{"id":20863,"date":"2024-11-12T13:45:05","date_gmt":"2024-11-12T18:45:05","guid":{"rendered":"https:\/\/www.myface.org\/?page_id=20863"},"modified":"2024-11-12T13:46:12","modified_gmt":"2024-11-12T18:46:12","slug":"pfeiffer-syndrome","status":"publish","type":"page","link":"https:\/\/www.myface.org\/es\/craniofacial-conditions\/pfeiffer-syndrome\/","title":{"rendered":"Pfeiffer Syndrome"},"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-69d91682ec0d3\" data-id=\"69d91682ec0d3\" 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-770369d91682ec109\" class=\"uvc-heading ult-adjust-bottom-margin ultimate-heading-770369d91682ec109 uvc-956 \" 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-770369d91682ec109 h2'  data-responsive-json-new='{\"font-size\":\"desktop:46px;tablet:46px;tablet_portrait:46px;mobile_landscape:35px;mobile:35px;\",\"line-height\":\"\"}' ><h2 style=\"font-weight:bold;color:rgba(255,255,255,0.68);\">Pfeiffer Syndrome<\/h2><\/div><\/div><div class=\"ult-spacer spacer-69d91682ec124\" data-id=\"69d91682ec124\" 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><a href=\"\/craniofacial-conditions\/\">Craniofacial Conditions<\/a> &gt; Pfeiffer Syndrome<br \/>\n<\/strong><\/p>\n\n\t\t<\/div>\n\t<\/div>\n<div class=\"ult-spacer spacer-69d91682ec335\" data-id=\"69d91682ec335\" 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-12 vc_col-lg-offset-3 vc_col-lg-6 vc_col-md-offset-3 vc_col-md-6 vc_col-xs-offset-1 vc_col-xs-10\"><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<div class=\"trp_language_switcher_shortcode\">\n<div class=\"trp-language-switcher trp-language-switcher-container\" data-no-translation >\n    <div class=\"trp-ls-shortcode-current-language\">\n        <a href=\"#\" class=\"trp-ls-shortcode-disabled-language trp-ls-disabled-language\" title=\"Espa\u00f1ol\" onclick=\"event.preventDefault()\">\n\t\t\t<img loading=\"lazy\" decoding=\"async\" class=\"trp-flag-image\" src=\"https:\/\/www.myface.org\/wp-content\/plugins\/translatepress-multilingual\/assets\/images\/flags\/es_ES.png\" width=\"18\" height=\"12\" alt=\"es_ES\" title=\"Espa\u00f1ol\"> Espa\u00f1ol\t\t<\/a>\n    <\/div>\n    <div class=\"trp-ls-shortcode-language\">\n                <a href=\"#\" class=\"trp-ls-shortcode-disabled-language trp-ls-disabled-language\"  title=\"Espa\u00f1ol\" onclick=\"event.preventDefault()\">\n\t\t\t<img loading=\"lazy\" decoding=\"async\" class=\"trp-flag-image\" src=\"https:\/\/www.myface.org\/wp-content\/plugins\/translatepress-multilingual\/assets\/images\/flags\/es_ES.png\" width=\"18\" height=\"12\" alt=\"es_ES\" title=\"Espa\u00f1ol\"> Espa\u00f1ol\t\t<\/a>\n                    <a href=\"https:\/\/www.myface.org\/es\/wp-json\/wp\/v2\/pages\/20863#TRPLINKPROCESSED\" title=\"English\">\n            <img loading=\"lazy\" decoding=\"async\" class=\"trp-flag-image\" src=\"https:\/\/www.myface.org\/wp-content\/plugins\/translatepress-multilingual\/assets\/images\/flags\/en_US.png\" width=\"18\" height=\"12\" alt=\"en_US\" title=\"English\"> English        <\/a>\n\n        <\/div>\n    <script type=\"application\/javascript\">\n        \/\/ need to have the same with set from JS on both divs. Otherwise it can push stuff around in HTML\n        var trp_ls_shortcodes = document.querySelectorAll('.trp_language_switcher_shortcode .trp-language-switcher');\n        if ( trp_ls_shortcodes.length > 0) {\n            \/\/ get the last language switcher added\n            var trp_el = trp_ls_shortcodes[trp_ls_shortcodes.length - 1];\n\n            var trp_shortcode_language_item = trp_el.querySelector( '.trp-ls-shortcode-language' )\n            \/\/ set width\n            var trp_ls_shortcode_width                                               = trp_shortcode_language_item.offsetWidth + 16;\n            trp_shortcode_language_item.style.width                                  = trp_ls_shortcode_width + 'px';\n            trp_el.querySelector( '.trp-ls-shortcode-current-language' ).style.width = trp_ls_shortcode_width + 'px';\n\n            \/\/ We're putting this on display: none after we have its width.