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<meta name="keywords" content="C0004779, basal cell carcinoma syndrome, basal cell nevus syndrome, basal cell nevus syndrome 1, bcns, bcns - basal cell nevus syndrome, bcns1, fifth phacomatoses, fifth phacomatosis, gorlin goltz syndrome, gorlin syndrome, gorlin's syndrome, gorlin-goltz syndrome, multiple basal cell carcinomas, multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies, nbccs, nbccs - nevoid basal cell carcinoma syndrome, neoplastic process, nevoid basal cell cancer syndrome, nevoid basal cell carcinoma syndrome, nevus syndrome, basal cell, syndrome, gorlin, syndrome, gorlin-goltz, 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="Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs), usually from the third decade onward. Many individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in 90% of affected individuals by age 30 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals, respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (<2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=2554
|
||
ConceptID=C0004779
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Gorlin syndrome<span class="h1sub">(BCNS; NBCCS; BCNS1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2554</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:">C0004779</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Basal cell nevus syndrome; Nevoid Basal Cell Carcinoma Syndrome</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Gorlin syndrome (69408002); Nevoid basal cell carcinoma syndrome (69408002); Basal cell carcinoma syndrome (69408002); Gorlin-Goltz syndrome (69408002); Basal cell nevus syndrome (69408002); NBCCS - Nevoid basal cell carcinoma syndrome (69408002); BCNS - Basal cell nevus syndrome (69408002); Gorlin's syndrome (69408002)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<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>
|
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<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" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/51684">SUFU</a>, <a target="_blank" href="/gene/5727">PTCH1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007187" target="_blank">MONDO:0007187</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/109400" target="_blank">109400</a>; <a href="https://omim.org/entry/601309" target="_blank">601309</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS109400" target="_blank">PS109400</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=377">ORPHA377</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1151" target="_blank">Nevoid Basal Cell Carcinoma Syndrome</a></div><div>Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs), usually from the third decade onward. Many individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in 90% of affected individuals by age 30 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals, respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (<2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1151#bcns.Summary" target="NBK1151">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1151#bcns.Diagnosis" target="NBK1151">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1151#bcns.Clinical_Characteristics" target="NBK1151">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1151#bcns.Genetically_Related_Allelic_Disorde" target="NBK1151">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1151#bcns.Differential_Diagnosis" target="NBK1151">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1151#bcns.Management" target="NBK1151">Management</a> | <a class="medgenPMinfo" href="/books/NBK1151#bcns.Genetic_Counseling" target="NBK1151">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1151#bcns.Resources" target="NBK1151">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1151#bcns.Molecular_Genetics" target="NBK1151">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1151#bcns.Chapter_Notes" target="NBK1151">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1151#bcns.References" target="NBK1151">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
D Gareth Evans <a href="/books/NBK1151" target="NBK1151" title="NCBI Bookshelf: Nevoid Basal Cell Carcinoma Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />The basal cell nevus syndrome (BCNS) is characterized by numerous basal cell cancers and epidermal cysts of the skin, calcified dural folds, keratocysts of the jaws, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesenteric cysts, fetal rhabdomyomas, and various stigmata of maldevelopment (e.g., rib and vertebral abnormalities, cleft lip or cleft palate, and cortical defects of bones) (summary by Koch et al., 2002).
|
||
Genetic Heterogeneity of Basal Cell Nevus Syndrome
|
||
See also BCNS2, caused by mutation in the SUFU gene (607035) on chromosome 10q24. <a target="_blank" href="http://www.omim.org/entry/109400">http://www.omim.org/entry/109400</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a condition that affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors.<br /><br />In people with Gorlin syndrome, the type of cancer diagnosed most often is basal cell carcinoma, which is the most common form of skin cancer. Individuals with Gorlin syndrome typically begin to develop basal cell carcinomas during adolescence or early adulthood. These cancers occur most often on the face, chest, and back. The number of basal cell carcinomas that develop during a person's lifetime varies among affected individuals. Some people with Gorlin syndrome never develop any basal cell carcinomas, while others may develop thousands of these cancers. Individuals with lighter skin are more likely to develop basal cell carcinomas than are people with darker skin. The number of carcinomas may be reduced with ongoing treatment.<br /><br />Most people with Gorlin syndrome also develop noncancerous (benign) tumors of the jaw, called keratocystic odontogenic tumors. These tumors usually first appear during adolescence, and new tumors form until about age 30. Keratocystic odontogenic tumors rarely develop later in adulthood. If untreated, these tumors may cause painful facial swelling and tooth displacement.<br /><br />Individuals with Gorlin syndrome have a higher risk than the general population of developing other tumors. A small proportion of affected individuals develop a brain tumor called medulloblastoma during childhood. A type of benign tumor called a fibroma can occur in the heart or in a woman's ovaries. Heart (cardiac) fibromas often do not cause any symptoms, but they may obstruct blood flow or cause irregular heartbeats (arrhythmia). Ovarian fibromas are not thought to affect a woman's ability to have children (fertility).<br /><br />Other features of Gorlin syndrome include small depressions (pits) in the skin of the palms of the hands and soles of the feet; an unusually large head size (macrocephaly) with a prominent forehead; and skeletal abnormalities involving the spine, ribs, or skull. These signs and symptoms are typically apparent from birth or become evident in early childhood. <a target="_blank" href="https://medlineplus.gov/genetics/condition/gorlin-syndrome">https://medlineplus.gov/genetics/condition/gorlin-syndrome</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />9q22.3 microdeletion is a chromosomal change in which a small piece of chromosome 9 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q22.3. This chromosomal change is associated with delayed development, intellectual disability, certain physical abnormalities, and the characteristic features of a genetic condition called Gorlin syndrome.<br /><br />9q22.3 microdeletions also cause the characteristic features of Gorlin syndrome (also known as nevoid basal cell carcinoma syndrome). This genetic condition affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors. In people with Gorlin syndrome, the type of cancer diagnosed most often is basal cell carcinoma, which is the most common form of skin cancer. Most people with this condition also develop noncancerous (benign) tumors of the jaw, called keratocystic odontogenic tumors, which can cause facial swelling and tooth displacement. Other types of tumors that occur in some people with Gorlin syndrome include a form of childhood brain cancer called a medulloblastoma and a type of benign tumor called a fibroma that occurs in the heart or in a woman's ovaries. Other features of Gorlin syndrome include small depressions (pits) in the skin of the palms of the hands and soles of the feet; an unusually large head size (macrocephaly) with a prominent forehead; and skeletal abnormalities involving the spine, ribs, or skull.<br /><br />Many individuals with a 9q22.3 microdeletion have delayed development, particularly affecting the development of motor skills such as sitting, standing, and walking. In some people, the delays are temporary and improve in childhood. More severely affected individuals have permanent developmental disabilities along with intellectual impairment and learning problems. Rarely, seizures have been reported in people with a 9q22.3 microdeletion.<br /><br />About 20 percent of people with a 9q22.3 microdeletion experience overgrowth (macrosomia), which results in increased height and weight compared to unaffected peers. The macrosomia often begins before birth and continues into childhood. Other physical changes that are sometimes associated with a 9q22.3 microdeletion include the premature fusion of certain bones in the skull (metopic craniosynostosis) and a buildup of fluid in the brain (hydrocephalus). Affected individuals can also have distinctive facial features such as a prominent forehead with vertical skin creases, upward- or downward-slanting eyes, a short nose, and a long space between the nose and upper lip (philtrum). <a target="_blank" href="https://medlineplus.gov/genetics/condition/9q223-microdeletion">https://medlineplus.gov/genetics/condition/9q223-microdeletion</a></div></div>
