{"id":575,"date":"2024-01-09T15:26:26","date_gmt":"2024-01-09T21:26:26","guid":{"rendered":"https:\/\/wp.uthscsa.edu\/chromosome-18\/?page_id=575"},"modified":"2024-01-18T09:41:56","modified_gmt":"2024-01-18T15:41:56","slug":"ring-18-distal-treatment-and-surveillance","status":"publish","type":"page","link":"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/ring-18-distal-treatment-and-surveillance\/","title":{"rendered":"Ring 18 Distal- Treatment and Surveillance"},"content":{"rendered":"<div class=\"wpb-content-wrapper\"><p>[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_single_image image=&#8221;810&#8243; img_size=&#8221;full&#8221;][vc_column_text]ICD-10 = Q99.9 or Q93.89<\/p>\n<p>These recommendations are inclusive of the entire population of people with Distal 18q deletions even though each person has a unique deletion. Therefore each person\u2019s deletion could have different genes that are hemizygous. The specific hemizygous genes for an individual patient will dictate the probability of particular phenotypes. Guidance for creating an individualized plan for evaluation and management based on the person\u2019s specific deletion can be found in the next section. However, the information in this document encompasses the global distal 18q- evaluation and management plan.<\/p>\n<p><strong>Potential conditions in a neonate<\/strong><\/p>\n<ul>\n<li>Structural\n<ul>\n<li>Hernias (inguinal, umbilical)<\/li>\n<li>Cryptorchidism, chordee, and hypospadias<br \/>\nin &gt;50% of males<\/li>\n<li>Palate abnormality<\/li>\n<\/ul>\n<\/li>\n<li>Functional\n<ul>\n<li>Respiratory and feeding difficulties<\/li>\n<li>Hypotonia<\/li>\n<\/ul>\n<\/li>\n<li>Biochemical\n<ul>\n<li>Jaundice<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p><strong>Initial evaluations after diagnosis<\/strong><\/p>\n<ul>\n<li>Cardiology evaluation \u2013 29% have cardiac defects<\/li>\n<li>Orthopedic exam \u2013 74% with foot defects<\/li>\n<li>Otolaryngology including audiology evaluation<br \/>\n&gt;50% with hearing loss<\/li>\n<li>Thyroid levels \u2013 15% with hypothyroidism<\/li>\n<li>Renal ultrasound -18% with reflux or malformations<\/li>\n<li>Ophthalmology exam \u2013 72% with optic problems<\/li>\n<li>Genitourinary<\/li>\n<li>Neurology\/cerebral MRI evaluation<\/li>\n<li>Pediatric anesthesiology if surgery is indicated<\/li>\n<\/ul>\n<p><strong>Referrals to<\/strong><\/p>\n<ul>\n<li>Appropriate sub-specialist as indicated<br \/>\nby initial evaluations<\/li>\n<li>Genetics Follow-up\n<ul>\n<li>Parents genotyped for balanced<br \/>\nrearrangements<\/li>\n<\/ul>\n<\/li>\n<li>Early intervention\/developmental services<\/li>\n<li>The Chromosome 18 Registry &amp; Research Society<\/li>\n<li>The Chromosome 18 Clinical Research Center<\/li>\n<\/ul>\n<p><strong>Closely monitor and manage<\/strong><\/p>\n<ul>\n<li>Failure to thrive\/growth failure\n<ul>\n<li>Weight gain<\/li>\n<li>Linear growth<\/li>\n<li>Sinus\/ear infections<\/li>\n<\/ul>\n<\/li>\n<li>Genitourinary\n<ul>\n<li>Reflux<\/li>\n<\/ul>\n<\/li>\n<li>Immunology\/Rheumatology\n<ul>\n<li>IgA deficiency<\/li>\n<li>Atopic disorders<\/li>\n<li>Arthritis<\/li>\n<li>Other autoimmune conditions<\/li>\n<\/ul>\n<\/li>\n<li>Neurology\n<ul>\n<li>Seizure disorder<\/li>\n<li>Intention tremors<\/li>\n<li>Hypotonia<\/li>\n<\/ul>\n<\/li>\n<li>Orthopedics\n<ul>\n<li>Scoliosis or kyphosis<\/li>\n<\/ul>\n<\/li>\n<li>Development\n<ul>\n<li>Milestones<\/li>\n<li>School performance<\/li>\n<li>Behavioral\/mood changes<\/li>\n<\/ul>\n<\/li>\n<li>Annual Screenings\n<ul>\n<li>Thyroid<\/li>\n<li>Vision<\/li>\n<li>Hearing<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>[\/vc_column_text][\/vc_column][vc_column width=&#8221;1\/3&#8243;]<nav id=\"subnav\" class=\"null\" aria-label=\"Sub navigation for Chromosome 18 Subnav\"><ul id=\"menu-chromosome-18-subnav\" class=\"subnav vertical menu drilldown\" data-drilldown><li id=\"menu-item-506\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-home menu-item-506\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/\">Home<\/a><\/li>\n<li id=\"menu-item-507\" class=\"menu-item menu-item-type-post_type menu-item-object-page 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href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/research-1\/gene-dosage-track-legend\/\">Gene Dosage Track Legend<\/a><\/li>\n\t<li