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<!--
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||
UID=48433
|
||
ConceptID=C0035313
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Retinal dysplasia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48433</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.">C0035313</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Dysplasia, Retinal; Dysplasias, Retinal; Retinal Dysplasia; Retinal Dysplasias</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Retinal dysplasia (95494009)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0007973">HP:0007973</a></td></tr>
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|
||
<div class="portlet_content ln">The presence of developmental dysplasia of the retina. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_118">
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<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>
|
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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=C0035313[DISCUI]&test_type=Clinical" ref="ncbi_uid=48433">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=48433" ref="ncbi_uid=48433">V</a></span></span><span class="TLline">Retinal dysplasia</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/870893" ref="tree=MeSH" title="MedGen record for Abnormal posterior eye segment morphology">Abnormal posterior eye segment morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871316" ref="tree=MeSH" title="MedGen record for Abnormal fundus morphology">Abnormal fundus morphology</a></span><ul><li><span class="TLline"><a href="/medgen/472885" ref="tree=MeSH" title="MedGen record for Abnormal retinal morphology">Abnormal retinal morphology</a></span><ul><li><span class="matched_ds">Retinal dysplasia</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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||
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||
<div class="portlet mgSection" id="ID_112">
|
||
<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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_75615"><div><strong>Atrophia bulborum hereditaria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75615</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.">C0266526</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Norrie disease (ND) is an X-linked recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizures (Berger et al., 1992). Warburg (1966) noted confusion of the terms 'pseudoglioma' and microphthalmia with Norrie disease in the literature. 'Pseudoglioma' is a nonspecific term for any condition resembling retinoblastoma and can have diverse causes, including inflammation, hemorrhage, trauma, neoplasia, or congenital malformation, and often shows unilateral involvement. Thus, 'pseudoglioma' is not an acceptable clinical or pathologic diagnosis (see Duke, 1958).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75615">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_140820"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140820</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.">C0410174</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fukuyama congenital muscular dystrophy (FCMD) is characterized by hypotonia, symmetric generalized muscle weakness, and CNS migration disturbances that result in changes consistent with cobblestone lissencephaly with cerebral and cerebellar cortical dysplasia. Mild, typical, and severe phenotypes are recognized. Onset typically occurs in early infancy with poor suck, weak cry, and floppiness. Affected individuals have contractures of the hips, knees, and interphalangeal joints. Later features include myopathic facial appearance, pseudohypertrophy of the calves and forearms, motor and speech delays, intellectual disability, seizures, ophthalmologic abnormalities including visual impairment and retinal dysplasia, and progressive cardiac involvement after age ten years. Swallowing disturbance occurs in individuals with severe FCMD and in individuals older than age ten years, leading to recurrent aspiration pneumonia and death.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140820">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_330459"><div><strong>Aprosencephaly cerebellar dysgenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330459</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.">C1832412</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic non-syndromic central nervous system malformation with characteristics of absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/330459">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341456"><div><strong>Reese retinal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341456</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.">C1849450</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341456">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347615"><div><strong>Stickler syndrome type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347615</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.">C1858084</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Pierre Robin sequence); and early-onset degenerative joint disease. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347615">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_461764"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461764</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.">C3150414</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/461764">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462869"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462869</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.">C3151519</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462869">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766244"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766244</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.">C3553330</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766244">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766727"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766727</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.">C3553813</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Manzini et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766727">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767295"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767295</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.">C3554381</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. The brain shows cobblestone lissencephaly, a cortical malformation. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Vuillaumier-Barrot et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767295">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815372"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815372</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.">C3809042</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as dystroglycanopathies (summary by Buysse et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815372">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816608"><div><strong>Joubert syndrome 22</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816608</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.">C3810278</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816608">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854679"><div><strong>Retinal dysplasia, primary</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854679</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.">C3887971</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854679">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_862720"><div><strong>Complex cortical dysplasia with other brain malformations 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862720</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.">C4014283</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/862720">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_924974"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924974</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.">C4284790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is