{"id":18330,"date":"2023-04-07T15:18:45","date_gmt":"2023-04-07T19:18:45","guid":{"rendered":"https:\/\/www.myface.org\/?page_id=18330"},"modified":"2024-05-07T14:19:42","modified_gmt":"2024-05-07T18:19:42","slug":"tcs","status":"publish","type":"page","link":"https:\/\/www.myface.org\/es\/craniofacial-conditions\/tcs\/","title":{"rendered":"Treacher Collins Syndrome (TCS)"},"content":{"rendered":"<div class=\"wpb-content-wrapper\"><div class=\"vc_row wpb_row vc_row-fluid\"><div class=\"container\"><div class=\"sd-centered-wrapper\"><div class=\"wpb_column vc_column_container vc_col-sm-12\"><div class=\"vc_column-inner\"><div class=\"wpb_wrapper\"><div class=\"ult-spacer spacer-69dff5ecbde79\" data-id=\"69dff5ecbde79\" data-height=\"80\" data-height-mobile=\"50\" data-height-tab=\"\" data-height-tab-portrait=\"\" data-height-mobile-landscape=\"\" style=\"clear:both;display:block;\"><\/div><div id=\"ultimate-heading-837169dff5ecbdeae\" class=\"uvc-heading ult-adjust-bottom-margin ultimate-heading-837169dff5ecbdeae uvc-7294\" data-hspacer=\"no_spacer\"  data-halign=\"center\" style=\"text-align:center\"><div class=\"uvc-heading-spacer no_spacer\" style=\"top\"><\/div><div class=\"uvc-main-heading ult-responsive\"  data-ultimate-target='.uvc-heading.ultimate-heading-837169dff5ecbdeae h1'  data-responsive-json-new='{\"font-size\":\"desktop:46px;tablet:46px;tablet_portrait:46px;mobile_landscape:35px;mobile:35px;\",\"line-height\":\"\"}' ><h1 style=\"font-weight:bold;color:rgba(255,255,255,0.68);\">Treacher Collins Syndrome (TCS)<\/h1><\/div><\/div><div class=\"ult-spacer spacer-69dff5ecbdec9\" data-id=\"69dff5ecbdec9\" data-height=\"80\" data-height-mobile=\"50\" data-height-tab=\"\" data-height-tab-portrait=\"\" data-height-mobile-landscape=\"\" style=\"clear:both;display:block;\"><\/div><\/div><\/div><\/div><\/div><\/div><\/div><!-- Row Backgrounds --><div class=\"upb_color\" data-bg-override=\"0\" data-bg-color=\"#2fbdd0\" data-fadeout=\"\" data-fadeout-percentage=\"30\" data-parallax-content=\"\" data-parallax-content-sense=\"30\" data-row-effect-mobile-disable=\"true\" data-img-parallax-mobile-disable=\"true\" data-rtl=\"false\"  data-custom-vc-row=\"\"  data-vc=\"8.0\"  data-is_old_vc=\"\"  data-theme-support=\"enable\"   data-overlay=\"false\" data-overlay-color=\"\" data-overlay-pattern=\"\" data-overlay-pattern-opacity=\"\" data-overlay-pattern-size=\"\"    ><\/div><div class=\"vc_row wpb_row vc_row-fluid\"><div class=\"wpb_column vc_column_container vc_col-sm-10 vc_col-lg-offset-1\"><div class=\"vc_column-inner\"><div class=\"wpb_wrapper\">\n\t<div class=\"wpb_text_column wpb_content_element\" >\n\t\t<div class=\"wpb_wrapper\">\n\t\t\t<p><strong><span style=\"text-decoration: underline;\"><a href=\"\/es\/craniofacial-conditions\/\">Condiciones craneofaciales<\/a><\/span><\/strong> &gt; <strong>Treacher Collins Syndrome (TCS)<\/strong><\/p>\n\n\t\t<\/div>\n\t<\/div>\n<div class=\"ult-spacer spacer-69dff5ecbe0d2\" data-id=\"69dff5ecbe0d2\" data-height=\"15\" data-height-mobile=\"0\" data-height-tab=\"15\" data-height-tab-portrait=\"15\" data-height-mobile-landscape=\"15\" style=\"clear:both;display:block;\"><\/div><\/div><\/div><\/div><\/div><div class=\"vc_row wpb_row vc_row-fluid\"><div class=\"wpb_column vc_column_container vc_col-sm-6 vc_col-lg-offset-3 vc_col-md-offset-3 vc_col-sm-offset-1\"><div class=\"vc_column-inner\"><div class=\"wpb_wrapper\"><div class=\"vc_row wpb_row vc_inner vc_row-fluid\"><div class=\"wpb_column vc_column_container vc_col-sm-12\"><div class=\"vc_column-inner\"><div class=\"wpb_wrapper\">\n\t<div class=\"wpb_text_column wpb_content_element\" >\n\t\t<div class=\"wpb_wrapper\">\n\t\t\t<h2>What is Treacher Collins Syndrome?