Classic FOP | FOP-plus | FOP variants | ||||
---|---|---|---|---|---|---|
Patient number | 60cases | 46 | 70 | 7 | 42 | 54 |
ACVR1 mutation | ||||||
-Coden change | R206H (45 cases) or not complete (15 cases) | R206H | R206H | R258S | R206H | C306D |
-Nucleotide change (cDNA position) | c.617G > A (45 cases) or not complete(15 cases) | c.617G > A | c.617G > A | c.744G > C | c.617G > A | c.1067G > A |
Gender | M&F (26/34) | M | M | M | M | F |
Age of onset (years) | 0–13 | 18 | 5 | 6 | 2 | 2.5 |
Typical FOP features | ||||||
-Congenital malformations of Great toes | Y | Y | Y | N | Y | Y |
-progressive HO | Y | Y | Y | Y | Y | Y |
-onset site | Scalp(45%); Neck(20%); Back(15%); Shoulder(6.7%); Hip (5%); Others (8.3%) | Shoulder | Back | Knee | Scalp | Shoulder |
Other typical FOP features | ||||||
-Thumb malformations | 1.7% | Y | Y | Y | Y | N |
-Knee osteochondromas | 51.7% | N | N | Y | N | N |
- Scoliosis | 56.7% | N | N | Y | N | Y |
-Conductive hearing impairment | 5% | N | N | N | N | N |
Atypical FOP features features | N | Childhood glaucoma | Cryptorchidism | Minimal changes in great toes | No changes in great toes | Minimal changes in great toes |