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<meta name="keywords" content="C5935608, aced, aplasia cutis-enamel dysplasia syndrome, disease or syndrome, fosl2, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Aplasia cutis-enamel dysplasia syndrome (ACED) is characterized by localized scalp aplasia, dental enamel anomalies, and a relatively mild neurodevelopmental disorder. A skull defect underlying the scalp aplasia has been reported in some patients (Cospain et al., 2022)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1854704
|
||
ConceptID=C5935608
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Aplasia cutis-enamel dysplasia syndrome<span class="h1sub">(ACED)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854704</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C5935608</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>ACED; APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="FOSL2 - ID: 2355 - NCBI Gene" href="/gene/2355" class="medgenPMinfo">FOSL2</a> (2p23.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0968978" target="_blank">MONDO:0968978</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620789" target="_blank">620789</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">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Aplasia cutis-enamel dysplasia syndrome (ACED) is characterized by localized scalp aplasia, dental enamel anomalies, and a relatively mild neurodevelopmental disorder. A skull defect underlying the scalp aplasia has been reported in some patients (Cospain et al., 2022). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_4693"><div><strong>Fetal growth restriction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4693</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.">C0015934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4693">Feature record</a> | <a href="/medgen?term=%22Fetal%20growth%20restriction%22%5BClinical%20Features%5D%20OR%204693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_395343"><div><strong>Postnatal growth retardation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395343</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.">C1859778</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Slow or limited growth after birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395343">Feature record</a> | <a href="/medgen?term=%22Postnatal%20growth%20retardation%22%5BClinical%20Features%5D%20OR%20395343%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163547"><div><strong>Autistic behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163547</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.">C0856975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163547">Feature record</a> | <a href="/medgen?term=%22Autistic%20behavior%22%5BClinical%20Features%5D%20OR%20163547%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_333548"><div><strong>Cerebellar vermis hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333548</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.">C1840379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the vermis of cerebellum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333548">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20vermis%20hypoplasia%22%5BClinical%20Features%5D%20OR%20333548%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867519"><div><strong>Short corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867519</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.">C4021902</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867519">Feature record</a> | <a href="/medgen?term=%22Short%20corpus%20callosum%22%5BClinical%20Features%5D%20OR%20867519%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3730"><div><strong>Enamel hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3730</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.">C0011351</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental hypoplasia of the dental enamel.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3730">Feature record</a> | <a href="/medgen?term=%22Enamel%20hypoplasia%22%5BClinical%20Features%5D%20OR%203730%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43794"><div><strong>Hypodontia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43794</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.">C0020608</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in nature, as reviewed by Gorlin et al. (1990). The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see 114600 and 302400. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete (Salinas, 1978). Genetic Heterogeneity of Selective Tooth Agenesis Other forms of selective tooth agenesis include STHAG2 (602639), mapped to chromosome 16q12; STHAG3 (604625), caused by mutation in the PAX9 gene (167416) on chromosome 14q12; STHAG4 (150400), caused by mutation in the WNT10A gene (606268) on chromosome 2q35; STHAG5 (610926), mapped to chromosome 10q11; STHAG7 (616724), caused by mutation in the LRP6 gene (603507) on chromosome 12p13; STHAG8 (617073), caused by mutation in the WNT10B gene (601906) on chromosome 12q13; STHAG9 (617275), caused by mutation in the GREM2 gene (608832) on chromosome 1q43; STHAG10 (620173), caused by mutation in the TSPEAR gene (612920) on chromosome 21q22; and STHAGX1 (313500), caused by mutation in the EDA gene (300451) on chromosome Xq13. A type of selective tooth agenesis that was formerly designated STHAG6 has been incorporated into the dental anomalies and short stature syndrome (DASS; 601216). Of 34 unrelated patients with nonsyndromic tooth agenesis, van den Boogaard et al. (2012) found that 56% (19 patients) had mutations in the WNT10A gene (STHAG4), whereas only 3% and 9% had mutations in the MSX1 (STHAG1) and PAX9 (STHAG3) genes, respectively. The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. Genotype-Phenotype Correlations Yu et al. (2016) observed that the most frequently missing permanent teeth in WNT10B-associated oligodontia were the lateral incisors (83.3%), whereas premolars were missing only 51.4% of the time, which they noted was a pattern 'clearly different' from the oligodontia patterns resulting from WNT10A mutations. They also stated that the selective pattern in WNT10B mutants was different from that associated with mutations in other genes, such as MSX1, in which second premolars are missing, and PAX9, in which there is agenesis of molars.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43794">Feature record</a> | <a href="/medgen?term=%22Hypodontia%22%5BClinical%20Features%5D%20OR%2043794%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66678"><div><strong>Premature loss of teeth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66678</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.">C0232513</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66678">Feature record</a> | <a href="/medgen?term=%22Premature%20loss%20of%20teeth%22%5BClinical%20Features%5D%20OR%2066678%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68678"><div><strong>Delayed eruption of teeth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68678</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.">C0239174</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68678">Feature record</a> | <a href="/medgen?term=%22Delayed%20eruption%20of%20teeth%22%5BClinical%20Features%5D%20OR%2068678%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43787"><div><strong>Hypertrichosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43787</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.">C0020555</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypertrichosis is increased hair growth that is abnormal in quantity or location.