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<meta name="keywords" content="C0406612, congenital abnormality, eccl, eccl - encephalocraniocutaneous lipomatosis, encephalocraniocutaneous lipomatosis, encephalocraniocutaneous lipomatosis, somatic mosaic, fgfr1, fishman syndrome, haberland syndrome, 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="Encephalocraniocutaneous lipomatosis (ECCL) comprises a spectrum of predominantly congenital anomalies. In its typical form, ECCL is characterized by congenital anomalies of the skin (nevus psiloliparus, patchy or streaky non-scarring alopecia, subcutaneous lipomas in the frontotemporal region, focal skin aplasia or hypoplasia on the scalp, and/or small nodular skin tags on the eyelids or between the outer canthus and tragus), eye (choristoma), and brain (in particular intracranial and spinal lipomas). To a much lesser degree, the bones and the heart can be affected. About 40% of affected individuals have bilateral abnormalities of the skin or the eyes. About one third of affected individuals have normal cognitive development, another one third have mild developmental delay (DD) or intellectual disability (ID), and the final one third have severe or unspecified DD/ID. Half of individuals have seizures. Affected individuals are at an increased (i.e., above the general population) risk of developing brain tumors, particularly low-grade gliomas such as pilocytic astrocytomas. There is evidence that oculoectodermal syndrome (OES) may constitute a clinical spectrum with ECCL, with OES on the mild end and ECCL on the more severe end of the spectrum." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Encephalocraniocutaneous lipomatosis (Concept Id: C0406612)
- MedGen - NCBI</title>
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<!--
UID=140807
ConceptID=C0406612
-->
<!--imgCountBooks = 7--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (7)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK576966/bin/eccl-Image006.gif" src-large="/books/NBK576966/bin/eccl-Image006.jpg" /></a><br /><a href="/books/NBK576966/figure/eccl.F6/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK576966/bin/eccl-Image001.gif" src-large="/books/NBK576966/bin/eccl-Image001.jpg" /></a><br /><a href="/books/NBK576966/figure/eccl.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK576966/bin/eccl-Image007.gif" src-large="/books/NBK576966/bin/eccl-Image007.jpg" /></a><br /><a href="/books/NBK576966/figure/eccl.F7/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK576966/bin/eccl-Image004.gif" src-large="/books/NBK576966/bin/eccl-Image004.jpg" /></a><br /><a href="/books/NBK576966/figure/eccl.F4/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK576966/bin/eccl-Image002.gif" src-large="/books/NBK576966/bin/eccl-Image002.jpg" /></a><br /><a href="/books/NBK576966/figure/eccl.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK576966/bin/eccl-Image005.gif" src-large="/books/NBK576966/bin/eccl-Image005.jpg" /></a><br /><a href="/books/NBK576966/figure/eccl.F5/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK576966/bin/eccl-Image003.gif" src-large="/books/NBK576966/bin/eccl-Image003.jpg" /></a><br /><a href="/books/NBK576966/figure/eccl.F3/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Encephalocraniocutaneous lipomatosis<span class="h1sub">(ECCL)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140807</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C0406612</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>ECCL</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Encephalocraniocutaneous lipomatosis (238905009); ECCL - encephalocraniocutaneous lipomatosis (238905009)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms&#10;that cannot be identified in NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
Gene(s) directly associated with<br />
this condition or phenotype.</div></td>
<td><a target="_blank" title="FGFR1 - ID: 2260 - NCBI Gene" href="/gene/2260" class="medgenPMinfo">FGFR1</a> (8p11.23)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0013074" target="_blank">MONDO:0013074</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/613001" target="_blank">613001</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&amp;Expert=2396">ORPHA2396</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_101">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK576966" target="_blank">Encephalocraniocutaneous Lipomatosis</a></div><div>Encephalocraniocutaneous lipomatosis (ECCL) comprises a spectrum of predominantly congenital anomalies. In its typical form, ECCL is characterized by congenital anomalies of the skin (nevus psiloliparus, patchy or streaky non-scarring alopecia, subcutaneous lipomas in the frontotemporal region, focal skin aplasia or hypoplasia on the scalp, and/or small nodular skin tags on the eyelids or between the outer canthus and tragus), eye (choristoma), and brain (in particular intracranial and spinal lipomas). To a much lesser degree, the bones and the heart can be affected. About 40% of affected individuals have bilateral abnormalities of the skin or the eyes. About one third of affected individuals have normal cognitive development, another one third have mild developmental delay (DD) or intellectual disability (ID), and the final one third have severe or unspecified DD/ID. Half of individuals have seizures. Affected individuals are at an increased (i.e., above the general population) risk of developing brain tumors, particularly low-grade gliomas such as pilocytic astrocytomas. There is evidence that oculoectodermal syndrome (OES) may constitute a clinical spectrum with ECCL, with OES on the mild end and ECCL on the more severe end of the spectrum. [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/NBK576966#eccl.Summary" target="NBK576966">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK576966#eccl.Diagnosis" target="NBK576966">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK576966#eccl.Clinical_Characteristics" target="NBK576966">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK576966#eccl.Genetically_Related_Allelic_Disorde" target="NBK576966">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK576966#eccl.Differential_Diagnosis" target="NBK576966">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK576966#eccl.Management" target="NBK576966">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK576966#eccl.Genetic_Counseling" target="NBK576966">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK576966#eccl.Resources" target="NBK576966">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK576966#eccl.Molecular_Genetics" target="NBK576966">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK576966#eccl.Chapter_Notes" target="NBK576966">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK576966#eccl.References" target="NBK576966">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Ute Moog  |  William B Dobyns   <a href="/books/NBK576966" target="NBK576966" title="NCBI Bookshelf: Encephalocraniocutaneous Lipomatosis">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 />Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007).&#13;