\n            trp_shortcode_language_item.style.display = 'none';\n        }\n    <\/script>\n<\/div>\n<\/div>\n<h2>What is Pfeiffer Syndrome?<\/h2>\n<p><span style=\"font-weight: 400;\">Pfeiffer Syndrome is a rare genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis), leading to distinctive facial features and potentially affecting other areas of the body, including the hands and feet. The condition is typically grouped into three subtypes, each with varying degrees of severity.<\/span><\/p>\n\n\t\t<\/div>\n\t<\/div>\n<\/div><\/div><\/div><\/div><div class=\"vc_row wpb_row vc_row-fluid\"><div class=\"wpb_column vc_column_container vc_col-sm-12 vc_col-lg-offset-3 vc_col-lg-6 vc_col-md-offset-3 vc_col-md-6 vc_col-xs-offset-1 vc_col-xs-10 vc_col-has-fill\"><div class=\"vc_column-inner vc_custom_1708640251224\"><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-6\"><div class=\"vc_column-inner\"><div class=\"wpb_wrapper\"><div class=\"ult-spacer spacer-69d91682ec8cd\" data-id=\"69d91682ec8cd\" data-height=\"40\" data-height-mobile=\"0\" data-height-tab=\"40\" data-height-tab-portrait=\"40\" data-height-mobile-landscape=\"40\" style=\"clear:both;display:block;\"><\/div>\n\t<div class=\"wpb_text_column wpb_content_element\" >\n\t\t<div class=\"wpb_wrapper\">\n\t\t\t<h3>Pfeiffer Syndrome<\/h3>\n<p><strong>Overview:<\/strong> Pfeiffer Syndrome is a rare genetic disorder that primarily affects skull, hand, and foot development due to early skull bone fusion (craniosynostosis), which can impact brain development and facial structure.<\/p>\n<p><strong>Prevalence:<\/strong> Pfeiffer Syndrome occurs in approximately 1 in 100,000 births.<\/p>\n<p><strong>Causes:<\/strong> Caused by mutations in the FGFR1 or FGFR2 genes, often inherited in an autosomal dominant pattern or as new mutations.<\/p>\n<p><strong>Diagnosis:<\/strong> Diagnosis typically involves clinical evaluation, imaging studies, and genetic testing to confirm FGFR1 or FGFR2 mutations.<\/p>\n<p><strong>Common Characteristics:<\/strong> Craniosynostosis, broad and short thumbs and toes, partial soft tissue syndactyly, and distinctive facial features such as wide-set eyes and shallow eye sockets.<\/p>\n\n\t\t<\/div>\n\t<\/div>\n<\/div><\/div><\/div><div class=\"wpb_column vc_column_container vc_col-sm-6 vc_col-has-fill\"><div class=\"vc_column-inner vc_custom_1708640151407\"><div class=\"wpb_wrapper\"><\/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-12 vc_col-lg-offset-3 vc_col-lg-6 vc_col-md-offset-3 vc_col-md-6 vc_col-xs-offset-1 vc_col-xs-10\"><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><\/div><\/div><\/div><\/div><div class=\"vc_row wpb_row vc_row-fluid\"><div class=\"wpb_column vc_column_container vc_col-sm-12 vc_col-lg-offset-3 vc_col-lg-6 vc_col-md-offset-3 vc_col-md-6 vc_col-xs-offset-1 vc_col-xs-10\"><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<h3><span style=\"font-weight: 800;\">Key Characteristics<\/span><\/h3>\n<p><b>Craniosynostosis<\/b><span style=\"font-weight: 400;\"> \u2013 Craniosynostosis refers to the premature fusion of one or more sutures in the skull, which restricts normal skull growth and leads to an abnormal head shape. This early fusion can prevent the skull from expanding in response to brain growth, potentially causing increased intracranial pressure.\u00a0<\/span><\/p>\n<p><b>Broad, Short Thumbs and Toes<\/b><span style=\"font-weight: 400;\"> \u2013 Common physical characteristics observed in most individuals with Pfeiffer Syndrome.