Table 1.
Comparison of phenotypes in humans with FBN1, TGFBR1, TGFBR2, SMAD3 or TGFB2 mutations
| MFS |
LDS |
|||
|---|---|---|---|---|
| FBN1 |
TGFBR1 or TGFBR2 |
SMAD3 | TGFB2 | |
| Ectopia lentis | +++ | − | − | − |
| Cleft palate/bifid uvula | − | ++ | + | + |
| Hypertelorism | − | ++ | + | + |
| Tall stature | +++ | + | + | ++ |
| Arachnodactyly | +++ | + | + | + |
| Pectus deformity | ++ | ++ | ++ | ++ |
| Club foot | − | ++ | + | ++ |
| Osteoarthritis | ++ | + | +++ | + |
| Aortic root aneurysm | ++ | ++ | ++ | ++ |
| Early dissection | + | +++ | ++ | + |
| Other aneurysm | + | ++ | ++ | + |
| Arterial tortuosity | − | ++ | ++ | + |
| BAV | − | ++ | + | + |
| Striae | ++ | + | + | + |
| Hernia | + | + | + | ++ |
| Dural ectasia | + | + | + | + |
BAV, bicuspid aortic valve; −, absent or at population frequency; +, observed; ++, common; +++, typical.