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<meta name="keywords" content="C4225421, disease or syndrome, linear skin defects with cardiomyopathy and other congenital anomalies, linear skin defects with multiple congenital anomalies 3, linear skin defects with multiple congenital anomalies 3, x-linked dominant, linear skin defects with multiple congenital anomalies type 3, lsdmca3, microphthalmia with linear skin defects syndrome caused by mutation in ndufb11, ndufb11, ndufb11 microphthalmia with linear skin defects 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="Microphthalmia with linear skin defects (MLS) syndrome is characterized by unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects, usually involving the face and neck, which are present at birth and heal with age, leaving minimal residual scarring. Other findings can include a wide variety of other ocular abnormalities (e.g., corneal anomalies, orbital cysts, cataracts), central nervous system involvement (e.g., structural anomalies, developmental delay, infantile seizures), cardiac concerns (e.g., hypertrophic or oncocytic cardiomyopathy, atrial or ventricular septal defects, arrhythmias), short stature, diaphragmatic hernia, nail dystrophy, hearing impairment, and genitourinary malformations. Inter- and intrafamilial variability is described." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Linear skin defects with multiple congenital anomalies 3 (Concept Id: C4225421)
- MedGen - NCBI</title>
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<!--
UID=906997
ConceptID=C4225421
-->
<!--imgCountBooks = 3--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (3)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK7041/bin/microph-lsd-Image002.gif" src-large="/books/NBK7041/bin/microph-lsd-Image002.jpg" /></a><br /><a href="/books/NBK7041/figure/microph-lsd.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK7041/bin/microph-lsd-Image001.gif" src-large="/books/NBK7041/bin/microph-lsd-Image001.jpg" /></a><br /><a href="/books/NBK7041/figure/microph-lsd.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK7041/bin/microph-lsd-Image003.gif" src-large="/books/NBK7041/bin/microph-lsd-Image003.jpg" /></a><br /><a href="/books/NBK7041/figure/microph-lsd.F3/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Linear skin defects with multiple congenital anomalies 3<span class="h1sub">(LSDMCA3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>906997</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.">C4225421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>LINEAR SKIN DEFECTS WITH CARDIOMYOPATHY AND OTHER CONGENITAL ANOMALIES; LSDMCA3</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="NDUFB11 - ID: 54539 - NCBI Gene" href="/gene/54539" class="medgenPMinfo">NDUFB11</a> (Xp11.3)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0010494" target="_blank">MONDO:0010494</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/300952" target="_blank">300952</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/NBK7041" target="_blank">Microphthalmia with Linear Skin Defects Syndrome</a></div><div>Microphthalmia with linear skin defects (MLS) syndrome is characterized by unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects, usually involving the face and neck, which are present at birth and heal with age, leaving minimal residual scarring. Other findings can include a wide variety of other ocular abnormalities (e.g., corneal anomalies, orbital cysts, cataracts), central nervous system involvement (e.g., structural anomalies, developmental delay, infantile seizures), cardiac concerns (e.g., hypertrophic or oncocytic cardiomyopathy, atrial or ventricular septal defects, arrhythmias), short stature, diaphragmatic hernia, nail dystrophy, hearing impairment, and genitourinary malformations. Inter- and intrafamilial variability is described. [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/NBK7041#microph-lsd.Summary" target="NBK7041">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK7041#microph-lsd.Diagnosis" target="NBK7041">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK7041#microph-lsd.Clinical_Characteristics" target="NBK7041">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK7041#microph-lsd.Genetically_Related_Allelic" target="NBK7041">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK7041#microph-lsd.Differential_Diagnosis" target="NBK7041">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK7041#microph-lsd.Management" target="NBK7041">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK7041#microph-lsd.Genetic_Counseling" target="NBK7041">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK7041#microph-lsd.Resources" target="NBK7041">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK7041#microph-lsd.Molecular_Genetics" target="NBK7041">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK7041#microph-lsd.References" target="NBK7041">References</a>  |  <a class="medgenPMinfo" href="/books/NBK7041#microph-lsd.Chapter_Notes" target="NBK7041">Chapter Notes</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Manuela Morleo  |  Brunella Franco   <a href="/books/NBK7041" target="NBK7041" title="NCBI Bookshelf: Microphthalmia with Linear Skin Defects 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_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Linear skin defects with multiple congenital anomalies-3 (LSDMCA3) is an X-linked dominant disorder characterized by linear skin defects mostly on the face and neck, ocular anomalies without microphthalmia or sclerocornea, and early-onset cardiomyopathy. Severe brain anomalies and seizures have been reported (Van Rahden et al., 2015).&#13;
For a discussion of genetic heterogeneity of linear skin defects with multiple congenital anomalies, see LSDMCA1 (309801).&#13;