<\/span><\/p>\n<p><b>Partial Soft Tissue Syndactyly<\/b><span style=\"font-weight: 400;\"> \u2013 Fusion of soft tissues between fingers or toes, though the extent can vary.<\/span><\/p>\n<p><b>Distinct Facial Features <\/b><span style=\"font-weight: 400;\">\u2013 Individuals may exhibit shallow eye sockets, wide-set eyes, and other distinctive facial characteristics.<\/span><\/p>\n<p>&nbsp;<\/p>\n<h3><span style=\"font-weight: 800;\">Types of Pfeiffer Syndrome<\/span><\/h3>\n<h4><span style=\"font-weight: 900;\">Type 1 (Classic)<\/span><\/h4>\n<p><span style=\"font-weight: 400;\">Mildest form, associated with craniosynostosis and hand\/foot abnormalities but normal or near-normal cognitive development.<\/span><\/p>\n<h4><span style=\"font-weight: 900;\">Type 2<\/span><\/h4>\n<p><span style=\"font-weight: 400;\">More severe, with characteristic &#8220;cloverleaf skull&#8221; shape due to multiple skull sutures fusing prematurely. Often involves more significant complications and developmental challenges.<\/span><\/p>\n<h4><span style=\"font-weight: 900;\">Type 3<\/span><\/h4>\n<p><span style=\"font-weight: 400;\">Similar to Type 2 but without a cloverleaf skull. Severe symptoms, including major developmental delays and potentially life-threatening complications.<\/span><\/p>\n<p>&nbsp;<\/p>\n<h3><span style=\"font-weight: 800;\">Explore Our Comprehensive Parent Guides<\/span><\/h3>\n<p><span style=\"font-weight: 400;\">Supporting a child with a craniofacial condition can be challenging, but you don\u2019t have to navigate it alone. Our expert-created Parent Guides offer valuable insights, practical tips, and resources to help you provide the best care for your child.<\/span><\/p>\n<p><a href=\"https:\/\/www.myface.org\/parent-guides\/\"><b>Download your guide today<\/b><\/a><\/p>\n<p>&nbsp;<\/p>\n<h3><span style=\"font-weight: 800;\">Causes and Genetics<\/span><\/h3>\n<p><span style=\"font-weight: 400;\">Pfeiffer Syndrome is primarily caused by mutations in the FGFR1 or FGFR2 genes. These genes provide instructions for making proteins involved in cell growth and development, particularly in bone development. Most cases are inherited in an autosomal dominant pattern, although many occur as new mutations.<\/span><\/p>\n<h3><span style=\"font-weight: 800;\">Diagnosis<\/span><\/h3>\n<p><span style=\"font-weight: 400;\">Diagnosing Pfeiffer Syndrome involves a comprehensive approach that integrates multiple methods to ensure accurate identification and understanding of the condition&#8217;s scope. Given the syndrome\u2019s distinctive physical and genetic markers, the diagnostic process often combines clinical evaluation, advanced imaging, and genetic analysis. This multi-faceted approach helps specialists not only confirm the presence of Pfeiffer Syndrome but also determine the extent of its impact on the individual\u2019s craniofacial structure, skeletal system, and overall development. Early and thorough diagnosis is essential for planning effective interventions, managing potential complications, and supporting long-term development.<\/span><\/p>\n<h4><span style=\"font-weight: 900;\">Diagnosis usually involves:<\/span><\/h4>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Physical Examination \u2013 Noting characteristic facial, hand, and foot features.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Imaging Studies \u2013 X-rays or CT scans to assess skull and bone abnormalities.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Genetic Testing \u2013 Identifying mutations in the FGFR1 or FGFR2 genes to confirm diagnosis.<\/span><\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3><span style=\"font-weight: 800;\">Treatment Options<\/span><\/h3>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Surgical Intervention: Early surgery may be recommended to correct craniosynostosis and other structural anomalies.