Version June 2024
| Differential diagnosis | Gene | Features similar to Marfan syndrome | Discriminating features |
| Loeys-Dietz syndrome (LDS) | TGFBR1/2 | Aortic aneurysm/dissection | 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 | Pectus abnormalities, scoliosis, arachnodactyly | Craniosynostosis, mental retardation |
| MASS phenotype* | FBN1* and other | Mitral valve prolapse, mild aortic dilatation, striae atrophica, and at least one skeletal feature; systemic score ≥5 | Aortic root size Z<2; no ectopia lentis |
| Mitral valve prolapse syndrome | Several candidate gene loci | Mitral valve prolapse, pectus excavatum, scoliosis, mild arachnodactyly | Lack of aortic enlargement, lack of ectopia lentis, systemic score <5 |
| Congenital contractural arachnodactyly (CCA) | FBN2 | Marfanoid habitus, arachnodactyly, kyphosis/scoliosis, mild enlargement of the sinuses of Valsalva | Crumpled ears (folded upper helix), contractures of major joints (knees and ankles) at birth, flexion contractures of the proximal interphalangeal joints (camptodactyly), absence of aortic dissection or rupture |
| Weill-Marchesani syndrome (WMS) | FBN1 and ADAMTS10 | Ectopia lentis | Microspherophakia, brachydactyly, joint stiffness |
| Ectopia lentis syndrome (ELS) | FBN1, LTBP2, ADAMTSL4 | Ectopia lentis, may have mild skeletal findings | Lack of aortic root dilatation |
| Familial thoracic aortic aneurysm and dissection syndrome (FTAAD/FTAA) | TGFBR1/2, ACTA2 | Aortic dilatation and dissection | Livedo reticularis, iris flocculi, lack of Marfanoid skeletal features |
| FTAAD with bicuspid aortic valve | ACTA2 | Aortic aneurysm and dissection | Livedo reticularis, iris flocculi, cerebral aneurysm, premature ischemic strokes, Moyamoya disease, premature coronary artery disease, bicuspid aortic valve, patent ductus arteriosus |
| FTAAD with patent ductus arteriosus | MYH11 | Aortic root aneurysm | Patent ductus arteriosus |
| Homocystinuria | CBS | Marfanoid habitus, ectopia lentis | Thrombosis, mental retardation |
| Arterial tortuosity syndrome (ATS) | SLC2A10 | Aortic aneurysm | Generalized arterial tortuosity, arterial stenosis, facial dysmorphism |
| Ehlers-Danlos syndrome (vascular type) | COL3A1 | Aortic aneurysm/dissection occurs in some | Middle sized artery aneurysm, translucent skin, dystrophic scars, intestinal or uterine rupture |
| Ehlers-Danlos syndrome (cardiac valvular subtype) | COL1A2 | Mitral valve prolapse, joint hypermobility | Severe aortic and/or mitral valvular regurgitation, atrophic scars, skin hyperelasticity |
| Ehlers-Danlos syndrome (kyphoscoliotic type) | PLOD1 | Aortic dilatation/dissection, kyphoscoliosis, joint laxity | Middle sized artery aneurysm/rupture |
| Stickler syndrome (hereditary arthroophthalmopathy) | COL2A1, COL11A1 | Marfinoid habitus, mitral valve prolapse, retrognathia | Vitreal degeneration, retinal detachment, myopia, open angle glaucoma, early cataracts, cleft palate, hearing loss, epiphysial changes |
| Klinefelter's syndrome | 47,XXY (and other X>1 genotypes in men) | Marfanoid habitus | Small testes and genitalia, cognitive impairment |
| Congenital bicuspid aortic valve disease with associated aortopathy | NOTCH1, KCNJ2, and putative loci on chromosomes 18q, 5q and 13q | Ascending aortic aneurysm, some have pectus deformity, scoliosis | Bicuspid aortic valve (may occur together with or separately from aortic aneurysm in various family members); lack of ocular and other systemic findings of Marfan syndrome; aortic dilatation is commonly maximal or exclusively above the sinotubular junction |
| Aortic coarctation with associated ascending aortic enlargement | NOTCH1, ERBB4, largely unknown | Aortic dilatation | Coarctation of the aorta |
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