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<meta name="keywords" content="C0018916, angioma, benign angioma, benign hemangioma, hemangioma, hemangioma, benign, hemangiomas, hemangiomata, neoplastic process, strawberry mark, 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 hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=5477
|
||
ConceptID=C0018916
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hemangioma</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5477</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.">C0018916</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Hemangiomas</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hemangioma (400210000); Benign hemangioma (253053003); Benign angioma (253053003)</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:0001028">HP:0001028</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0006500" target="_blank">MONDO:0006500</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma). [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=C0018916[DISCUI]&test_type=Clinical" ref="ncbi_uid=5477">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=5477" ref="ncbi_uid=5477">V</a></span></span><span class="TLline">Hemangioma</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/10294" ref="tree=MeSH" title="MedGen record for Neoplasm">Neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/235364" ref="tree=MeSH" title="MedGen record for Neoplasm by Special Category">Neoplasm by Special Category</a></span><ul><li><span class="TLline"><a href="/medgen/39483" ref="tree=MeSH" title="MedGen record for Benign neoplasm">Benign neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/83866" ref="tree=MeSH" title="MedGen record for Benign connective and soft tissue neoplasm">Benign connective and soft tissue neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/235124" ref="tree=MeSH" title="MedGen record for Benign vascular tumor">Benign vascular tumor</a></span><ul><li><span class="TLline"><a href="/medgen/195779" ref="tree=MeSH" title="MedGen record for Benign blood vessel neoplasm">Benign blood vessel neoplasm</a></span><ul><li><span class="matched_ds">Hemangioma</span><ul><li><span class="TLline"><a href="/medgen/208988" ref="tree=MeSH" title="MedGen record for Acquired hemangioma">Acquired hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/868599" ref="tree=MeSH" title="MedGen record for Arachnoid hemangiomatosis">Arachnoid hemangiomatosis</a></span></li><li><span class="TLline"><a href="/medgen/1697907" ref="tree=MeSH" title="MedGen record for Bladder Hemangioma">Bladder Hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/234042" ref="tree=MeSH" title="MedGen record for Bone Hemangioma">Bone Hemangioma</a></span><ul><li><span class="TLline"><a href="/medgen/231951" ref="tree=MeSH" title="MedGen record for Bone epithelioid hemangioma">Bone epithelioid hemangioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/163122" ref="tree=MeSH" title="MedGen record for Breast hemangioma">Breast hemangioma</a></span><ul><li><span class="TLline"><a href="/medgen/231963" ref="tree=MeSH" title="MedGen record for Breast capillary hemangioma">Breast capillary hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/231965" ref="tree=MeSH" title="MedGen record for Breast epithelioid hemangioma">Breast epithelioid hemangioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/64643" ref="tree=MeSH" title="MedGen record for Capillary hemangioma">Capillary hemangioma</a></span><ul><li><span class="TLline"><a href="/medgen/1385828" ref="tree=MeSH" title="MedGen record for Anastomosing haemangioma">Anastomosing haemangioma</a></span></li><li><span class="TLline"><a href="/medgen/328310" ref="tree=MeSH" title="MedGen record for Cardiac Capillary Hemangioma">Cardiac Capillary Hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/87470" ref="tree=MeSH" title="MedGen record for Cherry hemangioma">Cherry hemangioma</a></span><ul><li><span class="TLline"><a href="/medgen/137948" ref="tree=MeSH" title="MedGen record for Cherry Hemangioma of Lip">Cherry Hemangioma of Lip</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/87379" ref="tree=MeSH" title="MedGen record for Eyelid capillary hemangioma">Eyelid capillary hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/347662" ref="tree=MeSH" title="MedGen record for Facial capillary hemangioma">Facial capillary hemangioma</a></span><ul><li><span class="TLline"><a href="/medgen/336589" ref="tree=MeSH" title="MedGen record for Midface capillary hemangioma">Midface capillary hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/395236" ref="tree=MeSH" title="MedGen record for Midfrontal capillary hemangioma">Midfrontal capillary hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/333532" ref="tree=MeSH" title="MedGen record for Midline facial capillary hemangioma">Midline facial capillary hemangioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/104929" ref="tree=MeSH" title="MedGen record for Hemangioblastoma">Hemangioblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/272702" ref="tree=MeSH" title="MedGen record for Central Nervous System Hemangioblastoma">Central Nervous System Hemangioblastoma</a></span></li><li><span class="TLline"><a href="/medgen/234108" ref="tree=MeSH" title="MedGen record for Cerebellar hemangioblastoma">Cerebellar hemangioblastoma</a></span></li><li><span class="TLline"><a href="/medgen/1683265" ref="tree=MeSH" title="MedGen record for Peripheral Hemangioblastoma">Peripheral Hemangioblastoma</a></span></li><li><span class="TLline"><a href="/medgen/152677" ref="tree=MeSH" title="MedGen record for Retinal capillary hemangioma">Retinal capillary hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/869793" ref="tree=MeSH" title="MedGen record for Spinal hemangioblastoma">Spinal hemangioblastoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1380698" ref="tree=MeSH" title="MedGen record for Infantile Hemangioma">Infantile Hemangioma</a></span><ul><li><span class="TLline"><a href="/medgen/476164" ref="tree=MeSH" title="MedGen record for Airway Infantile Hemangioma">Airway Infantile Hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/474705" ref="tree=MeSH" title="MedGen record for Liver Infantile Hemangioma">Liver Infantile Hemangioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/83421" ref="tree=MeSH" title="MedGen record for Orbit Capillary Hemangioma">Orbit Capillary Hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/1639625" ref="tree=MeSH" title="MedGen record for Periocular capillary hemangioma">Periocular capillary hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/39085" ref="tree=MeSH" title="MedGen record for Pyogenic granuloma">Pyogenic granuloma</a></span><ul><li><span class="TLline"><a href="/medgen/11050" ref="tree=MeSH" title="MedGen record for Lobular Capillary Hemangioma of Skin and Subcutaneous Tissue">Lobular Capillary Hemangioma of Skin and Subcutaneous Tissue</a></span></li><li><span class="TLline"><a href="/medgen/277386" ref="tree=MeSH" title="MedGen record for Multiple Lobular Capillary Hemangiomas">Multiple Lobular Capillary Hemangiomas</a></span></li><li><span class="TLline"><a href="/medgen/78621" ref="tree=MeSH" title="MedGen record for Pyogenic granuloma of oral mucosa">Pyogenic granuloma of oral mucosa</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/83402" ref="tree=MeSH" title="MedGen record for Tufted angioma of skin">Tufted angioma of skin</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/310590" ref="tree=MeSH" title="MedGen record for Cardiac hemangioma">Cardiac hemangioma</a></span><ul><li><span class="TLline"><a href="/medgen/310589" ref="tree=MeSH" title="MedGen record for Cardiac Cavernous Hemangioma">Cardiac Cavernous Hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/310591" ref="tree=MeSH" title="MedGen record for Cardiac Intramuscular Hemangioma">Cardiac Intramuscular Hemangioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/9184" ref="tree=MeSH" title="MedGen record for Cavernous hemangioma">Cavernous hemangioma</a></span><ul><li><span class="TLline"><a href="/medgen/232084" ref="tree=MeSH" title="MedGen record for Cavernous hemangioma of colon">Cavernous hemangioma of colon</a></span></li><li><span class="TLline"><a href="/medgen/138059" ref="tree=MeSH" title="MedGen record for Cavernous hemangioma of orbit">Cavernous hemangioma of orbit</a></span></li><li><span class="TLline"><a href="/medgen/152678" ref="tree=MeSH" title="MedGen record for Cavernous hemangioma of retina">Cavernous hemangioma of retina</a></span></li><li><span class="TLline"><a href="/medgen/234097" ref="tree=MeSH" title="MedGen record for Cavernous hemangioma of the face">Cavernous hemangioma of the face</a></span></li><li><span class="TLline"><a href="/medgen/199825" ref="tree=MeSH" title="MedGen record for Central Nervous System Cavernous Hemangioma">Central Nervous System Cavernous Hemangioma</a></span><ul><li><span class="TLline"><a href="/medgen/232659" ref="tree=MeSH" title="MedGen record for Intracranial cavernous angioma">Intracranial cavernous angioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/272670" ref="tree=MeSH" title="MedGen record for Giant hemangioma">Giant hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/482990" ref="tree=MeSH" title="MedGen record for Liver cavernous hemangioma">Liver cavernous hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/313709" ref="tree=MeSH" title="MedGen