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<meta name="keywords" content="C1853235, disease or syndrome, hardening of skin and connective tissue, isolated congenital sclerocornea, sclerocornea, sclerocornea (disease), 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="A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=344000
|
||
ConceptID=C1853235
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Sclerocornea</div></h1><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) Click for more information."><span class="highlight" style="background-color:">C1853235</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Sclerocornea (disease)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000647">HP:0000647</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019629" target="_blank">MONDO:0019629</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=91490">ORPHA91490</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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|
||
<div class="portlet_content ln">A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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|
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<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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853235[DISCUI]&test_type=Clinical" ref="ncbi_uid=344000">C</a></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 Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=344000" ref="ncbi_uid=344000">V</a></span></span><span class="TLline">Sclerocornea</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1370071" ref="tree=MeSH" title="MedGen record for Abnormality of the eye">Abnormality of the eye</a></span><ul><li><span class="TLline"><a href="/medgen/868526" ref="tree=MeSH" title="MedGen record for Abnormal eye morphology">Abnormal eye morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870894" ref="tree=MeSH" title="MedGen record for Abnormal anterior eye segment morphology">Abnormal anterior eye segment morphology</a></span><ul><li><span class="TLline"><a href="/medgen/383737" ref="tree=MeSH" title="MedGen record for Abnormal cornea morphology">Abnormal cornea morphology</a></span><ul><li><span class="TLline"><a href="/medgen/40485" ref="tree=MeSH" title="MedGen record for Corneal opacity">Corneal opacity</a></span><ul><li><span class="matched_ds">Sclerocornea</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_4297"><div><strong>DiGeorge syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4297</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0012236</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, characteristic facial features, and learning difficulties. Hearing loss can be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4297">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_91031"><div><strong>Irido-corneo-trabecular dysgenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91031</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0344559</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016). Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002). Patients with ASGD5 have been reported with the Peters anomaly, Axenfeld anomaly, and Rieger anomaly subtypes. Peters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea (Peters, 1906). It occurs as an isolated ocular abnormality or in association with other ocular defects. In Axenfeld anomaly, strands of iris tissue attach to the Schwalbe line; in Rieger anomaly, in addition to the attachment of iris tissue to the Schwalbe line, there is clinically evident iris stromal atrophy with hole or pseudo-hole formation and corectopia (summary by Smith and Traboulsi, 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/91031">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_140807"><div><strong>Encephalocraniocutaneous lipomatosis</strong><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) Click for more information.">C0406612</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140807">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_163210"><div><strong>Linear skin defects with multiple congenital anomalies 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163210</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0796070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163210">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_322127"><div><strong>Van den Ende-Gupta syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322127</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1833136</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Van den Ende-Gupta syndrome (VDEGS) is an autosomal recessive disorder characterized by severe contractual arachnodactyly from birth and distinctive facial dysmorphism, including triangular face, malar hypoplasia, narrow nose, everted lips, and blepharophimosis. Skeletal anomalies include slender ribs, hooked clavicles, and dislocated radial head. There is no neurologic involvement (summary by Patel et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322127">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_373020"><div><strong>Al-Gazali syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373020</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836121</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Al-Gazali syndrome (ALGAZ) is characterized by prenatal growth retardation, skeletal anomalies including joint contractures, camptodactyly, and bilateral talipes equinovarus, small mouth, anterior segment eye anomalies, and early lethality (summary by Ben-Mahmoud et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373020">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340297"><div><strong>Ectodermal dysplasia-blindness syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340297</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849332</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340297">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_339935"><div><strong>Congenital primary aphakia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339935</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1853230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anterior segment dysgeneses are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016). Anterior segment dysgenesis is sometimes divided into subtypes, including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002). Some patients with ASGD2 have been reported with a congenital primary aphakia subtype. Congenital primary aphakia is a rare developmental disorder characterized by absence of the lens, the development of which is normally induced during the fourth to fifth week of human embryogenesis. This original failure leads, in turn, to complete aplasia of the