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</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>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<div class="divPopper rprt" id="clin_48445"><div><strong>Rhabdomyoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48445</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.">C0035411</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">A benign tumor of striated muscle.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/48445">Feature record</a> | <a href="/medgen?term=%22Rhabdomyoma%22%5BClinical%20Features%5D%20OR%2048445%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_57706"><div><strong>Fibroma of ovary</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57706</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.">C0149951</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">The presence of a fibroma of the ovary.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/57706">Feature record</a> | <a href="/medgen?term=%22Fibroma%20of%20ovary%22%5BClinical%20Features%5D%20OR%2057706%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_203335"><div><strong>Cardiac fibroma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>203335</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.">C1096654</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">A fibroma of the heart.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/203335">Feature record</a> | <a href="/medgen?term=%22Cardiac%20fibroma%22%5BClinical%20Features%5D%20OR%20203335%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_232027"><div><strong>Cardiac rhabdomyoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>232027</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.">C1332852</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">A benign tumor of cardiac striated muscle.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/232027">Feature record</a> | <a href="/medgen?term=%22Cardiac%20rhabdomyoma%22%5BClinical%20Features%5D%20OR%20232027%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_1648335"><div><strong>Ovarian carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648335</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.">C4721610</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">A malignant neoplasm originating from the surface ovarian epithelium.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1648335">Feature record</a> | <a href="/medgen?term=%22Ovarian%20carcinoma%22%5BClinical%20Features%5D%20OR%201648335%5Buid%5D">Search on this feature</a></div></div>
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||
<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>
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||
<div class="spaceAbove">The presence of a basal cell carcinoma of the skin.</div>
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||
<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_57774"><div><strong>Polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57774</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.">C0152427</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">A congenital anomaly characterized by the presence of supernumerary fingers or toes.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/57774">Feature record</a> | <a href="/medgen?term=%22Polydactyly%22%5BClinical%20Features%5D%20OR%2057774%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_67454"><div><strong>Brachydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67454</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.">C0221357</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/67454">Feature record</a> | <a href="/medgen?term=%22Brachydactyly%22%5BClinical%20Features%5D%20OR%2067454%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_327074"><div><strong>Short 4th metacarpal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>327074</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.">C1840309</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Short fourth metacarpal bone.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/327074">Feature record</a> | <a href="/medgen?term=%22Short%204th%20metacarpal%22%5BClinical%20Features%5D%20OR%20327074%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_400023"><div><strong>Short distal phalanx of the thumb</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400023</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.">C1862313</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Hypoplastic (short) distal phalanx of the thumb.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/400023">Feature record</a> | <a href="/medgen?term=%22Short%20distal%20phalanx%20of%20the%20thumb%22%5BClinical%20Features%5D%20OR%20400023%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_870912"><div><strong>Irregular ossification of hand bones</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870912</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.">C4025374</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/870912">Feature record</a> | <a href="/medgen?term=%22Irregular%20ossification%20of%20hand%20bones%22%5BClinical%20Features%5D%20OR%20870912%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_313330"><div><strong>Odontogenic keratocysts of the jaw</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>313330</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.">C1708604</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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||
<div class="spaceAbove">A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behavior.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/313330">Feature record</a> | <a href="/medgen?term=%22Odontogenic%20keratocysts%20of%20the%20jaw%22%5BClinical%20Features%5D%20OR%20313330%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_400021"><div><strong>Hamartomatous stomach polyps</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400021</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.">C1862304</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Polyp-like protrusions which are histologically hamartomas located in the stomach.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/400021">Feature record</a> | <a href="/medgen?term=%22Hamartomatous%20stomach%20polyps%22%5BClinical%20Features%5D%20OR%20400021%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9335"><div><strong>Hydrocephalus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9335</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.">C0020255</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/9335">Feature record</a> | <a href="/medgen?term=%22Hydrocephalus%22%5BClinical%20Features%5D%20OR%209335%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7517"><div><strong>Medulloblastoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7517</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.">C0025149</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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||