record for Skin Cavernous Hemangioma">Skin Cavernous Hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/1668115" ref="tree=MeSH" title="MedGen record for Thyroid Gland Cavernous Hemangioma">Thyroid Gland Cavernous Hemangioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/272703" ref="tree=MeSH" title="MedGen record for Central nervous system hemangioma">Central nervous system hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/156018" ref="tree=MeSH" title="MedGen record for Central Nervous System Venous Angioma">Central Nervous System Venous Angioma</a></span></li><li><span class="TLline"><a href="/medgen/195606" ref="tree=MeSH" title="MedGen record for Chorangioma">Chorangioma</a></span></li><li><span class="TLline"><a href="/medgen/83424" ref="tree=MeSH" title="MedGen record for Choroidal hemangioma">Choroidal hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/65912" ref="tree=MeSH" title="MedGen record for Congenital hemangioma">Congenital hemangioma</a></span><ul><li><span class="TLline"><a href="/medgen/83401" ref="tree=MeSH" title="MedGen record for Blue rubber bleb nevus">Blue rubber bleb nevus</a></span></li><li><span class="TLline"><a href="/medgen/698685" ref="tree=MeSH" title="MedGen record for Non-involuting congenital hemangioma">Non-involuting congenital hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/1672492" ref="tree=MeSH" title="MedGen record for Partially involuting congenital hemangioma">Partially involuting congenital hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/698687" ref="tree=MeSH" title="MedGen record for Rapidly involuting congenital hemangioma">Rapidly involuting congenital hemangioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1627494" ref="tree=MeSH" title="MedGen record for Conjunctival Hemangioma">Conjunctival Hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/232421" ref="tree=MeSH" title="MedGen record for Deep hemangioma">Deep hemangioma</a></span><ul><li><span class="TLline"><a href="/medgen/61450" ref="tree=MeSH" title="MedGen record for Intramuscular hemangioma">Intramuscular hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/235470" ref="tree=MeSH" title="MedGen record for Perineural angioma">Perineural angioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66794" ref="tree=MeSH" title="MedGen record for Digestive System Hemangioma">Digestive System Hemangioma</a></span><ul><li><span class="TLline"><a href="/medgen/459491" ref="tree=MeSH" title="MedGen record for Esophageal hemangioma">Esophageal hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/234297" ref="tree=MeSH" title="MedGen record for Gastric hemangioma">Gastric hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/66765" ref="tree=MeSH" title="MedGen record for Hepatic hemangioma">Hepatic hemangioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/61449" ref="tree=MeSH" title="MedGen record for Epithelioid hemangioma">Epithelioid hemangioma</a></span><ul><li><span class="TLline"><a href="/medgen/297" ref="tree=MeSH" title="MedGen record for Skin epithelioid hemangioma">Skin epithelioid hemangioma</a></span><ul><li><span class="TLline"><a href="/medgen/1695660" ref="tree=MeSH" title="MedGen record for Penile Epithelioid Hemangioma">Penile Epithelioid Hemangioma</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/340224" ref="tree=MeSH" title="MedGen record for Glabellar hemangioma">Glabellar hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/224917" ref="tree=MeSH" title="MedGen record for Glomeruloid hemangioma">Glomeruloid hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/42384" ref="tree=MeSH" title="MedGen record for Hemangioendothelioma">Hemangioendothelioma</a></span><ul><li><span class="TLline"><a href="/medgen/220987" ref="tree=MeSH" title="MedGen record for Composite hemangioendothelioma">Composite hemangioendothelioma</a></span></li><li><span class="TLline"><a href="/medgen/569676" ref="tree=MeSH" title="MedGen record for Epithelioid hemangioendothelioma">Epithelioid hemangioendothelioma</a></span><ul><li><span class="TLline"><a href="/medgen/859698" ref="tree=MeSH" title="MedGen record for Adult Epithelioid Hemangioendothelioma">Adult Epithelioid Hemangioendothelioma</a></span></li><li><span class="TLline"><a href="/medgen/881763" ref="tree=MeSH" title="MedGen record for Bone Epithelioid Hemangioendothelioma">Bone Epithelioid Hemangioendothelioma</a></span></li><li><span class="TLline"><a href="/medgen/232024" ref="tree=MeSH" title="MedGen record for Cardiac Epithelioid Hemangioendothelioma">Cardiac Epithelioid Hemangioendothelioma</a></span></li><li><span class="TLline"><a href="/medgen/1386444" ref="tree=MeSH" title="MedGen record for Central Nervous System Epithelioid Hemangioendothelioma">Central Nervous System Epithelioid Hemangioendothelioma</a></span></li><li><span class="TLline"><a href="/medgen/859259" ref="tree=MeSH" title="MedGen record for Childhood Epithelioid Hemangioendothelioma">Childhood Epithelioid Hemangioendothelioma</a></span></li><li><span class="TLline"><a href="/medgen/1783904" ref="tree=MeSH" title="MedGen record for Epithelioid Hemangioendothelioma with WWTR1-CAMTA1 Gene Fusion">Epithelioid Hemangioendothelioma with WWTR1-CAMTA1 Gene Fusion</a></span></li><li><span class="TLline"><a href="/medgen/1788768" ref="tree=MeSH" title="MedGen record for Epithelioid Hemangioendothelioma with YAP1-TFE3 Gene Fusion">Epithelioid Hemangioendothelioma with YAP1-TFE3 Gene Fusion</a></span></li><li><span class="TLline"><a href="/medgen/473525" ref="tree=MeSH" title="MedGen record for Liver Epithelioid Hemangioendothelioma">Liver Epithelioid Hemangioendothelioma</a></span></li><li><span class="TLline"><a href="/medgen/91061" ref="tree=MeSH" title="MedGen record for Lung Epithelioid Hemangioendothelioma">Lung Epithelioid Hemangioendothelioma</a></span></li><li><span class="TLline"><a href="/medgen/1638291" ref="tree=MeSH" title="MedGen record for Mediastinal Epithelioid Hemangioendothelioma">Mediastinal Epithelioid Hemangioendothelioma</a></span></li><li><span class="TLline"><a href="/medgen/1636122" ref="tree=MeSH" title="MedGen record for Metastatic Epithelioid Hemangioendothelioma">Metastatic Epithelioid Hemangioendothelioma</a></span></li><li><span class="TLline"><a href="/medgen/1696467" ref="tree=MeSH" title="MedGen record for Penile Epithelioid Hemangioendothelioma">Penile Epithelioid Hemangioendothelioma</a></span></li><li><span class="TLline"><a href="/medgen/318030" ref="tree=MeSH" title="MedGen record for Pleural Epithelioid Hemangioendothelioma">Pleural Epithelioid Hemangioendothelioma</a></span></li><li><span class="TLline"><a href="/medgen/1723841" ref="tree=MeSH" title="MedGen record for Sinonasal Epithelioid Hemangioendothelioma">Sinonasal Epithelioid Hemangioendothelioma</a></span></li><li><span class="TLline"><a href="/medgen/1710197" ref="tree=MeSH" title="MedGen record for Unresectable Epithelioid Hemangioendothelioma">Unresectable Epithelioid Hemangioendothelioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/234548" ref="tree=MeSH" title="MedGen record for Kaposiform hemangioendothelioma">Kaposiform hemangioendothelioma</a></span></li><li><span class="TLline"><a href="/medgen/311136" ref="tree=MeSH" title="MedGen record for Polymorphus Hemangioendothelioma">Polymorphus Hemangioendothelioma</a></span></li><li><span class="TLline"><a href="/medgen/138037" ref="tree=MeSH" title="MedGen record for Primary intralymphatic angioendothelioma">Primary intralymphatic angioendothelioma</a></span></li><li><span class="TLline"><a href="/medgen/266274" ref="tree=MeSH" title="MedGen record for Retiform hemangioendothelioma">Retiform hemangioendothelioma</a></span></li><li><span class="TLline"><a href="/medgen/91082" ref="tree=MeSH" title="MedGen record for Skin Hemangioendothelioma">Skin Hemangioendothelioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/108426" ref="tree=MeSH" title="MedGen record for Hemangioma of gingiva">Hemangioma of gingiva</a></span></li><li><span class="TLline"><a href="/medgen/233268" ref="tree=MeSH" title="MedGen record for Hemangioma of orbit">Hemangioma of orbit</a></span></li><li><span class="TLline"><a href="/medgen/232595" ref="tree=MeSH" title="MedGen record for Hemangioma of peripheral nerve">Hemangioma of peripheral nerve</a></span></li><li><span class="TLline"><a href="/medgen/146343" ref="tree=MeSH" title="MedGen record for Hemangioma of subcutaneous tissue">Hemangioma of subcutaneous tissue</a></span><ul><li><span class="TLline"><a href="/medgen/725857" ref="tree=MeSH" title="MedGen record for Sinusoidal Hemangioma">Sinusoidal Hemangioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/278015" ref="tree=MeSH" title="MedGen record for Hemangiomatosis">Hemangiomatosis</a></span><ul><li><span class="TLline"><a href="/medgen/87404" ref="tree=MeSH" title="MedGen record for Pulmonary capillary hemangiomatosis">Pulmonary capillary hemangiomatosis</a></span></li><li><span class="TLline"><a href="/medgen/867591" ref="tree=MeSH" title="MedGen record for Visceral angiomatosis">Visceral angiomatosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/91080" ref="tree=MeSH" title="MedGen record for Hobnail hemangioma">Hobnail hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/57583" ref="tree=MeSH" title="MedGen record for Intra-abdominal hemangioma">Intra-abdominal hemangioma</a></span><ul><li><span