Table 1.
Phenotypic manifestations of clinically classified SMS associated with causative DDX58 and IFIH1 variants
| Total n (%) from this study | Total n (%) reported with DDX58-associated SMS [6] | Total n (%) reported with IFIH1-associated SMS [1, 11] | |
|---|---|---|---|
| Glaucoma | 2/2 (100) | 10/11 (91) | 5/10 (50) |
| Short stature | 0/2 (0) | 2/11 (18) | 6/9 (67) |
| Aortic and valvular calcification | 2/2 (100) | 5/7 (71) | 0/11 (91) |
| Cardiac arrhythmia | 1/2 (50) | 0/11(0) | 6/11 (55) |
| Acro-osteolysis or tuft erosion of distal phalanx | 0/2 (0) | 8/8 (100) | 6/9 (67) |
| Wide medullary cavities in the phalanges | 0/2 (0) | 0/11 (0) | 9/10 (90) |
| Subungual calcifications | 0/2 (0) | 0/11 (0) | 3/8 (38) |
| Tendon rupture | 2/2 (100) | 0/11 (0) | 6/11(55) |
| Joint subluxation | 2/2 (100) | 1/11 (9) | 8/9 (89) |
| Thick neurocranium | 0/2 (0) | 0/11 (0) | 8/9 (89) |
| Scoliosis | 0/2 (0) | 0/11 (0) | 3/10 (30) |
| Dental problems | 2/2 (100) | 0/11 (0) | 10/11 (91) |
| Dysmorphic facies | 0/2 (0) | 0/11 (0) | 7/7 (100) |
| Weakness/hypotonia | 0/2 (0) | 0/11 (0) | 8/10 (80) |
| Psoriasiform rash | 2/2 (100) | 7/11 (64) | 8/9 (89) |