anterior segment of the eye, which is the diagnostic histologic criterion for CPAK. In contrast, in secondary aphakia, lens induction occurs and the lens vesicle develops to some degree, but is progressively resorbed perinatally, resulting in less severe ocular defects (summary by Valleix et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339935">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340938"><div><strong>Stromme syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340938</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855705</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Strømme syndrome is a clinically variable disorder characterized primarily by small bowel intestinal atresia (including apple peel intestinal atresia), microcephaly, developmental delay and/or intellectual disability, structural brain anomalies, and ocular, genitourinary, and cardiac anomalies. A highly variable clinical presentation is observed among affected individuals that may range from mid-gestation lethality, to multisystem involvement with features implicated in the ciliopathies, to nonsyndromic microcephaly with developmental delay. Apple peel intestinal atresia, a rare form of small bowel atresia involving the proximal jejunum near the ligament of Treitz, occurs in some individuals. Intestinal atresia in individuals with Strømme syndrome can involve the duodenum, jejunum, or multiple segments.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340938">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_346616"><div><strong>Cornea plana 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346616</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1857574</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA2 is a severe form of the disorder, which is frequently associated with additional ocular manifestations (summary by Tahvanainen et al., 1996). For discussion of genetic heterogeneity of CNA, see CNA1 (121400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346616">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341818"><div><strong>Yunis-Varon syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341818</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1857663</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Yunis-Varon syndrome (YVS) is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341818">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347232"><div><strong>Anophthalmia/microphthalmia-esophageal atresia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347232</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859773</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The phenotypic spectrum of SOX2 disorder includes anophthalmia and/or microphthalmia, brain malformations, developmental delay / intellectual disability, esophageal atresia, hypogonadotropic hypogonadism (manifest as cryptorchidism and micropenis in males, gonadal dysgenesis infrequently in females, and delayed puberty in both sexes), pituitary hypoplasia, postnatal growth delay, hypotonia, seizures, and spastic or dystonic movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347232">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355268"><div><strong>Microphthalmia with brain and digit anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355268</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1864689</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This syndrome has characteristics of anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355268">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_393758"><div><strong>Oculoauricular syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393758</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2677500</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oculoauricular syndrome (OCACS) is characterized by complex ocular anomalies, including congenital cataract, anterior segment dysgenesis, iris coloboma, and early-onset retinal dystrophy, and dysplastic ears with abnormal external ear cartilage (summary by Gillespie et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393758">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462967"><div><strong>Anterior segment dysgenesis 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462967</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3151617</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016). In sclerocornea there is congenital, nonprogressive corneal opacification that may be peripheral, sectoral, or central in location. Visual prognosis is related to the central corneal involvement. The cornea has a flat curvature. The majority of cases are bilateral (summary by Smith and Traboulsi, 2012). Isolated sclerocornea is caused by displacement of the limbal arcades and may be associated with cornea plana; in this condition, the anterior chamber is visible and the eye is not microphthalmic. In complex sclerocornea, however, corneal opacification is associated with microphthalmia, cataract, and/or infantile glaucoma. The central cornea is usually relatively clear, but the thickness is normal or increased, never reduced (summary by Nischal, 2007).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462967">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481641"><div><strong>Brittle cornea syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481641</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3280011</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017). For a discussion of genetic heterogeneity of brittle cornea syndrome, see BCS1 (229200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481641">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481861"><div><strong>Chromosome 8q21.11 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481861</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3280231</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The chromosome 8q21.11 deletion syndrome is characterized by impaired intellectual development and common facial dysmorphic features (summary by Palomares et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481861">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767506"><div><strong>Microphthalmia, isolated, with coloboma 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767506</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3554592</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MCOPCB9 is characterized by microphthalmia and coloboma (Aldahmesh et al., 2012). MCOPS15 is characterized by microphthalmia and/or coloboma, with developmental delay in which speech appears to be more severely affected than motor abilities. Additional ocular anomalies that have been observed include ptosis, keyhole-shaped pupils, microcornea, sclerocornea, and anterior segment dysgenesis (Chassaing et al., 2016; Stephen et al., 2018; Singh et al., 2019). For a discussion of genetic heterogeneity of colobomatous microphthalmia, see MCOPCB1 (300345). For a discussion of genetic heterogeneity of syndromic microphthalmia, see MCOPS1 (309800).