class="TLline"><a href="/medgen/151930" ref="tree=MeSH" title="MedGen record for Splenic hemangioma">Splenic hemangioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57582" ref="tree=MeSH" title="MedGen record for Intracranial hemangioma">Intracranial hemangioma</a></span><ul><li><span class="TLline"><a href="/medgen/116075" ref="tree=MeSH" title="MedGen record for Brain hemangioma">Brain hemangioma</a></span><ul><li><span class="TLline"><a href="/medgen/164084" ref="tree=MeSH" title="MedGen record for Cerebral hemangioma">Cerebral hemangioma</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1706328" ref="tree=MeSH" title="MedGen record for Intrathoracic hemangioma">Intrathoracic hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/65122" ref="tree=MeSH" title="MedGen record for Kasabach-Merritt syndrome">Kasabach-Merritt syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1692908" ref="tree=MeSH" title="MedGen record for Kidney Hemangioma">Kidney Hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/1691308" ref="tree=MeSH" title="MedGen record for Labial hemangioma">Labial hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/1689552" ref="tree=MeSH" title="MedGen record for Laryngeal hemangioma">Laryngeal hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/1704959" ref="tree=MeSH" title="MedGen record for Lumbosacral hemangioma">Lumbosacral hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/1634380" ref="tree=MeSH" title="MedGen record for Mediastinal Hemangioma">Mediastinal Hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/66009" ref="tree=MeSH" title="MedGen record for Mucous Membrane Hemangioma">Mucous Membrane Hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/1698246" ref="tree=MeSH" title="MedGen record for Paraspinal hemangioma">Paraspinal hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/1707784" ref="tree=MeSH" title="MedGen record for Paratesticular Hemangioma">Paratesticular Hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/1618015" ref="tree=MeSH" title="MedGen record for Perineal hemangioma">Perineal hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/1692352" ref="tree=MeSH" title="MedGen record for Prostate Hemangioma">Prostate Hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/1705513" ref="tree=MeSH" title="MedGen record for Retropharyngeal hemangioma">Retropharyngeal hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/785105" ref="tree=MeSH" title="MedGen record for Salivary Gland Hemangioma">Salivary Gland Hemangioma</a></span><ul><li><span class="TLline"><a href="/medgen/233312" ref="tree=MeSH" title="MedGen record for Parotid Gland Hemangioma">Parotid Gland Hemangioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1740353" ref="tree=MeSH" title="MedGen record for Sinonasal Hemangioma">Sinonasal Hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/151951" ref="tree=MeSH" title="MedGen record for Skin hemangioma">Skin hemangioma</a></span><ul><li><span class="TLline"><a href="/medgen/75528" ref="tree=MeSH" title="MedGen record for Angioma serpiginosum">Angioma serpiginosum</a></span></li><li><span class="TLline"><a href="/medgen/1695037" ref="tree=MeSH" title="MedGen record for Penile Hemangioma">Penile Hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/235583" ref="tree=MeSH" title="MedGen record for Scrotal hemangioma">Scrotal hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/90802" ref="tree=MeSH" title="MedGen record for Verrucous hemangioma">Verrucous hemangioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/224916" ref="tree=MeSH" title="MedGen record for Spindle cell hemangioma">Spindle cell hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/21361" ref="tree=MeSH" title="MedGen record for Sturge-Weber syndrome">Sturge-Weber syndrome</a></span></li><li><span class="TLline"><a href="/medgen/234907" ref="tree=MeSH" title="MedGen record for Subglottic hemangioma">Subglottic hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/1693638" ref="tree=MeSH" title="MedGen record for Supraglottic hemangioma">Supraglottic hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/234375" ref="tree=MeSH" title="MedGen record for Synovial angioma">Synovial angioma</a></span></li><li><span class="TLline"><a href="/medgen/1667339" ref="tree=MeSH" title="MedGen record for Thyroid Gland Hemangioma">Thyroid Gland Hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/90801" ref="tree=MeSH" title="MedGen record for Venous hemangioma">Venous hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/1696187" ref="tree=MeSH" title="MedGen record for Visceral hemangioma">Visceral hemangioma</a></span><ul><li><span class="TLline"><a href="/medgen/1703456" ref="tree=MeSH" title="MedGen record for Intestinal hemangioma">Intestinal hemangioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1671038" ref="tree=MeSH" title="MedGen record for Vulvar hemangioma">Vulvar hemangioma</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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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="divPopper rprt" id="rdis_41775"><div><strong>Enchondromatosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41775</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.">C0014084</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome (614569). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987). Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; spondyloenchondrodysplasia (607944), type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/41775">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_9646"><div><strong>Angioosteohypertrophic syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9646</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.">C0022739</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues (such as skin and muscles), and bones. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations.\n\nMost people with Klippel-Trenaunay syndrome are born with a port-wine stain. This type of birthmark is caused by swelling of small blood vessels near the surface of the skin. Port-wine stains are typically flat and can vary from pale pink to deep maroon in color. In people with Klippel-Trenaunay syndrome, the port-wine stain usually covers part of one limb. The affected area may become lighter or darker with age. Occasionally, port-wine stains develop small red blisters that break open and bleed easily.\n\nKlippel-Trenaunay syndrome is also associated with overgrowth of bones and soft tissues beginning in infancy. Usually this abnormal growth is limited to one limb, most often one leg. However, overgrowth can also affect the arms or, rarely, the torso. The abnormal growth can cause pain, a feeling of heaviness, and reduced movement in the affected area. If the overgrowth causes one leg to be longer than the other, it can also lead to problems with walking.\n\nMalformations of veins are the third major feature of Klippel-Trenaunay syndrome. These abnormalities include varicose veins, which are swollen and twisted veins near the surface of the skin that often cause pain. Varicose veins usually occur on the sides of the upper legs and calves. Veins deep in the limbs can also be abnormal in people with Klippel-Trenaunay syndrome. Malformations of deep veins increase the risk of a type of blood clot called a deep vein thrombosis (DVT). If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening blood clot known as a pulmonary embolism (PE).\n\nOther complications of Klippel-Trenaunay syndrome can include a type of skin infection called cellulitis, swelling caused by a buildup of fluid (lymphedema), and internal bleeding from abnormal blood vessels. Less commonly, this condition is also associated with fusion of certain fingers or toes (syndactyly) or the presence of extra digits (polydactyly).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/9646">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_7437"><div><strong>Maffucci syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7437</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.">C0024454</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome. Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987). Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease (166000) and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; and spondyloenchondrodysplasia (607944), type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/7437">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_18419"><div><strong>Pheochromocytoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18419</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.">C0031511</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck paragangliomas [HNPGLs]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, extra-adrenal sympathetic paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCCs result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas. Additional tumors reported in individuals with hereditary PGL/PCC syndromes include gastrointestinal stromal tumors (GISTs), pulmonary chondromas, and clear cell renal cell carcinoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18419">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_39008"><div><strong>Proteus syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39008</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.">C0085261</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Proteus syndrome (PS) is characterized by progressive segmental or patchy overgrowth most commonly affecting the skeleton, skin, adipose, and central nervous systems. In most individuals PS has modest or no manifestations at birth, develops and progresses rapidly beginning in the toddler period, and relentlessly progresses through childhood, causing severe overgrowth and disfigurement. It is associated with a range of tumors, pulmonary complications, and a striking predisposition to deep vein thrombosis and pulmonary embolism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39008">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_61236"><div><strong>Aicardi syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61236</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.">C0175713</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Aicardi syndrome is a neurodevelopmental disorder that affects primarily females. Initially it was characterized by a typical triad of agenesis of the corpus callosum, central chorioretinal lacunae, and infantile spasms. As more affected individuals have been ascertained, it has become clear that not all affected girls have all three features of the classic triad and that other neurologic and systemic defects are common, including other brain malformations, optic nerve abnormalities, other seizure types, intellectual disability of varying severity, and scoliosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/61236">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_65122"><div><strong>Kasabach-Merritt syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65122</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.">C0221025</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Although cutaneous hemangiomas are common benign tumors in neonates, they can be life-threatening when they are associated with thrombocytopenia, consumptive coagulopathy, microangiopathic hemolytic anemia, and rapid enlargement, a clinical presentation known as Kasabach-Merritt syndrome (KMS). Untreated, KMS has a 10 to 37% mortality rate (Szlachetka, 1998). With giant hemangiomas in small children, thrombocytopenia and red cell changes compatible with trauma ('microangiopathic hemolytic anemia') have been observed. The mechanism of the hematologic changes is obscure. No evidence of a simple genetic basis has been discovered. Reviews Szlachetka (1998) reviewed the approximately 205 reported cases of KMS and discussed the pathophysiology, clinical manifestations, differential diagnosis, and treatment modalities of the disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65122">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82779"><div><strong>Combined deficiency of sialidase AND beta galactosidase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82779</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.">C0268233</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Galactosialidosis (GSL) is a lysosomal storage disease associated with a combined deficiency of beta-galactosidase (611458) and neuraminidase (608272), secondary to a defect in protective protein/cathepsin A (PPCA). All patients have clinical manifestations typical of a lysosomal disorder, such as coarse facies, cherry red spots, vertebral changes, foam cells in the bone marrow, and vacuolated lymphocytes. Three phenotypic subtypes are recognized. The early infantile form is associated with fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia, and early death. The late infantile type is characterized by hepatosplenomegaly, growth retardation, cardiac involvement, and rare occurrence of neurologic signs. The juvenile/adult form is characterized by myoclonus, ataxia, angiokeratoma, mental retardation, neurologic deterioration, absence of visceromegaly, and long survival. The majority of reported patients belong to the juvenile/adult group and are mainly of Japanese origin (summary by d'Azzo et al., 2001).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82779">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_83401"><div><strong>Blue rubber bleb nevus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83401</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.">C0346072</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83401">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_167073"><div><strong>Chromosome 9p deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167073</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.">C0795830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare chromosomal anomaly with characteristics of psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167073">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_226898"><div><strong>Hereditary neurocutaneous angiomata</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>226898</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.">C1275084</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic vascular anomaly characterized by the presence of angiomatous lesions affecting the skin, brain, and spinal cord. Lesions of the central nervous system have a marked tendency to bleed. There have been no further descriptions in the literature since 1988.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/226898">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_309963"><div><strong>Hereditary lymphedema type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>309963</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.">C1704423</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). Genetic Heterogeneity of Lymphatic Malformation Primary lymphedema is genetically heterogeneous: see also LMPHM2 (611944), which maps to chromosome 6q16.2-q22.1; LMPHM3 (613480), caused by mutation in the GJC2 gene (608803) on chromosome 1q42; LMPHM4 (615907), caused by mutation in the VEGFC gene (601528) on chromosome 4q34; LMPHM5 (153200); LMPHM6 (616843), caused by mutation in the PIEZO1 gene (611184) on chromosome 16q24; LMPHM7 (617300), caused by mutation in the EPHB4 gene (600011) on chromosome 7q22; LMPHM8 (618773), caused by mutation in the CALCRL gene (114190) on chromosome 2q31; LMPHM9 (619319), caused by mutation in the CELSR1 gene (604523) on chromosome 22q13; LMPHM10 (610369), caused by mutation in the ANGPT2 gene (601922) on chromosome 8p23; LMPHM11 (619401), caused by mutation in the TIE1 gene (600222) on chromosome 1p34; LMPHM12 (620014), caused by mutation in the MDFIC gene (614511) on chromosome 7q31; LMPHM13 (620244), caused by mutation in the THSD1 gene (616821) on chromosome 13q14; and LMPHM14 (620602), caused by mutation in the ERG gene (165080) on chromosome 21q22. Lymphedema can also be a feature of syndromic disorders such as lymphedema-distichiasis syndrome (153400), which is caused by mutation in the FOXC2 gene (602402), and various forms of nonimmune hydrops fetalis (NIHF; see 236750).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/309963">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_324784"><div><strong>Congenital disorder of glycosylation type 1E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324784</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.">C1837396</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin. For a discussion of the classification of CDGs, see CDG Ia (212065).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324784">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_332974"><div><strong>Chuvash polycythemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332974</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.">C1837915</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial erythrocytosis-2 (ECYT2) is an autosomal recessive disorder characterized by increased red blood cell mass, increased serum levels of erythropoietin (EPO; 133170), and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events (Cario, 2005). Familial erythrocytosis-2 has features of both primary and secondary erythrocytosis. In addition to increased circulating levels of EPO, consistent with a secondary, extrinsic process, erythroid progenitors may be hypersensitive to EPO, consistent with a primary, intrinsic process (Prchal, 2005). For a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 (133100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332974">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340513"><div><strong>Autosomal recessive omodysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340513</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.">C1850318</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Omodysplasia-1 (OMOD1) is a rare autosomal recessive skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin. Variable findings are cryptorchidism, hernias, congenital heart defects, and cognitive delay (Elcioglu et al., 2004; Albano et al., 2007). Genetic Heterogeneity of Omodysplasia Also see omodysplasia-2 (OMOD2; 164745), an autosomal dominant form of the disorder in which abnormalities are limited to the upper limbs. The facial changes and typical growth defect of the distal humerus with complex deformity of the elbows appear to be similar in both entities (Baxova et al., 1994).