Features of differential diagnosis
| Differential diagnosis | Gene | Discriminating features |
| Loeys–Dietz syndrome (LDS) | TGFBR1/2 | Bifid uvula/cleft palate, arterial tortuosity, hypertelorism, diffuse aortic and arterial aneurysms, craniosynostosis, clubfoot, cervical spine instability, thin and velvety skin, easy bruising |
| Shprintzen–Goldberg syndrome (SGS) | FBN1 and other | Craniosynostosis, mental retardation |
| Congenital contractural arachnodactyly (CCA) | FBN2 | Crumpled ears, contractures |
| Weill–Marchesani syndrome (WMS) | FBN1 and ADAMTS10 | Microspherophakia, brachydactyly, joint stiffness |
| Ectopia lentis syndrome (ELS) | FBN1 LTBP2 ADAMTSL4 | Lack of aortic root dilatation |
| Homocystinuria | CBS | Thrombosis, mental retardation |
| Familial thoracic aortic aneurysm syndrome (FTAA) | TGFBR1/2, ACTA2 | Lack of Marfanoid skeletal features, levido reticularis, iris flocculi |
| FTAA with bicupid aortic valve (BAV) | ||
| FTAA with patent ductus arteriosus (PDA) | MYH11 | |
| Arterial tortuosity syndrome (ATS) | SLC2A10 | Generalised arterial tortuosity, arterial stenosis, facial dysmorphism |
| Ehlers–Danlos syndromes (vascular, valvular, kyphoscoliotic type) | COL3A1, COL1A2, PLOD1 | Middle sized artery aneurysm, severe valvular insufficiency, translucent skin, dystrophic scars, facial characteristics |