<div class="spaceAbove">Medulloblastoma is the most common brain tumor in children. It accounts for 16% of all pediatric brain tumors, and 40% of all cerebellar tumors in childhood are medulloblastoma. Medulloblastoma occurs bimodally, with peak incidences between 3 and 4 years and 8 and 9 years of age. Approximately 10 to 15% of medulloblastomas are diagnosed in infancy. Medulloblastoma accounts for less than 1% of central nervous system (CNS) tumors in adults, with highest incidence in adults 20 to 34 years of age. In 1 to 2% of patients, medulloblastoma is associated with Gorlin syndrome (109400), a nevoid basal carcinoma syndrome. Medulloblastoma also occurs in up to 40% of patients with Turcot syndrome (see 276300). Medulloblastoma is thought to arise from neural stem cell precursors in the granular cell layer of the cerebellum. Standard treatment includes surgery, chemotherapy, and, depending on the age of the patient, radiation therapy (Crawford et al., 2007). Millard and De Braganca (2016) reviewed the histopathologic variants and molecular subgroups of medulloblastoma. Pretreatment prognosis of medulloblastoma has been refined by histopathologic subclassification into the following variants: large-cell medulloblastoma, anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity (MBEN). The latter 2 groups have been shown to have a significantly superior prognosis as compared to the large cell and anaplastic groups in young children. At the molecular level, medulloblastomas have been categorized into the following subgroups: wingless (WNT), sonic hedgehog (SHH), group 3, and group 4. Each subgroup is characterized by a unique set of genetics and gene expression as well as demographic and clinical features.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/7517">Feature record</a> | <a href="/medgen?term=%22Medulloblastoma%22%5BClinical%20Features%5D%20OR%207517%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_38283"><div><strong>Spina bifida</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>38283</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.">C0080178</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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||
<div class="spaceAbove">Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/38283">Feature record</a> | <a href="/medgen?term=%22Spina%20bifida%22%5BClinical%20Features%5D%20OR%2038283%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_237237"><div><strong>Calcification of falx cerebri</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>237237</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.">C1397139</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">The presence of calcium deposition in the falx cerebri.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/237237">Feature record</a> | <a href="/medgen?term=%22Calcification%20of%20falx%20cerebri%22%5BClinical%20Features%5D%20OR%20237237%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</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.">C1854301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</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.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56291"><div><strong>Congenital elevation of scapula</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56291</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.">C0152438</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56291">Feature record</a> | <a href="/medgen?term=%22Congenital%20elevation%20of%20scapula%22%5BClinical%20Features%5D%20OR%2056291%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_67453"><div><strong>Frontal bossing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67453</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.">C0221354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67453">Feature record</a> | <a href="/medgen?term=%22Frontal%20bossing%22%5BClinical%20Features%5D%20OR%2067453%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120495"><div><strong>Vertebral wedging</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120495</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.">C0264112</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120495">Feature record</a> | <a href="/medgen?term=%22Vertebral%20wedging%22%5BClinical%20Features%5D%20OR%20120495%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82720"><div><strong>Hemivertebrae</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82720</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.">C0265677</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of one half of the vertebral body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82720">Feature record</a> | <a href="/medgen?term=%22Hemivertebrae%22%5BClinical%20Features%5D%20OR%2082720%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_83380"><div><strong>Supernumerary ribs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83380</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.">C0345397</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of more than 12 rib pairs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83380">Feature record</a> | <a href="/medgen?term=%22Supernumerary%20ribs%22%5BClinical%20Features%5D%20OR%2083380%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98094"><div><strong>Short ribs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98094</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.">C0426817</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced rib length.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98094">Feature record</a> | <a href="/medgen?term=%22Short%20ribs%22%5BClinical%20Features%5D%20OR%2098094%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_154361"><div><strong>Kyphoscoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154361</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.">C0575158</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154361">Feature record</a> | <a href="/medgen?term=%22Kyphoscoliosis%22%5BClinical%20Features%5D%20OR%20154361%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_346461"><div><strong>Down-sloping shoulders</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346461</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.">C1856872</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Low set, steeply sloping shoulders.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346461">Feature record</a> | <a href="/medgen?term=%22Down-sloping%20shoulders%22%5BClinical%20Features%5D%20OR%20346461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347377"><div><strong>Parietal bossing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347377</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.">C1857126</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Parietal bossing is a marked prominence in the parietal region.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347377">Feature record</a> | <a href="/medgen?term=%22Parietal%20bossing%22%5BClinical%20Features%5D%20OR%20347377%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_349830"><div><strong>Abnormal sternum morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349830</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.">C1860493</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An anomaly of the sternum, also known as the breastbone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349830">Feature record</a> | <a href="/medgen?term=%22Abnormal%20sternum%20morphology%22%5BClinical%20Features%5D%20OR%20349830%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_356654"><div><strong>Bridged sella turcica</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356654</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.">C1866959</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356654">Feature record</a> | <a href="/medgen?term=%22Bridged%20sella%20turcica%22%5BClinical%20Features%5D%20OR%20356654%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_745757"><div><strong>Macrocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>745757</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.">C2243051</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/745757">Feature record</a> | <a href="/medgen?term=%22Macrocephaly%22%5BClinical%20Features%5D%20OR%20745757%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_480139"><div><strong>Vertebral fusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480139</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.">C3278509</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A developmental defect leading to the union of two adjacent vertebrae.