id=\"menu-item-648\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-648\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/research-1\/path-to-treatment\/\">Path to Treatment<\/a><\/li>\n\t<li id=\"menu-item-649\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-649\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/?page_id=561\">Phenotype Track<\/a>\n\t<ul class=\"sub-menu\">\n\t\t<li id=\"menu-item-858\" class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-858\"><a href=\"https:\/\/genome.ucsc.edu\/cgi-bin\/hgTracks?db=hg19&#038;lastVirtModeType=default&#038;lastVirtModeExtraState=&#038;virtModeType=default&#038;virtMode=0&#038;nonVirtPosition=&#038;position=chr18%3A1%2D78077248&#038;hgsid=1884264926_hn6iHMJzv9LO3nFmOdJiwp3soiMC\">Phenotype Deletion Map<\/a><\/li>\n\t\t<li id=\"menu-item-859\" class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-859\"><a href=\"https:\/\/genome.ucsc.edu\/cgi-bin\/hgTracks?db=hg19&#038;lastVirtModeType=default&#038;lastVirtModeExtraState=&#038;virtModeType=default&#038;virtMode=0&#038;nonVirtPosition=&#038;position=chr18%3A1%2D78077248&#038;hgsid=1884265652_EZW3C1gYccZy8K8mq1vjkNvPnA1w\">Phenotype Duplication Map<\/a><\/li>\n\t<\/ul>\n<\/li>\n\t<li id=\"menu-item-735\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-735\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/research-1\/publications\/\">Publications<\/a><\/li>\n<\/ul>\n<\/li>\n<li id=\"menu-item-509\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-509\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/our-program\/\">Our Program<\/a>\n<ul class=\"sub-menu\">\n\t<li id=\"menu-item-650\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-650\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/our-program\/current-studies\/\">Current Studies<\/a><\/li>\n<\/ul>\n<\/li>\n<li id=\"menu-item-510\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-510\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/enrollment\/\">Enrollment<\/a><\/li>\n<li id=\"menu-item-511\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-511\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/\">Resources<\/a>\n<ul class=\"sub-menu\">\n\t<li id=\"menu-item-651\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-651\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/\">Clinical Management Guides<\/a>\n\t<ul class=\"sub-menu\">\n\t\t<li id=\"menu-item-666\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-666\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/18q-summary\/\">What is 18q: A Sixty-Second Summary<\/a><\/li>\n\t\t<li id=\"menu-item-656\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-656\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/distal-18q-treatment-and-surveillance\/\">Distal 18q- Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-657\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-657\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/proximal-18q-treatment-and-surveillance\/\">Proximal 18q- Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-667\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-667\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/ring-18-summary\/\">What is Ring 18: A Sixty-Second Summary<\/a><\/li>\n\t\t<li id=\"menu-item-659\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-659\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/ring-18-treatment-and-surveillance-2\/\">Ring 18- Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-850\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-850\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/ring-18-distal-treatment-and-surveillance\/\">Ring 18 Distal- Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-665\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-665\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/18p-summary\/\">What is 18p: A Sixty-Second Summary<\/a><\/li>\n\t\t<li id=\"menu-item-655\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-655\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/18p-treatment-surveillance\/\">18p- Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-660\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-660\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/tetrasomy-18p-summary\/\">Tetrasomy 18p: Sixty-Second Summary<\/a>\n\t\t<ul class=\"sub-menu\">\n\t\t\t<li id=\"menu-item-662\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-662\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/tetrasomy-18p-treatment-and-surveillance-2\/initial-evaluations\/\">Initial