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340513">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355927"><div><strong>Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355927</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.">C1865181</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is a rare developmental defect during embryogenesis disorder characterized by macroblepharon, ectropion, and facial dysmorphism which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, increased density of upper eyelashes, anterverted nares, abnormal dentition and capillary hemangioma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355927">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_408255"><div><strong>4p partial monosomy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>408255</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.">C1956097</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/408255">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482831"><div><strong>Coffin-Siris syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482831</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.">C3281201</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Other findings commonly include feeding difficulties, slow growth, ophthalmologic abnormalities, and hearing impairment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482831">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815337"><div><strong>Cardiofaciocutaneous syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815337</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.">C3809007</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, and woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Affected individuals typically have some form of neurologic and/or cognitive delay (ranging from mild to severe). Most individuals have severe feeding issues, which can contribute to poor growth, and many require nasogastric or gastrostomy tube feeding. Many affected individuals have eye findings, including strabismus, nystagmus, refractive errors, and optic nerve hypoplasia. Seizures may be present and can be refractory to therapy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815337">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_908796"><div><strong>Cowden syndrome 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>908796</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.">C4225179</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cowden syndrome is a genetic disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.\n\nAlmost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties.\n\nCowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include kidney cancer, colorectal cancer, and an agressive form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. People with Cowden syndrome are also more likely to develop more than one cancer during their lifetimes compared to the general population. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development, intellectual disability, or autism spectrum disorder, which can affect communication and social interaction.\n\nSome people do not meet the strict criteria for a clinical diagnosis of Cowden syndrome, but they have some of the characteristic features of the condition, particularly the cancers. These individuals are often described as having Cowden-like syndrome. Both Cowden syndrome and Cowden-like syndrome are caused by mutations in the same genes.\n\n\n\nThe features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors. Some people with Cowden syndrome have relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other affected individuals have the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome (named for the genetic cause of the conditions) instead of two distinct conditions.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/908796">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1379805"><div><strong>Noonan syndrome-like disorder with loose anagen hair 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1379805</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.">C4478716</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (163950), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see 139250) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017). Reviews Komatsuzaki et al. (2010) reviewed the clinical manifestations of patients with Noonan syndrome, Costello syndrome (218040), and cardiofaciocutaneous syndrome (CFC; see 115150) compared to patients with mutations in the SHOC2 gene. They noted that although there is phenotypic overlap among the disorders, loose anagen/easily pluckable hair had not been reported in mutation-positive patients with Noonan, CFC, or Costello syndrome, and appeared to be a distinctive feature of SHOC2 mutation-positive patients. Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen Hair NSLH2 (617506) is caused by mutation in the PPP1CB gene (600590) on chromosome 2p23.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1379805">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1646345"><div><strong>Linear nevus sebaceous syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646345</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.">C4552097</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al., 2007). The linear sebaceous nevi follow the lines of Blaschko (Hornstein and Knickenberg, 1974; Bouwes Bavinck and van de Kamp, 1985). All cases are sporadic. The syndrome is believed to be caused by an autosomal dominant lethal mutation that survives by somatic mosaicism (Gorlin et al., 2001).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646345">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1682403"><div><strong>Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1682403</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.">C5193134</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Stolerman neurodevelopmental syndrome (NEDSST) is a highly variable disorder characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including autism spectrum disorder. Psychosis is observed in a small percentage of individuals over the age of 12 years. Most individuals have nonspecific and mild dysmorphic facial features without a common gestalt. A subset of patients may have involvement of other organ systems, including gastrointestinal with poor early feeding or gastroesophageal reflux, distal skeletal anomalies, and congenital heart defects. Most mutations occur de novo, but rare autosomal dominant inheritance with incomplete penetrance has been observed (Stolerman et al., 2019; Rots et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1682403">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684820"><div><strong>Basilicata-Akhtar syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684820</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.">C5231394</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Basilicata-Akhtar syndrome (MRXSBA) is characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech. Most patients are able to walk, although they may have an unsteady gait or spasticity. Additional findings include dysmorphic facial features and mild distal skeletal anomalies. Males and females are similarly affected (summary by Basilicata et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684820">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1778557"><div><strong>Radio-Tartaglia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1778557</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.">C5543339</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Radio-Tartaglia syndrome (RATARS) is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, and variable behavioral abnormalities. Affected individuals show hypotonia, mild motor difficulties, and craniofacial dysmorphism. Brain imaging may show nonspecific defects; rare patients have seizures or pyramidal signs. A subset of individuals may have congenital heart defects, precocious puberty, and obesity in females. Some of the features are similar to those observed in patients with chromosome 1p36 deletion syndrome (607872) (summary by Radio et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1778557">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1809351"><div><strong>Developmental and epileptic encephalopathy 100</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1809351</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.">C5676932</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-100 (DEE100) is a severe neurologic disorder characterized by global developmental delay and onset of variable types of seizures in the first months or years of life. Most patients have refractory seizures and show developmental regression after seizure onset. Affected individuals have ataxic gait or inability to walk and severe to profoundly impaired intellectual development, often with absent speech. Additional more variable features may include axial hypotonia, hyperkinetic movements, dysmorphic facial features, and brain imaging abnormalities (summary by Schneider et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1809351">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824083"><div><strong>Tessadori-Van Haaften neurodevelopmental syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824083</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.">C5774310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tessadori-Bicknell-van Haaften neurodevelopmental syndrome-3 (TEBIVANED3) is characterized by global developmental delay with poor overall growth, impaired intellectual development, and speech difficulties. More variable features include hypotonia, microcephaly, and dysmorphic facies. The severity and manifestations of the disorder are highly variable (Tessadori et al., 2022). For a discussion of genetic heterogeneity of Tessadori-Bicknell-van Haaften neurodevelopmental disorder, see TEBIVANED1 (619758).