A hemizygous missense mutation in the NDUFB11 gene (300403.0003) has been found in 1 male patient with mitochondrial complex I deficiency (see 252010). That patient died in infancy (Kohda et al., 2016).  <a target="_blank" href="http://www.omim.org/entry/300952">http://www.omim.org/entry/300952</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_2880"><div><strong>Primary dilated cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2880</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.">C0007193</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2880">Feature record</a> | <a href="/medgen?term=%22Primary%20dilated%20cardiomyopathy%22%5BClinical%20Features%5D%20OR%202880%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_5456"><div><strong>Cardiac arrest</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5456</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.">C0018790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abrupt loss of heart function.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/5456">Feature record</a> | <a href="/medgen?term=%22Cardiac%20arrest%22%5BClinical%20Features%5D%20OR%205456%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_21844"><div><strong>Ventricular fibrillation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21844</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.">C0042510</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/21844">Feature record</a> | <a href="/medgen?term=%22Ventricular%20fibrillation%22%5BClinical%20Features%5D%20OR%2021844%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_12068"><div><strong>Ventricular tachycardia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12068</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.">C0042514</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/12068">Feature record</a> | <a href="/medgen?term=%22Ventricular%20tachycardia%22%5BClinical%20Features%5D%20OR%2012068%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_310844"><div><strong>Histiocytoid cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>310844</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.">C1708371</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Histiocytoid cardiomyopathy, which was initially described by Voth (1962), goes by various names, including infantile xanthomatous cardiomyopathy (MacMahon, 1971), focal lipid cardiomyopathy (Bove and Schwartz, 1973), oncocytic cardiomyopathy (Silver et al., 1980), infantile cardiomyopathy with histiocytoid change (Ferrans et al., 1976), and foamy myocardial transformation of infancy (Yatani et al., 1988). The disorder is a rare but distinctive entity of infancy and childhood characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium. It usually affects children younger than 2 years of age, with a clear predominance of females over males. Infants present with dysrhythmia or cardiac arrest, and the clinical course is usually fulminant, sometimes simulating sudden infant death syndrome (Andreu et al., 2000).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/310844">Feature record</a> | <a href="/medgen?term=%22Histiocytoid%20cardiomyopathy%22%5BClinical%20Features%5D%20OR%20310844%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_746019"><div><strong>Failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>746019</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.">C2315100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/746019">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20746019%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_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_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_383904"><div><strong>Lateral ventricle dilatation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383904</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.">C1856409</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/383904">Feature record</a> | <a href="/medgen?term=%22Lateral%20ventricle%20dilatation%22%5BClinical%20Features%5D%20OR%20383904%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</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.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_342959"><div><strong>Axial hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342959</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.">C1853743</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/342959">Feature record</a> | <a href="/medgen?term=%22Axial%20hypotonia%22%5BClinical%20Features%5D%20OR%20342959%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_576318"><div><strong>Lacrimal duct atresia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>576318</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.">C0344511</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/576318">Feature record</a> | <a href="/medgen?term=%22Lacrimal%20duct%20atresia%22%5BClinical%20Features%5D%20OR%20576318%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_341477"><div><strong>Delayed eruption of primary teeth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341477</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.">C1849538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Delayed tooth eruption affecting the primary dentition.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341477">Feature record</a> | <a href="/medgen?term=%22Delayed%20eruption%20of%20primary%20teeth%22%5BClinical%20Features%5D%20OR%20341477%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_400951"><div><strong>Hyperpigmented streaks</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400951</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.">C1866245</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/400951">Feature record</a> | <a href="/medgen?term=%22Hyperpigmented%20streaks%22%5BClinical%20Features%5D%20OR%20400951%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_870442"><div><strong>Asymmetric, linear skin defects</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870442</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.">C4024888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/870442">Feature record</a> | <a href="/medgen?term=%22Asymmetric%2C%20linear%20skin%20defects%22%5BClinical%20Features%5D%20OR%20870442%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_90975"><div><strong>Thyroid C cell hyperplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90975</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.">C0342190</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal growth of parafollicular (C-cells) cells.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/90975">Feature record</a> | <a href="/medgen?term=%22Thyroid%20C%20cell%20hyperplasia%22%5BClinical%20Features%5D%20OR%2090975%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_44558"><div><strong>Myopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44558</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.">C0027092</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/44558">Feature record</a> | <a href="/medgen?term=%22Myopia%22%5BClinical%20Features%5D%20OR%2044558%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</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.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div>
