi_uid=57890&link_uid=57890" title="View MedGen record for 'Hypohidrotic X-linked ectodermal dysplasia'">Hypohidrotic X-linked ectodermal dysplasia</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/350108" ref="tree=MeSH" title="MedGen record for Congenital alacrima">Congenital alacrima</a></span><ul><li><span class="matched_ds">Hypohidrotic ectodermal dysplasia</span><ul><li><span class="TLline"><a href="/medgen/539190" ref="tree=MeSH" title="MedGen record for Autosomal dominant hypohidrotic ectodermal dysplasia">Autosomal dominant hypohidrotic ectodermal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/468426" ref="tree=MeSH" title="MedGen record for Autosomal hypohidrotic ectodermal dysplasia">Autosomal hypohidrotic ectodermal dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/854747" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant">Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/854356" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive">Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/761671" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive">Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/96067" ref="tree=MeSH" title="MedGen record for Autosomal recessive hypohidrotic ectodermal dysplasia syndrome">Autosomal recessive hypohidrotic ectodermal dysplasia syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1680605" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia 15, hypohidrotic/hair type">Ectodermal dysplasia 15, hypohidrotic/hair type</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57890" ref="tree=MeSH" title="MedGen record for Hypohidrotic X-linked ectodermal dysplasia">Hypohidrotic X-linked ectodermal dysplasia</a></span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_57890"><div><strong>Hypohidrotic X-linked ectodermal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57890</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0162359</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57890">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_384046"><div><strong>Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>384046</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1857052</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare, genetic, ectodermal dysplasia syndrome characterized by the association of hypohidrotic ectodermal dysplasia (manifesting with the triad of hypohidrosis, anodontia/hypodontia and hypotrichosis) with primary hypothyroidism and respiratory tract ciliary dyskinesia. Patients frequently present urticaria pigmentosa-like skin pigmentation, increased mast cells and melanin depositions in the dermis and severe, recurrent chest infections. There have been no further descriptions in the literature since 1986.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/384046">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_762105"><div><strong>Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>762105</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3541517</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/762105">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854356"><div><strong>Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854356</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3887494</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854356">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854356" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_762105" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_384046" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_57890" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypohidrotic X-linked ectodermal dysplasia</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38347173">Craniofacial syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Faria-Teixeira MC,
|
||
Tordera C,
|
||
Salvado E Silva F,
|
||
Vaz-Carneiro A,
|
||
Iglesias-Linares A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
2024 May;95(6):1455-1475.
|
||
Epub 2024 Feb 12
|
||
doi: 10.1038/s41390-023-02907-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38347173" target="_blank">38347173</a><a href="/pmc/articles/PMC11126392" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37943264">Hypohidrotic Ectodermal Dysplasia Milia Treatment With Fractional Carbon Dioxide Laser and Laser-Assisted Drug Delivery of Triamcinolone.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mineroff J,
|
||
Dowling JR,
|
||
Golbari NM,
|
||
Wechter T,
|
||
Jagdeo J</span><br />
|
||
<span class="medgenPMjournal">J Drugs Dermatol</span>
|
||
2023 Nov 1;22(11):1130-1132.
|
||
doi: 10.36849/JDD.7650.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37943264" target="_blank">37943264</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37108325">A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schneider H,
|
||
Schweikl C,
|
||
Faschingbauer F,
|
||
Hadj-Rabia S,
|
||
Schneider P</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Apr 12;24(8)
|
||
doi: 10.3390/ijms24087155.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37108325" target="_blank">37108325</a><a href="/pmc/articles/PMC10138843" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hypohidrotic%20ectodermal%20dysplasia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (17)</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/37994770">X-linked genodermatoses from diagnosis to tailored therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Medori MC,
|
||
Gisondi P,
|
||
Bellinato F,
|
||
Bonetti G,
|
||
Micheletti C,
|
||
Donato K,
|
||
Dhuli K,
|
||
Ergoren MC,
|
||
Cristofoli F,
|
||
Cecchin S,
|
||
Marceddu G,
|
||
Bertelli M</span><br />
|
||
<span class="medgenPMjournal">Clin Ter</span>
|
||
2023 Nov-Dec;174(Suppl 2(6)):236-242.
|
||
doi: 10.7417/CT.2023.2493.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37994770" target="_blank">37994770</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37525042">Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.</a></div>
|
||
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<div class="portlet_content ln"><span class="medgenPMauthor">Reyes-Reali J,
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Mendoza-Ramos MI,
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Garrido-Guerrero E,
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<div class="portlet_content ln"><span class="medgenPMauthor">Ohno K,
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Qin M,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypohidrotic%20ectodermal%20dysplasia%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (80)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln">
|
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<div class="nl"><a target="_blank" href="/pubmed/36253866">Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Cerezo-Cayuelas M,
|
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Pérez-Silva A,
|
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Serna-Muñoz C,
|
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Vicente A,
|
||
Martínez-Beneyto Y,
|
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Cabello-Malagón I,
|
||
Ortiz-Ruiz AJ</span><br />
|
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2022 Oct 17;17(1):376.
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doi: 10.1186/s13023-022-02533-0.
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<span class="bold">PMID: </span><a href="/pubmed/36253866" target="_blank">36253866</a><a href="/pmc/articles/PMC9575248" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31981414">The characterization of hypodontia, hypohidrosis, and hypotrichosis associated with X-linked hypohidrotic ectodermal dysplasia: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Anbouba GM,
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Carmany EP,
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<span class="bold">PMID: </span><a href="/pubmed/31981414" target="_blank">31981414</a></div>
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|
||
<div class="nl"><a target="_blank" href="/pubmed/29679503">Prosthetic rehabilitation of patients with hypohidrotic ectodermal dysplasia: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schnabl D,
|
||
Grunert I,
|
||
Schmuth M,
|
||
Kapferer-Seebacher I</span><br />
|
||
<span class="medgenPMjournal">J Oral Rehabil</span>
|
||
2018 Jul;45(7):555-570.
|
||
Epub 2018 May 9
|
||
doi: 10.1111/joor.12638.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29679503" target="_blank">29679503</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypohidrotic%20ectodermal%20dysplasia%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 (3)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5848103%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
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