Table 2.
Comparison of Marfan, Loeys-Dietz, Sphrintzen-Goldberg, and IPO8 phenotypical characteristics
| MFS | LDS | SGS | IPO8 | |
|---|---|---|---|---|
| Gene(s) | FBN1 | TGFBR1/2, SMAD2/3, TGFB2/3 | SKI | IPO8 |
| Inheritance | AD | AD | AD, de novo | AR |
| Ectopia lentis | +++ | − | − | − |
| Cleft palate/bifid uvula | − | ++ | + | + |
| Hypertelorism | − | ++ | ++ | ++ |
| Proptosis | − | + | ++ | ++ |
| Craniosynostosis | − | + | +++ | − |
| Arachnodactyly | +++ | ++ | ++ | ++ |
| Tall stature | +++ | + | ++ | − |
| Pectus deformity | ++ | ++ | ++ | ++ |
| Club foot | − | ++ | + | + |
| Joint hypermobility | + | ++ | ++ | +++ |
| Cervical spine instability | − | ++ | + | + |
| Osteo-arthritis | + | ++ | + | ? |
| Hernia (umbilical, inguinal …) | + | + | + | + |
| Aortic root aneurysm | +++ | +++ | + | +++ |
| Ascending aneurysm | + | ++ | + | ++ |
| Arterial aneurysm | −/+ | +++ | + | + |
| Arterial tortuosity | − | +++ | + | + |
| Early aortic dissection | + | ++ | − | − |
| BAV/ASD/VSD/PDA | − | + | − | ++ |
| Motor developmental delay | − | − | ++ | ++ |
| Intellectual disability | − | − | ++ | − |
−, absent; +, occasional; ++, common; +++, typical clinical feature; ?, unknown; MFS, Marfan syndrome; LDS, Loeys-Dietz syndrome; SGS, Shprintzen-Goldberg syndrome; TAA, thoracic aortic aneurysm; AD, autosomal dominant; AR, autosomal recessive; BAV, bicuspid aortic valve; ASD, atrial septal defect; VSD, ventricular septal defect; PDA, patent ductus arteriosus.