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Monitoring and Supportive Care: Regular follow-ups with specialists in craniofacial surgery, orthopedics, and developmental pediatrics are often essential.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Therapies and Support Services: Occupational and physical therapy, as well as access to support groups and educational resources, can provide additional assistance.<\/span><\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3><span style=\"font-weight: 800;\">Support Resources<\/span><\/h3>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.myface.org\/online-groups\/\"><span style=\"font-weight: 400;\">Support Groups<\/span><\/a><span style=\"font-weight: 400;\">: Connecting with others facing similar challenges can offer valuable support and shared knowledge.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Medical Professionals: Maintaining regular check-ups with a care team knowledgeable about craniofacial conditions is crucial.<\/span><\/li>\n<\/ul>\n\n\t\t<\/div>\n\t<\/div>\n<div class=\"vc_empty_space\"   style=\"height: 32px\"><span class=\"vc_empty_space_inner\"><\/span><\/div><\/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\"><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>Patient Spotlight<\/h2>\n<h3><span style=\"font-weight: 800;\">I am Ellie<\/span><\/h3>\n<p><span style=\"font-weight: 400;\">Ellie&#8217;s openness and humor offer a positive perspective, and she appreciates when people acknowledge her differences. Her story highlights resilience and self-acceptance.\u00a0<\/span><\/p>\n<p><a href=\"https:\/\/www.myface.org\/inspiring-story-of-a-girl-born-with-pfeiffer-syndrome\/\"><span style=\"font-weight: 400;\">You can read more about her inspiring journey<\/span><\/a><\/p>\n\n\t\t<\/div>\n\t<\/div>\n<\/div><\/div><\/div><div class=\"wpb_column vc_column_container vc_col-sm-6\"><div class=\"vc_column-inner\"><div class=\"wpb_wrapper\">\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=\"767\" height=\"625\" src=\"https:\/\/www.myface.org\/wp-content\/uploads\/2024\/11\/IMG_4935.jpg\" class=\"vc_single_image-img attachment-large\" alt=\"\" title=\"IMG_4935\" srcset=\"https:\/\/www.myface.org\/wp-content\/uploads\/2024\/11\/IMG_4935.jpg 767w, https:\/\/www.myface.org\/wp-content\/uploads\/2024\/11\/IMG_4935-300x244.jpg 300w, https:\/\/www.myface.org\/wp-content\/uploads\/2024\/11\/IMG_4935-15x12.jpg 15w\" sizes=\"auto, (max-width: 767px) 100vw, 767px\" \/><\/div>\n\t\t<\/figure>\n\t<\/div>\n<\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><!-- Row Backgrounds --><div class=\"upb_color\" data-bg-override=\"0\" data-bg-color=\"\" 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-12 vc_col-lg-offset-2 vc_col-lg-8 vc_col-md-offset-1 vc_col-md-10 vc_col-xs-12\"><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><\/div><\/div><\/div><\/div><!-- Row Backgrounds --><div class=\"upb_color\" data-bg-override=\"0\" data-bg-color=\"#2fbed0\" 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>\n<\/div>","protected":false},"excerpt":{"rendered":"<p><a class=\"sd-more sd-all-trans\" href=\"https:\/\/www.myface.org\/es\/craniofacial-conditions\/pfeiffer-syndrome\/#more-20863\">Leer m\u00e1s<\/a><\/p>","protected":false},"author":14,"featured_media":0,"parent":11228,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"full-width-page.php","meta":{"footnotes":""},"class_list":["post-20863","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.2 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>What is Pfeiffer Syndrome? | myFace<\/title>\n<meta name=\"description\" content=\"Learn about Pfeiffer Syndrome, a rare genetic disorder affecting skull and limb development. 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