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<meta name="keywords" content="C1857069, disease or syndrome, eccrine tumors with ectodermal dysplasia, eccrine tumors-ectodermal dysplasia, eccrine tumours with ectodermal dysplasia, keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis, keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome, palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome, palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome, schc6pf-schulz-passarge syndrome, schopf-schulz-passarge syndrome, schöpf-schulz-passarge syndrome, ssps, wnt10a, 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="Schopf-Schulz-Passarge syndrome (SSPS) is an autosomal recessive disorder characterized by a constellation of multiple eyelid cysts, hypodontia, hypotrichosis, palmoplantar hyperkeratosis, and onychodystrophy (summary by Mallaiah and Dickinson, 2001)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=347366
|
||
ConceptID=C1857069
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">SchC6pf-Schulz-Passarge syndrome<span class="h1sub">(SSPS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347366</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.">C1857069</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>ECCRINE TUMORS WITH ECTODERMAL DYSPLASIA; KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS; Schopf-Schulz-Passarge syndrome</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Schöpf-Schulz-Passarge syndrome (700062000)</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="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></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="WNT10A - ID: 80326 - NCBI Gene" href="/gene/80326" class="medgenPMinfo">WNT10A</a> (2q35)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009145" target="_blank">MONDO:0009145</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/224750" target="_blank">224750</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=50944">ORPHA50944</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_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">Schopf-Schulz-Passarge syndrome (SSPS) is an autosomal recessive disorder characterized by a constellation of multiple eyelid cysts, hypodontia, hypotrichosis, palmoplantar hyperkeratosis, and onychodystrophy (summary by Mallaiah and Dickinson, 2001). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<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_2874"><div><strong>Squamous cell carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2874</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.">C0007137</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of squamous cell carcinoma of the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2874">Feature record</a> | <a href="/medgen?term=%22Squamous%20cell%20carcinoma%22%5BClinical%20Features%5D%20OR%202874%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1648304"><div><strong>Skin basal cell carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648304</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.">C4721806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a basal cell carcinoma of the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648304">Feature record</a> | <a href="/medgen?term=%22Skin%20basal%20cell%20carcinoma%22%5BClinical%20Features%5D%20OR%201648304%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1635750"><div><strong>Palmoplantar keratoderma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1635750</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.">C4551675</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal thickening of the skin of the palms of the hands and the soles of the feet.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1635750">Feature record</a> | <a href="/medgen?term=%22Palmoplantar%20keratoderma%22%5BClinical%20Features%5D%20OR%201635750%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>
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||
<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_325243"><div><strong>Bird-like facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325243</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.">C1837758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/325243">Feature record</a> | <a href="/medgen?term=%22Bird-like%20facies%22%5BClinical%20Features%5D%20OR%20325243%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1841925"><div><strong>Multiple eyelid margin cysts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841925</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.">C5826791</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Presence of many apocrine hidrocystoma (cysts) on the margins of the eyelids.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841925">Feature record</a> | <a href="/medgen?term=%22Multiple%20eyelid%20margin%20cysts%22%5BClinical%20Features%5D%20OR%201841925%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8544"><div><strong>Ectodermal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8544</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.">C0013575</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8544">Feature record</a> | <a href="/medgen?term=%22Ectodermal%20dysplasia%22%5BClinical%20Features%5D%20OR%208544%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39324"><div><strong>Onycholysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39324</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.">C0085661</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Detachment of the nail from the nail bed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39324">Feature record</a> | <a href="/medgen?term=%22Onycholysis%22%5BClinical%20Features%5D%20OR%2039324%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_66368"><div><strong>Nail dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66368</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.">C0221260</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66368">Feature record</a> | <a href="/medgen?term=%22Nail%20dystrophy%22%5BClinical%20Features%5D%20OR%2066368%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>