<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)&#10;Click for more information.">C0038379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<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>
<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_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="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_341477" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed eruption of primary teeth</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_576318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lacrimal duct atresia</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_5456" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiac arrest</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_310844" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Histiocytoid cardiomyopathy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2880" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary dilated cardiomyopathy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21844" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular fibrillation</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12068" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular tachycardia</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_90975" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thyroid C cell hyperplasia</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_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_44558" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</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><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_870442" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Asymmetric, linear skin defects</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_400951" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperpigmented streaks</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_342959" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Axial hypotonia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</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_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_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_383904" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lateral ventricle dilatation</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">Growth abnormality</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_746019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive</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></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="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/946288" ref="tree=GTR&amp;ncbi_uid=946288&amp;link_uid=946288" title="View MedGen record for 'Linear skin defects with multiple congenital anomalies'">Linear skin defects with multiple congenital anomalies</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0796070[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=163210">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=163210" target="_blank" href="/omim/300056">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7041/" ref="ncbi_uid=163210">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=163210" ref="ncbi_uid=163210">V</a></span></span><span class="TLline"><a href="/medgen/163210" ref="tree=GTR&amp;ncbi_uid=163210&amp;link_uid=163210" title="View MedGen record for 'Linear skin defects with multiple congenital anomalies 1'">Linear skin defects with multiple congenital anomalies 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=C3550921[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=763835">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=763835" target="_blank" href="/omim/300885">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7041/" ref="ncbi_uid=763835">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=763835" ref="ncbi_uid=763835">V</a></span></span><span class="TLline"><a href="/medgen/763835" ref="tree=GTR&amp;ncbi_uid=763835&amp;link_uid=763835" title="View MedGen record for 'Linear skin defects with multiple congenital anomalies 2'">Linear skin defects with multiple congenital anomalies 2</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4225421[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=906997">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=906997" target="_blank" href="/omim/300403">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7041/" ref="ncbi_uid=906997">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=906997" ref="ncbi_uid=906997">V</a></span></span><span class="TLline">Linear skin defects with multiple congenital anomalies 3</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/1843028" ref="tree=MeSH" title="MedGen record for Malformation syndrome with skin/mucosae involvement">Malformation syndrome with skin/mucosae involvement</a></span><ul><li><span class="TLline"><a href="/medgen/946288" ref="tree=MeSH" title="MedGen record for Linear skin defects with multiple congenital anomalies">Linear skin defects with multiple congenital anomalies</a></span><ul><li><span class="matched_ds">Linear skin defects with multiple congenital anomalies 3</span></li></ul></li></ul></li></ul></div></div></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/38379863">Continuous glucose monitoring and advanced glycation endproducts for prediction of clinical outcomes and development of cystic fibrosis-related diabetes in adults with CF.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Scully KJ,
Brenner L,
Martin K,
Ruazol M,
Sawicki GS,
Uluer A,
Neuringer I,
Yonker LM,
Sicilian L,
Putman MS</span><br />
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
2024;15:1293709.