a genetically heterogeneous autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and early death. The phenotype commonly includes cobblestone (type II) lissencephaly, cerebellar malformations, and retinal malformations. More variable features include macrocephaly or microcephaly, hypoplasia of midline brain structures, ventricular dilatation, microphthalmia, cleft lip/palate, and congenital contractures (Dobyns et al., 1989). Those with a more severe phenotype characterized as Walker-Warburg syndrome often die within the first year of life, whereas those characterized as having muscle-eye-brain disease may rarely acquire the ability to walk and to speak a few words. These are part of a group of disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies (Type A) Muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is genetically heterogeneous and can be caused by mutation in other genes involved in DAG1 glycosylation: see MDDGA2 (613150), caused by mutation in the POMT2 gene (607439); MDDGA3 (253280), caused by mutation in the POMGNT1 gene (606822); MDDGA4 (253800), caused by mutation in the FKTN gene (607440); MDDGA5 (613153), caused by mutation in the FKRP gene (606596); MDDGA6 (613154), caused by mutation in the LARGE gene (603590); MDDGA7 (614643), caused by mutation in the ISPD gene (CRPPA; 614631); MDDGA8 (614830) caused by mutation in the GTDC2 gene (POMGNT2; 614828); MDDGA9 (616538), caused by mutation in the DAG1 gene (128239); MDDGA10 (615041), caused by mutation in the TMEM5 gene (RXYLT1; 605862); MDDGA11 (615181), caused by mutation in the B3GALNT2 gene (610194); MDDGA12 (615249), caused by mutation in the SGK196 gene (POMK; 615247); MDDGA13 (615287), caused by mutation in the B3GNT1 gene (B4GAT1; 605517); and MDDGA14 (615350), caused by mutation in the GMPPB gene (615320).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/924974">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934711"><div><strong>Bone marrow failure syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934711</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.">C4310744</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bone marrow failure syndrome-3 is an autosomal recessive disorder characterized by onset of pancytopenia in early childhood. Patients may have additional variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies (summary by Tummala et al., 2016). BMFS3 has a distinct phenotype and may include features that overlap with Shwachman-Diamond syndrome (SDS1; 260400), such as pancreatic insufficiency and short stature, and with dyskeratosis congenita (see, e.g., DKCA1, 127550), such as dental and hair abnormalities and shortened telomeres. In addition, some patients may have joint and skeletal abnormalities, impaired development, and retinal dysplasia (summary by D'Amours et al., 2018). For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934711">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1644883"><div><strong>Joubert syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644883</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.">C4551568</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644883">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_330459" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aprosencephaly cerebellar dysgenesis</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75615" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrophia bulborum hereditaria</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934711" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone marrow failure syndrome 3</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862720" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Complex cortical dysplasia with other brain malformations 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1644883" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (17)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816608" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 22</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767295" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140820" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766244" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766727" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_924974" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815372" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462869" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461764" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341456" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reese retinal dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854679" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal dysplasia, primary</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347615" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stickler syndrome type 2</a></div></span></div></div>
|
||
</div>
|
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|
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/37555648">Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Fassad MR,
|
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Rumman N,
|
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Junger K,
|
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Patel MP,
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Thompson J,
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Goggin P,
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Ueffing M,
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Beyer T,
|
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Boldt K,
|
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Lucas JS,
|
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Mitchison HM</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2023 Oct 17;32(21):3090-3104.
|
||
doi: 10.1093/hmg/ddad132.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37555648" target="_blank">37555648</a><a href="/pmc/articles/PMC10586200" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26427408">Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jacobson SG,
|
||
Cideciyan AV,
|
||
Huang WC,
|
||
Sumaroka A,
|
||
Nam HJ,
|
||
Sheplock R,
|
||
Schwartz SB</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2016;854:169-75.
|
||
doi: 10.1007/978-3-319-17121-0_23.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26427408" target="_blank">26427408</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9511971">Prenatal diagnosis of Walker-Warburg syndrome in three sibs.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gasser B,
|
||
Lindner V,
|
||
Dreyfus M,
|
||
Feidt X,
|
||
Leissner P,
|
||
Treisser A,
|
||
Stoll C</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1998 Mar 5;76(2):107-10.
|
||
doi: 10.1002/(sici)1096-8628(19980305)76:2<107::aid-ajmg1>3.3.co;2-b.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9511971" target="_blank">9511971</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22retinal%20dysplasia%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 (3)</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/34039153">The Final Diagnosis: Retinoblastoma or Pseudoretinoblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mirzayev I,
|
||
Gündüz AK,
|
||
Biçer Ö,
|
||
Tarlan B</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
2021 May-Jun;58(3):161-167.
|
||
Epub 2021 May 1
|
||
doi: 10.3928/01913913-20210108-01.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34039153" target="_blank">34039153</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20619898">Laser photocoagulation at birth prevents blindness in Norrie's disease diagnosed using amniocentesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chow CC,
|
||
Kiernan DF,
|
||
Chau FY,
|
||
Blair MP,
|
||
Ticho BH,
|
||
Galasso JM,
|
||
Shapiro MJ</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2010 Dec;117(12):2402-6.