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/480139">Feature record</a> | <a href="/medgen?term=%22Vertebral%20fusion%22%5BClinical%20Features%5D%20OR%20480139%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1648338"><div><strong>Bifid ribs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648338</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.">C4721788</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648338">Feature record</a> | <a href="/medgen?term=%22Bifid%20ribs%22%5BClinical%20Features%5D%20OR%201648338%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_40327"><div><strong>Cleft upper lip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>40327</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.">C0008924</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/40327">Feature record</a> | <a href="/medgen?term=%22Cleft%20upper%20lip%22%5BClinical%20Features%5D%20OR%2040327%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56359"><div><strong>Orbital cyst</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56359</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.">C0155285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56359">Feature record</a> | <a href="/medgen?term=%22Orbital%20cyst%22%5BClinical%20Features%5D%20OR%2056359%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98316"><div><strong>Mandibular prognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98316</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.">C0399526</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal prominence of the chin related to increased length of the mandible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98316">Feature record</a> | <a href="/medgen?term=%22Mandibular%20prognathia%22%5BClinical%20Features%5D%20OR%2098316%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_335284"><div><strong>Coarse facial features</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335284</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.">C1845847</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335284">Feature record</a> | <a href="/medgen?term=%22Coarse%20facial%20features%22%5BClinical%20Features%5D%20OR%20335284%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341441"><div><strong>Wide nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341441</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.">C1849367</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased breadth of the nasal bridge (and with it, the nasal root).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341441">Feature record</a> | <a href="/medgen?term=%22Wide%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20341441%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_349223"><div><strong>Broad face</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349223</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.">C1859680</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349223">Feature record</a> | <a href="/medgen?term=%22Broad%20face%22%5BClinical%20Features%5D%20OR%20349223%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_756015"><div><strong>Cleft palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>756015</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.">C2981150</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/756015">Feature record</a> | <a href="/medgen?term=%22Cleft%20palate%22%5BClinical%20Features%5D%20OR%20756015%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11452"><div><strong>Skin tags</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11452</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.">C0037293</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11452">Feature record</a> | <a href="/medgen?term=%22Skin%20tags%22%5BClinical%20Features%5D%20OR%2011452%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87528"><div><strong>Milia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87528</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.">C0345996</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87528">Feature record</a> | <a href="/medgen?term=%22Milia%22%5BClinical%20Features%5D%20OR%2087528%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96101"><div><strong>Palmar pits</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96101</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.">C0423776</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96101">Feature record</a> | <a href="/medgen?term=%22Palmar%20pits%22%5BClinical%20Features%5D%20OR%2096101%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_338902"><div><strong>Plantar pits</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338902</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.">C1852301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338902">Feature record</a> | <a href="/medgen?term=%22Plantar%20pits%22%5BClinical%20Features%5D%20OR%20338902%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42224"><div><strong>Glaucoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42224</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.">C0017601</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42224">Feature record</a> | <a href="/medgen?term=%22Glaucoma%22%5BClinical%20Features%5D%20OR%2042224%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9373"><div><strong>Hypertelorism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9373</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.">C0020534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9373">Feature record</a> | <a href="/medgen?term=%22Hypertelorism%22%5BClinical%20Features%5D%20OR%209373%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10033"><div><strong>Microphthalmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10033</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.">C0026010</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/10033">Feature record</a> | <a href="/medgen?term=%22Microphthalmia%22%5BClinical%20Features%5D%20OR%2010033%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_21337"><div><strong>Strabismus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21337</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.">C0038379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/21337">Feature record</a> | <a href="/medgen?term=%22Strabismus%22%5BClinical%20Features%5D%20OR%2021337%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>
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||
<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="divPopper rprt" id="clin_116097"><div><strong>Iris coloboma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116097</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.">C0240063</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A coloboma of the iris.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116097">Feature record</a> | <a href="/medgen?term=%22Iris%20coloboma%22%5BClinical%20Features%5D%20OR%20116097%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">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_349223" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad face</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_756015" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleft palate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_40327" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleft upper lip</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335284" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coarse facial features</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98316" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibular prognathia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56359" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orbital cyst</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341441" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wide nasal bridge</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_67454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachydactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870912" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Irregular ossification of hand bones</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57774" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polydactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_327074" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short 4th metacarpal</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_400023" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short distal phalanx of the thumb</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_400021" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hamartomatous stomach polyps</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_313330" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Odontogenic keratocysts of the jaw</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42224" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glaucoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116097" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Iris coloboma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Strabismus</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_87528" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Milia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96101" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Palmar pits</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_338902" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Plantar pits</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11452" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Skin tags</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_349830" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal sternum morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1648338" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bifid ribs</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_356654" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bridged sella