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43787">Feature record</a> | <a href="/medgen?term=%22Hypertrichosis%22%5BClinical%20Features%5D%20OR%2043787%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56250"><div><strong>Dry skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56250</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.">C0151908</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Skin characterized by the lack of natural or normal moisture.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56250">Feature record</a> | <a href="/medgen?term=%22Dry%20skin%22%5BClinical%20Features%5D%20OR%2056250%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78093"><div><strong>Cutis marmorata</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78093</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.">C0263401</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78093">Feature record</a> | <a href="/medgen?term=%22Cutis%20marmorata%22%5BClinical%20Features%5D%20OR%2078093%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_537942"><div><strong>Small nail</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>537942</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.">C0263523</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A nail that is diminished in length and width, i.e., underdeveloped nail.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/537942">Feature record</a> | <a href="/medgen?term=%22Small%20nail%22%5BClinical%20Features%5D%20OR%20537942%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343411"><div><strong>Aplasia cutis congenita of scalp</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343411</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.">C1855698</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A developmental defect resulting in the congenital absence of skin on the scalp.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343411">Feature record</a> | <a href="/medgen?term=%22Aplasia%20cutis%20congenita%20of%20scalp%22%5BClinical%20Features%5D%20OR%20343411%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341661"><div><strong>Fragile nails</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341661</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.">C1856963</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nails that easily break.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341661">Feature record</a> | <a href="/medgen?term=%22Fragile%20nails%22%5BClinical%20Features%5D%20OR%20341661%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1790211"><div><strong>Sparse hair</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1790211</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.">C5551005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced density of hairs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1790211">Feature record</a> | <a href="/medgen?term=%22Sparse%20hair%22%5BClinical%20Features%5D%20OR%201790211%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39462"><div><strong>Cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39462</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.">C0086543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39462">Feature record</a> | <a href="/medgen?term=%22Cataract%22%5BClinical%20Features%5D%20OR%2039462%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68678" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed eruption of teeth</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3730" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Enamel hypoplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypodontia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66678" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature loss of teeth</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39462" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataract</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343411" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aplasia cutis congenita of scalp</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78093" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutis marmorata</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56250" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dry skin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341661" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fragile nails</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43787" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrichosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_537942" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Small nail</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1790211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sparse hair</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autistic behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333548" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar vermis hypoplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867519" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short corpus callosum</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal growth restriction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_395343" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Postnatal growth retardation</a></span></li></ul></li></ul></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>
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||
<div class="nl"><a target="_blank" href="/pubmed/36648381">The etiology, clinical features, and treatment options of hemifacial microsomia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luo S,
|
||
Sun H,
|
||
Bian Q,
|
||
Liu Z,
|
||
Wang X</span><br />
|
||
<span class="medgenPMjournal">Oral Dis</span>
|
||
2023 Sep;29(6):2449-2462.
|
||
Epub 2023 Mar 13
|
||
doi: 10.1111/odi.14508.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36648381" target="_blank">36648381</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34985762">Chronic myelomonocytic leukemia: 2022 update on diagnosis, risk stratification, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patnaik MM,
|
||
Tefferi A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2022 Mar 1;97(3):352-372.
|
||
Epub 2022 Jan 27
|
||
doi: 10.1002/ajh.26455.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34985762" target="_blank">34985762</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21934706">Alagille syndrome: pathogenesis, diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turnpenny PD,
|
||
Ellard S</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2012 Mar;20(3):251-7.