|
||
doi: 10.1016/j.ophtha.2010.03.057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20619898" target="_blank">20619898</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19159610">An attempt to prevent senescence: a mitochondrial approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Skulachev VP,
|
||
Anisimov VN,
|
||
Antonenko YN,
|
||
Bakeeva LE,
|
||
Chernyak BV,
|
||
Erichev VP,
|
||
Filenko OF,
|
||
Kalinina NI,
|
||
Kapelko VI,
|
||
Kolosova NG,
|
||
Kopnin BP,
|
||
Korshunova GA,
|
||
Lichinitser MR,
|
||
Obukhova LA,
|
||
Pasyukova EG,
|
||
Pisarenko OI,
|
||
Roginsky VA,
|
||
Ruuge EK,
|
||
Senin II,
|
||
Severina II,
|
||
Skulachev MV,
|
||
Spivak IM,
|
||
Tashlitsky VN,
|
||
Tkachuk VA,
|
||
Vyssokikh MY,
|
||
Yaguzhinsky LS,
|
||
Zorov DB</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta</span>
|
||
2009 May;1787(5):437-61.
|
||
Epub 2008 Dec 29
|
||
doi: 10.1016/j.bbabio.2008.12.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19159610" target="_blank">19159610</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10511337">Joubert syndrome: monozygotic twins with discordant phenotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raynes HR,
|
||
Shanske A,
|
||
Goldberg S,
|
||
Burde R,
|
||
Rapin I</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
1999 Oct;14(10):649-54; discussion 669-72 discussio.
|
||
doi: 10.1177/088307389901401005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10511337" target="_blank">10511337</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10458294">Focal retinal pigment epithelial dysplasia associated with fundus flavimaculatus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gass JD,
|
||
Hummer J</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
1999;19(4):297-301.
|
||
doi: 10.1097/00006982-199907000-00005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10458294" target="_blank">10458294</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20dysplasia%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/32938657">Unilateral retinal dysplasia simulating retinoblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saluja G,
|
||
Lomi N,
|
||
Kashyap S</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2020 Sep 16;13(9)
|
||
doi: 10.1136/bcr-2020-238463.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32938657" target="_blank">32938657</a><a href="/pmc/articles/PMC7497132" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22466750">US and MRI of pediatric ocular masses with histopathological correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brennan RC,
|
||
Wilson MW,
|
||
Kaste S,
|
||
Helton KJ,
|
||
McCarville MB</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2012 Jun;42(6):738-49.
|
||
Epub 2012 Mar 31
|
||
doi: 10.1007/s00247-012-2374-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22466750" target="_blank">22466750</a><a href="/pmc/articles/PMC3530407" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15502502">Percutaneous intervention for renovascular disease: rationale and patient selection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fernando D,
|
||
Garasic J</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Cardiol</span>
|
||
2004 Nov;19(6):582-8.
|
||
doi: 10.1097/01.hco.0000143392.80705.a2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15502502" target="_blank">15502502</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5897719">Retinal dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Snell AC</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
1965 Oct;60(4):621-7.
|
||
doi: 10.1016/0002-9394(65)92250-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5897719" target="_blank">5897719</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14196747">RETINAL DYSPLASIA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">RICKS RM,
|
||
RIFFENBURGH RS</span><br />
|
||
<span class="medgenPMjournal">Arch Ophthalmol</span>
|
||
1964 Nov;72:637-41.
|
||
doi: 10.1001/archopht.1964.00970020637010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14196747" target="_blank">14196747</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20dysplasia%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 (99)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29555514">Congenital muscular dystrophy-dystroglycanopathy, type A, featuring bilateral retinal dysplasia and vertical angle kappa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peiris TJ,
|
||
Indaram M,
|
||
Koo E,
|
||
Soul JS,
|
||
Hunter DG</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2018 Jun;22(3):242-244.e1.
|
||
Epub 2018 Mar 16
|
||
doi: 10.1016/j.jaapos.2017.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29555514" target="_blank">29555514</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16542519">Periventricular leukomalacia and retinopathy in a term infant born to a mother with asthma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hagwall N,
|
||
Engström E,
|
||
Hellström A,
|
||
Jacobson L</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2006 Apr;48(4):301-3.
