{"id":6249,"date":"2022-04-21T11:36:59","date_gmt":"2022-04-21T10:36:59","guid":{"rendered":"https:\/\/www.sense.org.uk\/?page_id=6249"},"modified":"2023-08-14T10:52:48","modified_gmt":"2023-08-14T09:52:48","slug":"charge-syndrome-cause-and-diagnosis","status":"publish","type":"page","link":"https:\/\/www.sense.org.uk\/information-and-advice\/conditions\/charge-syndrome\/charge-syndrome-cause-and-diagnosis\/","title":{"rendered":"CHARGE syndrome: cause and diagnosis"},"content":{"rendered":"\n<p class=\"is-style-intro\">This page is about the cause of <a href=\"https:\/\/www.sense.org.uk\/information-and-advice\/conditions\/charge-syndrome\/what-is-charge-syndrome\/\">CHARGE syndrome<\/a> and how the condition is diagnosed.<\/p>\n\n\n\n<p>It covers the main known genetic cause, whether the condition can be inherited, the major and minor features for diagnosis, genetic testing, prenatal diagnosis and genetic counselling.<\/p>\n\n\n\n<p>You\u2019ll also find useful links to more detailed information on some of the symptoms included here.<\/p>\n\n\n\n<p>On this page:<\/p>\n\n\n\n<ul class=\"is-style-primary-bullets wp-block-list\">\n<li><a href=\"#what\">What causes CHARGE syndrome?<\/a><\/li>\n\n\n\n<li><a href=\"#inherit\">Can you inherit CHARGE syndrome?<\/a><\/li>\n\n\n\n<li><a href=\"#can-i\">Can I pass CHARGE syndrome to my children?<\/a><\/li>\n\n\n\n<li><a href=\"#diagnosed\">How is CHARGE syndrome diagnosed?<\/a><\/li>\n\n\n\n<li><a href=\"#genetic\">Genetic testing<\/a><\/li>\n<\/ul>\n\n\n\n  <div class=\"wp-block  box    is-style-textured-primary-tint-10  align-right  size-medium\">    <div class=\"acf-innerblocks-container\">\n\n<h2 class=\"wp-block-heading\"><strong>Sense is here for everyone with CHARGE syndrome<\/strong><\/h2>\n\n\n\n<p class=\"is-style-default\"><a href=\"https:\/\/www.sense.org.uk\/our-services\/support-in-your-area\/\">We offer support all over the UK<\/a>. Whether you need some expert advice, a place to socialise, or help with communicating or getting around, we offer something for everyone. Because no one should be left out of life.<\/p>\n\n\n\n<p class=\"is-style-default\">To find out what kind of support we could give you or your loved one, speak to one of our friendly team.<\/p>\n\n\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button is-style-secondary\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.sense.org.uk\/information-and-advice\/information-and-advice-service\/\">Contact us<\/a><\/div>\n<\/div>\n\n<\/div>\n  <\/div>\n\n\n\n\n<h2 class=\"wp-block-heading\" id=\"what\"><strong>What causes CHARGE syndrome?<\/strong><\/h2>\n\n\n\n<p>Changes (mutations) in a particular gene known as CHD7 cause CHARGE syndrome in the majority \u2013 more than two-thirds \u2013 of people with the condition.<\/p>\n\n\n\n<p>To date, more than 500 different changes to the CHD7 gene have been identified.<\/p>\n\n\n\n<p>Everyone with changes to the CHD7 has some symptoms of CHARGE syndrome. <\/p>\n\n\n\n<p>But, in some people with CHARGE syndrome, no changes in the CHD7 gene can be identified.&nbsp;<\/p>\n\n\n\n<p>It is possible that some of these people do have a change affecting the CHD7 gene, but it hasn\u2019t been found yet. Other people may have a change in a different gene, but so far no other changed genes causing CHARGE syndrome have been identified.<\/p>\n\n\n\n<p>Environmental factors may also be involved in causing CHARGE syndrome in some people.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"inherit\"><strong>Can you inherit CHARGE syndrome?<\/strong><\/h2>\n\n\n\n<p>In almost all cases, no, the condition is not inherited.<\/p>\n\n\n\n<p>The changed CHD7 gene that causes CHARGE syndrome is not passed from a parent to the child.&nbsp;<\/p>\n\n\n\n<p>The change in the child\u2019s CHD7 gene is known as a de novo (new) change, which means it\u2019s a new change and there is no history of CHARGE syndrome in the family.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"can-i\"><strong>Can I pass CHARGE syndrome to my children?<\/strong><\/h2>\n\n\n\n<p>If you are a parent of a child with CHARGE syndrome, and you also have the condition, there is a 50% risk of other children in your family inheriting the condition.&nbsp;<\/p>\n\n\n\n<p>If neither you nor your partner has CHARGE syndrome, and you have one child with the condition, there is a 1\u20132% risk of other children in the family also inheriting the condition.&nbsp;<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"diagnosed\"><strong>How is CHARGE syndrome diagnosed?