|
||
Epub 2011 Sep 21
|
||
doi: 10.1038/ejhg.2011.181.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21934706" target="_blank">21934706</a><a href="/pmc/articles/PMC3283172" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(aplasia%20cutis-enamel%20dysplasia%20syndrome)%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 (169)</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/38766979">Simpson-Golabi-Behmel syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vaisfeld A,
|
||
Neri G</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2024 Dec;196(4):e32088.
|
||
Epub 2024 May 20
|
||
doi: 10.1002/ajmg.c.32088.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38766979" target="_blank">38766979</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32969353">Aplasia cutis congenita with dystrophic epidermolysis bullosa: Bart syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu XG,
|
||
Zhang C,
|
||
Qin J,
|
||
Gao XH,
|
||
Zhang L</span><br />
|
||
<span class="medgenPMjournal">Indian J Dermatol Venereol Leprol</span>
|
||
2022 Mar-Apr;88(2):210-211.
|
||
doi: 10.4103/ijdvl.IJDVL_1094_19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32969353" target="_blank">32969353</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28711234">Sleep related breathing disorders and indications for polysomnography in preterm infants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Joosten K,
|
||
de Goederen R,
|
||
Pijpers A,
|
||
Allegaert K</span><br />
|
||
<span class="medgenPMjournal">Early Hum Dev</span>
|
||
2017 Oct;113:114-119.
|
||
Epub 2017 Jul 12
|
||
doi: 10.1016/j.earlhumdev.2017.07.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28711234" target="_blank">28711234</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11132469">Newer diarrheal syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sawczenko A,
|
||
Sandhu BK</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
1999;66(1 Suppl):S46-51.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11132469" target="_blank">11132469</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/335375">Metaphyseal chondrodysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spranger JW</span><br />
|
||
<span class="medgenPMjournal">Postgrad Med J</span>
|
||
1977 Aug;53(622):480-7.
|
||
doi: 10.1136/pgmj.53.622.480.
|
||
<span class="bold">PMID: </span><a href="/pubmed/335375" target="_blank">335375</a><a href="/pmc/articles/PMC2496735" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20cutis-enamel%20dysplasia%20syndrome%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 (1407)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29322497">Genetics of patella hypoplasia/agenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vanlerberghe C,
|
||
Boutry N,
|
||
Petit F</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2018 Jul;94(1):43-53.
|
||
Epub 2018 Apr 11
|
||
doi: 10.1111/cge.13209.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29322497" target="_blank">29322497</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24992861">Lobster claw deformity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Agrawal A,
|
||
Agrawal R,
|
||
Singh R,
|
||
Agrawal R,
|
||
Agrawal S</span><br />
|
||
<span class="medgenPMjournal">Indian J Dent Res</span>
|
||
2014 Mar-Apr;25(2):243-7.
|
||
doi: 10.4103/0970-9290.135935.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24992861" target="_blank">24992861</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15748593">Rapp-Hodgkin syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim G,
|
||
Shin H</span><br />
|
||
<span class="medgenPMjournal">Dermatol Online J</span>
|
||
2004 Nov 30;10(3):23.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15748593" target="_blank">15748593</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9426270">Congenital glenoid dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Currarino G,
|
||
Sheffield E,
|
||
Twickler D</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
1998 Jan;28(1):30-7.
|
||
doi: 10.1007/s002470050287.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9426270" target="_blank">9426270</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2810341">Osteoglophonic dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beighton P</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1989 Sep;26(9):572-6.
|
||
doi: 10.1136/jmg.26.9.572.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2810341" target="_blank">2810341</a><a href="/pmc/articles/PMC1015696" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20cutis-enamel%20dysplasia%20syndrome%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 (2686)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34731287">Congenital musculoskeletal anomalies - key radiographic findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gill KG</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2022 Apr;52(4):777-785.
|
||
Epub 2021 Nov 3
|
||
doi: 10.1007/s00247-021-05200-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34731287" target="_blank">34731287</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33428785">Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patnaik MM,
|
||
Tefferi A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2021 Mar 1;96(3):379-394.
|
||
Epub 2021 Jan 28
|
||
doi: 10.1002/ajh.26090.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33428785" target="_blank">33428785</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32930508">Persistent pulmonary hypertension of the newborn.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mandell E,
|
||
Kinsella JP,
|
||
Abman SH</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2021 Mar;56(3):661-669.
|
||
doi: 10.1002/ppul.25073.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32930508" target="_blank">32930508</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24656536">Myelodysplastic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adès L,
|
||
Itzykson R,
|
||
Fenaux P</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2014 Jun 28;383(9936):2239-52.