<\/h2>\n<p><b>Other names for this condition include: <\/b><span style=\"font-weight: 400;\">TCS, <\/span><span style=\"font-weight: 400;\">TCOF, <\/span><span style=\"font-weight: 400;\">Treacher Collins-Franceschetti Syndrome, <\/span><span style=\"font-weight: 400;\">Mandibulofacial dysostosis, and <\/span><span style=\"font-weight: 400;\">MFD1<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Treacher Collins Syndrome (TCS) is a rare genetic disorder that affects the development of the bones and soft tissues in the face. Some of the common features of Treacher Collins Syndrome include underdeveloped cheekbones, a small mouth and jaw, ear abnormalities, downward-slanting eyes, and cleft palate. These features may vary in severity, and can affect both appearance and function \u2013 including breathing, feeding, and hearing.<\/span><\/p>\n\n\t\t<\/div>\n\t<\/div>\n<\/div><\/div><\/div><\/div><div class=\"vc_row wpb_row vc_inner vc_row-fluid\"><div class=\"wpb_column vc_column_container vc_col-sm-6 vc_col-has-fill\"><div class=\"vc_column-inner vc_custom_1714071216774\"><div class=\"wpb_wrapper\">\n\t<div class=\"wpb_text_column wpb_content_element vc_custom_1714074581487\" >\n\t\t<div class=\"wpb_wrapper\">\n\t\t\t<h3 style=\"text-align: center;\">Treacher Collins Syndrome<\/h3>\n\n\t\t<\/div>\n\t<\/div>\n\n\t<div class=\"wpb_text_column wpb_content_element vc_custom_1714074574020\" >\n\t\t<div class=\"wpb_wrapper\">\n\t\t\t<ul>\n<li><strong>Visi\u00f3n general:<\/strong> Treacher Collins Syndrome (TCS), also known as mandibulofacial dysostosis, is a rare genetic disorder characterized by distinctive abnormalities in craniofacial development.<\/li>\n<li><strong>Prevalencia:<\/strong> This condition, which affects approximately 1 in 50,000 live births, results from mutations in specific genes responsible for the development of facial bones and tissues.<\/li>\n<li><strong>Diagn\u00f3stico:<\/strong> Treacher Collins Syndrome is diagnosed through clinical evaluation of characteristic facial features, confirmed by genetic testing for mutations in the TCOF1, POLR1C, or POLR1D genes.<\/li>\n<li><strong>Common characteristics:<\/strong> Underdeveloped facial bones, Downward-slanting eyes, Small lower jaw, and Abnormalities of the ears, sometimes leading to hearing loss.<\/li>\n<\/ul>\n\n\t\t<\/div>\n\t<\/div>\n<div class=\"ult-spacer spacer-69dff5ecbe4fd\" data-id=\"69dff5ecbe4fd\" data-height=\"10\" data-height-mobile=\"10\" data-height-tab=\"10\" data-height-tab-portrait=\"\" data-height-mobile-landscape=\"\" style=\"clear:both;display:block;\"><\/div><\/div><\/div><\/div><div class=\"wpb_column vc_column_container vc_col-sm-6\"><div class=\"vc_column-inner\"><div class=\"wpb_wrapper\"><div class=\"vc_empty_space\"   style=\"height: 32px\"><span class=\"vc_empty_space_inner\"><\/span><\/div>\n\t<div  class=\"wpb_single_image wpb_content_element vc_align_center wpb_content_element\">\n\t\t\n\t\t<figure class=\"wpb_wrapper vc_figure\">\n\t\t\t<div class=\"vc_single_image-wrapper   vc_box_border_grey\"><img loading=\"lazy\" decoding=\"async\" width=\"300\" height=\"248\" src=\"https:\/\/www.myface.org\/wp-content\/uploads\/2024\/05\/Screenshot-2024-04-25-at-5.26.10\u202fPM-300x248.png\" class=\"vc_single_image-img attachment-medium\" alt=\"\" title=\"Screenshot 2024-04-25 at 5.26.10\u202fPM\" srcset=\"https:\/\/www.myface.org\/wp-content\/uploads\/2024\/05\/Screenshot-2024-04-25-at-5.26.10\u202fPM-300x248.png 