The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, nonscarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).  <a target="_blank" href="http://www.omim.org/entry/613001">http://www.omim.org/entry/613001</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Encephalocraniocutaneous lipomatosis (ECCL) is a rare condition that primarily affects the brain, eyes, and skin of the head and face. Most of this condition's signs and symptoms are present from birth, and they vary widely among affected individuals.<br /><br />A hallmark feature of ECCL is a noncancerous tumor under the scalp covered by a smooth, hairless patch of skin. This type of tumor, called a nevus psiloliparus, is made up of fatty tissue. Some people with ECCL also have noncancerous tumors under the skin elsewhere on the head or face. Many have small flaps of skin called skin tags on the eyelids and around the eyes. Hair loss (alopecia), thin or missing patches of skin on the scalp (dermal hypoplasia or aplasia), and changes in skin coloring (pigmentation) are also possible.<br /><br />The most common eye abnormality in ECCL is a noncancerous growth called a choristoma. These growths can be present in one or both eyes and may affect vision.<br /><br />About two-thirds of people with ECCL have noncancerous fatty tumors inside the brain or around the spinal cord. These tumors are called intracranial lipomas and intraspinal lipomas, respectively. Affected individuals also have an increased risk of developing a type of brain cancer called a glioma. The brain and spinal cord abnormalities associated with ECCL can cause seizures, abnormal tensing of the muscles, and intellectual disability ranging from mild to profound. However, about one-third of affected individuals have normal intelligence.<br /><br />Other kinds of growths may also occur in people with ECCL, including noncancerous jaw tumors.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/encephalocraniocutaneous-lipomatosis">https://medlineplus.gov/genetics/condition/encephalocraniocutaneous-lipomatosis</a></div></div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_44173"><div><strong>Lipoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44173</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0023798</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/44173">Feature record</a> | <a href="/medgen?term=%22Lipoma%22%5BClinical%20Features%5D%20OR%2044173%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_234674"><div><strong>Subcutaneous lipoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>234674</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1403035</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">The presence of subcutaneous lipoma.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/234674">Feature record</a> | <a href="/medgen?term=%22Subcutaneous%20lipoma%22%5BClinical%20Features%5D%20OR%20234674%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_8192"><div><strong>Cryptorchidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8192</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0010417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/8192">Feature record</a> | <a href="/medgen?term=%22Cryptorchidism%22%5BClinical%20Features%5D%20OR%208192%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_42531"><div><strong>Hydronephrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42531</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0020295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Severe distention of the kidney with dilation of the renal pelvis and calices.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/42531">Feature record</a> | <a href="/medgen?term=%22Hydronephrosis%22%5BClinical%20Features%5D%20OR%2042531%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_67446"><div><strong>Pelvic kidney</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67446</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0221209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/67446">Feature record</a> | <a href="/medgen?term=%22Pelvic%20kidney%22%5BClinical%20Features%5D%20OR%2067446%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_6753"><div><strong>Atrial septal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6753</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0018817</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6753">Feature record</a> | <a href="/medgen?term=%22Atrial%20septal%20defect%22%5BClinical%20Features%5D%20OR%206753%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_42366"><div><strong>Ventricular septal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42366</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0018818</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/42366">Feature record</a> | <a href="/medgen?term=%22Ventricular%20septal%20defect%22%5BClinical%20Features%5D%20OR%2042366%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_90950"><div><strong>Subvalvular aortic stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90950</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0340375</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/90950">Feature record</a> | <a href="/medgen?term=%22Subvalvular%20aortic%20stenosis%22%5BClinical%20Features%5D%20OR%2090950%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_138014"><div><strong>Peripheral pulmonary artery stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138014</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0345030</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Stenosis of a peripheral branch of the pulmonary artery.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/138014">Feature record</a> | <a href="/medgen?term=%22Peripheral%20pulmonary%20artery%20stenosis%22%5BClinical%20Features%5D%20OR%20138014%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_438"><div><strong>Astrocytoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>438</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0004114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/438">Feature record</a> | <a href="/medgen?term=%22Astrocytoma%22%5BClinical%20Features%5D%20OR%20438%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)&#10;Click for more information.">C0020255</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<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>
