Table 1 shows the different disorders that may overlap with Marfan Syndrome because of their clinical features. It is therefore important that all these clinical manifestations are ruled out before diagnosing an individual of a potential disorder. A disorder that overlaps mostly with the many features of the Marfan syndrome is Loeys-Dietz syndrome (LDS) as a result of mutations in TGFBR2, TGFBR1, SMAD3 and TGFB2.4 Patients with LDS present with malar hypoplasia, arched palate, scoliosis, dural ectasia, aortia aneurysms and dissections.2 Although they have long finger, bone overgrowth is often absent and does not show ectopia lentis.2 Distinctive features include high frequency hypertelorism learning disability, congenital heart disease and …show more content…
In Beals syndrome, most people with Beals syndrome are unable to fully extend their joint as they are bent and deformed which can lead to restricted movement and the eyes are not affected like in MFS.2 Shprintzen-Goldberg syndrome can be differentiated from Marfan syndrome by the presence of exophthalmos, craniosynostosis, and mental retardation.6 MASS phenotype never demonstrate progressive aortic dilatation or lens dislocation.6
Familial thoracic aortic aneurysm syndrome usually shows vascular diseases that can also be associated with MFS, including aortic aneurysms and dissections.1 Individuals does not show general features of connective tissue disorders and no specific genes have been labelled and therefore all the family members can be at risk.1 Management principles of MFS have proven as an effective diagnosis for individuals with familial aortic aneurysm.1
Homocystinuria due to cystathionine is another differential diagnosis, where patients are presented with tall physique, long-overgrown bones and ectopia lentis.1 However, they do not have aortic aneurysms or dissections.1 They are inherited as autosomal recessive, where MFS is dominant, and individuals have mental retardation due to thromboembolism and incidence of coronary artery atherosclerosis.1 Raised concentration of plasma homocystine in the blood test can help distinguish between MFS and …show more content…
This is due to spontaneous mutation in the gene during reproduction.1 Genomic DNA from peripheral leukocytes can be screened using conformation-sensitive gel electrophoresis (CSGE) and single-strand conformation polymorphism (SSCP).8 Mutation screening of the FBN1 genomic sequences was performed by augmentation of 65 fragments.8 These methods has proven success for better diagnosis for patients suffering from Marfan syndrome. Although there is some diagnostic measure that can be done, an overall understanding is still lacking for better