Marfan | | |
Marfanoid habitus | FBN1 | Fibrillin-1 |
Aortic root diseases | | |
Ectopic lentis | | |
Dural ectasia | | |
Ehlers-Danlos | | |
Joint hypermobility | COL5A1 | Type V collagen |
Skin hyperextensibility | COL5A2 | Type III collagen |
Abnormal wound healing | COL3A1 | |
Mitral valve prolapse | | |
NF1 | | |
Café-au-lait macules | NF1 | Neurofibromin |
Lisch nodules | | |
Neurofibromas | | |
Osteoporosis | | |
Loeys-Dietz | | |
Aortic aneurysms | TGFBR1 | Transforming growth factor β receptor I |
Generalized arterial tortuosity | TGFBR2 | Transforming growth factor β receptor II |
Hypertelorism | TGFB2 | Transforming growth factor β |
Bifid/broad uvula or cleft palate | | |