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824083">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1840915"><div><strong>Lymphatic malformation 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840915</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.">C5830279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lymphatic malformation-13 (LMPHM13) is characterized by the presence of nonimmune hydrops fetalis which often resolves with age. Capillary or cavernous hemangiomas are present in most patients, as are cardiac defects, often mild (Abdelrahman et al., 2018). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1840915">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1854360"><div><strong>Jeffries-Lakhani neurodevelopmental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854360</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.">C5935596</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Jeffries-Lakhani neurodevelopmental syndrome (JELANS) is an autosomal recessive disorder characterized by hypotonia, early-onset seizures, and global developmental delay apparent from infancy. Affected individuals have motor delay, speech delay, and impaired intellectual development, and about half of patients are nonambulatory and/or nonverbal. Some patients have cardiac arrhythmia, but congenital cardiac septal defects are only rarely observed. Additional features may include feeding difficulties, recurrent infections, ocular defects, and nonspecific dysmorphic features. Premature death due to cardiac arrhythmia or epilepsy may occur (Jeffries et al., 2024).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1854360">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_408255" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">4p partial monosomy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_61236" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aicardi syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_9646" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Angioosteohypertrophic syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340513" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive omodysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684820" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Basilicata-Akhtar syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (29)', 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_83401" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blue rubber bleb nevus</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiofaciocutaneous syndrome 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_167073" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 9p deletion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332974" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chuvash polycythemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482831" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coffin-Siris syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined deficiency of sialidase AND beta galactosidase</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324784" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital disorder of glycosylation type 1E</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_908796" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cowden syndrome 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1809351" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy 100</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_41775" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Enchondromatosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_309963" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary lymphedema type I</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_226898" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary neurocutaneous angiomata</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Jeffries-Lakhani neurodevelopmental syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_65122" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kasabach-Merritt syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1646345" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Linear nevus sebaceous syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840915" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphatic malformation 13</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_7437" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Maffucci syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355927" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1682403" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1379805" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome-like disorder with loose anagen hair 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_18419" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pheochromocytoma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_39008" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteus syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1778557" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Radio-Tartaglia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tessadori-Van Haaften neurodevelopmental syndrome 3</a></div></span></div></div>
|
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</div>
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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/38958301">ACG Clinical Guideline: Focal Liver Lesions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frenette C,
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Mendiratta-Lala M,
|
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Salgia R,
|
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Wong RJ,
|
||
Sauer BG,
|
||
Pillai A</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2024 Jul 1;119(7):1235-1271.
|
||
Epub 2024 Jan 26
|
||
doi: 10.14309/ajg.0000000000002857.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38958301" target="_blank">38958301</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34419523">Infantile hemangioma. Part 2: Management.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sebaratnam DF,
|
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Rodríguez Bandera AL,
|
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Wong LF,
|
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Wargon O</span><br />
|
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<span class="medgenPMjournal">J Am Acad Dermatol</span>
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2021 Dec;85(6):1395-1404.
|
||
Epub 2021 Aug 19
|
||
doi: 10.1016/j.jaad.2021.08.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34419523" target="_blank">34419523</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27659028">PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garzon MC,
|
||
Epstein LG,
|
||
Heyer GL,
|
||
Frommelt PC,
|
||
Orbach DB,
|
||
Baylis AL,
|
||
Blei F,
|
||
Burrows PE,
|
||
Chamlin SL,
|
||
Chun RH,
|
||
Hess CP,
|
||
Joachim S,
|
||
Johnson K,
|
||
Kim W,
|
||
Liang MG,
|
||
Maheshwari M,
|
||
McCoy GN,
|
||
Metry DW,
|
||
Monrad PA,
|
||
Pope E,
|
||
Powell J,
|
||
Shwayder TA,
|
||
Siegel DH,
|
||
Tollefson MM,
|
||
Vadivelu S,
|
||
Lew SM,
|
||
Frieden IJ,
|
||
Drolet BA</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2016 Nov;178:24-33.e2.
|
||
Epub 2016 Sep 19
|
||
doi: 10.1016/j.jpeds.2016.07.054.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27659028" target="_blank">27659028</a><a href="/pmc/articles/PMC6599593" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hemangioma%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 (618)</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/38541175">Hepatic Hemangioma: Review of Imaging and Therapeutic Strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kacała A,
|
||
Dorochowicz M,
|
||
Matus I,
|
||
Puła M,
|
||
Korbecki A,
|
||
Sobański M,
|
||
Jacków-Nowicka J,
|
||
Patrzałek D,
|
||
Janczak D,
|
||
Guziński M</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2024 Mar 8;60(3)
|
||
doi: 10.3390/medicina60030449.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38541175" target="_blank">38541175</a><a href="/pmc/articles/PMC10972168" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36690143">Vascular Malformations: A Histopathologic and Conceptual Appraisal.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fernandez-Flores A,
|
||
Cassarino D,
|
||
Colmenero I</span><br />
|
||
<span class="medgenPMjournal">Actas Dermosifiliogr</span>
|
||
2023 Mar;114(3):T213-T228.
|
||
Epub 2023 Jan 20
|
||
doi: 10.1016/j.ad.2022.10.039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36690143" target="_blank">36690143</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30819347">Diagnosis and Management of Infantile Hemangiomas in the Neonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harter N,
|
||
Mancini AJ</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2019 Apr;66(2):437-459.