<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_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_86860"><div><strong>Arachnoid cyst</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>86860</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0078981</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/86860">Feature record</a> | <a href="/medgen?term=%22Arachnoid%20cyst%22%5BClinical%20Features%5D%20OR%2086860%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_104498"><div><strong>Corpus callosum, agenesis of</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>104498</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0175754</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600).&#13; Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/104498">Feature record</a> | <a href="/medgen?term=%22Corpus%20callosum%2C%20agenesis%20of%22%5BClinical%20Features%5D%20OR%20104498%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_120578"><div><strong>Cerebellar hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120578</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0266470</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/120578">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20hypoplasia%22%5BClinical%20Features%5D%20OR%20120578%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_138005"><div><strong>Hypoplasia of the corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138005</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0344482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Underdevelopment of the corpus callosum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/138005">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20corpus%20callosum%22%5BClinical%20Features%5D%20OR%20138005%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_98129"><div><strong>Cortical dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98129</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0431380</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">The presence of developmental dysplasia of the cerebral cortex.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98129">Feature record</a> | <a href="/medgen?term=%22Cortical%20dysplasia%22%5BClinical%20Features%5D%20OR%2098129%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_867789"><div><strong>Multiple central nervous system lipomas</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867789</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4022180</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">The presence of multiple lipomas located in the central nervous system.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/867789">Feature record</a> | <a href="/medgen?term=%22Multiple%20central%20nervous%20system%20lipomas%22%5BClinical%20Features%5D%20OR%20867789%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_906044"><div><strong>Porencephalic cyst</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>906044</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4082172</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/906044">Feature record</a> | <a href="/medgen?term=%22Porencephalic%20cyst%22%5BClinical%20Features%5D%20OR%20906044%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_419183"><div><strong>Dandy-Walker malformation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419183</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2931867</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/419183">Feature record</a> | <a href="/medgen?term=%22Dandy-Walker%20malformation%22%5BClinical%20Features%5D%20OR%20419183%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_141737"><div><strong>Eyelid coloboma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141737</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0521573</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A short discontinuity of the margin of the lower or upper eyelid.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/141737">Feature record</a> | <a href="/medgen?term=%22Eyelid%20coloboma%22%5BClinical%20Features%5D%20OR%20141737%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_7982"><div><strong>Alopecia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7982</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0002170</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A noncongenital process of hair loss, which may progress to partial or complete baldness.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7982">Feature record</a> | <a href="/medgen?term=%22Alopecia%22%5BClinical%20Features%5D%20OR%207982%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_480288"><div><strong>Linear hyperpigmentation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480288</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3278658</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/480288">Feature record</a> | <a href="/medgen?term=%22Linear%20hyperpigmentation%22%5BClinical%20Features%5D%20OR%20480288%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1841866"><div><strong>Nevus psiloliparus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841866</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5826500</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">Nevus psiloliparus is a rare fatty tissue nevus that is a marker for encephalocraniocutaneous lipomatosis, a neurocutaneous syndrome with ocular and central nervous system anomalies. Clinically, nevus psiloliparus is often described as a congenital alopecia and appears as an irregularly shaped, circumscribed area of alopecia on the scalp. Histopathology demonstrates a near-complete absence of mature hair follicles with preservation of arrector pili muscles and mature adipocytes within the dermis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1841866">Feature record</a> | <a href="/medgen?term=%22Nevus%20psiloliparus%22%5BClinical%20Features%5D%20OR%201841866%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)&#10;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>