|
||
doi: 10.1017/S0012162206000648.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16542519" target="_blank">16542519</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15502502">Percutaneous intervention for renovascular disease: rationale and patient selection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fernando D,
|
||
Garasic J</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Cardiol</span>
|
||
2004 Nov;19(6):582-8.
|
||
doi: 10.1097/01.hco.0000143392.80705.a2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15502502" target="_blank">15502502</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8125731">Photosensitization-induced retinopathy in the newborn beagle.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sadda SR,
|
||
Yu YS,
|
||
de Juan E Jr,
|
||
Rencs EV,
|
||
Green WR,
|
||
Gottsch JD</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
1994 Mar;35(3):1202-11.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8125731" target="_blank">8125731</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/415706">Multiple ocular anomalies associated with maternal LSD ingestion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chan CC,
|
||
Fishman M,
|
||
Egbert PR</span><br />
|
||
<span class="medgenPMjournal">Arch Ophthalmol</span>
|
||
1978 Feb;96(2):282-4.
|
||
doi: 10.1001/archopht.1978.03910050150009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/415706" target="_blank">415706</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20dysplasia%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 (8)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25314309">Retinal dysplasia of holoprosencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gorovoy IR,
|
||
Layer N,
|
||
de Alba Campomanes AG</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
2014 Mar 4;51 Online:e16-8.
|
||
doi: 10.3928/01913913-20140225-03.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25314309" target="_blank">25314309</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15637732">Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Currier SC,
|
||
Lee CK,
|
||
Chang BS,
|
||
Bodell AL,
|
||
Pai GS,
|
||
Job L,
|
||
Lagae LG,
|
||
Al-Gazali LI,
|
||
Eyaid WM,
|
||
Enns G,
|
||
Dobyns WB,
|
||
Walsh CA</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2005 Feb 15;133A(1):53-7.
|
||
doi: 10.1002/ajmg.a.30487.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15637732" target="_blank">15637732</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12453509">Walker-Warburg syndrome variant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pabuşçu Y,
|
||
Bulakbasi N,
|
||
Kocaoğlu M,
|
||
Uçöz T</span><br />
|
||
<span class="medgenPMjournal">Comput Med Imaging Graph</span>
|
||
2002 Nov-Dec;26(6):453-8.
|
||
doi: 10.1016/s0895-6111(02)00026-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12453509" target="_blank">12453509</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10511337">Joubert syndrome: monozygotic twins with discordant phenotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raynes HR,
|
||
Shanske A,
|
||
Goldberg S,
|
||
Burde R,
|
||
Rapin I</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
1999 Oct;14(10):649-54; discussion 669-72 discussio.
|
||
doi: 10.1177/088307389901401005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10511337" target="_blank">10511337</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10458294">Focal retinal pigment epithelial dysplasia associated with fundus flavimaculatus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gass JD,
|
||
Hummer J</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
1999;19(4):297-301.
|
||
doi: 10.1097/00006982-199907000-00005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10458294" target="_blank">10458294</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20dysplasia%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 (30)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34039153">The Final Diagnosis: Retinoblastoma or Pseudoretinoblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mirzayev I,
|
||
Gündüz AK,
|
||
Biçer Ö,
|
||
Tarlan B</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
2021 May-Jun;58(3):161-167.
|
||
Epub 2021 May 1
|
||
doi: 10.3928/01913913-20210108-01.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34039153" target="_blank">34039153</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20619898">Laser photocoagulation at birth prevents blindness in Norrie's disease diagnosed using amniocentesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chow CC,
|
||
Kiernan DF,
|
||
Chau FY,
|
||
Blair MP,
|
||
Ticho BH,
|
||
Galasso JM,
|
||
Shapiro MJ</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2010 Dec;117(12):2402-6.
|
||
doi: 10.1016/j.ophtha.2010.03.057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20619898" target="_blank">20619898</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15930898">Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vasudevan PC,
|
||
Garcia-Minaur S,
|
||
Botella MP,
|
||
Perez-Aytes A,
|
||
Shannon NL,
|
||
Quarrell OWJ</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2005 Jul;14(3):109-116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15930898" target="_blank">15930898</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15637732">Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Currier SC,
|
||
Lee CK,
|
||
Chang BS,
|
||
Bodell AL,
|
||
Pai GS,
|
||
Job L,
|
||
Lagae LG,
|
||
Al-Gazali LI,
|
||
Eyaid WM,
|
||
Enns G,
|
||
Dobyns WB,
|
||
Walsh CA</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2005 Feb 15;133A(1):53-7.
|
||
doi: 10.1002/ajmg.a.30487.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15637732" target="_blank">15637732</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/655250">Human retinal dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fulton AB,
|
||
Craft JL,
|
||
Howard RO,
|
||
Albert DM</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
1978 May;85(5 Pt 1):690-8.
|
||
doi: 10.1016/s0002-9394(14)77107-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/655250" target="_blank">655250</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20dysplasia%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 (41)</a></div></div>
|
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|
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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=C0035313%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (15)</a></li>
|
||
<li><a href="/gtr/tests?term=C0035313%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (15)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0035313%5bDISCUI%5d" target="_blank">See all (15)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Retinal%20dysplasia" 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=(%22retinal%20dysplasia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Retinal%20dysplasia%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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