|
||
doi: 10.1016/j.pcl.2018.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30819347" target="_blank">30819347</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28207019">Congenital hemangioma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amouri M,
|
||
Mesrati H,
|
||
Chaaben H,
|
||
Masmoudi A,
|
||
Mseddi M,
|
||
Turki H</span><br />
|
||
<span class="medgenPMjournal">Cutis</span>
|
||
2017 Jan;99(1):E31-E33.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28207019" target="_blank">28207019</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20888458">Infantile hemangioma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holland KE,
|
||
Drolet BA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2010 Oct;57(5):1069-83.
|
||
Epub 2010 Aug 21
|
||
doi: 10.1016/j.pcl.2010.07.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20888458" target="_blank">20888458</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemangioma%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 (5366)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36058589">Anastomosing Hemangioma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen B,
|
||
Guo R,
|
||
Erickson LA</span><br />
|
||
<span class="medgenPMjournal">Mayo Clin Proc</span>
|
||
2022 Sep;97(9):1756-1757.
|
||
doi: 10.1016/j.mayocp.2022.07.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36058589" target="_blank">36058589</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35271812">Iris Racemose Hemangioma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kalafatis N,
|
||
Sarici K,
|
||
Shields CL</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2022 Jul;239:e1.
|
||
Epub 2022 Mar 7
|
||
doi: 10.1016/j.ajo.2022.02.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35271812" target="_blank">35271812</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34419524">Infantile hemangioma. Part 1: Epidemiology, pathogenesis, clinical presentation and assessment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodríguez Bandera AI,
|
||
Sebaratnam DF,
|
||
Wargon O,
|
||
Wong LF</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2021 Dec;85(6):1379-1392.
|
||
Epub 2021 Aug 19
|
||
doi: 10.1016/j.jaad.2021.08.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34419524" target="_blank">34419524</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31807282">Hemangioma: Recent Advances.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DeHart A,
|
||
Richter G</span><br />
|
||
<span class="medgenPMjournal">F1000Res</span>
|
||
2019;8
|
||
Epub 2019 Nov 18
|
||
doi: 10.12688/f1000research.20152.1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31807282" target="_blank">31807282</a><a href="/pmc/articles/PMC6871355" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30504955">Infantile Hepatic Hemangioma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shabbir Z,
|
||
Javaid A;
|
||
Islah Ud Din</span><br />
|
||
<span class="medgenPMjournal">J Pak Med Assoc</span>
|
||
2018 Dec;68(12):1846-1847.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30504955" target="_blank">30504955</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemangioma%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 (11689)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36243426">Infantile Hemangiomas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hasbani DJ,
|
||
Hamie L</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2022 Oct;40(4):383-392.
|
||
Epub 2022 Sep 16
|
||
doi: 10.1016/j.det.2022.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36243426" target="_blank">36243426</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32384034">Infantile Hemangioma: An Updated Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leung AKC,
|
||
Lam JM,
|
||
Leong KF,
|
||
Hon KL</span><br />
|
||
<span class="medgenPMjournal">Curr Pediatr Rev</span>
|
||
2021;17(1):55-69.
|
||
doi: 10.2174/1573396316666200508100038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32384034" target="_blank">32384034</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30909834">Familial Cerebral Cavernous Malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zafar A,
|
||
Quadri SA,
|
||
Farooqui M,
|
||
Ikram A,
|
||
Robinson M,
|
||
Hart BL,
|
||
Mabray MC,
|
||
Vigil C,
|
||
Tang AT,
|
||
Kahn ML,
|
||
Yonas H,
|
||
Lawton MT,
|
||
Kim H,
|
||
Morrison L</span><br />
|
||
<span class="medgenPMjournal">Stroke</span>
|
||
2019 May;50(5):1294-1301.
|
||
doi: 10.1161/STROKEAHA.118.022314.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30909834" target="_blank">30909834</a><a href="/pmc/articles/PMC6924279" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10403856">Hemangiomas in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Drolet BA,
|
||
Esterly NB,
|
||
Frieden IJ</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1999 Jul 15;341(3):173-81.
|
||
doi: 10.1056/NEJM199907153410307.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10403856" target="_blank">10403856</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4873079">Methotrexate in dermatology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Burrows D,
|
||
Shanks RG,
|
||
Stevenson CJ</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
1968 May;80(5):348-52.
|
||
doi: 10.1111/j.1365-2133.1968.tb12317.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4873079" target="_blank">4873079</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemangioma%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 (3514)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28552146">Epidemiology of cavernous malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goldstein HE,
|
||
Solomon RA</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2017;143:241-247.
|
||
doi: 10.1016/B978-0-444-63640-9.00023-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28552146" target="_blank">28552146</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28207019">Congenital hemangioma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amouri M,
|
||
Mesrati H,
|
||
Chaaben H,
|
||
Masmoudi A,
|
||
Mseddi M,
|
||
Turki H</span><br />
|
||
<span class="medgenPMjournal">Cutis</span>
|
||
2017 Jan;99(1):E31-E33.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28207019" target="_blank">28207019</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27820777">CAVERNOUS HEMANGIOMA OF THE RETINA: A Comprehensive Review of the Literature (1934-2015).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang W,
|
||
Chen L</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
2017 Apr;37(4):611-621.
|
||
doi: 10.1097/IAE.0000000000001374.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27820777" target="_blank">27820777</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24334427">Placental chorioangioma: literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fan M,
|
||
Skupski DW</span><br />
|
||
<span class="medgenPMjournal">J Perinat Med</span>
|
||
2014 May;42(3):273-9.
|
||
doi: 10.1515/jpm-2013-0170.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24334427" target="_blank">24334427</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11307096">Hemangioma of the spleen: presentation, diagnosis, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Willcox TM,
|
||
Speer RW,
|
||
Schlinkert RT,
|
||
Sarr MG</span><br />
|
||
<span class="medgenPMjournal">J Gastrointest Surg</span>
|
||
2000 Nov-Dec;4(6):611-3.
|
||
doi: 10.1016/s1091-255x(00)80110-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11307096" target="_blank">11307096</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemangioma%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 (3657)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31009688">Hepatic complications of oral contraceptive pills and estrogen on MRI: Controversies and update - Adenoma and beyond.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ponnatapura J,