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767506">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_862977"><div><strong>Colobomatous microphthalmia-rhizomelic dysplasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862977</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4014540</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/862977">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_906997"><div><strong>Linear skin defects with multiple congenital anomalies 3</strong><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) Click for more information.">C4225421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/906997">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1804193"><div><strong>Neurocardiofaciodigital syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1804193</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5677020</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurocardiofaciodigital syndrome (NCFD) is characterized by severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with a supernumerary hypoplastic digit between the fourth and fifth digits of the hands and/or feet. Other features include eye abnormalities, hearing impairment, and electroencephalogram anomalies (summary by Horn et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1804193">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823955"><div><strong>Isolated microphthalmia 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823955</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5774181</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Syndromic microphthalmia-16 (MCOPS16) is characterized by bilateral severe microphthalmia or anophthalmia with variable presence of midline defects, including cleft lip and palate, absence of frontal and/or sphenoidal sinuses, and absent pituitary gland. Some patients exhibit developmental delay and intellectual disability or autism (Voronina et al., 2004; Abouzeid et al., 2012; Chassaing et al., 2014; Brachet et al., 2019). For discussion of the genetic heterogeneity of syndromic microphthalmia, see MCOPS1 (309800).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823955">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373020" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Al-Gazali syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anophthalmia/microphthalmia-esophageal atresia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462967" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anterior segment dysgenesis 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481641" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brittle cornea syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481861" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 8q21.11 deletion syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (22)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862977" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Colobomatous microphthalmia-rhizomelic dysplasia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339935" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital primary aphakia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346616" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cornea plana 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_4297" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">DiGeorge syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340297" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectodermal dysplasia-blindness syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140807" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Encephalocraniocutaneous lipomatosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_91031" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Irido-corneo-trabecular dysgenesis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823955" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isolated microphthalmia 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163210" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Linear skin defects with multiple congenital anomalies 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_906997" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Linear skin defects with multiple congenital anomalies 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355268" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia with brain and digit anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767506" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia, isolated, with coloboma 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1804193" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurocardiofaciodigital syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_393758" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculoauricular syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340938" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stromme syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322127" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Van den Ende-Gupta syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341818" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Yunis-Varon syndrome</a></div></span></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/32193685">Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krab LC,
|
||
Marcos-Alcalde I,
|
||
Assaf M,
|
||
Balasubramanian M,
|
||
Andersen JB,
|
||
Bisgaard AM,
|
||
Fitzpatrick DR,
|
||
Gudmundsson S,
|
||
Huisman SA,
|
||
Kalayci T,
|
||
Maas SM,
|
||
Martinez F,
|
||
McKee S,
|
||
Menke LA,
|
||
Mulder PA,
|
||
Murch OD,
|
||
Parker M,
|
||
Pie J,
|
||
Ramos FJ,
|
||
Rieubland C,
|
||
Rosenfeld Mokry JA,
|
||
Scarano E,
|
||
Shinawi M,
|
||
Gómez-Puertas P,
|
||
Tümer Z,
|
||
Hennekam RC</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2020 May;139(5):575-592.
|
||
Epub 2020 Mar 19
|
||
doi: 10.1007/s00439-020-02138-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32193685" target="_blank">32193685</a><a href="/pmc/articles/PMC7170815" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31247621">Clinicopathologic Features and Treatment Characteristics of Congenital Corneal Opacity Infants and Children Aged 3 Years or Less: A Retrospective Single Institution Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miao S,
|
||
Lin Q,
|
||
Liu Y,
|
||
Song YW,
|
||
Zhang YN,
|
||
Pan ZQ</span><br />
|
||
<span class="medgenPMjournal">Med Princ Pract</span>
|
||
2020;29(1):18-24.