|
||
Epub 2014 Mar 21
|
||
doi: 10.1016/S0140-6736(13)61901-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24656536" target="_blank">24656536</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21163155">Conradi-Hünermann-Happle syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hartman RD,
|
||
Molho-Pessach V,
|
||
Schaffer JV</span><br />
|
||
<span class="medgenPMjournal">Dermatol Online J</span>
|
||
2010 Nov 15;16(11):4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21163155" target="_blank">21163155</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20cutis-enamel%20dysplasia%20syndrome%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 (327)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32969353">Aplasia cutis congenita with dystrophic epidermolysis bullosa: Bart syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu XG,
|
||
Zhang C,
|
||
Qin J,
|
||
Gao XH,
|
||
Zhang L</span><br />
|
||
<span class="medgenPMjournal">Indian J Dermatol Venereol Leprol</span>
|
||
2022 Mar-Apr;88(2):210-211.
|
||
doi: 10.4103/ijdvl.IJDVL_1094_19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32969353" target="_blank">32969353</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16567923">Jarcho-Levin syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kulkarni ML,
|
||
Navaz SR,
|
||
Vani HN,
|
||
Manjunath KS,
|
||
Matani D</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2006 Mar;73(3):245-7.
|
||
doi: 10.1007/BF02825493.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16567923" target="_blank">16567923</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15876600">Yunis-Varon syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhatia S,
|
||
Holla RG</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
2005 Apr;42(4):373-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15876600" target="_blank">15876600</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15846173">Increased nuchal translucency with normal karyotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Souka AP,
|
||
Von Kaisenberg CS,
|
||
Hyett JA,
|
||
Sonek JD,
|
||
Nicolaides KH</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2005 Apr;192(4):1005-21.
|
||
doi: 10.1016/j.ajog.2004.12.093.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15846173" target="_blank">15846173</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7035111">The Wagner-Stickler syndrome complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Godel V,
|
||
Nemet P,
|
||
Lazar M</span><br />
|
||
<span class="medgenPMjournal">Doc Ophthalmol</span>
|
||
1981 Dec 16;52(2):179-88.
|
||
doi: 10.1007/BF01675204.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7035111" target="_blank">7035111</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20cutis-enamel%20dysplasia%20syndrome%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 (1069)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34895016">Choroidal calcifications in two cases of aplasia cutis congenita and oculoectodermal syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kalavar M,
|
||
Echegaray JJ,
|
||
Ashkenazy N,
|
||
McKeown C,
|
||
Berrocal AM</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2022 Apr;43(2):258-261.
|
||
Epub 2021 Dec 13
|
||
doi: 10.1080/13816810.2021.1998552.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34895016" target="_blank">34895016</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30201151">Trichoscopy in Hair Shaft Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rudnicka L,
|
||
Olszewska M,
|
||
Waśkiel A,
|
||
Rakowska A</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2018 Oct;36(4):421-430.
|
||
Epub 2018 Aug 16
|
||
doi: 10.1016/j.det.2018.05.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30201151" target="_blank">30201151</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29322497">Genetics of patella hypoplasia/agenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vanlerberghe C,
|
||
Boutry N,
|
||
Petit F</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2018 Jul;94(1):43-53.
|
||
Epub 2018 Apr 11
|
||
doi: 10.1111/cge.13209.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29322497" target="_blank">29322497</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18065301">Dysplastic kidneys.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Winyard P,
|
||
Chitty LS</span><br />
|
||
<span class="medgenPMjournal">Semin Fetal Neonatal Med</span>
|
||
2008 Jun;13(3):142-51.
|
||
Epub 2007 Dec 11
|
||
doi: 10.1016/j.siny.2007.10.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18065301" target="_blank">18065301</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9426270">Congenital glenoid dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Currarino G,