Epub 2024 Feb 6
doi: 10.3389/fendo.2024.1293709.
<span class="bold">PMID: </span><a href="/pubmed/38379863" target="_blank">38379863</a><a href="/pmc/articles/PMC10876871" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36178237">Pigmentary anomaly caused by mosaic 3q22.2q29 duplication.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Martinez-Falero BS,
Koutalopoulou A,
Douglas AGL,
Kharbanda M,
Collinson MN,
Lotery A,
Lotery H</span><br />
<span class="medgenPMjournal">Clin Exp Dermatol</span>
2022 Dec;47(12):2342-2345.
Epub 2022 Sep 30
doi: 10.1111/ced.15355.
<span class="bold">PMID: </span><a href="/pubmed/36178237" target="_blank">36178237</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35853659">Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Atzmony L,
Ugwu N,
Hamilton C,
Paller AS,
Zech L,
Antaya RJ,
Choate KA</span><br />
<span class="medgenPMjournal">Pediatr Dermatol</span>
2022 Nov;39(6):903-907.
Epub 2022 Jul 19
doi: 10.1111/pde.15094.
<span class="bold">PMID: </span><a href="/pubmed/35853659" target="_blank">35853659</a><a href="/pmc/articles/PMC9712156" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35254762">Dermoscopy and Reflectance Confocal Microscopy in Actinic Keratosis, Intraepithelial Carcinoma, and Invasive Squamous Cell Carcinoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rstom S,
Abdalla B,
Blumetti T,
Matos L,
Pinhal M,
Paschoal F</span><br />
<span class="medgenPMjournal">J Drugs Dermatol</span>
2022 Mar 1;21(3):259-268.
doi: 10.36849/JDD.5086.
<span class="bold">PMID: </span><a href="/pubmed/35254762" target="_blank">35254762</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17300642">The clinical profile of children in India with pigmentary anomalies along the lines of Blaschko and central nervous system manifestations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pinheiro A,
Mathew MC,
Thomas M,
Jacob M,
Srivastava VM,
Cherian R,
Raju R,
George R</span><br />
<span class="medgenPMjournal">Pediatr Dermatol</span>
2007 Jan-Feb;24(1):11-7.
doi: 10.1111/j.1525-1470.2007.00325.x.
<span class="bold">PMID: </span><a href="/pubmed/17300642" target="_blank">17300642</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Linear%20skin%20defects%20with%20multiple%20congenital%20anomalies%203%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 (11)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38379863">Continuous glucose monitoring and advanced glycation endproducts for prediction of clinical outcomes and development of cystic fibrosis-related diabetes in adults with CF.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Scully KJ,
Brenner L,
Martin K,
Ruazol M,
Sawicki GS,
Uluer A,
Neuringer I,
Yonker LM,
Sicilian L,
Putman MS</span><br />
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
2024;15:1293709.
Epub 2024 Feb 6
doi: 10.3389/fendo.2024.1293709.
<span class="bold">PMID: </span><a href="/pubmed/38379863" target="_blank">38379863</a><a href="/pmc/articles/PMC10876871" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35853659">Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Atzmony L,
Ugwu N,
Hamilton C,
Paller AS,
Zech L,
Antaya RJ,
Choate KA</span><br />
<span class="medgenPMjournal">Pediatr Dermatol</span>
2022 Nov;39(6):903-907.
Epub 2022 Jul 19
doi: 10.1111/pde.15094.