|
||
Epub 2019 Jun 28
|
||
doi: 10.1159/000501763.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31247621" target="_blank">31247621</a><a href="/pmc/articles/PMC7024849" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29136273">FOXE3 mutations: genotype-phenotype correlations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Plaisancié J,
|
||
Ragge NK,
|
||
Dollfus H,
|
||
Kaplan J,
|
||
Lehalle D,
|
||
Francannet C,
|
||
Morin G,
|
||
Colineaux H,
|
||
Calvas P,
|
||
Chassaing N</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2018 Apr;93(4):837-845.
|
||
doi: 10.1111/cge.13177.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29136273" target="_blank">29136273</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22sclerocornea%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 (4)</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/38163816">Descemet stripping automated endothelial keratoplasty via a frown incision.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakatani S,
|
||
Yamaguchi M,
|
||
Iwamoto S</span><br />
|
||
<span class="medgenPMjournal">Jpn J Ophthalmol</span>
|
||
2024 Jan;68(1):50-56.
|
||
Epub 2024 Jan 2
|
||
doi: 10.1007/s10384-023-01038-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38163816" target="_blank">38163816</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28868832">Combined Cataract Extraction With Pars Plana Vitrectomy and Metallic Intraocular Foreign Body Removal Through Sclerocorneal Tunnel Using a Novel "Magnet Handshake" Technique.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dhoble P,
|
||
Khodifad A</span><br />
|
||
<span class="medgenPMjournal">Asia Pac J Ophthalmol (Phila)</span>
|
||
2018 Mar-Apr;7(2):114-118.
|
||
Epub 2017 Sep 4
|
||
doi: 10.22608/APO.2017207.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28868832" target="_blank">28868832</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9479533">Outcome of anterior-segment surgery in Rieger's anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dietlein TS,
|
||
Jacobi PC,
|
||
Krieglstein GK</span><br />
|
||
<span class="medgenPMjournal">Ger J Ophthalmol</span>
|
||
1996 Nov;5(6):439-42.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9479533" target="_blank">9479533</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8661044">Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schaefer L,
|
||
Ballabio A,
|
||
Zoghbi HY</span><br />
|
||
<span class="medgenPMjournal">Genomics</span>
|
||
1996 Jun 1;34(2):166-72.
|
||
doi: 10.1006/geno.1996.0261.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8661044" target="_blank">8661044</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3322995">Keratoplasty for sclerocornea in early infancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zingirian M</span><br />
|
||
<span class="medgenPMjournal">Fortschr Ophthalmol</span>
|
||
1987;84(5):429-31.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3322995" target="_blank">3322995</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sclerocornea%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 (35)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38163816">Descemet stripping automated endothelial keratoplasty via a frown incision.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakatani S,
|
||
Yamaguchi M,
|
||
Iwamoto S</span><br />
|
||
<span class="medgenPMjournal">Jpn J Ophthalmol</span>
|
||
2024 Jan;68(1):50-56.
|
||
Epub 2024 Jan 2
|
||
doi: 10.1007/s10384-023-01038-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38163816" target="_blank">38163816</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34148700">Sclerocornea: A rare ocular condition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gouider D,
|
||
Choura R,
|
||
Mekni M,
|
||
Sayadi J,
|
||
Malek I,
|
||
Nacef L</span><br />
|
||
<span class="medgenPMjournal">J Fr Ophtalmol</span>
|
||
2021 Sep;44(7):1089-1091.
|
||
Epub 2021 Jun 18
|
||
doi: 10.1016/j.jfo.2021.05.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34148700" target="_blank">34148700</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33754535">Harboyan Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Javaid A,
|
||
Orakzai AA</span><br />
|
||
<span class="medgenPMjournal">J Ayub Med Coll Abbottabad</span>
|
||
2020 Oct-Dec;32(Suppl 1)(4):S701-S703.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33754535" target="_blank">33754535</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10150831">Ocular manifestations of genetic and developmental diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Diamond G</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Ophthalmol</span>
|
||
1994 Dec;5(6):72-8.
|
||
doi: 10.1097/00055735-199412000-00012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10150831" target="_blank">10150831</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/105122">Melnick-Needles syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perry LD,
|
||
Edwards WC,
|
||
Bramson RT</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
1978 Jul-Aug;15(4):226-30.
|
||
doi: 10.3928/0191-3913-19780701-09.