turcica</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56291" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital elevation of scapula</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Down-sloping shoulders</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontal bossing</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82720" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemivertebrae</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_154361" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kyphoscoliosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_745757" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrocephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347377" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Parietal bossing</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98094" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short ribs</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_83380" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Supernumerary ribs</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_480139" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertebral fusion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120495" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertebral wedging</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_237237" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Calcification of falx cerebri</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9335" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydrocephalus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7517" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Medulloblastoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_38283" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spina bifida</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_203335" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiac fibroma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_232027" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiac rhabdomyoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57706" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fibroma of ovary</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1648335" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ovarian carcinoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48445" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rhabdomyoma</a></span></li><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></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=C0004779[DISCUI]&test_type=Clinical" ref="ncbi_uid=2554">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=2554" target="_blank" href="/omim/109400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1151/" ref="ncbi_uid=2554">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=2554" ref="ncbi_uid=2554">V</a></span></span><span class="TLline">Gorlin syndrome</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN376810[DISCUI]&test_type=Clinical" ref="ncbi_uid=1054819">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1151/" ref="ncbi_uid=1054819">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1054819" ref="ncbi_uid=1054819">V</a></span></span><span class="TLline"><a href="/medgen/1054819" ref="tree=GTR&ncbi_uid=1054819&link_uid=1054819" title="View MedGen record for 'Basal cell nevus syndrome 1'">Basal cell nevus syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5830451[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1841087">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1841087" target="_blank" href="/omim/607035">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=1841087" ref="ncbi_uid=1841087">V</a></span></span><span class="TLline"><a href="/medgen/1841087" ref="tree=GTR&ncbi_uid=1841087&link_uid=1841087" title="View MedGen record for 'Basal cell nevus syndrome 2'">Basal cell nevus syndrome 2</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/272508" ref="tree=MeSH" title="MedGen record for Connective and Soft Tissue Disorder">Connective and Soft Tissue Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/6471" ref="tree=MeSH" title="MedGen record for Musculoskeletal system disorder">Musculoskeletal system disorder</a></span><ul><li><span class="TLline"><a href="/medgen/14182" ref="tree=MeSH" title="MedGen record for Disorder of bone">Disorder of bone</a></span><ul><li><span class="TLline"><a href="/medgen/2309" ref="tree=MeSH" title="MedGen record for Bone development disease">Bone development disease</a></span><ul><li><span class="matched_ds">Gorlin syndrome</span><ul><li><span class="TLline"><a href="/medgen/1054819" ref="tree=MeSH" title="MedGen record for Basal cell nevus syndrome 1">Basal cell nevus syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1841087" ref="tree=MeSH" title="MedGen record for Basal cell nevus syndrome 2">Basal cell nevus syndrome 2</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=207&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Gorlin 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/38403665">Digital pathology-based artificial intelligence models for differential diagnosis and prognosis of sporadic odontogenic keratocysts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cai X,
|
||
Zhang H,
|
||
Wang Y,
|
||
Zhang J,
|
||
Li T</span><br />
|
||
<span class="medgenPMjournal">Int J Oral Sci</span>
|
||
2024 Feb 26;16(1):16.
|
||
doi: 10.1038/s41368-024-00287-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38403665" target="_blank">38403665</a><a href="/pmc/articles/PMC10894880" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37604067">European consensus-based interdisciplinary guideline for diagnosis and treatment of basal cell carcinoma-update 2023.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peris K,
|
||
Fargnoli MC,
|
||
Kaufmann R,
|
||
Arenberger P,
|
||
Bastholt L,
|
||
Seguin NB,
|
||
Bataille V,
|
||
Brochez L,
|
||
Del Marmol V,
|
||
Dummer R,
|
||
Forsea AM,
|
||
Gaudy-Marqueste C,
|
||
Harwood CA,
|
||
Hauschild A,
|
||
Höller C,
|
||
Kandolf L,
|
||
Kellerners-Smeets NWJ,
|
||
Lallas A,
|
||
Leiter U,
|
||
Malvehy J,
|
||
Marinović B,
|
||
Mijuskovic Z,
|
||
Moreno-Ramirez D,
|
||
Nagore E,
|
||
Nathan P,
|
||
Stratigos AJ,
|
||
Stockfleth E,
|
||
Tagliaferri L,
|
||
Trakatelli M,
|
||
Vieira R,
|
||
Zalaudek I,
|
||
Garbe C;
|
||
EADO”A, EDF”B, ESTRO”C, UEMS”D and EADV”E</span><br />
|
||
<span class="medgenPMjournal">Eur J Cancer</span>
|
||
2023 Oct;192:113254.
|
||
Epub 2023 Jul 28
|
||
doi: 10.1016/j.ejca.2023.113254.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37604067" target="_blank">37604067</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34375441">A guideline for the clinical management of basal cell naevus syndrome (Gorlin-Goltz syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verkouteren BJA,
|
||
Cosgun B,
|
||
Reinders MGHC,
|
||
Kessler PAWK,
|
||
Vermeulen RJ,
|
||
Klaassens M,
|
||
Lambrechts S,
|
||
van Rheenen JR,
|
||
van Geel M,
|
||
Vreeburg M,
|
||
Mosterd K</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2022 Feb;186(2):215-226.
|
||
Epub 2021 Nov 8
|
||
doi: 10.1111/bjd.20700.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34375441" target="_blank">34375441</a><a href="/pmc/articles/PMC9298899" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22gorlin%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (31)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21304560">Clinical utility gene card for: Gorlin syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lo Muzio L,
|
||
Pastorino L,
|
||
Levanat S,
|
||
Musani V,
|
||
Situm M,
|
||
Scarra GB</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2011 Aug;19(8)
|
||
Epub 2011 Feb 9
|
||
doi: 10.1038/ejhg.2011.9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21304560" target="_blank">21304560</a><a href="/pmc/articles/PMC3172938" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></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 class="nl"><a target="_blank" href="/pubmed/26389210">Genetics of Breast and Gynecologic Cancers (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/26389210" target="_blank">26389210</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/37604067">European consensus-based interdisciplinary guideline for diagnosis and treatment of basal cell carcinoma-update 2023.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peris K,
|
||
Fargnoli MC,
|
||
Kaufmann R,
|
||
Arenberger P,
|
||
Bastholt L,
|
||
Seguin NB,
|
||
Bataille V,
|
||
Brochez L,
|
||
Del Marmol V,
|
||
Dummer R,
|
||
Forsea AM,
|
||
Gaudy-Marqueste C,
|
||
Harwood CA,
|
||
Hauschild A,
|
||
Höller C,
|
||
Kandolf L,
|
||
Kellerners-Smeets NWJ,
|
||
Lallas A,
|
||
Leiter U,
|
||
Malvehy J,
|
||
Marinović B,
|
||
Mijuskovic Z,
|
||
Moreno-Ramirez D,
|
||
Nagore E,
|
||
Nathan P,
|
||
Stratigos AJ,
|
||
Stockfleth E,
|
||
Tagliaferri L,
|
||
Trakatelli M,
|
||
Vieira R,
|
||
Zalaudek I,
|
||
Garbe C;