300w, https:\/\/www.myface.org\/wp-content\/uploads\/2024\/05\/Screenshot-2024-04-25-at-5.26.10\u202fPM-15x12.png 15w, https:\/\/www.myface.org\/wp-content\/uploads\/2024\/05\/Screenshot-2024-04-25-at-5.26.10\u202fPM.png 440w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/div>\n\t\t<\/figure>\n\t<\/div>\n<\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><div class=\"vc_row wpb_row vc_row-fluid\"><div class=\"wpb_column vc_column_container vc_col-sm-6 vc_col-lg-offset-3 vc_col-md-offset-3\"><div class=\"vc_column-inner\"><div class=\"wpb_wrapper\"><div class=\"vc_row wpb_row vc_inner vc_row-fluid\"><div class=\"wpb_column vc_column_container vc_col-sm-12\"><div class=\"vc_column-inner\"><div class=\"wpb_wrapper\"><div class=\"vc_empty_space\"   style=\"height: 50px\"><span class=\"vc_empty_space_inner\"><\/span><\/div>\n\t<div class=\"wpb_text_column wpb_content_element\" >\n\t\t<div class=\"wpb_wrapper\">\n\t\t\t<h3><span style=\"font-weight: 400;\">Causes and Genetics of Treacher Collins Syndrome (TCS)<\/span><\/h3>\n<p><span style=\"font-weight: 400;\">Treacher Collins Syndrome (TCS) is a genetic disorder that results in distinctive craniofacial abnormalities, primarily due to mutations in specific genes. These genes, namely TCOF1, POLR1C, and POLR1D, are crucial for the early development of facial bones and tissues. Mutations in these genes disrupt the normal developmental process, leading to the characteristic features observed in TCS. The mode of inheritance and the occurrence of TCS can vary depending on which gene is mutated.<\/span><\/p>\n<h4><span style=\"font-weight: 800;\">Genetic Causes and Inheritance Patterns<\/span><\/h4>\n<p><span style=\"font-weight: 400;\">Mutations in TCOF1 or POLR1D genes lead to TCS through an autosomal dominant pattern of inheritance. This means an individual only needs to inherit one mutated gene from one parent to be affected. When TCS is caused by mutations in the POLR1C gene, it follows an autosomal recessive pattern. In this scenario, an individual must inherit mutated genes from both parents to be affected.<\/span><\/p>\n<h4><span style=\"font-weight: 800;\">De Novo Mutations<\/span><\/h4>\n<p><span style=\"font-weight: 400;\">Some individuals may develop TCS without a family history of the condition. This occurs due to de novo (new) mutations in the relevant genes, underscoring the spontaneous nature of its genetic origin in certain cases.<\/span><\/p>\n\n\t\t<\/div>\n\t<\/div>\n<\/div><\/div><\/div><\/div><div class=\"vc_row wpb_row vc_inner vc_row-fluid\"><div class=\"wpb_column vc_column_container vc_col-sm-12\"><div class=\"vc_column-inner\"><div class=\"wpb_wrapper\">\n\t<div class=\"wpb_text_column wpb_content_element\" >\n\t\t<div class=\"wpb_wrapper\">\n\t\t\t<h3><span style=\"font-weight: 400;\">Clinical Features of TCS<\/span><\/h3>\n<p><span style=\"font-weight: 400;\">Individuals with Treacher Collins Syndrome may exhibit a wide range of symptoms with varying degrees of severity, including:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Facial Structure Abnormalities:<\/b><span style=\"font-weight: 400;\"> Underdevelopment of the zygoma (cheekbones), mandible (lower jaw), and maxilla (upper jaw), leading to a characteristic facial appearance.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Eye Abnormalities: <\/b><span style=\"font-weight: 400;\">Downward slanting palpebral fissures (the open space between the eyelids), coloboma (a notch in the lower eyelid), and sparse eyelashes on the lower lid.