{"id":5060,"date":"2013-01-02T12:52:50","date_gmt":"2013-01-02T12:52:50","guid":{"rendered":"https:\/\/medicalcriteria.com\/web\/diagnostic-criteria-for-marfan-syndrome-mfs\/"},"modified":"2025-05-13T20:28:00","modified_gmt":"2025-05-13T20:28:00","slug":"diagnostic-criteria-for-marfan-syndrome-mfs","status":"publish","type":"post","link":"https:\/\/medicalcriteria.com\/web\/diagnostic-criteria-for-marfan-syndrome-mfs\/","title":{"rendered":"Diagnostic Criteria for Marfan Syndrome (MFS)"},"content":{"rendered":"<div class=\"99c380e4b4a7b96c35d7ddf7dcb434e8\" data-index=\"1\" style=\"float: none; margin:0px 0 0px 0; text-align:center;\">\n<script async src=\"https:\/\/pagead2.googlesyndication.com\/pagead\/js\/adsbygoogle.js\"><\/script>\r\n<!-- MC 2019- Horizontal -->\r\n<ins class=\"adsbygoogle\"\r\n     style=\"display:block\"\r\n     data-ad-client=\"ca-pub-0127150553352455\"\r\n     data-ad-slot=\"3806776041\"\r\n     data-ad-format=\"auto\"\r\n     data-full-width-responsive=\"true\"><\/ins>\r\n<script>\r\n     (adsbygoogle = window.adsbygoogle || []).push({});\r\n<\/script>\n<\/div>\n<p>Marfan syndrome is currently diagnosed using criteria based on an evaluation of the family history, molecular data, and 6 organ systems.<br \/>\n<!--more--><br \/>\n<strong>Diagnostic Criteria for Marfan Syndrome (MFS)<\/strong><br \/>\nThe Ghent criteria consist of major and minor criteria. The major criteria are features or symptoms that are common in people with Marfan syndrome and rare in people who do not have the syndrome.<br \/>\nMinor criteria are features or symptoms that are present in people with Marfan syndrome, but are also present in people who do not have it.<br \/>\nTo be diagnosed with Marfan syndrome using the Ghent criteria, you must have a number of different criteria as described below.<br \/>\nIf you have a family history of Marfan syndrome, you will need to have one of the major criteria and one of the minor criteria that affect different systems in your body, such as your skeleton and your blood vessels.<br \/>\nIf you do not have a family history of Marfan syndrome, you will need to have two major criteria and one of the minor criteria that affect different systems in your body.<\/p>\n<p><strong>Index case:<\/strong><\/p>\n<ul>\n<li><span style=\"line-height: 1.3em;\">Major criteria in 2 different organ systems <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">AND involvement of a third organ system.<\/span><\/li>\n<\/ul>\n<p><strong>Relative of index case:<\/strong><\/p>\n<ul>\n<li><span style=\"line-height: 1.3em;\">1 major criterion in family history <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">AND 1 major criterion in an organ system <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">AND involvement in second organ system. <\/span><\/li>\n<\/ul>\n<p><strong>SKELETAL<\/strong><br \/>\nMajor (Presence of at least 4 of the following manifestations)<\/p>\n<ul>\n<li><span style=\"line-height: 1.3em;\">pectus carinatum <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">pectus excavatum requiring surgery <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">reduced upper to lower segment ratio<\/span><span style=\"line-height: 1.3em;\"> OR arm span to height ratio &gt;1.05 <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">wrist (Note 2) and thumb (Note 3) signs <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">scoliosis of &gt;20\u00b0 or spondylolisthesis <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">reduced extension at the elbows (&lt;170\u00b0) <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">medial displacement of the medial malleolus causing pes planus <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">protrusio acetabulae of any degree (ascertained on radiographs)<\/span><\/li>\n<\/ul>\n<p>Minor<\/p>\n<ul>\n<li><span style=\"line-height: 1.3em;\">pectus excavatum of moderate severity <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">joint hypermobility <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">high arched palate with crowding of teeth <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">facial appearance <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">dolichocephaly, <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">malar hypoplasia, <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">enophthalmos, <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">retrognathia, <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">down-slanting palpebral fissures <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">INVOLVEMENT: 2 major criteria or 1 major and 2 minor <\/span><\/li>\n<\/ul>\n<p><span style=\"line-height: 1.3em;\"><strong>OCULAR<\/strong><\/span><br \/>\nMajor<\/p>\n<ul>\n<li><span style=\"line-height: 1.3em;\">ectopia lentis<\/span><\/li>\n<\/ul>\n<p>Minor<\/p>\n<ul>\n<li><span style=\"line-height: 1.3em;\">flat cornea <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">increased axial length of the globe<\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">hypoplastic iris OR hypoplastic ciliary muscle, causing decreased miosis <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">INVOLVEMENT: 2 minor criteria <\/span><\/li>\n<\/ul>\n<p><strong>CARDIOVASCULAR<\/strong><br \/>\nMajor<\/p>\n<ul>\n<li><span style=\"line-height: 1.3em;\">dilatation of the ascending aorta with or without aortic regurgitation <\/span><span style=\"line-height: 1.3em;\">and involving at least the sinuses of Valsalva <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">dissection of the ascending aorta<\/span><\/li>\n<\/ul>\n<p>Minor<\/p>\n<ul>\n<li><span style=\"line-height: 1.3em;\">mitral valve prolapse with or without mitral valve regurgitation <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">dilatation of the main pulmonary artery, in the absence of valvular or <\/span><span style=\"line-height: 1.3em;\">peripheral pulmonic stenosis below the age of 40 years <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">calcification of the mitral annulus below the age of 40 years <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">dilatation or dissection of the descending thoracic or abdominal aorta <\/span><span style=\"line-height: 1.3em;\">below age of 50 years <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">INVOLVEMENT: 1 minor criterion <\/span><\/li>\n<\/ul>\n<p><strong>PULMONARY<\/strong><br \/>\nMinor (only)<\/p>\n<ul>\n<li><span style=\"line-height: 1.3em;\">spontaneous pneumothorax <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">apical blebs <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">INVOLVEMENT: 1 minor criterion <\/span><\/li>\n<\/ul>\n<p><strong>SKIN AND INTEGUMENT<\/strong><br \/>\nMinor (only)<\/p>\n<ul>\n<li><span style=\"line-height: 1.3em;\">striae atrophicae <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">recurrent or incisional hernia <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">INVOLVEMENT: 1 minor criterion <\/span><\/li>\n<\/ul>\n<p><strong>DURA<\/strong><br \/>\nMajor<\/p>\n<ul>\n<li><span style=\"line-height: 1.3em;\">lumbosacral dural ectasia by CT or MRI <\/span><\/li>\n<\/ul>\n<p><strong>FAMILY\/GENETIC HISTORY<\/strong><br \/>\nMajor<\/p>\n<ul>\n<li><span style=\"line-height: 1.3em;\">first degree relative who independently meets the diagnostic criterion. <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">presence of mutation in FBN1 known to cause Marfan syndrome <\/span><\/li>\n<li><span style=\"line-height: 1.3em;\">presence of haplotype around FBN1 inherited by descent and unequivocally <\/span><span style=\"line-height: 1.3em;\">associated with diagnosed Marfan syndrome in the family <\/span><\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<p><strong>References:<\/strong><\/p>\n<ol>\n<li>Radonic T, de Witte P, Groenink M, de Bruin-Bon RA, Timmermans J, Scholte AJ, van den Berg MP, Baars MJ, van Tintelen JP, Kempers M, Zwinderman AH, Mulder BJ. Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome. Clin Genet. 2011 Oct;80(4):346-53. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/21332468\/\" target=\"_blank\" rel=\"noopener noreferrer\">[Medline]<\/a><\/li>\n<li>Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010 Jul;47(7):476-85. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/20591885\/\" target=\"_blank\" rel=\"noopener noreferrer\">[Medline]<\/a><\/li>\n<li>De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996 Apr 24;62(4):417-26. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/8723076\/\" target=\"_blank\" rel=\"noopener noreferrer\">[Medline]<\/a><\/li>\n<\/ol>\n<p>&nbsp;<\/p>\n<p>Created Jun 07, 2013.<\/p>\n\n<div style=\"font-size: 0px; height: 0px; line-height: 0px; margin: 0; padding: 0; clear: both;\"><\/div>","protected":false},"excerpt":{"rendered":"<p>Sorry, this entry is only available in Espa\u00f1ol.<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_lmt_disableupdate":"no","_lmt_disable":"no","_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"footnotes":""},"categories":[26],"tags":[16,15,14,13,1056,1057,5,4],"class_list":["post-5060","post","type-post","status-publish","format-standard","hentry","category-cardiology","tag-criteria","tag-criterios","tag-diagnostic","tag-diagnostico","tag-marfan","tag-mfs","tag-sindrome","tag-syndrome"],"modified_by":"Guillermo Firman","_links":{"self":[{"href":"https:\/\/medicalcriteria.com\/web\/wp-json\/wp\/v2\/posts\/5060","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/medicalcriteria.com\/web\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/medicalcriteria.com\/web\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/medicalcriteria.com\/web\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/medicalcriteria.com\/web\/wp-json\/wp\/v2\/comments?post=5060"}],"version-history":[{"count":3,"href":"https:\/\/medicalcriteria.com\/web\/wp-json\/wp\/v2\/posts\/5060\/revisions"}],"predecessor-version":[{"id":9311,"href":"https:\/\/medicalcriteria.com\/web\/wp-json\/wp\/v2\/posts\/5060\/revisions\/9311"}],"wp:attachment":[{"href":"https:\/\/medicalcriteria.com\/web\/wp-json\/wp\/v2\/media?parent=5060"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/medicalcriteria.com\/web\/wp-json\/wp\/v2\/categories?post=5060"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/medicalcriteria.com\/web\/wp-json\/wp\/v2\/tags?post=5060"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}