Table 1.
Tendons’ contractures, contractures and inflammation in heritable connective tissue disorders.
| Connective tissue disorder/Gene | Elbows | Wrist | Hand digits | Hips | Knees | Feet toes |
|---|---|---|---|---|---|---|
| MFS/FBN1 | + | ? | + | ? | ? | + |
| nMFS/FBN1 | + | + | ? | + | + | ? |
| CCA/FBN2 | + | + | + | + | + | + |
| LDS1/TGFBR1 | ? | ? | + | ? | ? | + |
| LDS2/TGFBR2 | ? | ? | + | ? | ? | + |
| LDS3/SMAD3 | ? | ? | + | ? | ? | ? |
| LDS4/TGFB2 | ? | ? | ? | ? | ? | + |
| LDS5/TGFB3 | ? | ? | ? | ? | ? | + |
| EDS/COLs | Ligamens’ and tendons’ rupture, short Achilles tendon, tendon stress/over use, damage/rupture, tenosynovitis, tendinitis, bursitis | |||||
MFS, Marfan Syndrome; FBN1, fibrillin 1; nMFS, neonatal Marfan Syndrome; CCA, Congenital Contractural Arachnodactyly; FBN2, fibrillin 2; LDS1, Loeys-Dietz Syndrome 1; TGFBR1, Transforming Growth Factor Beta Receptor 1; LDS2, Loeys-Dietz Syndrome 2; TGFBR2, Transforming Growth Factor Beta Receptor 2; LDS3, Loeys-Dietz Syndrome 3; SMAD3, Mothers Against Decapentaplegic, Drosophila, Homolog of, 3; LDS4, Loeys-Dietz Syndrome 4; TGFB2, Transforming Growth Factor Beta 2; LDS5, Loeys-Dietz Syndrome 5; TGFB3, Transforming Growth Factor Beta 3; EDS, Ehlers-Danlos Syndrome; COLs, Collagens. ? = unknown; + = reported.