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Ear Abnormalities:<\/b><span style=\"font-weight: 400;\"> Malformations of the external ear (ranging from slight anomalies to complete absence), hearing loss due to abnormalities in the middle ear structures, and, in some cases, the inner ear can be affected.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Airway Problems: <\/b><span style=\"font-weight: 400;\">Due to underdevelopment of facial bones, individuals may experience breathing difficulties and an increased risk of respiratory infections.<\/span><\/li>\n<\/ul>\n\n\t\t<\/div>\n\t<\/div>\n<\/div><\/div><\/div><\/div><div class=\"vc_row wpb_row vc_inner vc_row-fluid\"><div class=\"wpb_column vc_column_container vc_col-sm-12\"><div class=\"vc_column-inner\"><div class=\"wpb_wrapper\">\n\t<div class=\"wpb_text_column wpb_content_element\" >\n\t\t<div class=\"wpb_wrapper\">\n\t\t\t<h3><span style=\"font-weight: 400;\">Diagn\u00f3stico y Manejo<\/span><\/h3>\n<p><span style=\"font-weight: 400;\">Diagnosis of Treacher Collins Syndrome is primarily based on physical examination and the characteristic facial features. Genetic testing can confirm the diagnosis by identifying mutations in the TCOF1, POLR1C, or POLR1D genes. Early diagnosis is crucial for managing the condition effectively and can involve a multidisciplinary team including craniofacial surgeons, audiologists, dentists, speech therapists, and genetic counselors.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Management strategies focus on addressing the specific symptoms present in the individual. Surgical interventions may be required to correct jaw and cheekbone abnormalities, improve breathing, and reconstruct the ears. Hearing aids or bone-conduction devices may be necessary for those with hearing loss. Continuous monitoring and supportive therapies play a key role in ensuring individuals with TCS achieve their full potential.<\/span><\/p>\n\n\t\t<\/div>\n\t<\/div>\n<\/div><\/div><\/div><\/div>\n\t<div class=\"wpb_text_column wpb_content_element\" >\n\t\t<div class=\"wpb_wrapper\">\n\t\t\t<h3><span style=\"font-weight: 800;\">Meet Flossy: A teenager with Treacher Collins Syndrome (TCS)<\/span><\/h3>\n<h4><span style=\"font-weight: 900;\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-full wp-image-7512\" src=\"https:\/\/www.myface.org\/wp-content\/uploads\/2017\/12\/Flossy-Fogarty-blog.jpg\" alt=\"\" width=\"200\" height=\"200\" srcset=\"https:\/\/www.myface.org\/wp-content\/uploads\/2017\/12\/Flossy-Fogarty-blog.jpg 200w, https:\/\/www.myface.org\/wp-content\/uploads\/2017\/12\/Flossy-Fogarty-blog-150x150.jpg 150w, https:\/\/www.myface.org\/wp-content\/uploads\/2017\/12\/Flossy-Fogarty-blog-189x189.jpg 189w, https:\/\/www.myface.org\/wp-content\/uploads\/2017\/12\/Flossy-Fogarty-blog-85x85.jpg 85w\" sizes=\"auto, (max-width: 200px) 100vw, 200px\" \/><\/span><\/h4>\n<h4><span style=\"font-weight: 900;\">Flossy, 13<\/span><\/h4>\n<p><span style=\"font-weight: 400;\">Born with Treacher Collins Syndrome (TCS), Flossy has profound hearing loss and hears with the benefit of hearing aids. TCS has shaped Flossy, but does not define her. She is fun loving, determined and persistent, and doesn\u2019t let TCS slow her down.