<span class="bold">PMID: </span><a href="/pubmed/35853659" target="_blank">35853659</a><a href="/pmc/articles/PMC9712156" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34957706">A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tan EC,
Chia SY,
Rafi'ee K,
Lee SX,
Kwek ABE,
Tan SH,
Ng VWL,
Wei H,
Koo S,
Koh AL,
Koh MJ</span><br />
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
2022 Jan;10(1):e1848.
Epub 2021 Dec 26
doi: 10.1002/mgg3.1848.
<span class="bold">PMID: </span><a href="/pubmed/34957706" target="_blank">34957706</a><a href="/pmc/articles/PMC8801147" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24096629">Congenital linear streaks on the face and neck and microphthalmia in an infant girl.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kluger N,
Bouissou A,
Tauzin L,
Puechberty J,
Dereure O</span><br />
<span class="medgenPMjournal">Acta Derm Venereol</span>
2014 May;94(3):342-3.
doi: 10.2340/00015555-1688.
<span class="bold">PMID: </span><a href="/pubmed/24096629" target="_blank">24096629</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3306336">Epidermal nevus syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Paller AS</span><br />
<span class="medgenPMjournal">Neurol Clin</span>
1987 Aug;5(3):451-7.
<span class="bold">PMID: </span><a href="/pubmed/3306336" target="_blank">3306336</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Linear%20skin%20defects%20with%20multiple%20congenital%20anomalies%203%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 (26)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/35853659">Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Atzmony L,
Ugwu N,
Hamilton C,
Paller AS,
Zech L,
Antaya RJ,
Choate KA</span><br />
<span class="medgenPMjournal">Pediatr Dermatol</span>
2022 Nov;39(6):903-907.
Epub 2022 Jul 19
doi: 10.1111/pde.15094.
<span class="bold">PMID: </span><a href="/pubmed/35853659" target="_blank">35853659</a><a href="/pmc/articles/PMC9712156" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9596120">Bronchial reactivity to cigarette smoke in smokers: repeatability, relationship to methacholine reactivity, smoking and atopy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jensen EJ,
Dahl R,
Steffensen F</span><br />
<span class="medgenPMjournal">Eur Respir J</span>
1998 Mar;11(3):670-6.
<span class="bold">PMID: </span><a href="/pubmed/9596120" target="_blank">9596120</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Linear%20skin%20defects%20with%20multiple%20congenital%20anomalies%203%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38379863">Continuous glucose monitoring and advanced glycation endproducts for prediction of clinical outcomes and development of cystic fibrosis-related diabetes in adults with CF.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Scully KJ,
Brenner L,
Martin K,
Ruazol M,
Sawicki GS,
Uluer A,
Neuringer I,
Yonker LM,
Sicilian L,
Putman MS</span><br />
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
2024;15:1293709.
Epub 2024 Feb 6
doi: 10.3389/fendo.2024.1293709.
<span class="bold">PMID: </span><a href="/pubmed/38379863" target="_blank">38379863</a><a href="/pmc/articles/PMC10876871" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36317804">Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Oliwa A,
Hendson G,
Longman C,
Synnes A,
Seath K,
Barnicoat A,
Hall JG,
Patel MS</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2023 Feb;191(2):546-553.
Epub 2022 Nov 1
doi: 10.1002/ajmg.a.63019.
<span class="bold">PMID: </span><a href="/pubmed/36317804" target="_blank">36317804</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29252183">Bullous Pemphigoid Masquerading as Erythema Annulare Centrifugum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yu-Yang S,
Chu-Sung Hu S,
Yiao-Lin S</span><br />
<span class="medgenPMjournal">Acta Dermatovenerol Croat</span>
2017 Oct;25(3):255-256.
<span class="bold">PMID: </span><a href="/pubmed/29252183" target="_blank">29252183</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25093865">CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gantner S,
Rütten A,
Requena L,
Gassenmaier G,
Landthaler M,
Hafner C</span><br />
<span class="medgenPMjournal">J Cutan Pathol</span>
2014 Oct;41(10):787-90.
Epub 2014 Oct 18
doi: 10.1111/cup.12377.