Evaluations After Diagnosis<\/a><\/li>\n\t\t\t<li id=\"menu-item-663\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-663\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/tetrasomy-18p-treatment-and-surveillance-2\/potential-conditions\/\">Potential Conditions in a Neonate<\/a><\/li>\n\t\t\t<li id=\"menu-item-661\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-661\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/tetrasomy-18p-treatment-and-surveillance-2\/immediate-referrals\/\">Immediate Referrals to<\/a><\/li>\n\t\t<\/ul>\n<\/li>\n\t\t<li id=\"menu-item-851\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-851\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/tetrasomy-18p-treatment-and-surveillance-2\/\">Tetrasomy 18p: Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-668\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-668\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/trisomy-18p-summary\/\">What is Trisomy 18p: A Sixty-Second Summary<\/a><\/li>\n\t\t<li id=\"menu-item-664\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-664\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/trisomy-18p-treatment-and-surveillance\/\">Trisomy 18p: Treatment and Surveillance<\/a><\/li>\n\t<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n<li id=\"menu-item-512\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-512\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/contact-us\/\">Contact Us<\/a><\/li>\n<li id=\"menu-item-669\" class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-669\"><a href=\"https:\/\/www.chromosome18.org\/\">Chromosome 18 Registry &amp; Research Society<\/a><\/li>\n<\/ul><\/nav>[\/vc_column][\/vc_row]<\/p>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_single_image image=&#8221;810&#8243; img_size=&#8221;full&#8221;][vc_column_text]ICD-10 = Q99.9 or Q93.89 These recommendations are inclusive of the entire population of people with Distal 18q deletions even though each person has a unique deletion. Therefore each person\u2019s deletion could have different genes that are hemizygous. The specific hemizygous genes for an individual patient will dictate the probability of particular [&hellip;]<\/p>\n","protected":false},"author":326,"featured_media":398,"parent":569,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"page-templates\/basic-page.php","meta":{"footnotes":""},"categories":[],"class_list":["post-575","page","type-page","status-publish","has-post-thumbnail","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.0 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Ring 18 Distal- Treatment and Surveillance - Chromosome 18<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/ring-18-distal-treatment-and-surveillance\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Ring 18 Distal- Treatment and Surveillance - Chromosome 18\" \/>\n<meta property=\"og:description\" content=\"[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_single_image image=&#8221;810&#8243; img_size=&#8221;full&#8221;][vc_column_text]ICD-10 = Q99.9 or Q93.89 These recommendations are inclusive of the entire population of people with Distal 18q deletions even though each person has a unique deletion. Therefore each person\u2019s deletion could have different genes that are hemizygous. The specific hemizygous genes for an individual patient will dictate the probability of particular [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/ring-18-distal-treatment-and-surveillance\/\" \/>\n<meta property=\"og:site_name\" content=\"Chromosome 18\" \/>\n<meta property=\"article:modified_time\" content=\"2024-01-18T15:41:56+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/wp-content\/uploads\/sites\/247\/2022\/04\/1650.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1000\" \/>\n\t<meta property=\"og:image:height\" content=\"667\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data1\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/wp.uthscsa.edu\\\/chromosome-18\\\/resources\\\/clinical-management-guides\\\/ring-18-distal-treatment-and-surveillance\\\/\",\"url\":\"https:\\\/\\\/wp.uthscsa.edu\\\/chromosome-18\\\/resources\\\/clinical-management-guides\\\/ring-18-distal-treatment-and-surveillance\\\/\",\"name\":\"Ring 18 Distal- Treatment and Surveillance - 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