<\/span><\/p>\n<p><a href=\"https:\/\/www.myface.org\/es\/meetflossy\/\"><span style=\"font-weight: 400;\">Learn more about Flossy &gt;<\/span><\/a><\/p>\n\n\t\t<\/div>\n\t<\/div>\n<div class=\"vc_row wpb_row vc_inner vc_row-fluid\"><div class=\"wpb_column vc_column_container vc_col-sm-12\"><div class=\"vc_column-inner\"><div class=\"wpb_wrapper\">\n\t<div class=\"wpb_text_column wpb_content_element\" >\n\t\t<div class=\"wpb_wrapper\">\n\t\t\t<h3><span style=\"font-weight: 400;\">Treatment for TCS<\/span><\/h3>\n<p><span style=\"font-weight: 400;\">Treatment for Treacher Collins Syndrome may involve surgery to reconstruct facial bones, improve hearing or breathing, and correct cleft palate. People with Treacher Collins Syndrome may also need other supportive measures such as speech and language therapy and hearing aids. Genetic counseling may also be recommended for individuals and families affected by Treacher Collins Syndrome.<\/span><\/p>\n<h3><span style=\"font-weight: 400;\">Advances in Treatment and Support for Treacher Collins Syndrome<\/span><\/h3>\n<p><span style=\"font-weight: 400;\">Treacher Collins Syndrome is a complex condition that requires a comprehensive and compassionate approach to care. Advances in genetics and surgery have significantly improved the quality of life for individuals with TCS, allowing them to lead fulfilling lives despite the challenges they may face. Awareness and understanding of TCS are crucial for early diagnosis, effective management, and support for affected individuals and their families.<\/span><\/p>\n<h3><span style=\"font-weight: 400;\">FAQ on Treacher Collins Syndrome<\/span><\/h3>\n<h4><span style=\"font-weight: 800;\">What are the causes of Treacher Collins Syndrome?<\/span><\/h4>\n<p><span style=\"font-weight: 400;\">Treacher Collins Syndrome is caused by mutations in genes involved in facial development, primarily affecting the POLR1C, POLR1D, and TCOF1 genes.<\/span><\/p>\n<h4><span style=\"font-weight: 800;\">Is Treacher Collins Syndrome genetic?<\/span><\/h4>\n<p><span style=\"font-weight: 400;\">Yes, it is a genetic disorder, inherited in an autosomal dominant pattern, though many cases result from new mutations in the affected genes.<\/span><\/p>\n<h4><span style=\"font-weight: 800;\">How common is Treacher Collins Syndrome?<\/span><\/h4>\n<p><span style=\"font-weight: 400;\">It is relatively rare, occurring in about 1 in 50,000 live births.<\/span><\/p>\n<h4><span style=\"font-weight: 800;\">Does Treacher Collins Syndrome affect the brain?<\/span><\/h4>\n<p><span style=\"font-weight: 400;\">The syndrome does not affect the brain&#8217;s intellectual development, though it can impact structures of the head and face.<\/span><\/p>\n<h4><span style=\"font-weight: 800;\">Can Treacher Collins Syndrome be detected before birth?<\/span><\/h4>\n<p><span style=\"font-weight: 400;\">Yes, Treacher Collins Syndrome can often be detected before birth through advanced ultrasound and genetic testing.<\/span><\/p>\n\n\t\t<\/div>\n\t<\/div>\n<\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p><a class=\"sd-more sd-all-trans\" href=\"https:\/\/www.myface.org\/es\/craniofacial-conditions\/tcs\/#more-18330\">Leer m\u00e1s<\/a><\/p>","protected":false},"author":21,"featured_media":0,"parent":11228,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"full-width-page.php","meta":{"footnotes":""},"class_list":["post-18330","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.3 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Treacher Collins Syndrome (TCS) | myFace<\/title>\n<meta name=\"description\" content=\"Treacher Collins Syndrome (TCS) is a rare genetic disorder that affects the development of the bones and soft tissues in the face.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.myface.org\/es\/craniofacial-conditions\/tcs\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" 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