<\/strong><\/h2>\n\n\n\n<p>At one time, someone would be diagnosed as having CHARGE syndrome if they had at least four out of the six features that make up the name CHARGE:<\/p>\n\n\n\n<ul class=\"is-style-primary-bullets wp-block-list\">\n<li><strong>C<\/strong>oloboma (an eye condition).&nbsp;<\/li>\n\n\n\n<li><strong>H<\/strong>eart defects.<\/li>\n\n\n\n<li><strong>A<\/strong>tresia choanae (choanal atresia; nasal passages blocked by bone or tissue). <\/li>\n\n\n\n<li><strong>R<\/strong>etardation (delay) of growth and\/or development.<\/li>\n\n\n\n<li><strong>G<\/strong>enital abnormalities.<\/li>\n\n\n\n<li><strong>E<\/strong>ar abnormalities.<\/li>\n<\/ul>\n\n\n\n<p>But this is no longer how the condition is diagnosed.&nbsp;<\/p>\n\n\n\n  <div class=\"wp-block  box    is-style-textured-primary-tint-10\">    <div class=\"acf-innerblocks-container\">\n\n<p>CHARGE syndrome now has four features known as the major diagnostic criteria, the four Cs:<\/p>\n\n\n\n<ul class=\"is-style-primary-bullets wp-block-list\">\n<li><a href=\"#RNIB\"><strong>C<\/strong>oloboma<\/a><\/li>\n\n\n\n<li><a href=\"#great\"><strong>C<\/strong>hoanal atresia (atresia choanae)<\/a><\/li>\n\n\n\n<li><strong>C<\/strong>haracteristic ear anomalies<\/li>\n\n\n\n<li><strong>C<\/strong>ranial nerve dysfunction (12 paired nerves in the back of the brain).<\/li>\n<\/ul>\n\n<\/div>\n  <\/div>\n\n\n\n\n<p>CHARGE syndrome also has minor diagnostic features, which include:<\/p>\n\n\n\n<ul class=\"is-style-primary-bullets wp-block-list\">\n<li><a href=\"#nhs\">Heart defects<\/a>.<\/li>\n\n\n\n<li>Retardation (delay) of growth.<\/li>\n\n\n\n<li>Genital abnormalities (small penis or small labia).<\/li>\n\n\n\n<li><a href=\"#nhs\">Cleft lip or palate<\/a>.<\/li>\n\n\n\n<li><a href=\"#nhs\">Trachea-oesophageal fistula<\/a> \u2013 a hole between the trachea (windpipe) and oesophagus (gullet).<\/li>\n\n\n\n<li><a href=\"https:\/\/www.sense.org.uk\/information-and-advice\/conditions\/charge-syndrome\/what-is-charge-syndrome\/#face\">Distinctive face<\/a>. <\/li>\n<\/ul>\n\n\n\n<p>Someone is diagnosed with CHARGE syndrome if they have:<\/p>\n\n\n\n<ul class=\"is-style-primary-bullets wp-block-list\">\n<li>All four Cs.<\/li>\n\n\n\n<li>Or three Cs and at least three minor features.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"genetic\"><strong>Genetic testing<\/strong><\/h2>\n\n\n\n<p>Genetic testing can confirm a diagnosis of CHARGE syndrome.&nbsp;This involves a DNA test \u2013&nbsp;the substance that contains our genes \u2013 for changes to the CDH7 gene.<\/p>\n\n\n\n<p>DNA testing usually involves giving a blood sample or sometimes a skin tissue sample.<\/p>\n\n\n\n<p>Parents of a child with CHARGE syndrome who are considering future pregnancies can both be tested for:&nbsp;<\/p>\n\n\n\n<ul class=\"is-style-primary-bullets wp-block-list\">\n<li>Mild symptoms of CHARGE syndrome.<\/li>\n\n\n\n<li>Any changes in their CHD7 gene.<\/li>\n<\/ul>\n\n\n\n<p>As well as diagnosis, genetic testing can be used to guide counselling, medical management and coordination of services for patients with CHARGE syndrome.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>Prenatal diagnosis<\/strong><\/h3>\n\n\n\n<p>During pregnancy, prenatal diagnosis using DNA testing for CHARGE syndrome can be carried out.<\/p>\n\n\n\n<p>But even if DNA testing confirms changes to a child\u2019s CHD7 gene, it cannot be used to predict how mild or severe the child\u2019s symptoms of CHARGE syndrome will be.&nbsp;<\/p>\n\n\n\n<p>It is always your personal choice whether or not to have prenatal diagnosis.&nbsp;<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>Genetic counselling<\/strong><\/h3>\n\n\n\n<p>To arrange a genetic test, ask your GP for a referral to a genetic clinic.<\/p>\n\n\n\n<p>When you ask for a genetic test, your GP might suggest you have genetic counselling. If they don\u2019t, ask them to refer you for genetic counselling.<\/p>\n\n\n\n<p>In genetic counselling, a specially trained professional will give you and your family information on your family member\u2019s specific genetic condition.<\/p>\n\n\n\n<p>This should help you to make the right decisions and understand the impact genetic testing might have on you and your family.<\/p>\n\n\n<script type=\"text\/javascript\">\n\/* <![CDATA[ *\/\nvar gform;gform||(document.addEventListener(\"gform_main_scripts_loaded\",function(){gform.scriptsLoaded=!0}),document.addEventListener(\"gform\/theme\/scripts_loaded\",function(){gform.themeScriptsLoaded=!0}),window.addEventListener(\"DOMContentLoaded\",function(){gform.domLoaded=!0}),gform={domLoaded:!1,scriptsLoaded:!1,themeScriptsLoaded:!1,isFormEditor:()=>\"function\"==typeof 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