|
||
EADO”A, EDF”B, ESTRO”C, UEMS”D and EADV”E</span><br />
|
||
<span class="medgenPMjournal">Eur J Cancer</span>
|
||
2023 Oct;192:113254.
|
||
Epub 2023 Jul 28
|
||
doi: 10.1016/j.ejca.2023.113254.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37604067" target="_blank">37604067</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34801145">Neurosurgical Considerations of Neurocutaneous Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iyer RR,
|
||
Strahle JM,
|
||
Groves ML</span><br />
|
||
<span class="medgenPMjournal">Neurosurg Clin N Am</span>
|
||
2022 Jan;33(1):81-89.
|
||
Epub 2021 Oct 28
|
||
doi: 10.1016/j.nec.2021.09.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34801145" target="_blank">34801145</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26027634">SHH inhibitors for the treatment of medulloblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Samkari A,
|
||
White J,
|
||
Packer R</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Neurother</span>
|
||
2015;15(7):763-70.
|
||
Epub 2015 May 31
|
||
doi: 10.1586/14737175.2015.1052796.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26027634" target="_blank">26027634</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24602407">Gorlin syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh AK,
|
||
Lopez-Araujo A,
|
||
Katabathina VS</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2014 Jun;164(6):1501-1501.e1.
|
||
Epub 2014 Mar 3
|
||
doi: 10.1016/j.jpeds.2014.01.048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24602407" target="_blank">24602407</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24172774">Gorlin syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hooper JE,
|
||
Schofield J,
|
||
Soran H,
|
||
Whitehouse RW</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2013 Oct 30;2013
|
||
doi: 10.1136/bcr-2013-201045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24172774" target="_blank">24172774</a><a href="/pmc/articles/PMC3822074" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gorlin%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 (148)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37604067">European consensus-based interdisciplinary guideline for diagnosis and treatment of basal cell carcinoma-update 2023.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peris K,
|
||
Fargnoli MC,
|
||
Kaufmann R,
|
||
Arenberger P,
|
||
Bastholt L,
|
||
Seguin NB,
|
||
Bataille V,
|
||
Brochez L,
|
||
Del Marmol V,
|
||
Dummer R,
|
||
Forsea AM,
|
||
Gaudy-Marqueste C,
|
||
Harwood CA,
|
||
Hauschild A,
|
||
Höller C,
|
||
Kandolf L,
|
||
Kellerners-Smeets NWJ,
|
||
Lallas A,
|
||
Leiter U,
|
||
Malvehy J,
|
||
Marinović B,
|
||
Mijuskovic Z,
|
||
Moreno-Ramirez D,
|
||
Nagore E,
|
||
Nathan P,
|
||
Stratigos AJ,
|
||
Stockfleth E,
|
||
Tagliaferri L,
|
||
Trakatelli M,
|
||
Vieira R,
|
||
Zalaudek I,
|
||
Garbe C;
|
||
EADO”A, EDF”B, ESTRO”C, UEMS”D and EADV”E</span><br />
|
||
<span class="medgenPMjournal">Eur J Cancer</span>
|
||
2023 Oct;192:113254.
|
||
Epub 2023 Jul 28
|
||
doi: 10.1016/j.ejca.2023.113254.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37604067" target="_blank">37604067</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29373110">Gorlin Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palacios-Álvarez I,
|
||
González-Sarmiento R,
|
||
Fernández-López E</span><br />
|
||
<span class="medgenPMjournal">Actas Dermosifiliogr (Engl Ed)</span>
|
||
2018 Apr;109(3):207-217.
|
||
Epub 2018 Jan 17
|
||
doi: 10.1016/j.ad.2017.07.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29373110" target="_blank">29373110</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26381604">Meier-Gorlin syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Munnik SA,
|
||
Hoefsloot EH,
|
||
Roukema J,
|
||
Schoots J,
|
||
Knoers NV,
|
||
Brunner HG,
|
||
Jackson AP,
|
||
Bongers EM</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2015 Sep 17;10:114.
|
||
doi: 10.1186/s13023-015-0322-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26381604" target="_blank">26381604</a><a href="/pmc/articles/PMC4574002" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24602407">Gorlin syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh AK,
|
||
Lopez-Araujo A,
|
||
Katabathina VS</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2014 Jun;164(6):1501-1501.e1.
|
||
Epub 2014 Mar 3
|
||
doi: 10.1016/j.jpeds.2014.01.048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24602407" target="_blank">24602407</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24172774">Gorlin syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hooper JE,
|
||
Schofield J,
|
||
Soran H,
|
||
Whitehouse RW</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2013 Oct 30;2013
|
||
doi: 10.1136/bcr-2013-201045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24172774" target="_blank">24172774</a><a href="/pmc/articles/PMC3822074" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gorlin%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 (251)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38950707">Oral smoothened inhibitors for Gorlin syndrome: A clinical review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baczynski A,
|
||
Cahn B,
|
||
Worley B,
|
||
Haber R,
|
||
Alam M</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2024 Oct;91(4):706-711.