|
||
Sheffield E,
|
||
Twickler D</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
1998 Jan;28(1):30-7.
|
||
doi: 10.1007/s002470050287.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9426270" target="_blank">9426270</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20cutis-enamel%20dysplasia%20syndrome%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 (1097)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38230874">Natural history of Wolcott-Rallison syndrome: A systematic review and follow-up study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aldrian D,
|
||
Bochdansky C,
|
||
Kavallar AM,
|
||
Mayerhofer C,
|
||
Deeb A,
|
||
Habeb A,
|
||
Romera Rabasa A,
|
||
Khadilkar A,
|
||
Uçar A,
|
||
Knoppke B,
|
||
Zafeiriou D,
|
||
Lang-Muritano M,
|
||
Miqdady M,
|
||
Judmaier S,
|
||
McLin V,
|
||
Furdela V,
|
||
Müller T,
|
||
Vogel GF</span><br />
|
||
<span class="medgenPMjournal">Liver Int</span>
|
||
2024 Mar;44(3):811-822.
|
||
Epub 2024 Jan 17
|
||
doi: 10.1111/liv.15834.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38230874" target="_blank">38230874</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38054560">Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blayney GV,
|
||
Laffan E,
|
||
Jacob PA,
|
||
Baptiste CD,
|
||
Gabriel H,
|
||
Sparks TN,
|
||
Yaron Y,
|
||
Norton ME,
|
||
Diderich K,
|
||
Wang Y,
|
||
Chong K,
|
||
Chitayat D,
|
||
Saini N,
|
||
Aggarwal S,
|
||
Pauta M,
|
||
Borrell A,
|
||
Gilmore K,
|
||
Chandler NJ,
|
||
Allen S,
|
||
Vora N,
|
||
Noor A,
|
||
Monaghan C,
|
||
Kilby MD,
|
||
Wapner RJ,
|
||
Chitty LS,
|
||
Mone F</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2024 Apr;44(4):422-431.
|
||
Epub 2023 Dec 6
|
||
doi: 10.1002/pd.6466.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38054560" target="_blank">38054560</a><a href="/pmc/articles/PMC11044826" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36916904">Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schigt H,
|
||
Bald M,
|
||
van der Eerden BCJ,
|
||
Gal L,
|
||
Ilenwabor BP,
|
||
Konrad M,
|
||
Levine MA,
|
||
Li D,
|
||
Mache CJ,
|
||
Mackin S,
|
||
Perry C,
|
||
Rios FJ,
|
||
Schlingmann KP,
|
||
Storey B,
|
||
Trapp CM,
|
||
Verkerk AJMH,
|
||
Zillikens MC,
|
||
Touyz RM,
|
||
Hoorn EJ,
|
||
Hoenderop JGJ,
|
||
de Baaij JHF</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2023 Aug 18;108(9):e754-e768.
|
||
doi: 10.1210/clinem/dgad147.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36916904" target="_blank">36916904</a><a href="/pmc/articles/PMC10438882" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35846334">The Clinical Characteristics and Gene Mutations of Maturity-Onset Diabetes of the Young Type 5 in Sixty-One Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ge S,
|
||
Yang M,
|
||
Cui Y,
|
||
Wu J,
|
||
Xu L,
|
||
Dong J,
|
||
Liao L</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2022;13:911526.
|
||
Epub 2022 Jun 30
|
||
doi: 10.3389/fendo.2022.911526.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35846334" target="_blank">35846334</a><a href="/pmc/articles/PMC9281895" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34711759">Surgical Treatment for Patients With Binder Syndrome, Clinical Features and Associated Symptoms: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kerbrat A,
|
||
Ferri J</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2022 Mar-Apr 01;33(2):530-533.
|
||
doi: 10.1097/SCS.0000000000008325.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34711759" target="_blank">34711759</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20cutis-enamel%20dysplasia%20syndrome%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 (21)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=620789" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Aplasia%20cutis-enamel%20dysplasia%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(aplasia%20cutis-enamel%20dysplasia%20syndrome)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Aplasia%20cutis-enamel%20dysplasia%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=601575" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2355[geneid]" target="_blank">View FOSL2 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=620789" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/aplasia_cutis_enamel_dysplasia_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Aplasia%20cutis-enamel%20dysplasia%20syndrome" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Aplasia%20cutis-enamel%20dysplasia%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Aplasia%20cutis-enamel%20dysplasia%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1854704" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1854704" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1854704" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=1854704" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1854704" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1854704" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=1854704" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
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|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cd1551b15b832ebcd8ec50">Aplasia cutis-enamel dysplasia syndrome</a>
|
||
<div class="ralinkpop offscreen_noflow">Aplasia cutis-enamel dysplasia syndrome<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cd154ff4a390645e253534">C5935608[conceptid] <span class="number">(1)</span></a>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cd154db15b832ebcd8d4e8">C0282160[trait identifier] AND "OMIM"[submitter] <span class="number">(1)</span></a>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
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