<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>
<div class="divPopper rprt" id="clin_91029"><div><strong>Hypoplasia of the iris</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91029</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0344539</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Congenital underdevelopment of the iris.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/91029">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20iris%22%5BClinical%20Features%5D%20OR%2091029%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_344000"><div><strong>Sclerocornea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344000</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1853235</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/344000">Feature record</a> | <a href="/medgen?term=%22Sclerocornea%22%5BClinical%20Features%5D%20OR%20344000%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_401267"><div><strong>Limbal dermoid</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401267</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1867616</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/401267">Feature record</a> | <a href="/medgen?term=%22Limbal%20dermoid%22%5BClinical%20Features%5D%20OR%20401267%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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_141737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eyelid coloboma</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial septal defect</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_138014" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripheral pulmonary artery stenosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_90950" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Subvalvular aortic stenosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular septal defect</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_91029" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the iris</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_401267" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Limbal dermoid</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_344000" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sclerocornea</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8192" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cryptorchidism</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42531" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydronephrosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67446" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pelvic kidney</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_7982" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alopecia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_480288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Linear hyperpigmentation</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1841866" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nevus psiloliparus</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_419183" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dandy-Walker malformation</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_86860" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arachnoid cyst</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_438" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Astrocytoma</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120578" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar hypoplasia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_104498" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corpus callosum, agenesis of</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98129" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cortical dysplasia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_138005" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the corpus callosum</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867789" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple central nervous system lipomas</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_906044" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Porencephalic cyst</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li></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_44173" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lipoma</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_234674" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Subcutaneous lipoma</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=C0406612[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=140807">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=140807" target="_blank" href="/omim/136350">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK576966/" ref="ncbi_uid=140807">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=140807" ref="ncbi_uid=140807">V</a></span></span><span class="TLline">Encephalocraniocutaneous lipomatosis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842339" ref="tree=MeSH" title="MedGen record for Inherited skin tumor">Inherited skin tumor</a></span><ul><li><span class="matched_ds">Encephalocraniocutaneous lipomatosis</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&amp;data_id=156&amp;PatId=2225&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Encephalocraniocutaneous lipomatosis</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/35445792">Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lehalle D,
Bruel AL,
Vitobello A,
Denommé-Pichon AS,
Duffourd Y,
Assoum M,
Amiel J,
Baujat G,
Bessieres B,
Bigoni S,
Burglen L,
Captier G,
Dard R,
Edery P,
Fortunato F,
Geneviève D,
Goldenberg A,
Guibaud L,
Héron D,
Holder-Espinasse M,
Lederer D,
Lopez Grondona F,
Grotto S,
Marlin S,
Nadeau G,
Picard A,
Rossi M,
Roume J,
Sanlaville D,
Saugier-Veber P,
Triau S,
Valenzuela Palafoll MI,
Vanlerberghe C,
Van Maldergem L,
Vezain M,
Vincent-Delorme C,
Zivi E,
Thevenon J,
Vabres P,
Thauvin-Robinet C,
Callier P,
Faivre L</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2022 Jul;188(7):2036-2047.