<span class="bold">PMID: </span><a href="/pubmed/25093865" target="_blank">25093865</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17286317">Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cain CC,
Saul D,
Attanasio L,
Oehler E,
Hamosh A,
Blakemore K,
Stetten G</span><br />
<span class="medgenPMjournal">Prenat Diagn</span>
2007 Apr;27(4):373-9.
doi: 10.1002/pd.1674.
<span class="bold">PMID: </span><a href="/pubmed/17286317" target="_blank">17286317</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Linear%20skin%20defects%20with%20multiple%20congenital%20anomalies%203%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 (10)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38379863">Continuous glucose monitoring and advanced glycation endproducts for prediction of clinical outcomes and development of cystic fibrosis-related diabetes in adults with CF.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Scully KJ,
Brenner L,
Martin K,
Ruazol M,
Sawicki GS,
Uluer A,
Neuringer I,
Yonker LM,
Sicilian L,
Putman MS</span><br />
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
2024;15:1293709.
Epub 2024 Feb 6
doi: 10.3389/fendo.2024.1293709.
<span class="bold">PMID: </span><a href="/pubmed/38379863" target="_blank">38379863</a><a href="/pmc/articles/PMC10876871" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31571289">A missense variant in the NSDHL gene in a Chihuahua with a congenital cornification disorder resembling inflammatory linear verrucous epidermal nevi.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Leuthard F,
Lehner G,
Jagannathan V,
Leeb T,
Welle M</span><br />
<span class="medgenPMjournal">Anim Genet</span>
2019 Dec;50(6):768-771.
Epub 2019 Oct 1
doi: 10.1111/age.12862.
<span class="bold">PMID: </span><a href="/pubmed/31571289" target="_blank">31571289</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21255870">Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-κB essential modulator gene mutations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hadj-Rabia S,
Rimella A,
Smahi A,
Fraitag S,
Hamel-Teillac D,
Bonnefont JP,
de Prost Y,
Bodemer C</span><br />
<span class="medgenPMjournal">J Am Acad Dermatol</span>
2011 Mar;64(3):508-15.
Epub 2011 Jan 20
doi: 10.1016/j.jaad.2010.01.045.
<span class="bold">PMID: </span><a href="/pubmed/21255870" target="_blank">21255870</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8116674">Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lindsay EA,
Grillo A,
Ferrero GB,
Roth EJ,
Magenis E,
Grompe M,
Hultén M,
Gould C,
Baldini A,
Zoghbi HY</span><br />
<span class="medgenPMjournal">Am J Med Genet</span>
1994 Jan 15;49(2):229-34.
doi: 10.1002/ajmg.1320490214.
<span class="bold">PMID: </span><a href="/pubmed/8116674" target="_blank">8116674</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3321995">New autosomal dominant branchio-oculo-facial syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fujimoto A,
Lipson M,
Lacro RV,
Shinno NW,
Boelter WD,
Jones KL,
Wilson MG</span><br />
<span class="medgenPMjournal">Am J Med Genet</span>
1987 Aug;27(4):943-51.
doi: 10.1002/ajmg.1320270422.
<span class="bold">PMID: </span><a href="/pubmed/3321995" target="_blank">3321995</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Linear%20skin%20defects%20with%20multiple%20congenital%20anomalies%203%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>
</div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4225421%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (10)</a></li>
<li><a href="/gtr/tests?term=C4225421%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (13)</a></li>
<li><a href="/gtr/tests?term=C4225421%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4225421%5bDISCUI%5d" target="_blank">See all (15)</a></total></li>
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