| Condition | Symptom Overlap with Marfan Syndrome | Discriminating Features | Gene |
|---|---|---|---|
| Loeys-Dietz Syndrome | Aortic root enlargement and dissection Variable skeletal findings Dural Ectasia Stretch Marks | Craniosynostosis Diffuse aortic and arterial aneurysms and dissections Arterial tortuosity Gastrointestinal problems Cleft palate/bifid uvula Gastrointestinal problems Club foot Cervical spine instability Lens dislocation not found Hypertelorism Thin and velvety skin Easy bruising Thin and velvety skin Translucent skin Dystrophic scars | TGFBR1 TGFBR2 SMAD3 TGFB2 TGFB3 |
| Familial Thoracic Aortic Aneurysm and Dissection (FTAAD) | Aortic enlargement and dissection. | Lack of marfanoid skeletal features Iris flocculi Levido reticularis (common in other connective tissue disorders including Marfan) Dislocated lenses not found Dural ectasia not found | ACTA2 MYLK PRKG1 MYH11 MFAP5 MAT2A |
| FTAAD with biscuspid aortic valve (BAV) | Aortic enlargement (root and ascending) and dissection | Male predominance Aortic stenosis can occur | Unknown |
| FTAAD with patent ductus arteriosus (PDA) | Aortic enlargement and dissection | Frequent PDA | MYH11 |
| Arterial tortuosity syndrome (ATS) | Aortic enlargement and dissection | Generalized arterial tortuosity Arterial stenosis Facial dysmorphism | SLC2A10 |
| Ectopia Lentis Syndrome (Dislocated Lens) | Eye lens dislocation Common skeletal findings | Aortic root dilation/aneurysms not found | FBN-1 LTBP2 ADAMTSL-4 |
| Shprintzen-Goldberg Syndrome | Mitral valve prolapse Skeletal findings Myopia | Craniosynostosis Hypertelorism Delayed motor and cognitive milestones Mental retardation Aortic root dilatation is uncommon C1-C2 abnormality | SKI (rarely FBN-1) |
| Ehlers-Danlos Syndrome | Skeletal Findings Valve prolapse and Aortic enlargement and dissection in selected types only | Vascular type: Arterial, intestinal, uterine fragility and rupture Characteristic facial appearance (thin lips and philtrum, small chin, thin nose, and large eyes) Thin translucent skin with easy bruising Dystropic scars Facial characteristics Hypermobility type: Joint Subluxation common Skin soft or velvety, may be mildly hyperextensible Kyphoscoliotic Type: Progressive scoliosis present at birth or within first year of life Scleral fragility and rupture of the globe Severe muscle hyptonia at birth Friable, hyperextensible skin Generalized joint laxity Classic Type: Skin fragility and hyperextensibility Widened atrophic scars Joint hypermobility Aortic root dilation can occur | COL3A1 (vascular) TNXB (hypermobility) PLOD1 (kyphoscoliotic) COL5A1/COL5A2 (classic) |
| Homocystinuria | Mitral Valve Prolapse Eye lens dislocation and myopia Skeletal findings | Arterial and venous thrombosis Mental retardation Seizures common | CBS |
| Beals Syndrome (Congenital Contractural Arachnodactyly) | Mitral valve prolapse and aortic enlargement can occur Variable skeletal findings | Crumpled appearance to the top of the earInability to fully extend multiple joints such as fingers, elbows, knees, toes and hip contractures Delay in motor development often occurs (due to congenital contractures) Eyes are not affected Dissections very rare | FBN-2 |
| Stickler Syndrome | Myopia Retinal detachment Joint hypermobility or contracture Scoliosis Mitral Valve Prolapse | Hearing loss Chorioretinal and vitreous degeneration are the hallmark of the syndrome Orofacial involvement such as cleft palate Premature osteoarthritis | COL2A1 COL9A1 COL9A2 COL11A1 COL11A2 |
| MASS phenotype | Mitral valve prolapse Aorta root diameter remains at the upper limits of normal Skin (stretch marks) Skeletal features (scoliosis, chest wall deformities, joint hypermobility) | Aorta does not progress in enlargement Dislocated lenses not found | FBN-1 (Rarely) |
Know the Signs, Fight for Victory