|
||
Epub 2024 Jun 29
|
||
doi: 10.1016/j.jaad.2024.06.047.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38950707" target="_blank">38950707</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32374193">Cohort analysis of safety and efficacy of vismodegib in Italian patients from the Phase II, multicenter STEVIE study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bossi P,
|
||
Peris K,
|
||
Calzavara-Pinton P,
|
||
Queirolo P,
|
||
Alfieri S,
|
||
Palla M,
|
||
Rossi MT,
|
||
Spagnolo F,
|
||
Tambone S,
|
||
Astolfi C,
|
||
Ascierto PA</span><br />
|
||
<span class="medgenPMjournal">Future Oncol</span>
|
||
2020 Jun;16(16):1091-1100.
|
||
Epub 2020 May 6
|
||
doi: 10.2217/fon-2019-0664.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32374193" target="_blank">32374193</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26550910">Photodynamic therapy for basal cell carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fargnoli MC,
|
||
Peris K</span><br />
|
||
<span class="medgenPMjournal">Future Oncol</span>
|
||
2015 Nov;11(22):2991-6.
|
||
Epub 2015 Nov 9
|
||
doi: 10.2217/fon.15.208.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26550910" target="_blank">26550910</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26027634">SHH inhibitors for the treatment of medulloblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Samkari A,
|
||
White J,
|
||
Packer R</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Neurother</span>
|
||
2015;15(7):763-70.
|
||
Epub 2015 May 31
|
||
doi: 10.1586/14737175.2015.1052796.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26027634" target="_blank">26027634</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25715811">Current landscape for treatment of advanced basal cell carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Foley P</span><br />
|
||
<span class="medgenPMjournal">Australas J Dermatol</span>
|
||
2015 Mar;56 Suppl 1:1-7.
|
||
doi: 10.1111/ajd.12319.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25715811" target="_blank">25715811</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gorlin%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 (62)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39276021">Clinicopathological and molecular spectrum of patients with germline SUFU mutations: A case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Dal M,
|
||
Martens-de Kemp SR,
|
||
Mooyaart AL,
|
||
Voogt W,
|
||
Wakkee M,
|
||
Damman J</span><br />
|
||
<span class="medgenPMjournal">J Cutan Pathol</span>
|
||
2024 Dec;51(12):980-986.
|
||
Epub 2024 Sep 14
|
||
doi: 10.1111/cup.14720.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39276021" target="_blank">39276021</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38403665">Digital pathology-based artificial intelligence models for differential diagnosis and prognosis of sporadic odontogenic keratocysts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cai X,
|
||
Zhang H,
|
||
Wang Y,
|
||
Zhang J,
|
||
Li T</span><br />
|
||
<span class="medgenPMjournal">Int J Oral Sci</span>
|
||
2024 Feb 26;16(1):16.
|
||
doi: 10.1038/s41368-024-00287-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38403665" target="_blank">38403665</a><a href="/pmc/articles/PMC10894880" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24602407">Gorlin syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh AK,
|
||
Lopez-Araujo A,
|
||
Katabathina VS</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2014 Jun;164(6):1501-1501.e1.
|
||
Epub 2014 Mar 3
|
||
doi: 10.1016/j.jpeds.2014.01.048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24602407" target="_blank">24602407</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15583598">Nevoid basal cell carcinoma syndrome or multiple hereditary infundibulocystic basal cell carcinoma syndrome?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crawford KM,
|
||
Kobayashi T</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2004 Dec;51(6):989-95.
|
||
doi: 10.1016/j.jaad.2004.07.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15583598" target="_blank">15583598</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1931625">The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Evans DG,
|
||
Farndon PA,
|
||
Burnell LD,
|
||
Gattamaneni HR,
|
||
Birch JM</span><br />
|
||
<span class="medgenPMjournal">Br J Cancer</span>
|
||
1991 Nov;64(5):959-61.
|
||
doi: 10.1038/bjc.1991.435.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1931625" target="_blank">1931625</a><a href="/pmc/articles/PMC1977448" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gorlin%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 (70)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39276021">Clinicopathological and molecular spectrum of patients with germline SUFU mutations: A case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Dal M,
|
||
Martens-de Kemp SR,
|
||
Mooyaart AL,
|
||
Voogt W,
|
||
Wakkee M,
|
||
Damman J</span><br />
|
||
<span class="medgenPMjournal">J Cutan Pathol</span>
|
||
2024 Dec;51(12):980-986.
|
||
Epub 2024 Sep 14
|
||
doi: 10.1111/cup.14720.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39276021" target="_blank">39276021</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37059840">The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nielsen-Dandoroff E,
|
||
Ruegg MSG,
|
||
Bicknell LS</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2023 Aug;31(8):859-868.
|
||
Epub 2023 Apr 14
|
||
doi: 10.1038/s41431-023-01359-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37059840" target="_blank">37059840</a><a href="/pmc/articles/PMC10400559" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36065537">Predictive factors of response to vismodegib: a French study of 61 patients with multiple or locally advanced basal cell carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Juzot C,
|
||
Isvy-Joubert A,
|
||
Khammari A,
|
||
Knol AC,
|
||
Nguyen JM,
|
||
Dreno B</span><br />
|
||
<span class="medgenPMjournal">Eur J Dermatol</span>
|
||
2022 May 1;32(3):401-407.
|
||
doi: 10.1684/ejd.2022.4264.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36065537" target="_blank">36065537</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36056180">Nervous system (NS) Tumors in Cancer Predisposition Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patil P,