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||
<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_140853"><div><strong>Ridged nail</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140853</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.">C0423820</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Longitudinal, linear prominences in the nail plate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140853">Feature record</a> | <a href="/medgen?term=%22Ridged%20nail%22%5BClinical%20Features%5D%20OR%20140853%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98073"><div><strong>Thin nail</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98073</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.">C0423823</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nail that appears thin when viewed on end.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98073">Feature record</a> | <a href="/medgen?term=%22Thin%20nail%22%5BClinical%20Features%5D%20OR%2098073%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_209030"><div><strong>Hyperkeratosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>209030</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.">C0870082</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperkeratosis is thickening of the epidermis involving the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/209030">Feature record</a> | <a href="/medgen?term=%22Hyperkeratosis%22%5BClinical%20Features%5D%20OR%20209030%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_350775"><div><strong>Sparse body hair</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350775</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.">C1862863</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sparseness of the body hair.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350775">Feature record</a> | <a href="/medgen?term=%22Sparse%20body%20hair%22%5BClinical%20Features%5D%20OR%20350775%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_404005"><div><strong>Poroma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>404005</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.">C2717981</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273].</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/404005">Feature record</a> | <a href="/medgen?term=%22Poroma%22%5BClinical%20Features%5D%20OR%20404005%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867452"><div><strong>Narrow nail</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867452</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.">C4021829</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased width of nail.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867452">Feature record</a> | <a href="/medgen?term=%22Narrow%20nail%22%5BClinical%20Features%5D%20OR%20867452%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_1851834"><div><strong>Apocrine hidrocystoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1851834</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.">C5848312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cystic lesions that forms a benign tumor of an apocrine sweat gland.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1851834">Feature record</a> | <a href="/medgen?term=%22Apocrine%20hidrocystoma%22%5BClinical%20Features%5D%20OR%201851834%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1370071"><div><strong>Abnormality of the eye</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1370071</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.">C4316870</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any abnormality of the eye, including location, spacing, and intraocular abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1370071">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20eye%22%5BClinical%20Features%5D%20OR%201370071%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_325243" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bird-like facies</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_1841925" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple eyelid margin cysts</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1635750" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Palmoplantar keratoderma</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_1370071" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the eye</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_1851834" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apocrine hidrocystoma</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_8544" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectodermal dysplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_209030" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperkeratosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66368" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nail dystrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867452" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Narrow nail</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39324" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Onycholysis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_404005" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poroma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140853" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ridged nail</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_350775" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sparse body hair</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98073" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin nail</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1648304" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Skin basal cell carcinoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2874" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Squamous cell carcinoma</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857069[DISCUI]&test_type=Clinical" ref="ncbi_uid=347366">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347366" target="_blank" href="/omim/224750">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=347366" ref="ncbi_uid=347366">V</a></span></span><span class="TLline">SchC6pf-Schulz-Passarge syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842888" ref="tree=MeSH" title="MedGen record for Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature">Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature</a></span><ul><li><span class="matched_ds">SchC6pf-Schulz-Passarge syndrome</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=10664&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">SchC6pf-Schulz-Passarge syndrome</span> in Orphanet.</div></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/36068685">International Consensus Statement on Obstructive Sleep Apnea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chang JL,
|
||
Goldberg AN,
|
||
Alt JA,
|
||
Mohammed A,
|
||
Ashbrook L,
|
||
Auckley D,
|
||
Ayappa I,
|
||
Bakhtiar H,
|
||
Barrera JE,
|
||
Bartley BL,
|
||
Billings ME,
|
||
Boon MS,
|
||
Bosschieter P,
|
||
Braverman I,
|
||
Brodie K,
|
||
Cabrera-Muffly C,
|
||
Caesar R,
|
||
Cahali MB,
|
||
Cai Y,
|
||
Cao M,
|
||
Capasso R,
|
||
Caples SM,
|
||
Chahine LM,
|
||
Chang CP,
|
||
Chang KW,
|
||
Chaudhary N,
|
||
Cheong CSJ,
|
||
Chowdhuri S,
|
||
Cistulli PA,
|
||
Claman D,
|
||
Collen J,
|
||
Coughlin KC,
|
||
Creamer J,
|
||
Davis EM,
|
||
Dupuy-McCauley KL,
|
||
Durr ML,
|
||
Dutt M,
|
||
Ali ME,
|
||
Elkassabany NM,
|
||
Epstein LJ,
|
||
Fiala JA,
|
||
Freedman N,
|
||
Gill K,
|
||
Gillespie MB,
|
||
Golisch L,
|
||
Gooneratne N,
|
||
Gottlieb DJ,
|
||
Green KK,
|
||
Gulati A,
|
||
Gurubhagavatula I,
|
||
Hayward N,
|
||
Hoff PT,
|
||
Hoffmann OMG,
|
||
Holfinger SJ,
|
||
Hsia J,
|
||
Huntley C,
|
||
Huoh KC,
|
||
Huyett P,
|
||
Inala S,
|
||
Ishman SL,
|
||
Jella TK,
|
||
Jobanputra AM,
|
||
Johnson AP,
|
||
Junna MR,
|
||
Kado JT,
|
||
Kaffenberger TM,
|
||
Kapur VK,
|
||
Kezirian EJ,
|
||
Khan M,
|
||
Kirsch DB,
|
||
Kominsky A,
|
||
Kryger M,
|
||
Krystal AD,
|
||
Kushida CA,
|
||
Kuzniar TJ,
|
||
Lam DJ,
|
||
Lettieri CJ,
|
||
Lim DC,
|
||
Lin HC,
|
||
Liu SYC,
|
||
MacKay SG,
|
||
Magalang UJ,
|
||
Malhotra A,
|
||
Mansukhani MP,
|
||
Maurer JT,
|
||
May AM,
|
||
Mitchell RB,
|
||
Mokhlesi B,
|
||
Mullins AE,
|
||
Nada EM,
|
||
Naik S,
|
||
Nokes B,
|
||
Olson MD,
|
||
Pack AI,
|
||
Pang EB,
|
||
Pang KP,
|
||
Patil SP,
|
||
Van de Perck E,
|
||
Piccirillo JF,
|
||
Pien GW,
|
||
Piper AJ,
|
||
Plawecki A,
|
||
Quigg M,
|
||
Ravesloot MJL,
|
||
Redline S,
|
||
Rotenberg BW,
|
||
Ryden A,
|
||
Sarmiento KF,
|
||
Sbeih F,
|
||
Schell AE,
|
||
Schmickl CN,
|
||
Schotland HM,
|
||
Schwab RJ,
|
||
Seo J,
|
||
Shah N,
|
||
Shelgikar AV,
|
||
Shochat I,
|
||
Soose RJ,
|
||
Steele TO,
|
||
Stephens E,
|
||
Stepnowsky C,
|
||
Strohl KP,
|
||
Sutherland K,
|
||
Suurna MV,
|
||
Thaler E,
|
||
Thapa S,
|
||
Vanderveken OM,
|
||
de Vries N,
|
||
Weaver EM,
|
||
Weir ID,
|
||
Wolfe LF,
|
||
Woodson BT,
|
||
Won CHJ,
|
||
Xu J,
|
||
Yalamanchi P,
|
||
Yaremchuk K,
|
||
Yeghiazarians Y,
|
||
Yu JL,
|
||
Zeidler M,
|
||
Rosen IM</span><br />
|
||
<span class="medgenPMjournal">Int Forum Allergy Rhinol</span>
|
||
2023 Jul;13(7):1061-1482.
|
||
Epub 2023 Mar 30
|
||
doi: 10.1002/alr.23079.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36068685" target="_blank">36068685</a><a href="/pmc/articles/PMC10359192" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24569125">Clinical practice guideline on diagnosis and treatment of hyponatraemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spasovski G,
|
||
Vanholder R,
|
||
Allolio B,
|
||
Annane D,
|
||
Ball S,
|
||
Bichet D,
|
||
Decaux G,
|
||
Fenske W,
|
||
Hoorn EJ,
|
||
Ichai C,
|
||
Joannidis M,
|
||
Soupart A,
|
||
Zietse R,
|
||
Haller M,
|
||
van der Veer S,
|
||
Van Biesen W,
|
||
Nagler E;
|
||
Hyponatraemia Guideline Development Group</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2014 Mar;170(3):G1-47.
|
||
Epub 2014 Feb 25
|
||
doi: 10.1530/EJE-13-1020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24569125" target="_blank">24569125</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24074529">Diagnosis, evaluation, and treatment of hyponatremia: expert panel recommendations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verbalis JG,