Epub 2022 Apr 21
doi: 10.1002/ajmg.a.62739.
<span class="bold">PMID: </span><a href="/pubmed/35445792" target="_blank">35445792</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22encephalocraniocutaneous%20lipomatosis%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 (1)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/39622606">Review of encephalocraniocutaneous lipomatosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lopes FCPS,
Schroeder C,
Patel B,
Levy ML</span><br />
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
2024 Dec;52:101166.
Epub 2024 Nov 6
doi: 10.1016/j.spen.2024.101166.
<span class="bold">PMID: </span><a href="/pubmed/39622606" target="_blank">39622606</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38290824">Mosaic RASopathies concept: different skin lesions, same systemic manifestations?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Morren MA,
Fodstad H,
Brems H,
Bedoni N,
Guenova E,
Jacot-Guillarmod M,
Busiah K,
Giuliano F,
Gilliet M,
Atallah I</span><br />
<span class="medgenPMjournal">J Med Genet</span>
2024 Apr 19;61(5):411-419.
doi: 10.1136/jmg-2023-109306.
<span class="bold">PMID: </span><a href="/pubmed/38290824" target="_blank">38290824</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38217730">Navigating the complexities of encephalocraniocutaneous lipomatosis: a case series and review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pavanello M,
Piro L,
Roggero A,
Rossi A,
Cataldi M,
Piatelli G</span><br />
<span class="medgenPMjournal">Childs Nerv Syst</span>
2024 Apr;40(4):1251-1258.
Epub 2024 Jan 13
doi: 10.1007/s00381-024-06279-x.
<span class="bold">PMID: </span><a href="/pubmed/38217730" target="_blank">38217730</a><a href="/pmc/articles/PMC10972915" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32972603">RASopathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jafry M,
Sidbury R</span><br />
<span class="medgenPMjournal">Clin Dermatol</span>
2020 Jul-Aug;38(4):455-461.
Epub 2020 Apr 1
doi: 10.1016/j.clindermatol.2020.03.010.
<span class="bold">PMID: </span><a href="/pubmed/32972603" target="_blank">32972603</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29683947">Encephalocraniocutaneous Lipomatosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bavle A,
Shah R,
Gross N,
Gavula T,
Ruiz-Elizalde A,
Wierenga K,
McNall-Knapp R</span><br />
<span class="medgenPMjournal">J Pediatr Hematol Oncol</span>
2018 Oct;40(7):553-554.
doi: 10.1097/MPH.0000000000001170.
<span class="bold">PMID: </span><a href="/pubmed/29683947" target="_blank">29683947</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Encephalocraniocutaneous%20lipomatosis%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 (20)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39622606">Review of encephalocraniocutaneous lipomatosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lopes FCPS,
Schroeder C,
Patel B,
Levy ML</span><br />
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
2024 Dec;52:101166.
Epub 2024 Nov 6
doi: 10.1016/j.spen.2024.101166.
<span class="bold">PMID: </span><a href="/pubmed/39622606" target="_blank">39622606</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34475128">Clinical and Neuroimaging Features of Encephalocraniocutaneous Lipomatosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">de Moraes MPM,
Ferreira de Abrantes F,
Tonholo Silva TY,
Pedroso JL,
Marussi VHR,
Meneses A,
Barsottini OGP</span><br />
<span class="medgenPMjournal">Neurology</span>
2021 Oct 19;97(16):785-786.
Epub 2021 Sep 2
doi: 10.1212/WNL.0000000000012704.