|
||
<span class="bold">PMID: </span><a href="/pubmed/105122" target="_blank">105122</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sclerocornea%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 (61)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35365117">Outcomes of combined endoscopic vitrectomy and posteriorly placed glaucoma drainage devices in pediatric patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jacobson A,
|
||
Besirli CG,
|
||
Bohnsack BL</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2022 Apr 1;22(1):149.
|
||
doi: 10.1186/s12886-022-02373-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35365117" target="_blank">35365117</a><a href="/pmc/articles/PMC8976343" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24744607">Epithelial phenotype in total sclerocornea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ma DH,
|
||
Yeh LK,
|
||
Chen HC,
|
||
Chang AM,
|
||
Ho YJ,
|
||
Chang SH,
|
||
Yang U</span><br />
|
||
<span class="medgenPMjournal">Mol Vis</span>
|
||
2014;20:468-79.
|
||
Epub 2014 Apr 11
|
||
<span class="bold">PMID: </span><a href="/pubmed/24744607" target="_blank">24744607</a><a href="/pmc/articles/PMC3984041" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17845869">Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wimplinger I,
|
||
Rauch A,
|
||
Orth U,
|
||
Schwarzer U,
|
||
Trautmann U,
|
||
Kutsche K</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2007 Nov-Dec;50(6):421-31.
|
||
Epub 2007 Aug 6
|
||
doi: 10.1016/j.ejmg.2007.07.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17845869" target="_blank">17845869</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7995060">Human allograft limbal transplantation for corneal surface reconstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsai RJ,
|
||
Tseng SC</span><br />
|
||
<span class="medgenPMjournal">Cornea</span>
|
||
1994 Sep;13(5):389-400.
|
||
doi: 10.1097/00003226-199409000-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7995060" target="_blank">7995060</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/329678">Fluorinated corticosteroid toxicity in infants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Romano PE,
|
||
Traisman HS,
|
||
Green OC</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
1977 Aug;84(2):247-50.
|
||
doi: 10.1016/0002-9394(77)90858-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/329678" target="_blank">329678</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sclerocornea%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 (11)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25149931">A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sellars EA,
|
||
Bosanko KA,
|
||
Lepard T,
|
||
Garnica A,
|
||
Schaefer GB</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2014 Jun;21(2):84-7.
|
||
Epub 2014 Apr 13
|
||
doi: 10.1016/j.spen.2014.04.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25149931" target="_blank">25149931</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22871880">A new approach to the classification of neonatal corneal opacities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nischal KK</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Ophthalmol</span>
|
||
2012 Sep;23(5):344-54.
|
||
doi: 10.1097/ICU.0b013e328356893d.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22871880" target="_blank">22871880</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18783408">Confirmation of RAX gene involvement in human anophthalmia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lequeux L,
|
||
Rio M,
|
||
Vigouroux A,
|
||
Titeux M,
|
||
Etchevers H,
|
||
Malecaze F,
|
||
Chassaing N,
|
||
Calvas P</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2008 Oct;74(4):392-5.