|
||
Goldsmith SR,
|
||
Greenberg A,
|
||
Korzelius C,
|
||
Schrier RW,
|
||
Sterns RH,
|
||
Thompson CJ</span><br />
|
||
<span class="medgenPMjournal">Am J Med</span>
|
||
2013 Oct;126(10 Suppl 1):S1-42.
|
||
doi: 10.1016/j.amjmed.2013.07.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24074529" target="_blank">24074529</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(schc6pf-schulz-passarge%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 (62740)</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_114">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Suggested_Reading">Suggested Reading</h1><a sid="114" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26389333">Genetics of Skin Cancer (PDQ®): Health Professional Version.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
|
||
|
||
2002
|
||
<span class="bold">PMID: </span><a href="/pubmed/26389333" target="_blank">26389333</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26389258">Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
|
||
|
||
2002
|
||
<span class="bold">PMID: </span><a href="/pubmed/26389258" target="_blank">26389258</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
|
||
</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/35103797">Defining RASopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rauen KA</span><br />
|
||
<span class="medgenPMjournal">Dis Model Mech</span>
|
||
2022 Feb 1;15(2)
|
||
doi: 10.1242/dmm.049344.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35103797" target="_blank">35103797</a><a href="/pmc/articles/PMC8821523" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34801143">Syndromic Hydrocephalus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Varagur K,
|
||
Sanka SA,
|
||
Strahle JM</span><br />
|
||
<span class="medgenPMjournal">Neurosurg Clin N Am</span>
|
||
2022 Jan;33(1):67-79.
|
||
doi: 10.1016/j.nec.2021.09.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34801143" target="_blank">34801143</a><a href="/pmc/articles/PMC8985913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33620111">Autoinflammatory syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meier-Schiesser B,
|
||
French LE</span><br />
|
||
<span class="medgenPMjournal">J Dtsch Dermatol Ges</span>
|
||
2021 Mar;19(3):400-426.
|
||
Epub 2021 Feb 23
|
||
doi: 10.1111/ddg.14332.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33620111" target="_blank">33620111</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27273803">Etiologies of uterine malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jacquinet A,
|
||
Millar D,
|
||
Lehman A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 Aug;170(8):2141-72.
|
||
Epub 2016 Jun 8
|
||
doi: 10.1002/ajmg.a.37775.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27273803" target="_blank">27273803</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23088440">The trisomy 18 syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cereda A,
|
||
Carey JC</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2012 Oct 23;7:81.
|
||
doi: 10.1186/1750-1172-7-81.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23088440" target="_blank">23088440</a><a href="/pmc/articles/PMC3520824" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22SchC6pf-Schulz-Passarge%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 (425972)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37981410">Syndromic Craniofacial Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tibesar RJ,
|
||
Scott AR</span><br />
|
||
<span class="medgenPMjournal">Facial Plast Surg Clin North Am</span>
|
||
2024 Feb;32(1):141-156.
|
||
Epub 2023 Aug 23
|
||
doi: 10.1016/j.fsc.2023.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37981410" target="_blank">37981410</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36251488">VEXAS Syndrome-A Review of Pathophysiology, Presentation, and Prognosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koster MJ,
|
||
Samec MJ,
|
||
Warrington KJ</span><br />
|
||
<span class="medgenPMjournal">J Clin Rheumatol</span>
|
||
2023 Sep 1;29(6):298-306.
|
||
Epub 2022 Oct 17
|
||
doi: 10.1097/RHU.0000000000001905.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36251488" target="_blank">36251488</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34914668">Neuromuscular hyperexcitability syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Wel B,
|
||
Claeys KG</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2021 Oct 1;34(5):714-720.
|
||
doi: 10.1097/WCO.0000000000000963.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34914668" target="_blank">34914668</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33620111">Autoinflammatory syndromes.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Meier-Schiesser B,
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2021 Mar;19(3):400-426.
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<span class="bold">PMID: </span><a href="/pubmed/33620111" target="_blank">33620111</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29995620">Incomplete Cord Syndromes: Clinical and Imaging Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kunam VK,
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Velayudhan V,
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Chaudhry ZA,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22SchC6pf-Schulz-Passarge%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 (426677)</a></div><h3 class="subhead">Therapy</h3>
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Nunez-Nagy S,
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Gallego-Izquierdo T,
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<div class="nl"><a target="_blank" href="/pubmed/28000494">Twiddler's syndrome.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22SchC6pf-Schulz-Passarge%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 (295995)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35199544">Aspiration syndromes and associated lung injury: incidence, pathophysiology and management.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/26713997" target="_blank">26713997</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/16344407" target="_blank">16344407</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/8019656">Epilepsy in children.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22SchC6pf-Schulz-Passarge%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 (223721)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37931640">Genetic predisposition to gastrointestinal polyposis: syndromes, tumour features, genetic testing, and clinical management.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/37931640" target="_blank">37931640</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yapijakis C,
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Pachis N,
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Sotiriadou T,
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Vaila C,
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Michopoulou V,
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<div class="nl"><a target="_blank" href="/pubmed/35078609">Vascular syndromes: Revisiting classification of poststroke aphasia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bunker LD,
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<div class="nl"><a target="_blank" href="/pubmed/25698387">Combined and complex vascular malformations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Clemens RK,
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Pfammatter T,
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Meier TO,
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Alomari AI,
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Amann-Vesti BR</span><br />
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<span class="medgenPMjournal">Vasa</span>
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2015 Mar;44(2):92-105.