<span class="bold">PMID: </span><a href="/pubmed/34475128" target="_blank">34475128</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32972603">RASopathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jafry M,
Sidbury R</span><br />
<span class="medgenPMjournal">Clin Dermatol</span>
2020 Jul-Aug;38(4):455-461.
Epub 2020 Apr 1
doi: 10.1016/j.clindermatol.2020.03.010.
<span class="bold">PMID: </span><a href="/pubmed/32972603" target="_blank">32972603</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29683947">Encephalocraniocutaneous Lipomatosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bavle A,
Shah R,
Gross N,
Gavula T,
Ruiz-Elizalde A,
Wierenga K,
McNall-Knapp R</span><br />
<span class="medgenPMjournal">J Pediatr Hematol Oncol</span>
2018 Oct;40(7):553-554.
doi: 10.1097/MPH.0000000000001170.
<span class="bold">PMID: </span><a href="/pubmed/29683947" target="_blank">29683947</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26564086">Encephalocraniocutaneous lipomatosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Levy ML,
Massey C</span><br />
<span class="medgenPMjournal">Handb Clin Neurol</span>
2015;132:265-9.
doi: 10.1016/B978-0-444-62702-5.00019-6.
<span class="bold">PMID: </span><a href="/pubmed/26564086" target="_blank">26564086</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Encephalocraniocutaneous%20lipomatosis%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 (87)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/30428736">Up-regulation of fibroblast growth factor receptor 1 due to prenatal tobacco exposure can lead to developmental defects in new born.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Saxena P,
Pradhan D,
Verma R,
Kumar SN,
Deval R,
Kumar Jain A</span><br />
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
2020 May;33(10):1732-1743.
Epub 2018 Nov 14
doi: 10.1080/14767058.2018.1529164.
<span class="bold">PMID: </span><a href="/pubmed/30428736" target="_blank">30428736</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29683947">Encephalocraniocutaneous Lipomatosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bavle A,
Shah R,
Gross N,
Gavula T,
Ruiz-Elizalde A,
Wierenga K,
McNall-Knapp R</span><br />
<span class="medgenPMjournal">J Pediatr Hematol Oncol</span>
2018 Oct;40(7):553-554.
doi: 10.1097/MPH.0000000000001170.
<span class="bold">PMID: </span><a href="/pubmed/29683947" target="_blank">29683947</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28707961">Encephalocraniocutaneous lipomatosis: A case report with review of literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Siddiqui S,
Naaz S,
Ahmad M,
Khan ZA,
Wahab S,
Rashid BA</span><br />
<span class="medgenPMjournal">Neuroradiol J</span>
2017 Dec;30(6):578-582.
Epub 2017 Jul 14
doi: 10.1177/1971400917693638.
<span class="bold">PMID: </span><a href="/pubmed/28707961" target="_blank">28707961</a><a href="/pmc/articles/PMC5703133" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Encephalocraniocutaneous%20lipomatosis%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39622606">Review of encephalocraniocutaneous lipomatosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lopes FCPS,
Schroeder C,
Patel B,
Levy ML</span><br />
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
2024 Dec;52:101166.
Epub 2024 Nov 6
doi: 10.1016/j.spen.2024.101166.
<span class="bold">PMID: </span><a href="/pubmed/39622606" target="_blank">39622606</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24384349">Encephalocraniocutaneous Lipomatosis: A Case With Long Term Follow-up.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bauld H,
McNeely PD</span><br />
<span class="medgenPMjournal">Can J Neurol Sci</span>
2014 Jan;41(1):106-8.
doi: 10.1017/s0317167100016383.
<span class="bold">PMID: </span><a href="/pubmed/24384349" target="_blank">24384349</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21882925">Encephalocraniocutaneous lipomatosis: a review of its clinical pathology and neurosurgical indications.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ayer RE,
Zouros A</span><br />
<span class="medgenPMjournal">J Neurosurg Pediatr</span>
2011 Sep;8(3):316-20.
doi: 10.3171/2011.6.PEDS11138.
<span class="bold">PMID: </span><a href="/pubmed/21882925" target="_blank">21882925</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16523517">Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: blind men and an elephant or separate syndromes?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hunter AG</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2006 Apr 1;140(7):709-26.
doi: 10.1002/ajmg.a.31149.
