Table 3:
Most common features of connective tissue diseases
| Clinical Manifestations | Associated Genes | Gene Product |
|---|---|---|
| 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 |