|
||
Kielar A,
|
||
Burke LMB,
|
||
Lockhart ME,
|
||
Abualruz AR,
|
||
Tappouni R,
|
||
Lalwani N</span><br />
|
||
<span class="medgenPMjournal">Magn Reson Imaging</span>
|
||
2019 Jul;60:110-121.
|
||
Epub 2019 Apr 19
|
||
doi: 10.1016/j.mri.2019.04.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31009688" target="_blank">31009688</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30447516">Vascular malformation in a bicuspid aortic valve.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cotier P,
|
||
Bruneval P,
|
||
Amemiya K</span><br />
|
||
<span class="medgenPMjournal">Cardiovasc Pathol</span>
|
||
2019 Jan-Feb;38:39-41.
|
||
Epub 2018 Oct 24
|
||
doi: 10.1016/j.carpath.2018.10.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30447516" target="_blank">30447516</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22381871">Surgical treatment and long-term outcomes of thalamic cavernous malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li D,
|
||
Zhang J,
|
||
Hao S,
|
||
Tang J,
|
||
Xiao X,
|
||
Wu Z,
|
||
Zhang L</span><br />
|
||
<span class="medgenPMjournal">World Neurosurg</span>
|
||
2013 May-Jun;79(5-6):704-13.
|
||
Epub 2012 Jan 26
|
||
doi: 10.1016/j.wneu.2012.01.037.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22381871" target="_blank">22381871</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22951066">Internal jugular vein hemangioma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Natour M,
|
||
Kenmuir C,
|
||
Khuder S,
|
||
Kazan V,
|
||
Abbas J,
|
||
Nazzal M</span><br />
|
||
<span class="medgenPMjournal">Ann Vasc Surg</span>
|
||
2012 Nov;26(8):1129.e1-4.
|
||
Epub 2012 Aug 27
|
||
doi: 10.1016/j.avsg.2012.03.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22951066" target="_blank">22951066</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19050659">Symptomatic brainstem cavernomas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hauck EF,
|
||
Barnett SL,
|
||
White JA,
|
||
Samson D</span><br />
|
||
<span class="medgenPMjournal">Neurosurgery</span>
|
||
2009 Jan;64(1):61-70; discussion 70-1.
|
||
doi: 10.1227/01.NEU.0000335158.11692.53.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19050659" target="_blank">19050659</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemangioma%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 (3074)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/35764772">Clinical Pharmacokinetics of Metoprolol: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zamir A,
|
||
Hussain I,
|
||
Ur Rehman A,
|
||
Ashraf W,
|
||
Imran I,
|
||
Saeed H,
|
||
Majeed A,
|
||
Alqahtani F,
|
||
Rasool MF</span><br />
|
||
<span class="medgenPMjournal">Clin Pharmacokinet</span>
|
||
2022 Aug;61(8):1095-1114.
|
||
Epub 2022 Jun 28
|
||
doi: 10.1007/s40262-022-01145-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35764772" target="_blank">35764772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35705835">A Comprehensive Review of Hepatic Hemangioma Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aziz H,
|
||
Brown ZJ,
|
||
Baghdadi A,
|
||
Kamel IR,
|
||
Pawlik TM</span><br />
|
||
<span class="medgenPMjournal">J Gastrointest Surg</span>
|
||
2022 Sep;26(9):1998-2007.
|
||
Epub 2022 Jun 15
|
||
doi: 10.1007/s11605-022-05382-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35705835" target="_blank">35705835</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31599787">Primary Hand Leiomyoma: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oliver JD,
|
||
Boczar D,
|
||
Huayllani MT,
|
||
Restrepo DJ,
|
||
Sisti A,
|
||
Manrique OJ,
|
||
Broer PN,
|
||
Forte AJ</span><br />
|
||
<span class="medgenPMjournal">Ann Plast Surg</span>
|
||
2019 Dec;83(6):e77-e84.
|
||
doi: 10.1097/SAP.0000000000002004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31599787" target="_blank">31599787</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29569772">Topical propranolol for infantile haemangiomas: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Price A,
|
||
Rai S,
|
||
Mcleod RWJ,
|
||
Birchall JC,
|
||
Elhassan HA</span><br />
|
||
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
|
||
2018 Dec;32(12):2083-2089.
|
||
Epub 2018 May 3
|
||
doi: 10.1111/jdv.14963.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29569772" target="_blank">29569772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28387823">Synopsis of Guidelines for the Clinical Management of Cerebral Cavernous Malformations: Consensus Recommendations Based on Systematic Literature Review by the Angioma Alliance Scientific Advisory Board Clinical Experts Panel.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akers A,
|
||
Al-Shahi Salman R,
|
||
A Awad I,
|
||
Dahlem K,
|
||
Flemming K,
|
||
Hart B,
|
||
Kim H,
|
||
Jusue-Torres I,
|
||
Kondziolka D,
|
||
Lee C,
|
||
Morrison L,
|
||
Rigamonti D,
|
||
Rebeiz T,
|
||
Tournier-Lasserve E,
|
||
Waggoner D,
|
||
Whitehead K</span><br />
|
||
<span class="medgenPMjournal">Neurosurgery</span>
|
||
2017 May 1;80(5):665-680.
|
||
doi: 10.1093/neuros/nyx091.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28387823" target="_blank">28387823</a><a href="/pmc/articles/PMC5808153" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemangioma%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 (138)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
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||
|
||
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|
||
<div class=" bottom">
|
||
|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
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||
<div class="rightCol mgCol">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0018916%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C0018916%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (9)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0018916%5bDISCUI%5d" target="_blank">See all (10)</a></total></li>
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</ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Hemangioma" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=(%22hemangioma%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(%22Hemangioma%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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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Hemangioma" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/10759/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
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<div class="portlet brieflink">
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<h3>Reviews</h3>
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<ul>
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<li>
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<a href="/pubmed/clinical?term=Hemangioma" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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|
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<a href="/pubmed?term=Hemangioma%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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<h3>Related information</h3>
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||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=5477" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0018916[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0018916[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
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</li>
|
||
<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=5477" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=5477" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=5477" ref="log$=recordlinks">PubMed</a>
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|
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|
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<h3>Recent activity</h3>
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Clear
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Turn On
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<ul id="activity">
|
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<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d2df512f30673f7b53f85c">Hemangioma</a>
|
||
<div class="ralinkpop offscreen_noflow">Hemangioma<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
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</li>
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||
<li class="ra_rcd ralinkpopper two_line">
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||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d2df4ecde49f3df73a97a9">Carcinoma</a>
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<div class="ralinkpop offscreen_noflow">Carcinoma<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d2df4a67c23b31e0218429">Aicardi Syndrome - GeneReviews®</a>
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<div class="ralinkpop offscreen_noflow">Aicardi Syndrome - GeneReviews®<div class="brieflinkpopdesc"></div></div>
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||
<div class="tertiary"></div>
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||
</li>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d2df49cde49f3df73a772c">X-linked dominant inheritance</a>
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<div class="ralinkpop offscreen_noflow">X-linked dominant inheritance<div class="brieflinkpopdesc"></div></div>
|
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<div class="tertiary">MedGen</div>
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</li>
|
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<li class="ra_rcd ralinkpopper two_line">
|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d2df3fcde49f3df73a2213">Table B. [OMIM Entries for Aicardi Syndrome (View All in OMIM)]. - GeneReviews®</a>
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