<span class="bold">PMID: </span><a href="/pubmed/16523517" target="_blank">16523517</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12362260">Encephalocraniocutaneous lipomatosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gawel J,
Schwartz RA,
Józwiak S</span><br />
<span class="medgenPMjournal">J Cutan Med Surg</span>
2003 Jan-Feb;7(1):61-5.
Epub 2002 Oct 9
doi: 10.1007/s10227-002-1142-x.
<span class="bold">PMID: </span><a href="/pubmed/12362260" target="_blank">12362260</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Encephalocraniocutaneous%20lipomatosis%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 (11)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/24070220">Encephalocraniocutaneous lipomatosis: congenital alopecia treatment in a rare neurocutaneous syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Borgognoni L,
Brandani P,
Reali F,
Gerlini G,
Sestini S,
Maio V,
Reali UM</span><br />
<span class="medgenPMjournal">J Plast Surg Hand Surg</span>
2014 Dec;48(6):449-51.
Epub 2013 Sep 27
doi: 10.3109/2000656X.2013.842293.
<span class="bold">PMID: </span><a href="/pubmed/24070220" target="_blank">24070220</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15249907">Overlap among neurocutaneous syndromes. Observations on encephalocraniocutaneous lipomatosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cultrera F,
Guarnera F,
Giardina MC</span><br />
<span class="medgenPMjournal">Minerva Pediatr</span>
2004 Apr;56(2):219-22.
<span class="bold">PMID: </span><a href="/pubmed/15249907" target="_blank">15249907</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10659502">Encephalocraniocutaneous lipomatosis: a new case report and review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Romiti R,
Rengifo JA,
Arnone M,
Sotto MN,
Valente NY,
Jansen T</span><br />
<span class="medgenPMjournal">J Dermatol</span>
1999 Dec;26(12):808-12.
doi: 10.1111/j.1346-8138.1999.tb02097.x.
<span class="bold">PMID: </span><a href="/pubmed/10659502" target="_blank">10659502</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9693178">Nevus psiloliparus: a distinct fatty tissue nevus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Happle R,
Küster W</span><br />
<span class="medgenPMjournal">Dermatology</span>
1998;197(1):6-10.
doi: 10.1159/000017968.
<span class="bold">PMID: </span><a href="/pubmed/9693178" target="_blank">9693178</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1552148">Epidermal nevus syndrome: subgroup with neuronal migration defects.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">el-Shanti H,
Bell WE,
Waziri MH</span><br />
<span class="medgenPMjournal">J Child Neurol</span>
1992 Jan;7(1):29-34.
doi: 10.1177/088307389200700105.
<span class="bold">PMID: </span><a href="/pubmed/1552148" target="_blank">1552148</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Encephalocraniocutaneous%20lipomatosis%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 (9)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0406612%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (10)</a></li>
<li><a href="/gtr/tests?term=C0406612%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (17)</a></li>
<li><a href="/gtr/tests?term=C0406612%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0406612%5bDISCUI%5d" target="_blank">See all (22)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=613001" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2396" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Encephalocraniocutaneous%20lipomatosis" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22encephalocraniocutaneous%20lipomatosis%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></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=136350" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2260[geneid]" target="_blank">View FGFR1 variations in ClinVar</a></li><li><a href="/nuccore/188219627" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=613001" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<p class="address_footer text-white">National Library of Medicine<br />
<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
Bethesda, MD 20894</a></p>
</div>
<div class="col-lg-3 col-12 centered-lg">
<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
</div>
<div class="col-lg-3 col-12 centered-lg">
<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
</div>
</div>
<div class="row">
<div class="col-lg-12 centered-lg">
<nav class="bottom-links">
<ul class="mt-3">
<li>
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
</li>
<li>
<a class="text-white" href="https://www.nih.gov/">NIH</a>
</li>
<li>
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
</li>
<li>
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
</li>
</ul>
</nav>
</div>
</div>
</div>
</section>
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