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<span class="bold">PMID: </span><a href="/pubmed/25698387" target="_blank">25698387</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23027098">Genetic generalized epilepsies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gallentine WB,
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Mikati MA</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22SchC6pf-Schulz-Passarge%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 (255588)</a></div></div>
|
||
</div>
|
||
|
||
<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/32052621">Fear and anxiety managing methods during dental treatments: a systematic review of recent data.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">De Stefano R,
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Bruno A,
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Muscatello MR,
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Cedro C,
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Cervino G,
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Fiorillo L</span><br />
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<span class="medgenPMjournal">Minerva Stomatol</span>
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2019 Dec;68(6):317-331.
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doi: 10.23736/S0026-4970.19.04288-2.
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||
<span class="bold">PMID: </span><a href="/pubmed/32052621" target="_blank">32052621</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29291206">Effectiveness of Therapeutic Exercise in Fibromyalgia Syndrome: A Systematic Review and Meta-Analysis of Randomized Clinical Trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sosa-Reina MD,
|
||
Nunez-Nagy S,
|
||
Gallego-Izquierdo T,
|
||
Pecos-Martín D,
|
||
Monserrat J,
|
||
Álvarez-Mon M</span><br />
|
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<span class="medgenPMjournal">Biomed Res Int</span>
|
||
2017;2017:2356346.
|
||
Epub 2017 Sep 20
|
||
doi: 10.1155/2017/2356346.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29291206" target="_blank">29291206</a><a href="/pmc/articles/PMC5632473" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28000146">Cannabinoid Hyperemesis Syndrome: Diagnosis, Pathophysiology, and Treatment-a Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sorensen CJ,
|
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DeSanto K,
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Borgelt L,
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Phillips KT,
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Monte AA</span><br />
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<span class="medgenPMjournal">J Med Toxicol</span>
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2017 Mar;13(1):71-87.
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||
Epub 2016 Dec 20
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||
doi: 10.1007/s13181-016-0595-z.
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<span class="bold">PMID: </span><a href="/pubmed/28000146" target="_blank">28000146</a><a href="/pmc/articles/PMC5330965" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27373109">PLATEAU IRIS--DIAGNOSIS AND TREATMENT.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stefan C,
|
||
Iliescu DA,
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||
Batras M,
|
||
Timaru CM,
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De Simone A</span><br />
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<span class="medgenPMjournal">Rom J Ophthalmol</span>
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2015 Jan-Mar;59(1):14-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27373109" target="_blank">27373109</a><a href="/pmc/articles/PMC5729809" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25592340">Mycoplasma pneumoniae-induced rash and mucositis as a syndrome distinct from Stevens-Johnson syndrome and erythema multiforme: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Canavan TN,
|
||
Mathes EF,
|
||
Frieden I,
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Shinkai K</span><br />
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<span class="medgenPMjournal">J Am Acad Dermatol</span>
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2015 Feb;72(2):239-45.
|
||
doi: 10.1016/j.jaad.2014.06.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25592340" target="_blank">25592340</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22SchC6pf-Schulz-Passarge%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 (16920)</a></div></div>
|
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</div>
|
||
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|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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|
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<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>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1857069%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (17)</a></li>
|
||
<li><a href="/gtr/tests?term=C1857069%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1857069%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C1857069%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (25)</a></li>
|
||
<li><a href="/gtr/tests?term=C1857069%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (10)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1857069%5bDISCUI%5d" target="_blank">See all (26)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(schc6pf-schulz-passarge%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(%22SchC6pf-Schulz-Passarge%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>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Schopf-Schulz-Passarge+syndrome/9270" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/schopf_schulz_passarge_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=SchC6pf-Schulz-Passarge%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16649/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d62e8b67c23b31e0dadbfb">SchC6pf-Schulz-Passarge syndrome</a>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d62e7a67c23b31e0daa007">Hypoplastic enamel-onycholysis-hypohidrosis syndrome</a>
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