|
||
Pencheva BB,
|
||
Patil VM,
|
||
Fangusaro J</span><br />
|
||
<span class="medgenPMjournal">Neurotherapeutics</span>
|
||
2022 Oct;19(6):1752-1771.
|
||
Epub 2022 Sep 2
|
||
doi: 10.1007/s13311-022-01277-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36056180" target="_blank">36056180</a><a href="/pmc/articles/PMC9723057" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31204176">Engineering Genetic Predisposition in Human Neuroepithelial Stem Cells Recapitulates Medulloblastoma Tumorigenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang M,
|
||
Tailor J,
|
||
Zhen Q,
|
||
Gillmor AH,
|
||
Miller ML,
|
||
Weishaupt H,
|
||
Chen J,
|
||
Zheng T,
|
||
Nash EK,
|
||
McHenry LK,
|
||
An Z,
|
||
Ye F,
|
||
Takashima Y,
|
||
Clarke J,
|
||
Ayetey H,
|
||
Cavalli FMG,
|
||
Luu B,
|
||
Moriarity BS,
|
||
Ilkhanizadeh S,
|
||
Chavez L,
|
||
Yu C,
|
||
Kurian KM,
|
||
Magnaldo T,
|
||
Sevenet N,
|
||
Koch P,
|
||
Pollard SM,
|
||
Dirks P,
|
||
Snyder MP,
|
||
Largaespada DA,
|
||
Cho YJ,
|
||
Phillips JJ,
|
||
Swartling FJ,
|
||
Morrissy AS,
|
||
Kool M,
|
||
Pfister SM,
|
||
Taylor MD,
|
||
Smith A,
|
||
Weiss WA</span><br />
|
||
<span class="medgenPMjournal">Cell Stem Cell</span>
|
||
2019 Sep 5;25(3):433-446.e7.
|
||
Epub 2019 Jun 13
|
||
doi: 10.1016/j.stem.2019.05.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31204176" target="_blank">31204176</a><a href="/pmc/articles/PMC6731167" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gorlin%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 (85)</a></div></div>
|
||
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|
||
|
||
<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/35535824">Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grossen A,
|
||
Gavula T,
|
||
Chrusciel D,
|
||
Evans A,
|
||
McNall-Knapp R,
|
||
Taylor A,
|
||
Fossey B,
|
||
Brakefield M,
|
||
Carter C,
|
||
Schwartz N,
|
||
Gross N,
|
||
Jea A,
|
||
Desai V</span><br />
|
||
<span class="medgenPMjournal">Neurosurg Focus</span>
|
||
2022 May;52(5):E2.
|
||
doi: 10.3171/2022.2.FOCUS21776.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35535824" target="_blank">35535824</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31789838">Fragmented Elastic Fibers in Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome) Without Focal Dermal Hypoplasia: Report of a Male Case and Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rohdenburg C,
|
||
Liersch J,
|
||
Kutsche K,
|
||
Schaller J</span><br />
|
||
<span class="medgenPMjournal">Am J Dermatopathol</span>
|
||
2020 Sep;42(9):653-661.
|
||
doi: 10.1097/DAD.0000000000001579.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31789838" target="_blank">31789838</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31336213">Ameloblastoma associated with syndromes: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atarbashi-Moghadam S,
|
||
Atarbashi-Moghadam F,
|
||
Sijanivandi S,
|
||
Mokhtari S</span><br />
|
||
<span class="medgenPMjournal">J Stomatol Oral Maxillofac Surg</span>
|
||
2020 Apr;121(2):146-149.
|
||
Epub 2019 Jul 20
|
||
doi: 10.1016/j.jormas.2019.07.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31336213" target="_blank">31336213</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26545201">Interventions for the treatment of keratocystic odontogenic tumours.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharif FN,
|
||
Oliver R,
|
||
Sweet C,
|
||
Sharif MO</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2015 Nov 5;2015(11):CD008464.
|
||
doi: 10.1002/14651858.CD008464.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26545201" target="_blank">26545201</a><a href="/pmc/articles/PMC7173719" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20824879">Interventions for the treatment of keratocystic odontogenic tumours (KCOT, odontogenic keratocysts (OKC)).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharif FNj,
|
||
Oliver R,
|
||
Sweet C,
|
||
Sharif MO</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2010 Sep 8;(9):CD008464.
|
||
doi: 10.1002/14651858.CD008464.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20824879" target="_blank">20824879</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gorlin%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 (5)</a></div></div>
|
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|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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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 id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" 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=C0004779%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (74)</a></li>
|
||
<li><a href="/gtr/tests?term=C0004779%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0004779%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0004779%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0004779%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (85)</a></li>
|
||
<li><a href="/gtr/tests?term=C0004779%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (20)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0004779%5bDISCUI%5d" target="_blank">See all (104)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS109400" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=377" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Gorlin%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22gorlin%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">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(%22Gorlin%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><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov//21304560/">EuroGenetest, 2011</a><div>Clinical utility gene card for: Gorlin syndrome.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/basal_cell_nevus_syndrome_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Gorlin%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="#" class="jig-ncbipopper results_settings" role="button" aria-expanded="false" aria-haspopup="true" data-jigconfig="triggerPosition : 'bottom center',destPosition : 'top center', hasArrow : false,openEvent : 'click',closeEvent : 'click',isTriggerElementCloseClick: false, addCloseButton : false, groupName: 'entrez_pg',destSelector : '#ghrPopup'">MedlinePlusGenetics (GHR)<span class="tgt_dark"></span></a></li><li><a href="https://rarediseases.info.nih.gov/diseases/7166/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul><div id="ghrPopup" aria-live="assertive" aria-hidden="true" style="display: none;" class="portlet_popup tabPopper ui-helper-reset ui-ncbipopper-wrapper ui-ncbipopper-basic"><ul class="column_list"><li><a target="_blank" href="https://medlineplus.gov/genetics/condition/9q223-microdeletion">9q223 microdeletion</a></li><li><a target="_blank" href="https://medlineplus.gov/genetics/condition/gorlin-syndrome">Gorlin syndrome</a></li></ul></div></div>
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