|
||
Epub 2008 Sep 9
|
||
doi: 10.1111/j.1399-0004.2008.01078.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18783408" target="_blank">18783408</a><a href="/pmc/articles/PMC2763090" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3322995">Keratoplasty for sclerocornea in early infancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zingirian M</span><br />
|
||
<span class="medgenPMjournal">Fortschr Ophthalmol</span>
|
||
1987;84(5):429-31.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3322995" target="_blank">3322995</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4918435">Penetrating keratoplasty in an infant with sclerocornea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wood TO,
|
||
Kaufman HE</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
1970 Oct;70(4):609-13.
|
||
doi: 10.1016/0002-9394(70)90897-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4918435" target="_blank">4918435</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sclerocornea%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 (28)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/22612277">Microphthalmia with linear skin defects syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">García-Rabasco A,
|
||
De-Unamuno B,
|
||
Martínez F,
|
||
Febrer-Bosch I,
|
||
Alegre-de-Miquel V</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2013 Nov-Dec;30(6):e230-1.
|
||
Epub 2012 May 21
|
||
doi: 10.1111/j.1525-1470.2012.01735.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22612277" target="_blank">22612277</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21976945">Unilateral Peters' anomaly with chorioretinal coloboma in the other eye.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cho D,
|
||
Choi D,
|
||
Nam W</span><br />
|
||
<span class="medgenPMjournal">Korean J Ophthalmol</span>
|
||
2011 Oct;25(5):352-4.
|
||
Epub 2011 Sep 20
|
||
doi: 10.3341/kjo.2011.25.5.352.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21976945" target="_blank">21976945</a><a href="/pmc/articles/PMC3178772" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18783408">Confirmation of RAX gene involvement in human anophthalmia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lequeux L,
|
||
Rio M,
|
||
Vigouroux A,
|
||
Titeux M,
|
||
Etchevers H,
|
||
Malecaze F,
|
||
Chassaing N,
|
||
Calvas P</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2008 Oct;74(4):392-5.
|
||
Epub 2008 Sep 9
|
||
doi: 10.1111/j.1399-0004.2008.01078.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18783408" target="_blank">18783408</a><a href="/pmc/articles/PMC2763090" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15812812">SOX2 anophthalmia syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ragge NK,
|
||
Lorenz B,
|
||
Schneider A,
|
||
Bushby K,
|
||
de Sanctis L,
|
||
de Sanctis U,
|
||
Salt A,
|
||
Collin JR,
|
||
Vivian AJ,
|
||
Free SL,
|
||
Thompson P,
|
||
Williamson KA,
|
||
Sisodiya SM,
|
||
van Heyningen V,
|
||
Fitzpatrick DR</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2005 May 15;135(1):1-7; discussion 8.
|
||
doi: 10.1002/ajmg.a.30642.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15812812" target="_blank">15812812</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8661044">Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schaefer L,
|
||
Ballabio A,
|
||
Zoghbi HY</span><br />
|
||
<span class="medgenPMjournal">Genomics</span>
|
||
1996 Jun 1;34(2):166-72.
|
||
doi: 10.1006/geno.1996.0261.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8661044" target="_blank">8661044</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sclerocornea%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 (29)</a></div></div>
|
||
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|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/21738392">Chromosome abnormalities and the genetics of congenital corneal opacification.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mataftsi A,
|
||
Islam L,
|
||
Kelberman D,
|
||
Sowden JC,
|
||
Nischal KK</span><br />
|
||
<span class="medgenPMjournal">Mol Vis</span>
|
||
2011;17:1624-40.
|
||
Epub 2011 Jun 17
|
||
<span class="bold">PMID: </span><a href="/pubmed/21738392" target="_blank">21738392</a><a href="/pmc/articles/PMC3123159" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sclerocornea%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
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|
||
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|
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<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1853235%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (9)</a></li>
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||
<li><a href="/gtr/tests?term=C1853235%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (9)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1853235%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=91490" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Sclerocornea" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22sclerocornea%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="https://www.malacards.org/card/anterior_segment_dysgenesis_7" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Sclerocornea" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16800/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/clinical?term=Sclerocornea" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Sclerocornea%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1853235[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1853235[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=344000" ref="log$=recordlinks">MeSH</a>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=344000" ref="log$=recordlinks">PMC Articles</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=344000" ref="log$=recordlinks">PubMed</a>
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<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
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||
<li>
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||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
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||
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||
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